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
PDZD4	57595	broad.mit.edu	37	X	153069795	153069795	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:153069795G>A	ENST00000164640.4	-	8	1514	c.1323C>T	c.(1321-1323)taC>taT	p.Y441Y	PDZD4_ENST00000393758.2_Silent_p.Y366Y|PDZD4_ENST00000544474.1_Silent_p.Y332Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	441						cell cortex		p.Y441Y(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCCAGGTCGTAGAGGCTCT	0.627000													4	32					0	0	0.001984	0	0
KLHL22	84861	broad.mit.edu	37	22	20819222	20819222	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:20819222C>A	ENST00000328879.4	-	4	1191	c.1035G>T	c.(1033-1035)gcG>gcT	p.A345A	KLHL22_ENST00000440659.2_Silent_p.A202A	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	345					cell division	Cul3-RING ubiquitin ligase complex		p.A345A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TGTTGAGCACCGCGATGCCCT	0.567000													42	143					5.34276e-22	8.77803e-22	0.003610	1	0
KIF1A	547	broad.mit.edu	37	2	241727624	241727624	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:241727624C>A	ENST00000498729.2	-	4	453	c.207G>T	c.(205-207)tcG>tcT	p.S69S	KIF1A_ENST00000320389.7_Silent_p.S69S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	69	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.S69S(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCTGCTTCTGCGACGCGTAGT	0.602000													7	21					0.000157383	0.000179787	0.003080	1	0
IRX6	79190	broad.mit.edu	37	16	55360341	55360341	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:55360341C>T	ENST00000290552.7	+	2	1471	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	47						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L47F(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AGCGCCCGCTCTCTGCTGCGC	0.637000													5	25					0	0	0.001168	0	0
SALL4	57167	broad.mit.edu	37	20	50408003	50408003	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:50408003C>T	ENST00000217086.4	-	2	1130	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	SALL4_ENST00000395997.3_Missense_Mutation_p.G340D|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	340					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G340D(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGCACCGAGCCCGGGGCCTG	0.637000													5	108					0	0	0.000602	0	0
OR6K3	391114	broad.mit.edu	37	1	158687103	158687103	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:158687103A>G	ENST00000368146.1	-	1	850	c.851T>C	c.(850-852)gTt>gCt	p.V284A	OR6K3_ENST00000368145.1_Missense_Mutation_p.V268A			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V284A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TGTGTCCAAAACTGGTGGATA	0.433000													4	223					0	0	0.009096	0	0
OR9A4	130075	broad.mit.edu	37	7	141619029	141619029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:141619029G>T	ENST00000548136.1	+	1	413	c.354G>T	c.(352-354)atG>atT	p.M118I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M118I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTGGAGCAATGGCTGTGGACC	0.478000													83	152					2.13431e-38	3.70073e-38	0.003610	1	0
PTPRD	5789	broad.mit.edu	37	9	8485784	8485784	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:8485784G>A	ENST00000381196.4	-	25	3576	c.3033C>T	c.(3031-3033)ttC>ttT	p.F1011F	PTPRD_ENST00000356435.5_Silent_p.F1011F|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.F1011F|PTPRD_ENST00000360074.4_Silent_p.F998F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.F989F|PTPRD_ENST00000355233.5_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1011	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.F1011F(2)		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)		GCAGTGTCCTGAACTGGACAC	0.448000										TSP Lung(15;0.13)			4	15					0	0	0.001984	0	0
CACTIN	58509	broad.mit.edu	37	19	3624101	3624101	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:3624101C>G	ENST00000429344.2	-	2	279	c.227G>C	c.(226-228)cGg>cCg	p.R76P	CACTIN_ENST00000248420.5_Missense_Mutation_p.R76P|CACTIN_ENST00000221899.3_Missense_Mutation_p.R8P	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit									p.R8P(1)|p.R76P(1)									CCACTTGGGCCGCGGGGGGCT	0.677000													4	167					0	0	0.001168	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374256	95374256	+	RNA	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:95374256G>A	ENST00000494840.1	-	0	1605					NR_077228.1																						AACAATTTTTGACCTTCCAGT	0.453000													11	52					0	0	0.008291	0	0
TIMM50	92609	broad.mit.edu	37	19	39978750	39978750	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:39978750G>T	ENST00000314349.4	+	9	1188	c.1055G>T	c.(1054-1056)tGc>tTc	p.C352F	TIMM50_ENST00000607714.1_Missense_Mutation_p.C249F|TIMM50_ENST00000544017.1_Missense_Mutation_p.C136F|TIMM50_ENST00000599794.1_Missense_Mutation_p.C53F	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	249					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	p.C352F(1)		NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTGTGGACTGCAAGAAGGAA	0.562000													62	328					1.19553e-41	2.08412e-41	0.003610	1	0
PHACTR1	221692	broad.mit.edu	37	6	13206311	13206311	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:13206311G>A	ENST00000379350.1	+	7	1058	c.929G>A	c.(928-930)tGc>tAc	p.C310Y	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.C310Y|PHACTR1_ENST00000457702.2_Missense_Mutation_p.C165Y			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	310						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	p.C310Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCGGGCTGCAGAATGATA	0.637000													4	25					0	0	0.000602	0	0
PAK7	57144	broad.mit.edu	37	20	9546831	9546831	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:9546831C>A	ENST00000378429.3	-	6	1737	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	PAK7_ENST00000378423.1_Silent_p.T397T|PAK7_ENST00000353224.5_Silent_p.T397T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	397	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T397T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGTAGGAAGCCGTGGAGATGT	0.622000													6	165					0.00116845	0.00129221	0.001168	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135253996	135253996	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:135253996C>T	ENST00000265605.2	-	5	835	c.767G>A	c.(766-768)gGc>gAc	p.G256D	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G256D|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G206D	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	256					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.G256D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCTTGCCCCCCAGCTC	0.622000													5	135					0	0	0.000602	0	0
APOB	338	broad.mit.edu	37	2	21227177	21227177	+	Silent	SNP	G	G	A	rs12713501	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:21227177G>A	ENST00000233242.1	-	28	12178	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4017					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4017D(1)		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)	TAGAAAAGTCGTCATCTTCAT	0.512000													25	64					0	0	0.007291	0	0
NISCH	11188	broad.mit.edu	37	3	52505828	52505828	+	Splice_Site	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:52505828A>G	ENST00000345716.4	+	5	543		c.e5-1		NISCH_ENST00000420808.2_Splice_Site|NISCH_ENST00000479054.1_Splice_Site|NISCH_ENST00000488380.1_Splice_Site	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin						apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGGCTCTTGCAGGAGAACAGC	0.617000													8	23					0	0	0.006214	0	0
SCAMP5	192683	broad.mit.edu	37	15	75310808	75310808	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:75310808G>T	ENST00000361900.6	+	7	652	c.445G>T	c.(445-447)Gtg>Ttg	p.V149L	SCAMP5_ENST00000562212.1_Missense_Mutation_p.V157L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.V78L|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V149L|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V82L	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	149					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding	p.V157L(1)|p.V149L(1)		large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TGGCTCGGCGGTGGTGATGCT	0.582000													13	106					9.31168e-06	1.11488e-05	0.001855	1	0
FASTKD1	79675	broad.mit.edu	37	2	170403036	170403036	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:170403036C>A	ENST00000453153.2	-	8	1739	c.1393G>T	c.(1393-1395)Gat>Tat	p.D465Y	FASTKD1_ENST00000453929.2_Missense_Mutation_p.D465Y	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	465					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.D465Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TACATGTGATCATGCTGAATC	0.398000													17	118					4.14922e-12	6.04938e-12	0.004007	1	0
STEAP1	26872	broad.mit.edu	37	7	89790136	89790136	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:89790136G>C	ENST00000297205.2	+	3	302	c.102G>C	c.(100-102)gaG>gaC	p.E34D	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	34					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	p.E34D(1)		kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ACACGGGAGAGACCAGCATGC	0.388000													19	154					0	0	0.010504	0	0
ZNF253	56242	broad.mit.edu	37	19	20003499	20003499	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:20003499A>C	ENST00000589717.1	+	4	1535	c.1443A>C	c.(1441-1443)atA>atC	p.I481I	ZNF253_ENST00000355650.4_Silent_p.I405I|CTC-559E9.8_ENST00000585571.1_RNA	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	481					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I453I(1)|p.I481I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACCCTACATAGTGAAGAATG	0.338000													4	78					0	0	0.009096	0	0
KRT75	9119	broad.mit.edu	37	12	52822519	52822519	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:52822519C>G	ENST00000252245.5	-	6	1264	c.1044G>C	c.(1042-1044)gaG>gaC	p.E348D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	348	Coil 2.|Rod.					keratin filament	structural molecule activity	p.E348D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGACCTGCAGCTCCTCGTACT	0.557000													5	133					0	0	0.001168	0	0
UBBP4	23666	broad.mit.edu	37	17	21731297	21731297	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:21731297G>A	ENST00000584755.1	+	2	996	c.599G>A	c.(598-600)aGc>aAc	p.S200N	UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR														p.S200N(1)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						TTGCAGGCAAGCAGCTGGAAG	0.527000													29	79					0	0	0.009535	0	0
DMD	1756	broad.mit.edu	37	X	32305789	32305789	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:32305789T>A	ENST00000357033.4	-	43	6353	c.6147A>T	c.(6145-6147)tcA>tcT	p.S2049S	DMD_ENST00000378677.2_Silent_p.S2045S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2049					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.S708S(1)|p.S2049S(1)|p.S2044S(1)|p.S2045S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CAATCCGACCTGAGCTTTGTT	0.338000													5	26					0	0	0.000602	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457827	45457827	+	RNA	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:45457827T>A	ENST00000548424.1	+	0	448																											ATAAAGGCTTTGTTTAGGCGA	0.458000													10	187					0	0	0.008291	0	0
ZNF326	284695	broad.mit.edu	37	1	90484244	90484244	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:90484244G>T	ENST00000340281.4	+	9	1218	c.1074_splice	c.e9-1	p.E359_splice	ZNF326_ENST00000370447.2_Splice_Site_p.E270_splice|ZNF326_ENST00000455342.2_Splice_Site_p.E153_splice	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.E359*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TGTTTTCTAGGAGTGTATGGT	0.303000													5	30					0.000602214	0.000676794	0.000602	1	0
SNTG1	54212	broad.mit.edu	37	8	51621445	51621445	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:51621445G>T	ENST00000522124.1	+	17	1852		c.e17-1		SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1						cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.?(4)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTCTACCTAGTGCAAGACCT	0.343000													39	87					3.33393e-15	5.09803e-15	0.004878	1	0
GRIP1	23426	broad.mit.edu	37	12	66814542	66814542	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:66814542G>T	ENST00000359742.4	-	15	2036	c.1796C>A	c.(1795-1797)cCc>cAc	p.P599H	GRIP1_ENST00000398016.3_Missense_Mutation_p.P547H|GRIP1_ENST00000286445.7_Missense_Mutation_p.P599H			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	599	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.P547H(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AATGACGAGGGGGTCTCCTGG	0.378000													70	157					9.42754e-34	1.62596e-33	0.003610	1	0
SEC14L1	6397	broad.mit.edu	37	17	75196633	75196633	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:75196633A>G	ENST00000413679.2	+	9	1190	c.887A>G	c.(886-888)gAg>gGg	p.E296G	SEC14L1_ENST00000443798.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E262G|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E262G|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E296G|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E296G	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	296					transport	Golgi apparatus|integral to membrane	binding	p.E296G(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAAGCCAGAGAGATCATGTGT	0.433000													12	292					0	0	0.002450	0	0
ZP4	57829	broad.mit.edu	37	1	238053192	238053192	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:238053192C>A	ENST00000366570.4	-	3	533	c.375G>T	c.(373-375)ctG>ctT	p.L125L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	125					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.L125L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GACACTTGAGCAGCTTCCTCT	0.562000													14	511					1.5739e-10	2.2213e-10	0.004007	1	0
IRS1	3667	broad.mit.edu	37	2	227660130	227660130	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:227660130T>A	ENST00000305123.4	-	1	4345	c.3325A>T	c.(3325-3327)Agt>Tgt	p.S1109C		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1109					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.S1109C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CGGGTGGCACTGGGTGTTGAG	0.632000													20	85					0	0	0.008871	0	0
ADH1B	125	broad.mit.edu	37	4	100237263	100237263	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:100237263G>T	ENST00000305046.8	-	5	426	c.359C>A	c.(358-360)cCt>cAt	p.P120H	ADH1B_ENST00000394887.3_Missense_Mutation_p.P80H			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	120					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.P120H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGTCCCCCGAGGATTGCCTAG	0.547000													27	37					7.41945e-09	9.85539e-09	0.005443	1	0
CRY1	1407	broad.mit.edu	37	12	107393382	107393382	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:107393382C>A	ENST00000008527.5	-	7	1951	c.1084G>T	c.(1084-1086)Gct>Tct	p.A362S		NM_004075.3	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	362	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	p.A362S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						AGGAAGCAAGCAACTGCATGC	0.483000													23	85					6.12954e-19	9.64632e-19	0.004656	1	0
NRXN1	9378	broad.mit.edu	37	2	50765619	50765619	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:50765619C>T	ENST00000404971.1	-	11	3374	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	NRXN1_ENST00000402717.3_Missense_Mutation_p.G631S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G639S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G631S|NRXN1_ENST00000406316.2_Missense_Mutation_p.G639S|NRXN1_ENST00000406859.3_Missense_Mutation_p.G639S|NRXN1_ENST00000331040.5_5'UTR	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	639	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G680S(1)|p.G679S(1)|p.G639S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCCACGTAGCCATAGTTGAGC	0.522000													51	177					0	0	0.003610	0	0
OR11G2	390439	broad.mit.edu	37	14	20665955	20665955	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20665955C>A	ENST00000357366.3	+	1	461	c.461C>A	c.(460-462)gCa>gAa	p.A154E		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A154E(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTTTTCCTGGCAGTTATGGCA	0.478000													16	50					1.15088e-07	1.45698e-07	0.004007	1	0
CEACAM20	125931	broad.mit.edu	37	19	45029229	45029229	+	RNA	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:45029229A>T	ENST00000454753.1	-	0	379							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane		p.L34H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTTGGCATTGAGGGTGAGCTG	0.577000													15	135					0	0	0.002450	0	0
ZNF85	7639	broad.mit.edu	37	19	21116875	21116875	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:21116875G>T	ENST00000328178.8	+	2	162	c.49G>T	c.(49-51)Gag>Tag	p.E17*	ZNF85_ENST00000345030.6_Nonsense_Mutation_p.E17*|ZNF85_ENST00000300540.3_Nonsense_Mutation_p.E17*|ZNF85_ENST00000597314.1_Nonsense_Mutation_p.E17*|ZNF85_ENST00000596476.1_5'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	17	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E17*(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTCTCTGAAGGAGTGGCAATG	0.438000													25	128					1.17739e-12	1.73482e-12	0.005443	1	0
PGM5	5239	broad.mit.edu	37	9	71006565	71006565	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:71006565G>C	ENST00000396396.1	+	5	1042	c.813G>C	c.(811-813)ctG>ctC	p.L271L	PGM5_ENST00000396392.1_Silent_p.L271L|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	271					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.L271L(1)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACCCAAACCTGACATATGCAA	0.493000													15	74					0	0	0.007413	0	0
C1orf173	127254	broad.mit.edu	37	1	75037858	75037858	+	Missense_Mutation	SNP	C	C	A	rs76571187		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75037858C>A	ENST00000326665.5	-	14	3754	c.3536G>T	c.(3535-3537)gGg>gTg	p.G1179V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1179	Glu-rich.							p.G1179V(1)		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						CAGTCTTTCCCCTCCTCCTTC	0.493000													36	241					1.47244e-24	2.48219e-24	0.006230	1	0
ARMC3	219681	broad.mit.edu	37	10	23235133	23235133	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:23235133C>G	ENST00000298032.5	+	3	193	c.109C>G	c.(109-111)Cca>Gca	p.P37A	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.P37A|ARMC3_ENST00000409983.3_Missense_Mutation_p.P37A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	37							binding	p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTTAATTCTCCAGAAGAGGA	0.318000													39	89					0	0	0.008740	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48558262	48558262	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:48558262G>C	ENST00000354276.3	-	15	1629	c.1302C>G	c.(1300-1302)ccC>ccG	p.P434P	PLA2G4C_ENST00000599921.1_Silent_p.P434P|PLA2G4C_ENST00000599111.1_Silent_p.P444P|PLA2G4C_ENST00000413144.2_Silent_p.P434P|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	434	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	p.P434P(1)		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)		CTTGGGGAAAGGGGATCTTGT	0.547000													49	63					0	0	0.003610	0	0
RYR2	6262	broad.mit.edu	37	1	237942011	237942011	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237942011T>A	ENST00000366574.2	+	88	12138	c.11821T>A	c.(11821-11823)Tgg>Agg	p.W3941R	RYR2_ENST00000542537.1_Missense_Mutation_p.W3925R|RYR2_ENST00000360064.6_Missense_Mutation_p.W3947R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3941					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.W3939R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGCAGGCTGTGGGATGCTGT	0.448000													10	95					0	0	0.000978	0	0
TBATA	219793	broad.mit.edu	37	10	72539460	72539460	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:72539460G>A	ENST00000299290.1	-	5	705	c.316C>T	c.(316-318)Cca>Tca	p.P106S	TBATA_ENST00000545575.1_Missense_Mutation_p.P96S|TBATA_ENST00000456372.2_Missense_Mutation_p.P106S	NM_152710.2	NP_689923.2			thymus, brain and testes associated									p.P106S(1)									AAGGGGGCTGGAAAATCCCTG	0.562000													7	80					0	0	0.004482	0	0
SEPT10	151011	broad.mit.edu	37	2	110310790	110310790	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:110310790T>C	ENST00000356688.4	-	9	1350	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	SEPT10_ENST00000397714.2_Silent_p.Q322Q|SEPT10_ENST00000545389.1_Silent_p.Q178Q|SEPT10_ENST00000437928.1_Silent_p.Q330Q|SEPT10_ENST00000334001.6_Silent_p.Q212Q|SEPT10_ENST00000397712.2_Silent_p.Q345Q|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000415095.1_Silent_p.Q345Q			Q9P0V9	SEP10_HUMAN	septin 10	345					cell cycle|cell division	septin complex	GTP binding	p.Q322Q(1)|p.Q345Q(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATAGGTCTCTTGAACACTAA	0.443000													23	129					0	0	0.002299	0	0
HDAC2	3066	broad.mit.edu	37	6	114281153	114281153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:114281153C>G	ENST00000519065.1	-	2	458	c.82G>C	c.(82-84)Ggt>Cgt	p.G28R	HDAC2_ENST00000398283.2_Missense_Mutation_p.G122R|HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519108.1_5'UTR			Q92769	HDAC2_HUMAN	histone deacetylase 2	28	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.G28R(1)|p.G122R(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ATGGGATGACCCTGTCCATAA	0.323000													4	100					0	0	0.001168	0	0
SRXN1	140809	broad.mit.edu	37	20	629553	629553	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:629553T>A	ENST00000488788.2	-	3	430	c.232A>T	c.(232-234)Aga>Tga	p.R78*	SRXN1_ENST00000381962.3_Silent_p.P73P														p.P73P(1)									GCACGCTGTCTGGGTCCTCCT	0.562000													4	48					0	0	0.009096	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65810715	65810715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:65810715G>T	ENST00000312006.4	-	3	840	c.559C>A	c.(559-561)Ccc>Acc	p.P187T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P187T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	187					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	p.P187T(1)		kidney(1)|lung(9)|ovary(2)|skin(2)	14						TATGCCTCGGGCGCGCGCAGG	0.677000													26	40					1.17739e-12	1.73482e-12	0.005443	1	0
C1orf173	127254	broad.mit.edu	37	1	75107077	75107077	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75107077G>T	ENST00000326665.5	-	5	600	c.382C>A	c.(382-384)Cca>Aca	p.P128T		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	128								p.P128T(1)		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						TTACTCTTTGGGCCAACTGGT	0.443000													19	95					4.35082e-09	5.83514e-09	0.010504	1	0
GRB2	2885	broad.mit.edu	37	17	73317748	73317748	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:73317748C>A	ENST00000392562.1	-	5	1242	c.460G>T	c.(460-462)Gtg>Ttg	p.V154L	GRB2_ENST00000316804.5_Missense_Mutation_p.V154L|GRB2_ENST00000392563.1_Missense_Mutation_p.V113L|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392564.1_Missense_Mutation_p.V154L|GRB2_ENST00000316615.5_Missense_Mutation_p.V113L|GRB2_ENST00000462266.1_5'UTR			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	154					axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity	p.V154L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	ACCTGTGGCACCTGTTCTATG	0.478000													13	96					1.3612e-06	1.68588e-06	0.003163	1	0
KIAA1551	55196	broad.mit.edu	37	12	32137134	32137134	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:32137134A>G	ENST00000312561.4	+	4	3659	c.3245A>G	c.(3244-3246)tAc>tGc	p.Y1082C	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551									p.Y1082C(1)									CAAACTACATACCAGACCTCA	0.403000													5	216					0	0	0.001168	0	0
LONP2	83752	broad.mit.edu	37	16	48304127	48304127	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:48304127G>T	ENST00000285737.4	+	7	1276	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	LONP2_ENST00000535754.1_Nonsense_Mutation_p.E351*	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	395					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.E395*(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTAGGTCGAGAGTTCCACAG	0.463000													29	151					7.01153e-11	9.96808e-11	0.007291	1	0
TRIM52	84851	broad.mit.edu	37	5	180687616	180687616	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:180687616C>T	ENST00000327767.4	-	1	503	c.199G>A	c.(199-201)Gag>Aag	p.E67K	CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	67	Glu-rich.					intracellular	zinc ion binding	p.E67K(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		tcctcgtcctcctcctcctcc	0.582000													4	104					0	0	0.009096	0	0
CHRND	1144	broad.mit.edu	37	2	233399022	233399022	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:233399022C>A	ENST00000258385.3	+	11	1373	c.1341C>A	c.(1339-1341)aaC>aaA	p.N447K	CHRND_ENST00000457943.2_Missense_Mutation_p.N253K|CHRND_ENST00000543200.1_Missense_Mutation_p.N432K	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	447					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.N447K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		TCATTGTTAACCACATGAGGG	0.502000													21	55					1.10923e-09	1.51699e-09	0.002780	1	0
GOLIM4	27333	broad.mit.edu	37	3	167728076	167728076	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:167728076T>A	ENST00000470487.1	-	16	2761	c.2072A>T	c.(2071-2073)cAt>cTt	p.H691L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.H663L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	691					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus		p.H691L(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCTCTTCGATGTGATTTCTC	0.493000													54	130					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123155942	123155942	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:123155942G>T	ENST00000264501.4	+	27	3711	c.3338G>T	c.(3337-3339)tGg>tTg	p.W1113L	KIAA1109_ENST00000388738.3_Missense_Mutation_p.W1113L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.W1113L|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1113					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.W1113L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGTTTTTATGGCCAGATGAT	0.343000													19	107					1.64113e-05	1.94572e-05	0.010504	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:232607141G>T	ENST00000366630.1	-	7	2577	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	740	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P740Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCGGTACATGGATTATGCAC	0.433000													46	283					9.22156e-22	1.50997e-21	0.003610	1	0
GRID2	2895	broad.mit.edu	37	4	94343933	94343933	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:94343933T>C	ENST00000282020.4	+	10	1617	c.1359T>C	c.(1357-1359)ttT>ttC	p.F453F	GRID2_ENST00000510992.1_Silent_p.F358F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	453					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.F453F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AAGAACCTTTTGTGATGGTCT	0.358000													22	42					0	0	0.002780	0	0
NIPBL	25836	broad.mit.edu	37	5	36985213	36985213	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:36985213T>C	ENST00000282516.8	+	10	2430	c.1931T>C	c.(1930-1932)gTt>gCt	p.V644A	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V644A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	644					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.V644A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAACTAAAGTTGAGACCCAA	0.338000													17	89					0	0	0.004007	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962744	88962744	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:88962744A>T	ENST00000333190.4	+	4	1057	c.448A>T	c.(448-450)Att>Ttt	p.I150F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	150						intracellular	zinc ion binding	p.I150F(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAGCAAGGAATTTTCCCCAT	0.393000										HNSCC(36;0.09)			18	52					0	0	0.007413	0	0
EPHA4	2043	broad.mit.edu	37	2	222291250	222291250	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:222291250C>A	ENST00000281821.2	-	16	2821	c.2780G>T	c.(2779-2781)cGg>cTg	p.R927L	EPHA4_ENST00000409938.1_Missense_Mutation_p.R927L|EPHA4_ENST00000392071.4_Missense_Mutation_p.R876L|EPHA4_ENST00000409854.1_Missense_Mutation_p.R927L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	927	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R927L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ATCCTTATACCGGTCCATTTT	0.478000													6	75					8.12818e-05	9.41822e-05	0.001984	1	0
ZFP57	346171	broad.mit.edu	37	6	29643264	29643264	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:29643264G>A	ENST00000376883.1	-	5	602	c.190_splice	c.e5-1	p.A64_splice	ZFP57_ENST00000376881.3_Splice_Site_p.A64_splice|ZFP57_ENST00000488757.1_Splice_Site_p.A84_splice			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	56	KRAB.				DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.A64V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAAGATTCTGGCTGATGTGTG	0.478000													19	187					0	0	0.006122	0	0
CASR	846	broad.mit.edu	37	3	121980969	121980969	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:121980969G>T	ENST00000498619.1	+	4	1525	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C	CASR_ENST00000296154.5_Missense_Mutation_p.G363C|CASR_ENST00000490131.1_Missense_Mutation_p.G363C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	363					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.G363C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCTCCAAGAAGGTGCAAAAGG	0.502000													33	49					2.48696e-23	4.15634e-23	0.003271	1	0
EIF2B2	8892	broad.mit.edu	37	14	75469819	75469819	+	Silent	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:75469819G>C	ENST00000266126.5	+	1	206	c.126G>C	c.(124-126)ctG>ctC	p.L42L		NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	42					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	p.L42L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TAGGGTTGCTGCGCCAGATCA	0.672000													4	37					0	0	0.000602	0	0
BRINP3	339479	broad.mit.edu	37	1	190233997	190233997	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:190233997T>C	ENST00000367462.3	-	4	847	c.616A>G	c.(616-618)Aag>Gag	p.K206E	FAM5C_ENST00000534846.1_Missense_Mutation_p.K104E|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		206						extracellular region		p.K206E(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATTCTTACCTTTATGGCAGTG	0.388000													40	82					0	0	0.003610	0	0
SLC27A5	10998	broad.mit.edu	37	19	59021298	59021298	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:59021298T>C	ENST00000263093.2	-	3	1082	c.973A>G	c.(973-975)Aca>Gca	p.T325A	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T241A	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	325					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T325A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCATCAGCTGTGGCCCCAGAT	0.567000													31	37					0	0	0.002836	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669876	131669876	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:131669876A>T	ENST00000259324.5	+	3	956	c.433A>T	c.(433-435)Aaa>Taa	p.K145*	LRRC8A_ENST00000372600.4_Nonsense_Mutation_p.K145*|LRRC8A_ENST00000372599.3_Nonsense_Mutation_p.K145*	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	145					pre-B cell differentiation	integral to membrane		p.K145*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGGTTCAAATTCCCGCG	0.567000													31	41					0	0	0.003755	0	0
JPH2	57158	broad.mit.edu	37	20	42747215	42747215	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:42747215C>T	ENST00000372980.3	-	3	2090	c.1218G>A	c.(1216-1218)ctG>ctA	p.L406L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	406	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.L406L(1)		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)			GGTTGGCAGCCAGGGCGGCCT	0.612000													20	182					0	0	0.002780	0	0
GPR158	57512	broad.mit.edu	37	10	25887875	25887875	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:25887875C>A	ENST00000376351.3	+	11	3679	c.3320C>A	c.(3319-3321)cCt>cAt	p.P1107H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1107						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1107H(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGGTCAGCCTCGTGCAGCC	0.502000													22	147					7.41877e-09	9.85539e-09	0.001882	1	0
ELK4	2005	broad.mit.edu	37	1	205589269	205589269	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:205589269T>A	ENST00000357992.4	-	3	1244	c.905A>T	c.(904-906)gAc>gTc	p.D302V	ELK4_ENST00000289703.4_Missense_Mutation_p.D302V	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)									p.D302V(2)	SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TGAATCCTGGTCTTTAGGCTC	0.458000			T	SLC45A3	prostate								12	224					0	0	0.000978	0	0
PSEN2	5664	broad.mit.edu	37	1	227073239	227073239	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:227073239C>T	ENST00000366782.1	+	6	956	c.455_splice	c.e6-1	p.L152_splice	PSEN2_ENST00000366783.3_Splice_Site_p.L119_splice|PSEN2_ENST00000472139.2_5'UTR|PSEN2_ENST00000340188.4_Splice_Site_p.L119_splice|PSEN2_ENST00000422240.2_Splice_Site_p.L119_splice|PSEN2_ENST00000391872.2_Splice_Site_p.L152_splice			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	119					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	p.L119L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				TCTCCCTCAGCATCTACACGC	0.597000													17	19					0	0	0.004990	0	0
CSF2RB	1439	broad.mit.edu	37	22	37326508	37326508	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:37326508C>A	ENST00000262825.5	+	7	1027	c.810C>A	c.(808-810)agC>agA	p.S270R	CSF2RB_ENST00000406230.1_Missense_Mutation_p.S270R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S270R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S211R	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	270					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.S270R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGTGGCCAGCTCGGTCTCCT	0.617000													6	160					0.00198382	0.00215952	0.001984	1	0
ABCC4	10257	broad.mit.edu	37	13	95829973	95829973	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:95829973T>A	ENST00000376887.4	-	13	1829	c.1715A>T	c.(1714-1716)cAc>cTc	p.H572L	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.H572L|ABCC4_ENST00000536256.1_Missense_Mutation_p.H497L|ABCC4_ENST00000412704.1_Missense_Mutation_p.H572L	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	572	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.H572L(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTCGAACAAGTGTCTGCTAAC	0.443000													13	37					0	0	0.001855	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749049	153749049	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:153749049C>G	ENST00000271857.2	+	2	1867	c.1107C>G	c.(1105-1107)caC>caG	p.H369Q	SLC27A3_ENST00000368661.3_Missense_Mutation_p.H288Q|SLC27A3_ENST00000484014.1_3'UTR			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	288					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	p.H288Q(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGGCTCCACCTGTGGGCTG	0.622000													9	233					0	0	0.004482	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475609	118475609	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:118475609G>T	ENST00000360388.4	+	2	376	c.173_splice	c.e2-1	p.E59_splice		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	59					transport	integral to membrane		p.E59*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		ATTTCTCAGGGAGATGTTAAT	0.423000													17	183					5.3912e-06	6.52726e-06	0.006122	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960665	73960665	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:73960665G>A	ENST00000373468.1	-	3	4378	c.3727C>T	c.(3727-3729)Cgt>Tgt	p.R1243C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1243C			Q5QGS0	K2022_HUMAN	KIAA2022	1243					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R1243C(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCCCCCACGGCCAATGCCA	0.493000													21	15					0	0	0.003954	0	0
EPS15L1	58513	broad.mit.edu	37	19	16503150	16503150	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16503150C>A	ENST00000455140.2	-	19	2134	c.2068G>T	c.(2068-2070)Gat>Tat	p.D690Y	EPS15L1_ENST00000248070.6_Missense_Mutation_p.D690Y|EPS15L1_ENST00000535753.2_Missense_Mutation_p.D690Y|EPS15L1_ENST00000594975.1_Missense_Mutation_p.D692Y	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	690	15 X 3 AA repeats of D-P-F.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.D690Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GTGAATGGATCCGAGGTAAAT	0.532000													18	55					9.16793e-09	1.21281e-08	0.004990	1	0
SLC5A11	115584	broad.mit.edu	37	16	24909338	24909338	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:24909338C>A	ENST00000449109.2	+	9	800	c.516C>A	c.(514-516)tgC>tgA	p.C172*	SLC5A11_ENST00000539472.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A270D|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A270D|SLC5A11_ENST00000569071.1_Nonsense_Mutation_p.C172*|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A235D|SLC5A11_ENST00000347898.3_Missense_Mutation_p.A305D|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A235D	NM_001258414.1	NP_001245343.1	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	346					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.A305D(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTGTCCCATGCCAAAGGAGGT	0.537000													12	285					0.00185496	0.00204445	0.001855	1	0
ZFHX4	79776	broad.mit.edu	37	8	77768330	77768330	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77768330T>A	ENST00000521891.2	+	10	9621	c.9173T>A	c.(9172-9174)cTg>cAg	p.L3058Q	ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3013Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3032Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3013Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3013	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L3042Q(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTCGGCAGCTGATGGCACAG	0.522000										HNSCC(33;0.089)			5	140					0	0	0.001168	0	0
MOK	5891	broad.mit.edu	37	14	102718263	102718263	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:102718263T>A	ENST00000361847.2	-	5	584	c.353A>T	c.(352-354)cAt>cTt	p.H118L	MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.H118L|MOK_ENST00000524214.1_Missense_Mutation_p.H88L	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	118	Protein kinase.				signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.H118L(1)									CCTGTGAATATGATCCAGGGA	0.323000													20	59					0	0	0.002780	0	0
ZNF577	84765	broad.mit.edu	37	19	52376333	52376333	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52376333C>A	ENST00000420592.1	-	6	2066	c.733G>T	c.(733-735)Gga>Tga	p.G245*	ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.G304*|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.G245*			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G297*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAGGTTCTTCCACAATCACTG	0.438000													33	165					1.36161e-19	2.16034e-19	0.004289	1	0
ALK	238	broad.mit.edu	37	2	29917880	29917880	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:29917880C>A	ENST00000389048.3	-	3	1694	c.787_splice	c.e3-1	p.G263_splice	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	263					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.?(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCACTCCAGACCTGCAATAAT	0.557000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				23	84					3.65163e-15	5.57505e-15	0.006320	1	0
BNC2	54796	broad.mit.edu	37	9	16435569	16435569	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:16435569G>A	ENST00000380672.4	-	6	2680	c.2623C>T	c.(2623-2625)Cgc>Tgc	p.R875C	BNC2_ENST00000380666.2_Missense_Mutation_p.R875C|BNC2_ENST00000380667.2_Missense_Mutation_p.R808C|BNC2_ENST00000545497.1_Missense_Mutation_p.R780C	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.R875C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGGCTTCGGCGAGAGGGGAAT	0.498000													4	32					0	0	0.009096	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27835424	27835424	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:27835424G>T	ENST00000318304.8	+	22	2452	c.2169G>T	c.(2167-2169)tgG>tgT	p.W723C	PPFIBP1_ENST00000228425.6_Missense_Mutation_p.W717C|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.W692C|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.W570C	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	723	SAM 2.				cell adhesion	plasma membrane	protein binding	p.W717C(1)|p.W723C(1)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					ATTTCAACTGGGTCACTAGTA	0.363000													49	120					1.86633e-21	3.04062e-21	0.003610	1	0
CACNG7	59284	broad.mit.edu	37	19	54444824	54444824	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:54444824C>T	ENST00000391767.1	+	5	737	c.525C>T	c.(523-525)taC>taT	p.Y175Y	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.Y175Y|CACNG7_ENST00000222212.2_Silent_p.Y175Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	175					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y175Y(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ATTATCGCTACGGGTGGTCTT	0.537000													27	165					0	0	0.006320	0	0
COL4A3	1285	broad.mit.edu	37	2	228157957	228157957	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:228157957A>T	ENST00000396578.3	+	38	3423	c.3261A>T	c.(3259-3261)caA>caT	p.Q1087H	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1087	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.Q1087H(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAATGGGGCAACCTGGCCCAC	0.502000													4	53					0	0	0.009096	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512842	99512842	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:99512842C>A	ENST00000535714.1	-	4	826	c.21G>T	c.(19-21)gcG>gcT	p.A7A	PGPEP1L_ENST00000378919.6_Silent_p.A61A|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	61					proteolysis		cysteine-type peptidase activity	p.A61V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CCAGAATGATCGCCTTGGCGG	0.622000													18	101					3.62473e-10	5.04243e-10	0.001882	1	0
SCFD2	152579	broad.mit.edu	37	4	54231430	54231430	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:54231430A>C	ENST00000401642.3	-	1	812	c.679T>G	c.(679-681)Tgt>Ggt	p.C227G	SCFD2_ENST00000388940.4_Missense_Mutation_p.C227G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	227					protein transport|vesicle docking involved in exocytosis			p.C227G(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AAATGTTCACACAGAGAACTG	0.527000													12	113					0	0	0.001855	0	0
DCDC2	51473	broad.mit.edu	37	6	24357729	24357729	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:24357729C>A	ENST00000378454.3	-	1	551	c.250G>T	c.(250-252)Ggc>Tgc	p.G84C	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	84	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration			p.G84C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				ACGTAATTGCCCCCGCTCTGG	0.612000													13	61					1.05317e-09	1.44439e-09	0.002450	1	0
DAB2IP	153090	broad.mit.edu	37	9	124544669	124544669	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:124544669G>A	ENST00000408936.3	+	16	3644	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	DAB2IP_ENST00000259371.2_Silent_p.Q1126Q|DAB2IP_ENST00000309989.1_Silent_p.Q1030Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	1154					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.Q1030Q(1)|p.Q1126Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCCTGACCCAGCTGAAAGAGA	0.582000													4	126					0	0	0.009096	0	0
AMY1C	278	broad.mit.edu	37	1	104297220	104297220	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:104297220T>C	ENST00000370079.3	+	6	1042	c.978T>C	c.(976-978)tcT>tcC	p.S326S		NM_001008219.1	NP_001008220.1	P04745	AMY1_HUMAN	amylase, alpha 1C (salivary)	326					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding|protein binding	p.S326S(1)		lung(5)|skin(3)	8		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)		GAGGAGCCTCTATACTTACCT	0.413000													19	429					0	0	0.006230	0	0
SUGP1	57794	broad.mit.edu	37	19	19389590	19389590	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:19389590A>G	ENST00000247001.5	-	11	1891	c.1544T>C	c.(1543-1545)cTg>cCg	p.L515P		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	515					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding	p.L515P(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						CATCTTTGTCAGCTGCTCGGC	0.582000													11	15					0	0	0.008291	0	0
KCNT2	343450	broad.mit.edu	37	1	196309513	196309513	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:196309513C>A	ENST00000367433.5	-	16	1842	c.1741G>T	c.(1741-1743)Gga>Tga	p.G581*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.G192*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.G581*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.G531*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	581						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.G581*(1)		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						CTGGAAGGTCCATGATAAAAC	0.294000													4	151					0.000602214	0.000676794	0.000602	1	0
CSMD1	64478	broad.mit.edu	37	8	3265427	3265427	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3265427A>C	ENST00000520002.1	-	15	2623	c.2068T>G	c.(2068-2070)Tac>Gac	p.Y690D	CSMD1_ENST00000602723.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y690D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	690	CUB 4.					integral to membrane		p.Y689D(1)|p.Y418D(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACTGGTGTAAGTGATGTTG	0.443000													3	20					0	0	0.004672	0	0
PDE11A	50940	broad.mit.edu	37	2	178936786	178936786	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:178936786G>A	ENST00000286063.5	-	1	696	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	127					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R127C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCCTTGGAGCGGGCAAAACTC	0.607000									Primary Pigmented Nodular Adrenocortical Disease, Familial				5	144					0	0	0.001168	0	0
GCC1	79571	broad.mit.edu	37	7	127225205	127225205	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:127225205C>T	ENST00000321407.2	-	1	456	c.32G>A	c.(31-33)gGc>gAc	p.G11D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	11						Golgi membrane|plasma membrane	protein binding	p.G11D(1)		breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTTGCTCGGGCCGCCCCCGAA	0.572000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	14	115					0	0	0.004007	0	0
SPAG16	79582	broad.mit.edu	37	2	214794784	214794784	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:214794784G>T	ENST00000331683.5	+	12	1410	c.1315G>T	c.(1315-1317)Gtg>Ttg	p.V439L	SPAG16_ENST00000374309.3_Missense_Mutation_p.V345L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	439					cilium assembly	cilium axoneme|flagellar axoneme		p.V439L(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CAGCCGCGCAGTGTGGTCCTG	0.438000													18	153					3.73808e-20	5.9797e-20	0.005443	1	0
CXorf21	80231	broad.mit.edu	37	X	30578175	30578175	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:30578175C>A	ENST00000378962.3	-	3	620	c.298G>T	c.(298-300)Gtt>Ttt	p.V100F		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	100								p.V100F(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						CATATTTCAACTGCAGCCAAG	0.443000													7	222					0.00198382	0.00215952	0.001984	1	0
C20orf24	55969	broad.mit.edu	37	20	35236149	35236149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:35236149G>T	ENST00000344795.3	+	2	364	c.146G>T	c.(145-147)cGa>cTa	p.R49L	C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24									p.R49L(2)		breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TACTGGTTCCGACAGATCATT	0.423000													20	170					1.10923e-09	1.51699e-09	0.002780	1	0
EFNB1	1947	broad.mit.edu	37	X	68060320	68060320	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:68060320C>T	ENST00000204961.4	+	5	1644	c.864C>T	c.(862-864)ccC>ccT	p.P288P		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	288					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.P288P(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						TGGCCAGTCCCAAGGGGGGCA	0.607000													4	18					0	0	0.009096	0	0
CAPS2	84698	broad.mit.edu	37	12	75692486	75692486	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:75692486C>A	ENST00000393284.3	-	11	987	c.386G>T	c.(385-387)cGa>cTa	p.R129L	CAPS2_ENST00000409799.1_Missense_Mutation_p.R279L|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.R361L|CAPS2_ENST00000442339.2_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	361							calcium ion binding	p.R129L(1)|p.R361L(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						ATCACCAAGTCGGTATTGTTT	0.378000													25	34					4.7796e-09	6.39256e-09	0.004656	1	0
UGT2A3	79799	broad.mit.edu	37	4	69796477	69796477	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:69796477G>T	ENST00000251566.4	-	5	1121	c.1091C>A	c.(1090-1092)cCc>cAc	p.P364H	UGT2A3_ENST00000420231.2_Missense_Mutation_p.P75H	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	364						integral to membrane	glucuronosyltransferase activity	p.P364H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTTGGTTTTGGGATGACCTAG	0.358000													9	44					1.11149e-13	1.66552e-13	0.008291	1	0
RBM15	64783	broad.mit.edu	37	1	110883749	110883749	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110883749A>T	ENST00000369784.3	+	1	2622	c.1722A>T	c.(1720-1722)agA>agT	p.R574S	RBM15_ENST00000487146.2_Missense_Mutation_p.R574S|RBM15_ENST00000602849.1_Missense_Mutation_p.R574S	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	574					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.R574S(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TACTATACAGAGATCGTGATA	0.552000			T	MKL1	acute megakaryocytic leukemia								13	49					0	0	0.003163	0	0
C17orf67	339210	broad.mit.edu	37	17	54892331	54892331	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:54892331C>T	ENST00000397861.2	-	6	1335		c.e6-1		C17orf67_ENST00000575658.1_Splice_Site|C17orf67_ENST00000397862.2_Splice_Site			Q0P5P2	CQ067_HUMAN	chromosome 17 open reading frame 67							extracellular region		p.?(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					GGGGAGGTCTCTGGAAAAGTC	0.502000													14	514					0	0	0.001855	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129413	248129413	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248129413G>A	ENST00000366480.3	+	1	879	c.780G>A	c.(778-780)ctG>ctA	p.L260L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L260L(1)		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)			CCTCCCACCTGATTGTGGCAA	0.493000													37	58					0	0	0.004289	0	0
F5	2153	broad.mit.edu	37	1	169484771	169484771	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:169484771C>G	ENST00000367796.3	-	24	6655	c.6454G>C	c.(6454-6456)Gaa>Caa	p.E2152Q	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.E2147Q			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2147	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.E2147Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACATACATTTCAGAGGACAGA	0.433000													28	297					0	0	0.004656	0	0
HFM1	164045	broad.mit.edu	37	1	91740287	91740287	+	Splice_Site	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:91740287C>G	ENST00000370425.3	-	33	3766	c.3668_splice	c.e33+1	p.R1223_splice	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Splice_Site_p.R902_splice|HFM1_ENST00000294696.5_Splice_Site_p.R455_splice	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1223							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1223T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATATTTGTACCTTGATATACT	0.323000													4	22					0	0	0.000602	0	0
PLXNA4	91584	broad.mit.edu	37	7	132174174	132174174	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:132174174G>T	ENST00000359827.3	-	3	2210	c.1248C>A	c.(1246-1248)tcC>tcA	p.S416S	PLXNA4_ENST00000321063.4_Silent_p.S416S|PLXNA4_ENST00000423507.2_Silent_p.S416S|PLXNA4_ENST00000378539.5_Silent_p.S416S			Q9HCM2	PLXA4_HUMAN	plexin A4	416	Sema.					integral to membrane|intracellular|plasma membrane		p.S416S(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCACCATGTCGGACACTCCCA	0.493000													15	31					4.7546e-09	6.36789e-09	0.004007	1	0
FAM175A	84142	broad.mit.edu	37	4	84391519	84391519	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:84391519G>C	ENST00000321945.7	-	5	421	c.313C>G	c.(313-315)Cat>Gat	p.H105D	FAM175A_ENST00000506553.1_Missense_Mutation_p.H56D|FAM175A_ENST00000505489.1_5'UTR	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	105	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	p.H105Y(1)|p.H105D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGATCTGAATGACGACGGAAT	0.333000													5	155					0	0	0.001168	0	0
BTBD11	121551	broad.mit.edu	37	12	108051444	108051444	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:108051444C>G	ENST00000280758.5	+	17	3792	c.3264C>G	c.(3262-3264)gcC>gcG	p.A1088A	BTBD11_ENST00000420571.2_Silent_p.A969A|BTBD11_ENST00000357167.4_Silent_p.A625A|BTBD11_ENST00000494235.2_Silent_p.A167A	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	1088						integral to membrane	DNA binding	p.A1088A(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGACGTTGGCCATCAGAATTC	0.512000													5	111					0	0	0.001168	0	0
SORBS3	10174	broad.mit.edu	37	8	22414373	22414373	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:22414373G>A	ENST00000240123.7	+	4	749	c.366G>A	c.(364-366)gaG>gaA	p.E122E	SORBS3_ENST00000523402.1_Silent_p.E122E	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	122	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding	p.E122E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		TCAAGTACGAGGGAATCGGGC	0.652000													6	72					0	0	0.006214	0	0
NHLH1	4807	broad.mit.edu	37	1	160340530	160340530	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:160340530C>T	ENST00000302101.5	+	2	455	c.9C>T	c.(7-9)ctC>ctT	p.L3L		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	3					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L3L(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCATGATGCTCAACTCAGACA	0.662000													27	25					0	0	0.003271	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220345290	220345290	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:220345290A>T	ENST00000358951.2	-	23	2634	c.2518T>A	c.(2518-2520)Tct>Act	p.S840T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	840					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.S840T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		ACATGCGCAGACAACAGAGCG	0.493000													50	59					0	0	0.003610	0	0
MADD	8567	broad.mit.edu	37	11	47307001	47307001	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:47307001G>T	ENST00000342922.4	+	14	2768		c.e14-1		MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain						activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.?(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGCATTCAAGGGCTCAAAAG	0.547000													34	249					1.36161e-19	2.16034e-19	0.004289	1	0
DBF4B	80174	broad.mit.edu	37	17	42828116	42828116	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:42828116C>A	ENST00000315005.3	+	14	1481	c.1343C>A	c.(1342-1344)cCa>cAa	p.P448Q	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	448					cell cycle	nucleus	nucleic acid binding|zinc ion binding	p.P448Q(1)		kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTCCCTGCCCAGCCTCCTTT	0.622000													27	54					1.7881e-09	2.43172e-09	0.008361	1	0
OR5H14	403273	broad.mit.edu	37	3	97868308	97868308	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:97868308C>T	ENST00000437310.1	+	1	139	c.79C>T	c.(79-81)Ctg>Ttg	p.L27L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)|p.L27M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAATACCCCTGTTCCTGGC	0.418000													43	272					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179432976	179432976	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179432976G>A	ENST00000589042.1	-	326	78107	c.77883C>T	c.(77881-77883)taC>taT	p.Y25961Y	TTN_ENST00000342175.6_Silent_p.Y17088Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Y16896Y|TTN_ENST00000342992.6_Silent_p.Y23393Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.Y24320Y|TTN_ENST00000359218.5_Silent_p.Y17021Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24320	Fibronectin type-III 89.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Y23391Y(1)|p.Y16896Y(1)|p.Y17021Y(1)|p.Y23393Y(1)|p.Y17088Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTAAATTGGTATTCTGTAC	0.403000													21	147					0	0	0.002299	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44386499	44386499	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:44386499G>T	ENST00000262915.3	+	12	1321	c.1144G>T	c.(1144-1146)Ggc>Tgc	p.G382C	ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.G297C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.G351C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.G283C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.G351C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.G282C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.G382C|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.G328C|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.G313C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.G282C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	313					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity	p.G382C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GGCACTACACGGCTGTGACGA	0.577000													4	73					3.59834e-05	4.2147e-05	0.001168	1	0
OR51B2	79345	broad.mit.edu	37	11	5345488	5345488	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5345488C>G	ENST00000328813.2	-	1	94	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G14R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTGGAAAGCCAGTCAGCAAA	0.488000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	52					0	0	0.003080	0	0
TEP1	7011	broad.mit.edu	37	14	20852618	20852618	+	Missense_Mutation	SNP	C	C	A	rs147687706	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20852618C>A	ENST00000262715.5	-	23	3311	c.3271G>T	c.(3271-3273)Ggg>Tgg	p.G1091W	TEP1_ENST00000556935.1_Missense_Mutation_p.G983W	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1091					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.G1091W(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCTCCAGCCCGCCAACATAG	0.592000													8	237					0.00621372	0.00663753	0.006214	1	0
FCRL5	83416	broad.mit.edu	37	1	157485511	157485511	+	Missense_Mutation	SNP	G	G	T	rs140845798	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:157485511G>T	ENST00000361835.3	-	17	3045	c.2888C>A	c.(2887-2889)cCg>cAg	p.P963Q	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.P963Q	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	963						integral to membrane|plasma membrane	receptor activity	p.P963K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCCGGAAACCGGGGTTGACGC	0.587000													41	509					4.33383e-22	7.13246e-22	0.003610	1	0
CBLB	868	broad.mit.edu	37	3	105464841	105464841	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:105464841C>A	ENST00000264122.4	-	6	1086	c.765G>T	c.(763-765)gtG>gtT	p.V255V	CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.V255V|CBLB_ENST00000394027.3_Silent_p.V277V|CBLB_ENST00000403724.1_Silent_p.V255V	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	255	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding	p.V255V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGGATGTGTCACAGCTAAGA	0.333000			Mis S		AML								21	164					8.10497e-08	1.03962e-07	0.010504	1	0
GPR179	440435	broad.mit.edu	37	17	36499029	36499029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:36499029G>T	ENST00000342292.4	-	1	664	c.644C>A	c.(643-645)cCg>cAg	p.P215Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	215						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P215Q(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATCTGCCTGCGGCCACTTGGG	0.627000													30	84					9.39024e-22	1.535e-21	0.009718	1	0
C1orf222	339457	broad.mit.edu	37	1	1919949	1919949	+	Splice_Site	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:1919949A>T	ENST00000434971.2	-	4	329		c.e4+1					Q69YW0	CA222_HUMAN	chromosome 1 open reading frame 222									p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCCCAGCTCACCTCATCTTC	0.602000													24	61					0	0	0.002780	0	0
BMP3	651	broad.mit.edu	37	4	81967195	81967195	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:81967195G>T	ENST00000282701.2	+	2	940	c.620G>T	c.(619-621)aGg>aTg	p.R207M		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	207					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R207M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CAACTCTTGAGGAAGGCCAAA	0.438000													35	304					9.17885e-22	1.50552e-21	0.003271	1	0
ZNF208	7757	broad.mit.edu	37	19	22155159	22155159	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:22155159C>A	ENST00000397126.4	-	4	2825	c.2677G>T	c.(2677-2679)Gaa>Taa	p.E893*	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.E793*(2)|p.E893*(1)		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)				TTGCCACATTCTTCACATTTG	0.383000													5	75					2.0095e-06	2.46056e-06	0.001984	1	0
TTLL2	83887	broad.mit.edu	37	6	167754801	167754801	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:167754801G>A	ENST00000239587.5	+	3	1501	c.1413G>A	c.(1411-1413)gtG>gtA	p.V471V		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	471					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.V471V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGACTCTGTGGTGGAGAAAG	0.507000													13	99					0	0	0.004007	0	0
WASL	8976	broad.mit.edu	37	7	123346396	123346396	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:123346396T>C	ENST00000223023.4	-	4	703	c.371A>G	c.(370-372)gAa>gGa	p.E124G		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	124	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity	p.E124G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCTTCTTCTTCATTGGCAAA	0.333000													6	38					0	0	0.001984	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179887338	179887338	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:179887338A>T	ENST00000435319.3	+	10	1907	c.1716A>T	c.(1714-1716)caA>caT	p.Q572H	TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.Q588H	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	572						integral to membrane|nuclear inner membrane		p.Q572H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TGCCTGTGCAACCTGAAAATG	0.433000													14	126					0	0	0.007413	0	0
PCDH15	65217	broad.mit.edu	37	10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:55582700C>A	ENST00000361849.3	-	34	5186	c.4792G>T	c.(4792-4794)Gat>Tat	p.D1598Y	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					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	p.D1596Y(1)		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)				TGCTGCAGATCTATGATCTCT	0.468000										HNSCC(58;0.16)			7	246					8.12818e-05	9.41822e-05	0.001984	1	0
C11orf82	220042	broad.mit.edu	37	11	82625869	82625869	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:82625869C>G	ENST00000533655.1	+	3	301	c.89C>G	c.(88-90)tCt>tGt	p.S30C	C11orf82_ENST00000528759.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525361.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525388.1_Missense_Mutation_p.S30C|C11orf82_ENST00000524921.1_Missense_Mutation_p.S30C|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S30C	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	30					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.S30C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						AAGTGCTTCTCTAGGATAATC	0.403000													26	110					0	0	0.003330	0	0
DNAH5	1767	broad.mit.edu	37	5	13824339	13824339	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:13824339C>A	ENST00000265104.4	-	39	6652	c.6548G>T	c.(6547-6549)cGt>cTt	p.R2183L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2183					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2183L(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCGTAGTACACGCATGACAAT	0.448000									Kartagener syndrome				21	67					5.26018e-13	7.80984e-13	0.001882	1	0
OR5L1	219437	broad.mit.edu	37	11	55579236	55579236	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55579236G>A	ENST00000333973.2	+	1	383	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.453000													9	322					0	0	0.006214	0	0
MCM6	4175	broad.mit.edu	37	2	136633884	136633884	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:136633884C>T	ENST00000264156.2	-	1	112	c.52G>A	c.(52-54)Gtc>Atc	p.V18I		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	18					cell cycle checkpoint|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	MCM complex	ATP binding|identical protein binding	p.V18I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCGTCGCGGACCTCCAGGTGC	0.692000													4	32					0	0	0.000602	0	0
ANKEF1	63926	broad.mit.edu	37	20	10033801	10033801	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:10033801A>G	ENST00000378380.3	+	8	2241	c.1912A>G	c.(1912-1914)Aga>Gga	p.R638G	SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R638G|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1									p.R638G(1)									TGCTGATTATAGAATAATTGA	0.348000													5	210					0	0	0.001168	0	0
NXPE1	120400	broad.mit.edu	37	11	114401032	114401032	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:114401032T>C	ENST00000536312.1	-	6	1590	c.698A>G	c.(697-699)tAt>tGt	p.Y233C	NXPE1_ENST00000251921.2_Missense_Mutation_p.Y91C|NXPE1_ENST00000424269.1_Missense_Mutation_p.Y233C					neurexophilin and PC-esterase domain family, member 1									p.Y91C(1)									GTCATCCAGATATTCACAGAG	0.423000													5	135					0	0	0.001168	0	0
ZNF649	65251	broad.mit.edu	37	19	52394116	52394116	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52394116T>C	ENST00000354957.3	-	5	1557	c.1273A>G	c.(1273-1275)Acg>Gcg	p.T425A	CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.T397A	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T425A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTCTCTCCCGTGTGAGTTCTG	0.428000													50	309					0	0	0.003610	0	0
ARID3C	138715	broad.mit.edu	37	9	34623453	34623453	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:34623453G>T	ENST00000378909.2	-	4	926	c.834C>A	c.(832-834)tgC>tgA	p.C278*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.C278*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		TCAGCTGAGCGCATGCATGCG	0.637000													57	221					2.19297e-23	3.67767e-23	0.003610	1	0
CXorf22	170063	broad.mit.edu	37	X	35993266	35993266	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:35993266C>A	ENST00000297866.5	+	14	2323	c.2257C>A	c.(2257-2259)Cct>Act	p.P753T		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	753								p.P753T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTTTTCAGGGCCTTCTGTCCT	0.289000													13	32					4.36969e-10	6.06138e-10	0.001855	1	0
TMEM107	84314	broad.mit.edu	37	17	8079332	8079332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:8079332G>A	ENST00000532998.1	-	2	186	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000431792.2_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000316425.5_Nonsense_Mutation_p.Q34*			Q6UX40	TM107_HUMAN	transmembrane protein 107	34						integral to membrane		p.Q34*(1)		large_intestine(1)|lung(4)|ovary(1)	6						AGGCAGGCCTGTATGTTGCTG	0.607000													5	93					0	0	0.000602	0	0
ALK	238	broad.mit.edu	37	2	29917881	29917881	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:29917881C>T	ENST00000389048.3	-	3	1694		c.e3-1		ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase						protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.?(2)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CACTCCAGACCTGCAATAATA	0.552000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				22	85					0	0	0.006320	0	0
LTBP1	4052	broad.mit.edu	37	2	33359867	33359867	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:33359867C>A	ENST00000404816.2	+	5	1394	c.1041C>A	c.(1039-1041)aaC>aaA	p.N347K	LTBP1_ENST00000390003.4_Missense_Mutation_p.N21K|LTBP1_ENST00000354476.3_Missense_Mutation_p.N347K|LTBP1_ENST00000407925.1_Missense_Mutation_p.N21K|LTBP1_ENST00000418533.2_Missense_Mutation_p.N21K|LTBP1_ENST00000402934.1_Missense_Mutation_p.N21K|LTBP1_ENST00000404525.1_Missense_Mutation_p.N21K			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	347					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	p.N347K(1)		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)				TAGTGAGTAACCACACTGGCC	0.473000													14	86					1.5739e-10	2.2213e-10	0.004007	1	0
LRP1B	53353	broad.mit.edu	37	2	141108580	141108580	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:141108580G>T	ENST00000389484.3	-	77	12649	c.11678C>A	c.(11677-11679)gCt>gAt	p.A3893D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3893					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.A3893D(1)		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)		AGTGTCATTAGCAATGTAGAG	0.289000										TSP Lung(27;0.18)			38	83					2.26627e-22	3.73608e-22	0.007835	1	0
AASS	10157	broad.mit.edu	37	7	121738539	121738539	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:121738539C>T	ENST00000393376.1	-	14	1715	c.1620G>A	c.(1618-1620)ctG>ctA	p.L540L	AASS_ENST00000417368.2_Silent_p.L540L|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	540	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.L540L(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCAAGAAGCCCAGCTTCTCTT	0.338000													6	72					0	0	0.001984	0	0
PSTPIP2	9050	broad.mit.edu	37	18	43619913	43619913	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:43619913C>A	ENST00000409746.5	-	2	205	c.134_splice	c.e2+1	p.R45_splice	PSTPIP2_ENST00000589328.1_Splice_Site_p.R45_splice|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	45	FCH.					membrane		p.R45M(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						ATCATCGTACCTTTCTTTTAG	0.428000													24	171					2.44723e-14	3.68413e-14	0.004656	1	0
PLA2G2F	64600	broad.mit.edu	37	1	20474888	20474888	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:20474888T>A	ENST00000375102.3	+	5	732	c.630T>A	c.(628-630)ccT>ccA	p.P210P		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	167					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.P210P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCCCCGCCCCTCCCTAGAGCC	0.652000													8	36					0	0	0.006214	0	0
AZGP1	563	broad.mit.edu	37	7	99565973	99565973	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:99565973C>T	ENST00000411734.1	-	3	414	c.409G>A	c.(409-411)Gat>Aat	p.D137N	AZGP1_ENST00000292401.4_Missense_Mutation_p.D140N			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	140					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	p.D140N(1)		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)					TCCTTTCCATCATAGTAATAT	0.498000													8	474					0	0	0.004482	0	0
CSMD3	114788	broad.mit.edu	37	8	113988189	113988189	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113988189C>A	ENST00000297405.5	-	7	1463	c.1219G>T	c.(1219-1221)Gac>Tac	p.D407Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D367Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D407Y|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	407						integral to membrane|plasma membrane		p.D407Y(1)|p.D367Y(1)		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						GTGTTGGGGTCCAGACCTGAA	0.478000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	162					3.86212e-05	4.50194e-05	0.008291	1	0
RET	5979	broad.mit.edu	37	10	43596063	43596063	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:43596063G>T	ENST00000355710.3	+	2	462	c.230G>T	c.(229-231)cGc>cTc	p.R77L	RET_ENST00000340058.5_Missense_Mutation_p.R77L	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	77			R -> C (in HSCR1).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R77H(1)|p.R77L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGCACGTACCGCACACGGCTG	0.642000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				12	20					3.07112e-06	3.73223e-06	0.000978	1	0
BLVRB	645	broad.mit.edu	37	19	40957343	40957343	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:40957343C>T	ENST00000263368.4	-	4	542	c.391G>A	c.(391-393)Gac>Aac	p.D131N	BLVRB_ENST00000595483.1_Intron	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	131					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity	p.D131N(1)		large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	CGGATGTGGTCATCAGTCACA	0.607000													4	28					0	0	0.001168	0	0
BNC2	54796	broad.mit.edu	37	9	16552765	16552765	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:16552765T>A	ENST00000380672.4	-	5	491		c.e5-2		BNC2_ENST00000380666.2_Splice_Site|BNC2_ENST00000380667.2_Splice_Site|BNC2_ENST00000545497.1_Splice_Site	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.?(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TATCCAAGGCTGTGGTGGTCC	0.512000													13	43					0	0	0.001855	0	0
SPG11	80208	broad.mit.edu	37	15	44905680	44905680	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:44905680G>C	ENST00000261866.7	-	17	3109	c.3093C>G	c.(3091-3093)caC>caG	p.H1031Q	SPG11_ENST00000535302.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.H1031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1031					cell death	cytosol|integral to membrane|nucleus	protein binding	p.H1031Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAAACCAAGGGTGTGCTTCAT	0.343000													11	52					0	0	0.000978	0	0
OR2L3	391192	broad.mit.edu	37	1	248224332	248224332	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248224332A>G	ENST00000359959.3	+	1	349	c.349A>G	c.(349-351)Atg>Gtg	p.M117V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M117V(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TTTGGCATCTATGGCCTATGA	0.438000													6	410					0	0	0.001984	0	0
OR5D14	219436	broad.mit.edu	37	11	55563765	55563765	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55563765C>T	ENST00000335605.1	+	1	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S245F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACCTGGGCCTCCCACCTGACT	0.463000													19	126					0	0	0.002780	0	0
GRM1	2911	broad.mit.edu	37	6	146720216	146720216	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:146720216C>G	ENST00000392299.2	+	8	2511	c.2041C>G	c.(2041-2043)Cgt>Ggt	p.R681G	GRM1_ENST00000492807.2_Missense_Mutation_p.R681G|GRM1_ENST00000355289.4_Missense_Mutation_p.R681G|GRM1_ENST00000507907.1_Missense_Mutation_p.R681G|GRM1_ENST00000282753.1_Missense_Mutation_p.R681G|GRM1_ENST00000361719.2_Missense_Mutation_p.R681G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	681					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R681G(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TAAAACCAATCGTATTGCACG	0.527000													5	376					0	0	0.000602	0	0
SP140	11262	broad.mit.edu	37	2	231177387	231177387	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:231177387T>A	ENST00000392045.3	+	27	2706	c.2592T>A	c.(2590-2592)aaT>aaA	p.N864K	SP140_ENST00000343805.6_Missense_Mutation_p.N804K|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.N837K|SP140_ENST00000417495.3_Missense_Mutation_p.N750K|SP140_ENST00000350136.5_Missense_Mutation_p.N733K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	864					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N864K(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGGAAACAAATGGGAACAATT	0.398000													17	154					0	0	0.004007	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655228	31655228	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:31655228G>T	ENST00000340345.4	-	1	48	c.23C>A	c.(22-24)aCt>aAt	p.T8N		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	8						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						ATAGCCTGTAGTAGACATGGA	0.493000													8	29					9.70103e-10	1.33423e-09	0.008291	1	0
HFM1	164045	broad.mit.edu	37	1	91742226	91742226	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:91742226T>A	ENST00000370425.3	-	32	3645	c.3547A>T	c.(3547-3549)Agg>Tgg	p.R1183W	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R862W|HFM1_ENST00000294696.5_Missense_Mutation_p.R415W	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1183							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R1183W(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ACAGCATTCCTGTTTCTTAAA	0.294000													5	24					0	0	0.001984	0	0
LAMA2	3908	broad.mit.edu	37	6	129833584	129833584	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:129833584G>A	ENST00000421865.2	+	63	8983	c.8934G>A	c.(8932-8934)ctG>ctA	p.L2978L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2978	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2978L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAGTTCTTCTGGGGATCAGTA	0.358000													21	225					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179440938	179440938	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179440938C>A	ENST00000589042.1	-	326	70145	c.69921G>T	c.(69919-69921)caG>caT	p.Q23307H	TTN_ENST00000342175.6_Missense_Mutation_p.Q14434H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q14242H|TTN_ENST00000342992.6_Missense_Mutation_p.Q20739H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q21666H|TTN_ENST00000359218.5_Missense_Mutation_p.Q14367H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21666	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q14242H(1)|p.Q14367H(1)|p.Q20739H(1)|p.Q14434H(1)|p.Q20737H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTTAGTCTGAAGATCAG	0.473000													11	90					0.00010058	0.000116266	0.001368	1	0
FAM81B	153643	broad.mit.edu	37	5	94727200	94727200	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:94727200C>A	ENST00000283357.5	+	1	153	c.107C>A	c.(106-108)gCa>gAa	p.A36E		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	36								p.A36E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCTGGAAAAGCAAGCATCATG	0.299000													13	95					2.32078e-09	3.14293e-09	0.003163	1	0
FBXL7	23194	broad.mit.edu	37	5	15928063	15928063	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:15928063C>A	ENST00000504595.1	+	3	673	c.192C>A	c.(190-192)ctC>ctA	p.L64L	FBXL7_ENST00000510662.1_Silent_p.L17L|FBXL7_ENST00000329673.7_Silent_p.L52L	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	64					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L64L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CACCGAATCTCCCAGGATTTC	0.607000													7	100					4.68919e-08	6.07094e-08	0.008291	1	0
OTX1	5013	broad.mit.edu	37	2	63283009	63283009	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:63283009G>A	ENST00000366671.3	+	5	899	c.623G>A	c.(622-624)cGc>cAc	p.R208H	OTX1_ENST00000282549.2_Missense_Mutation_p.R208H	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	208						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R208H(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGTATGCAGCGCTCCGTAGCT	0.682000													3	7					0	0	0.004672	0	0
CES5A	221223	broad.mit.edu	37	16	55883641	55883641	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:55883641G>T	ENST00000521992.1	-	12	1550	c.1405C>A	c.(1405-1407)Cag>Aag	p.Q469K	CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.Q440K|CES5A_ENST00000518005.1_Missense_Mutation_p.Q334K|CES5A_ENST00000520435.1_Missense_Mutation_p.Q410K|CES5A_ENST00000319165.9_Intron	NM_001190158.1	NP_001177087.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	440						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.Q469K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TCAAAGCACTGAGGCCGGTGC	0.557000													10	37					1.52009e-12	2.23638e-12	0.003163	1	0
IL10RB	3588	broad.mit.edu	37	21	34640770	34640770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:34640770G>T	ENST00000290200.2	+	2	229	c.121G>T	c.(121-123)Gag>Tag	p.E41*	AP000295.9_ENST00000433395.2_Silent_p.G168G	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta									p.E41*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TCTACAGTGGGAGTCACCTGC	0.458000													13	53					5.50884e-06	6.63658e-06	0.001368	1	0
SNHG14	104472715	broad.mit.edu	37	15	25422001	25422001	+	RNA	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:25422001A>G	ENST00000441592.2	+	0	224				SNORD115-4_ENST00000363810.1_RNA																							AGAACTTTATATTGTTCTGAA	0.527000													57	184					0	0	0.003610	0	0
ZFP82	284406	broad.mit.edu	37	19	36884792	36884792	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:36884792A>G	ENST00000392161.3	-	5	692	c.450T>C	c.(448-450)tcT>tcC	p.S150S	ZFP82_ENST00000392171.1_Silent_p.S150S	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S150S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTTCTGGTAAGAGGACACCT	0.418000													35	114					0	0	0.003755	0	0
TG	7038	broad.mit.edu	37	8	133941335	133941335	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:133941335G>C	ENST00000220616.4	+	23	4754	c.4714G>C	c.(4714-4716)Gag>Cag	p.E1572Q	TG_ENST00000542445.1_Missense_Mutation_p.E6Q|TG_ENST00000377869.1_Missense_Mutation_p.E1515Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1572					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.E1572Q(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCAGAAGTTTGAGAAGGTTCC	0.453000													4	130					0	0	0.000602	0	0
TGM4	7047	broad.mit.edu	37	3	44951615	44951615	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:44951615C>T	ENST00000296125.4	+	11	1429	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	454					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A454V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATGGATCATGCCTTCCTCCTT	0.507000													9	40					0	0	0.006214	0	0
ENTHD1	150350	broad.mit.edu	37	22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:40283548G>A	ENST00000325157.6	-	2	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	69	ENTH.							p.R69C(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403000													6	248					0	0	0.001984	0	0
COL3A1	1281	broad.mit.edu	37	2	189862452	189862452	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:189862452A>G	ENST00000304636.3	+	27	2066	c.1896A>G	c.(1894-1896)acA>acG	p.T632T	COL3A1_ENST00000317840.5_Silent_p.T632T	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	632	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.T632T(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAGGAGACACAGGACCCCCTG	0.373000													6	54					0	0	0.001168	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317933	30317933	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:30317933C>A	ENST00000375377.1	-	3	1245	c.1144G>T	c.(1144-1146)Gcc>Tcc	p.A382S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	382	Pro-rich.							p.A382S(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGACCGCTGGCCCCAGCCTTC	0.632000													54	119					7.77372e-23	1.29473e-22	0.003610	1	0
SV2A	9900	broad.mit.edu	37	1	149881030	149881030	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:149881030A>G	ENST00000369146.3	-	7	1763	c.1273T>C	c.(1273-1275)Ttg>Ctg	p.L425L	SV2A_ENST00000369145.1_Silent_p.L425L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	425					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.L425L(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CCTAGGCTCAAGGCCCGGACC	0.562000													81	61					0	0	0.003610	0	0
PAPSS1	9061	broad.mit.edu	37	4	108552980	108552980	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:108552980C>A	ENST00000265174.4	-	11	1815	c.1543G>T	c.(1543-1545)Gcc>Tcc	p.A515S		NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	515					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity	p.A515S(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TAAAAGTTGGCTCCTGCAACC	0.433000													6	40					0.00198382	0.00215952	0.001984	1	0
SAMD9	54809	broad.mit.edu	37	7	92733059	92733059	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:92733059C>A	ENST00000379958.2	-	3	2621	c.2352G>T	c.(2350-2352)ggG>ggT	p.G784G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	784						cytoplasm		p.G784G(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTCATTGCCCCATAGGTGA	0.388000													37	168					2.52637e-11	3.6235e-11	0.005524	1	0
PNLIP	5406	broad.mit.edu	37	10	118314780	118314780	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118314780C>A	ENST00000369221.2	+	7	690	c.662C>A	c.(661-663)aCg>aAg	p.T221K		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	221					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.T221K(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GTAATTCACACGGATGGTGCC	0.483000													11	96					1.08611e-07	1.37858e-07	0.000978	1	0
LMOD3	56203	broad.mit.edu	37	3	69168667	69168667	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:69168667T>C	ENST00000420581.2	-	2	1018	c.839A>G	c.(838-840)aAa>aGa	p.K280R	LMOD3_ENST00000489031.1_Missense_Mutation_p.K280R|LMOD3_ENST00000475434.1_Missense_Mutation_p.K280R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	280						cytoplasm|cytoskeleton	tropomyosin binding	p.K280R(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GTGCTTGTTTTTCTTCATTGC	0.388000													21	127					0	0	0.001882	0	0
VPS4B	9525	broad.mit.edu	37	18	61077680	61077680	+	Splice_Site	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:61077680C>G	ENST00000238497.5	-	3	343		c.e3-1		VPS4B_ENST00000591519.1_Splice_Site	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)						cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding	p.?(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						TGTGCTTCATCTATTAAAGGG	0.318000													10	190					0	0	0.000978	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291632	1291632	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:1291632C>A	ENST00000461509.2	+	3	646	c.452C>A	c.(451-453)cCt>cAt	p.P151H	TPSAB1_ENST00000338844.3_Missense_Mutation_p.P144H			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	144	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.P144H(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				ACCCTGCCCCCTGCCTCAGAG	0.672000													3	12					0.00116845	0.00129221	0.001168	1	0
TMEM132A	54972	broad.mit.edu	37	11	60703933	60703933	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:60703933C>G	ENST00000005286.4	+	11	2782	c.2629C>G	c.(2629-2631)Cag>Gag	p.Q877E	TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q876E	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	876	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.Q877E(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTGCGCTATCAGCGCAAAGA	0.607000													7	194					0	0	0.001984	0	0
LPHN3	23284	broad.mit.edu	37	4	62775373	62775373	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:62775373G>T	ENST00000512091.1	+	11	2526	c.1779G>T	c.(1777-1779)cgG>cgT	p.R593R	LPHN3_ENST00000507164.1_Silent_p.R661R|LPHN3_ENST00000506720.1_Silent_p.R661R|LPHN3_ENST00000545650.1_Silent_p.R593R|LPHN3_ENST00000506746.1_Silent_p.R661R|LPHN3_ENST00000508946.1_Silent_p.R593R|LPHN3_ENST00000514996.1_Silent_p.R593R|LPHN3_ENST00000511324.1_Silent_p.R661R|LPHN3_ENST00000514157.1_Silent_p.R593R|LPHN3_ENST00000508693.1_Silent_p.R661R|LPHN3_ENST00000509896.1_Silent_p.R661R|LPHN3_ENST00000506700.1_Silent_p.R593R|LPHN3_ENST00000514591.1_Silent_p.R593R|LPHN3_ENST00000507625.1_Silent_p.R661R|LPHN3_ENST00000504896.1_Silent_p.R593R			Q9HAR2	LPHN3_HUMAN	latrophilin 3	593					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R593R(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACTCTGTCCGGGCCATGGACC	0.507000													8	13					4.68919e-08	6.07094e-08	0.008291	1	0
SPATA22	84690	broad.mit.edu	37	17	3366057	3366057	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:3366057C>A	ENST00000573128.1	-	4	660	c.177G>T	c.(175-177)tgG>tgT	p.W59C	SPATA22_ENST00000268981.5_Missense_Mutation_p.W59C|SPATA22_ENST00000541913.1_Missense_Mutation_p.W43C|SPATA22_ENST00000572969.1_Missense_Mutation_p.W59C|SPATA22_ENST00000575375.1_Missense_Mutation_p.W59C|SPATA22_ENST00000397168.3_Missense_Mutation_p.W59C|SPATA22_ENST00000355380.4_Missense_Mutation_p.W16C			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	59								p.W59C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CTTCCCAGGCCCAATCTCAAA	0.338000													62	123					1.17253e-29	2.01509e-29	0.003610	1	0
SULF2	55959	broad.mit.edu	37	20	46305851	46305851	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:46305851G>T	ENST00000359930.4	-	9	2072	c.1221C>A	c.(1219-1221)gtC>gtA	p.V407V	SULF2_ENST00000484875.1_Silent_p.V407V|SULF2_ENST00000467815.1_Silent_p.V407V|SULF2_ENST00000361612.4_Silent_p.V407V	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	407					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.V407V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AGTCCCGCCAGACCCTCATCT	0.612000													26	99					1.4374e-25	2.44433e-25	0.003610	1	0
RAG1	5896	broad.mit.edu	37	11	36596535	36596535	+	Missense_Mutation	SNP	C	C	T	rs104894285		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:36596535C>T	ENST00000299440.5	+	2	1793	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	561			R -> C (in OS).|R -> H (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R561C(1)|p.R561S(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAGAGGTTCCGCTATGATTC	0.468000									Familial Hemophagocytic Lymphohistiocytosis				4	81					0	0	0.000602	0	0
SPAG9	9043	broad.mit.edu	37	17	49072464	49072464	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:49072464C>G	ENST00000262013.7	-	18	2388	c.2180G>C	c.(2179-2181)cGa>cCa	p.R727P	SPAG9_ENST00000510283.1_Missense_Mutation_p.R570P|SPAG9_ENST00000357122.4_Missense_Mutation_p.R713P|SPAG9_ENST00000505279.1_Missense_Mutation_p.R717P	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	727					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		p.R713P(1)|p.R713Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGAGGCACTTCGCTGTTTACT	0.398000													54	120					0	0	0.003610	0	0
PCDH10	57575	broad.mit.edu	37	4	134073068	134073068	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134073068C>A	ENST00000264360.4	+	1	2599	c.1773C>A	c.(1771-1773)ccC>ccA	p.P591P		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	591	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P591P(1)		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)		AGGTGCTGCCCCGCTCGGCGG	0.667000													20	23					3.62473e-10	5.04243e-10	0.001882	1	0
MRPL11	65003	broad.mit.edu	37	11	66204347	66204347	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:66204347C>A	ENST00000329819.4	-	5	586	c.507G>T	c.(505-507)aaG>aaT	p.K169N	MRPL11_ENST00000310999.7_Intron|MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron	NM_170739.2	NP_733935.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	0					translation		structural constituent of ribosome	p.K169N(1)		endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						TCATGGAGATCTTTCCATTTC	0.488000													17	145					1.99824e-07	2.51659e-07	0.004990	1	0
MAGI3	260425	broad.mit.edu	37	1	114189213	114189213	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:114189213T>G	ENST00000369615.1	+	12	2166	c.2104T>G	c.(2104-2106)Ttg>Gtg	p.L702V	MAGI3_ENST00000307546.9_Missense_Mutation_p.L702V|MAGI3_ENST00000369617.4_Missense_Mutation_p.L727V|MAGI3_ENST00000369611.4_Missense_Mutation_p.L702V	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	727					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.L702V(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-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)		ATCCCCAAAATTGGATCCTTC	0.383000													13	76					0	0	0.002450	0	0
CENPF	1063	broad.mit.edu	37	1	214819878	214819878	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:214819878A>C	ENST00000366955.3	+	13	7133	c.6965A>C	c.(6964-6966)cAa>cCa	p.Q2322P		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2418	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.Q2322P(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTGTCTTACAACAACTGAAG	0.453000													9	160					0	0	0.000978	0	0
TECRL	253017	broad.mit.edu	37	4	65146765	65146765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:65146765G>T	ENST00000381210.3	-	11	1068	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	TECRL_ENST00000507440.1_Missense_Mutation_p.L320M	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	320					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.L320M(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TTACCTGGCAGTGTTTGTGTC	0.279000													12	23					4.75885e-15	7.25407e-15	0.004990	1	0
XYLT1	64131	broad.mit.edu	37	16	17353089	17353089	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:17353089G>T	ENST00000261381.6	-	3	753	c.669C>A	c.(667-669)gcC>gcA	p.A223A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	223					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.A223A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTGGCTGCGGCTCTGTCCC	0.592000													34	165					3.62531e-18	5.65036e-18	0.004289	1	0
ZNF679	168417	broad.mit.edu	37	7	63726941	63726941	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:63726941C>T	ENST00000421025.1	+	5	1199	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ZNF679_ENST00000255746.4_Silent_p.S310S	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S310S(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TATCCTCATCCCTCACTTACC	0.423000													6	46					0	0	0.003080	0	0
MRC2	9902	broad.mit.edu	37	17	60768328	60768328	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:60768328A>T	ENST00000303375.5	+	28	4433	c.4031A>T	c.(4030-4032)cAg>cTg	p.Q1344L	MRC2_ENST00000446119.2_Missense_Mutation_p.Q210L	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1344	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding	p.Q1344L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGTCTGGCAGGACAACACA	0.607000													7	18					0	0	0.004482	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768314	77768314	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77768314A>T	ENST00000521891.2	+	10	9605	c.9157A>T	c.(9157-9159)Acc>Tcc	p.T3053S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3008S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3027S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3008S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3008	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T3037S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTTGGCTCCGACCACGGTTCG	0.507000										HNSCC(33;0.089)			53	86					0	0	0.003610	0	0
KIAA0408	9729	broad.mit.edu	37	6	127775032	127775032	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:127775032C>A	ENST00000483725.3	-	2	431	c.95G>T	c.(94-96)tGg>tTg	p.W32L	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	32							protein binding	p.W32L(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTGACTTTCCCATTCCTTTCT	0.373000													13	140					4.36969e-10	6.06138e-10	0.001855	1	0
ZMAT1	84460	broad.mit.edu	37	X	101138621	101138621	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:101138621A>C	ENST00000458570.1	-	9	2595	c.1265T>G	c.(1264-1266)cTt>cGt	p.L422R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.L593R|ZMAT1_ENST00000372782.3_Missense_Mutation_p.L593R|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	422						nucleus	zinc ion binding	p.L593R(1)|p.L422R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TCGATGCTTAAGCTTTCCTGA	0.373000													6	122					0	0	0.006214	0	0
DUSP27	92235	broad.mit.edu	37	1	167095983	167095983	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:167095983G>T	ENST00000361200.2	+	6	1781	c.1615G>T	c.(1615-1617)Gac>Tac	p.D539Y	DUSP27_ENST00000443333.1_Missense_Mutation_p.D539Y|DUSP27_ENST00000271385.5_Missense_Mutation_p.D539Y|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	539					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.D539Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGGAACAAGGACAAGCTCAC	0.552000													26	218					1.5548e-18	2.43502e-18	0.005443	1	0
CADM3	57863	broad.mit.edu	37	1	159166690	159166690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:159166690G>T	ENST00000368125.4	+	7	949	c.792G>T	c.(790-792)caG>caT	p.Q264H	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.Q298H|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	264	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.Q298H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GCCCCCAGCAGTACCTATGGG	0.527000													15	203					2.23348e-06	2.72794e-06	0.004007	1	0
CUBN	8029	broad.mit.edu	37	10	16878337	16878337	+	Silent	SNP	C	C	A	rs147563157		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:16878337C>A	ENST00000377833.4	-	63	10142	c.10077G>T	c.(10075-10077)tcG>tcT	p.S3359S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3359	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.A3360S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGGCACAGCCGAAGCATTTC	0.393000													10	97					3.86212e-05	4.50194e-05	0.008291	1	0
ZNF607	84775	broad.mit.edu	37	19	38190487	38190487	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:38190487G>C	ENST00000355202.4	-	5	1140	c.545C>G	c.(544-546)cCt>cGt	p.P182R	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.P181R	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P182R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGGTTTGCAGGATAACTGAA	0.403000													13	159					0	0	0.001855	0	0
LRP2	4036	broad.mit.edu	37	2	170009461	170009461	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:170009461G>A	ENST00000263816.3	-	67	12594	c.12309C>T	c.(12307-12309)taC>taT	p.Y4103Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4103					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Y4103Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCGCACAGTGTAATACACAA	0.478000													77	230					0	0	0.003610	0	0
KDM1B	221656	broad.mit.edu	37	6	18166609	18166609	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:18166609G>T	ENST00000388870.2	+	6	658	c.417_splice	c.e6+1	p.W139_splice	KDM1B_ENST00000397244.1_Splice_Site_p.W139_splice|KDM1B_ENST00000297792.5_Splice_Site_p.W139_splice|KDM1B_ENST00000546309.2_Intron			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	139					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.W139C(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCCCCTACTGGGTAAGGAGAG	0.408000													11	54					2.27111e-07	2.84916e-07	0.001368	1	0
TOMM20L	387990	broad.mit.edu	37	14	58869474	58869474	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:58869474C>A	ENST00000360945.2	+	3	299	c.257C>A	c.(256-258)tCt>tAt	p.S86Y	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	86					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex		p.S86Y(1)		large_intestine(2)|lung(2)	4						CTTTGGTTATCTAGAGGTAAG	0.308000													21	113					4.26978e-12	6.20652e-12	0.003330	1	0
ETNPPL	64850	broad.mit.edu	37	4	109672168	109672168	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:109672168C>A	ENST00000296486.3	-	7	779	c.625G>T	c.(625-627)Gcc>Tcc	p.A209S	ETNPPL_ENST00000411864.2_Missense_Mutation_p.A203S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A151S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.A169S	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2			ethanolamine-phosphate phospho-lyase									p.A209S(1)									GCAATAAAGGCAGCAATCTAT	0.433000													59	94					6.12789e-21	9.93352e-21	0.003610	1	0
CCR8	1237	broad.mit.edu	37	3	39374243	39374243	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:39374243G>A	ENST00000326306.4	+	2	559	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	CCR8_ENST00000414803.1_Missense_Mutation_p.C83Y|CCR8_ENST00000545843.1_Missense_Mutation_p.A58T	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	141					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.A141N(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		TGCCGTGTATGCCCTAAAGGT	0.498000													37	251					0	0	0.006230	0	0
FGF21	26291	broad.mit.edu	37	19	49260247	49260247	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49260247G>T	ENST00000593756.1	+	3	872	c.300G>T	c.(298-300)agG>agT	p.R100S	FGF21_ENST00000222157.3_Missense_Mutation_p.R100S			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	100					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	p.R100S(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		AGACATCCAGGTTCCTGTGCC	0.562000													7	253					1.12685e-05	1.34419e-05	0.004482	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143913162	143913162	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:143913162C>G	ENST00000409869.1	+	3	280	c.103C>G	c.(103-105)Cat>Gat	p.H35D	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H35D			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	35					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.H35D(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAACAGCCACCATGACAGGCT	0.458000													10	71					0	0	0.006214	0	0
CSMD1	64478	broad.mit.edu	37	8	2965290	2965290	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2965290G>T	ENST00000520002.1	-	46	7343	c.6788C>A	c.(6787-6789)cCa>cAa	p.P2263Q	CSMD1_ENST00000602723.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2262Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2262Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2263Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2263	Sushi 13.					integral to membrane		p.P1991Q(1)|p.P2262Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGGAACCGCTGGGGGAGGTTG	0.333000													13	165					9.31168e-06	1.11488e-05	0.001855	1	0
CORIN	10699	broad.mit.edu	37	4	47663813	47663813	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:47663813C>A	ENST00000273857.4	-	12	1649	c.1650G>T	c.(1648-1650)caG>caT	p.Q550H	CORIN_ENST00000504584.1_Missense_Mutation_p.Q513H|CORIN_ENST00000508498.1_Missense_Mutation_p.Q411H|CORIN_ENST00000505909.1_Missense_Mutation_p.Q513H|CORIN_ENST00000502252.1_Missense_Mutation_p.Q483H	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	550	FZ 2.				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	p.Q550H(1)		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						CTTCAGGCCACTGTAGGCCCA	0.398000													14	47					3.27435e-08	4.26193e-08	0.002450	1	0
HPR	3250	broad.mit.edu	37	16	72110394	72110394	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:72110394C>A	ENST00000540303.2	+	5	493	c.461C>A	c.(460-462)gCa>gAa	p.A154E	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A154E|HPR_ENST00000228226.8_Missense_Mutation_p.A191E	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	154	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity	p.A154E(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCAGAAAATGCAACAGCGAAA	0.463000													16	40					6.44725e-10	8.90509e-10	0.002299	1	0
CERS3	204219	broad.mit.edu	37	15	100942989	100942989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:100942989C>A	ENST00000284382.4	-	13	1504	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000538112.2_Nonsense_Mutation_p.E361*|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Nonsense_Mutation_p.E361*	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	361						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.E361*(1)									CAATCCATCTCTTTGCCTTTG	0.493000													6	40					5.9392e-07	7.41255e-07	0.001168	1	0
ASIC4	55515	broad.mit.edu	37	2	220379622	220379622	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:220379622G>T	ENST00000358078.4	+	1	571	c.557G>T	c.(556-558)gGc>gTc	p.G186V	ASIC4_ENST00000347842.3_Missense_Mutation_p.G186V|AC053503.11_ENST00000429882.1_RNA			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	186						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.G186V(1)									CGGGCCTGTGGCCCAGGCCCC	0.716000													29	90					7.11191e-15	1.07901e-14	0.002836	1	0
RAG1	5896	broad.mit.edu	37	11	36596940	36596940	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:36596940G>T	ENST00000299440.5	+	2	2198	c.2086G>T	c.(2086-2088)Ggc>Tgc	p.G696C		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	696					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G696C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGAGCTGGGAGGCATTCTCCG	0.532000									Familial Hemophagocytic Lymphohistiocytosis				28	62					1.68575e-08	2.22099e-08	0.007291	1	0
KIAA1324	57535	broad.mit.edu	37	1	109740147	109740147	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:109740147G>T	ENST00000369939.3	+	16	2356	c.2173G>T	c.(2173-2175)Gag>Tag	p.E725*	KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.E638*|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	725					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.E725*(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CCGGATTCCTGAGGGTGAGTC	0.552000													12	107					6.42651e-13	9.51241e-13	0.000978	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129470	248129470	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248129470C>T	ENST00000366480.3	+	1	936	c.837C>T	c.(835-837)tcC>tcT	p.S279S	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S279S(1)		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)			GGCCACACTCCTTGCGTTCCC	0.478000													43	69					0	0	0.002852	0	0
OR2T3	343173	broad.mit.edu	37	1	248637034	248637034	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248637034A>G	ENST00000359594.2	+	1	408	c.383A>G	c.(382-384)tAt>tGt	p.Y128C		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y128C(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	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)			TATGACCGATATGCTGCTGTT	0.552000													11	81					0	0	0.010504	0	0
CR1L	1379	broad.mit.edu	37	1	207890857	207890857	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:207890857G>C	ENST00000508064.2	+	11	1523	c.1463G>C	c.(1462-1464)gGa>gCa	p.G488A		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	488	Sushi 8.					cytoplasm|extracellular region|membrane		p.G488E(1)|p.G488A(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGACACACAGGAACTCCCCTT	0.428000													5	179					0	0	0.000602	0	0
CACNA1E	777	broad.mit.edu	37	1	181741231	181741231	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:181741231T>C	ENST00000526775.1	+	36	5111	c.4946T>C	c.(4945-4947)aTt>aCt	p.I1649T	CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1668T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1649T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1668T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1275T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1619T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1600T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1668					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.I1668T(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCAGGAGATTATGCTGTCA	0.567000													48	63					0	0	0.003610	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870424	57870424	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:57870424T>A	ENST00000393797.2	-	10	1379	c.1187A>T	c.(1186-1188)aAg>aTg	p.K396M	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.K325M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.K325M|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.K404M|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.K141M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.K325M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	325	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.K325M(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CAGACCCGACTTTTCCACCTC	0.582000													5	187					0	0	0.000602	0	0
NLRP14	338323	broad.mit.edu	37	11	7064041	7064041	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:7064041G>A	ENST00000299481.4	+	4	1130	c.784G>A	c.(784-786)Gat>Aat	p.D262N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	262	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.D262N(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TGACAGTTTCGATGAACTGAA	0.453000													42	138					0	0	0.008740	0	0
HIVEP2	3097	broad.mit.edu	37	6	143091689	143091689	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:143091689C>A	ENST00000367603.2	-	5	4929	c.4187G>T	c.(4186-4188)gGg>gTg	p.G1396V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1396V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1396V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1396L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CGCATGCTGCCCCAGCACCTG	0.522000													11	80					3.07112e-06	3.73223e-06	0.000978	1	0
ITGA4	3676	broad.mit.edu	37	2	182395301	182395301	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:182395301A>T	ENST00000397033.2	+	24	3019	c.2589A>T	c.(2587-2589)ttA>ttT	p.L863F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	863					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.L863F(1)		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)	TGTGTGCATTAGAGCAGCAAA	0.383000													5	154					0	0	0.000602	0	0
ZNF501	115560	broad.mit.edu	37	3	44776034	44776034	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:44776034C>T	ENST00000396048.2	+	3	558	c.121C>T	c.(121-123)Cag>Tag	p.Q41*		NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q41*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TACCCAGCACCAGAGGATTCA	0.423000													11	61					0	0	0.000978	0	0
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	943					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			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)		AGGAAGTGTCGGTGACAGGAA	0.577000													3	4					0	0	0.009096	0	0
PCDH10	57575	broad.mit.edu	37	4	134072018	134072018	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134072018G>T	ENST00000264360.4	+	1	1549	c.723G>T	c.(721-723)ctG>ctT	p.L241L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	241	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L241L(1)		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)		TCCGAGTGCTGGACTCCAATG	0.647000													10	77					5.50884e-06	6.63658e-06	0.001368	1	0
IQGAP3	128239	broad.mit.edu	37	1	156501027	156501027	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:156501027C>A	ENST00000361170.2	-	33	4126	c.4116G>T	c.(4114-4116)ctG>ctT	p.L1372L		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1372					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.L1372L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TATCGGCCAACAGCTGCTTGG	0.597000													23	121					9.57634e-11	1.35746e-10	0.003330	1	0
KCNA4	3739	broad.mit.edu	37	11	30034035	30034035	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:30034035T>C	ENST00000328224.6	-	2	1424	c.191A>G	c.(190-192)cAc>cGc	p.H64R		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	64	Poly-His.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.H64R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TGACTGGTGGTGGTGGTGGGA	0.652000													6	25					0	0	0.001855	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215062	140215062	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140215062C>A	ENST00000525929.1	+	1	1094	c.1094C>A	c.(1093-1095)cCa>cAa	p.P365Q	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365Q	NM_018910.2	NP_061733.1												p.P365Q(4)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCCAACCAGGTACCGTC	0.507000													27	144					2.12542e-12	3.12221e-12	0.006320	1	0
CTNNA2	1496	broad.mit.edu	37	2	80136743	80136743	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:80136743G>C	ENST00000466387.1	+	11	1600	c.876G>C	c.(874-876)atG>atC	p.M292I	CTNNA2_ENST00000496558.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M326I|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M292I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M292I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	292					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.M292I(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGACCCCATGACGTTCAGCG	0.562000													21	167					0	0	0.006320	0	0
OR5L1	219437	broad.mit.edu	37	11	55579237	55579237	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55579237G>A	ENST00000333973.2	+	1	384	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M98_V99>IM(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGGGTGCATGGTGCAATTCTA	0.453000													46	287					0	0	0.002852	0	0
MORC1	27136	broad.mit.edu	37	3	108778676	108778676	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:108778676T>C	ENST00000232603.5	-	12	1090	c.1008A>G	c.(1006-1008)caA>caG	p.Q336Q	MORC1_ENST00000483760.1_Silent_p.Q336Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	336					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.Q336Q(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TAAGATTCTTTTGCTTTGCTT	0.368000													20	45					0	0	0.001882	0	0
AMHR2	269	broad.mit.edu	37	12	53819601	53819601	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:53819601A>G	ENST00000257863.4	+	6	830	c.750A>G	c.(748-750)ccA>ccG	p.P250P	AMHR2_ENST00000379791.3_Silent_p.P250P|AMHR2_ENST00000550311.1_Silent_p.P250P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	250	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.P250P(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACGAACTTCCAGGCCTACAGC	0.597000													3	79					0	0	0.004672	0	0
RDX	5962	broad.mit.edu	37	11	110106875	110106875	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:110106875T>A	ENST00000343115.4	-	12	1612	c.1293A>T	c.(1291-1293)ctA>ctT	p.L431L	RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.L431L|RDX_ENST00000528498.1_Silent_p.L431L|RDX_ENST00000528900.1_Silent_p.L84L|RDX_ENST00000544551.1_Silent_p.L295L	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	431	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	p.L431L(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TGGCTTCCTCTAGAAGTGCAA	0.313000													13	169					0	0	0.004990	0	0
SALL1	6299	broad.mit.edu	37	16	51175401	51175401	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:51175401C>G	ENST00000440970.1	-	2	872	c.441G>C	c.(439-441)ctG>ctC	p.L147L	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L244L	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	244					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L244L(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGATCAATTGCAGCTGGTGGA	0.542000													28	71					0	0	0.002836	0	0
OR4N5	390437	broad.mit.edu	37	14	20612550	20612550	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20612550C>A	ENST00000333629.1	+	1	656	c.656C>A	c.(655-657)gCa>gAa	p.A219E		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A219E(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTCCTATGCAGTCATCCTC	0.502000													7	156					2.0095e-06	2.46056e-06	0.001984	1	0
LRRTM4	80059	broad.mit.edu	37	2	77746271	77746271	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:77746271G>T	ENST00000409088.3	-	3	1138	c.724C>A	c.(724-726)Cgc>Agc	p.R242S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	242						integral to membrane		p.R242S(2)		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)		CTAATGGAGCGAATCCTGTTC	0.448000													5	30					1.024e-07	1.30829e-07	0.000602	1	0
PSG8	440533	broad.mit.edu	37	19	43258604	43258604	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:43258604G>C	ENST00000404209.4	-	5	1220	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	PSG8_ENST00000406636.3_Nonsense_Mutation_p.S253*|PSG8_ENST00000401467.2_Nonsense_Mutation_p.S282*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Nonsense_Mutation_p.S375*	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	375	Ig-like C2-type 3.					extracellular region		p.S375*(1)		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)				CTTTTGTCCTGATAGCTGAAA	0.468000													8	464					0	0	0.003080	0	0
MUC2	4583	broad.mit.edu	37	11	1101128	1101128	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:1101128G>T	ENST00000441003.2	+	41	7554	c.7527G>T	c.(7525-7527)acG>acT	p.T2509T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4871						inner mucus layer|outer mucus layer	protein binding	p.T2509T(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCTCGCCACGGAGGTCAACC	0.622000													12	62					2.68362e-12	3.91849e-12	0.001368	1	0
TMTC2	160335	broad.mit.edu	37	12	83359552	83359552	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:83359552C>T	ENST00000548305.1	+	6	2484	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	TMTC2_ENST00000549919.1_Intron|TMTC2_ENST00000321196.3_Intron			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	0						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TGTCCTTTTCCCTCCCCCTTG	0.453000													23	53					0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179616645	179616645	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179616645A>C	ENST00000360870.5	-	46	10704	c.10482T>G	c.(10480-10482)tcT>tcG	p.S3494S	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3496							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)			AGGAGCTTGTAGATGATATTC	0.368000													15	328					0	0	0.003163	0	0
GPR61	83873	broad.mit.edu	37	1	110085968	110085968	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110085968C>A	ENST00000527748.1	+	2	1007	c.324C>A	c.(322-324)gcC>gcA	p.A108A	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	108						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A108A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACCACGCCCTCTTTGGGG	0.597000													14	80					7.93312e-07	9.86307e-07	0.002450	1	0
SMYD5	10322	broad.mit.edu	37	2	73449044	73449044	+	Nonsense_Mutation	SNP	G	G	T	rs140745382	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:73449044G>T	ENST00000389501.4	+	6	673	c.628G>T	c.(628-630)Gga>Tga	p.G210*	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	210							metal ion binding	p.G210*(1)|p.G94*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TAAACTTCTGGGAGACAAATT	0.473000													12	108					2.48551e-13	3.71296e-13	0.004990	1	0
OBFC1	79991	broad.mit.edu	37	10	105659884	105659884	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:105659884C>T	ENST00000224950.3	-	5	560	c.393G>A	c.(391-393)acG>acA	p.T131T	OBFC1_ENST00000369764.1_Silent_p.T131T|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	131					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	p.T131T(1)		large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TGACTCGGATCGTGTCCCCGA	0.458000													6	153					0	0	0.001984	0	0
PRKAG3	53632	broad.mit.edu	37	2	219692035	219692035	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:219692035G>A	ENST00000439262.2	-	9	957	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	PRKAG3_ENST00000392098.3_Silent_p.T297T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.P129S|PRKAG3_ENST00000529249.1_Missense_Mutation_p.P313S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	313	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.P313S(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGACACCGGGTCAAGAACA	0.582000													6	54					0	0	0.001984	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1																						AAATTTGAAGGTGCTGTGATT	0.448000													5	139					0	0	0.000602	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													7	95					0	0	0.003080	0	0
DEGS1	8560	broad.mit.edu	37	1	224378005	224378005	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:224378005G>C	ENST00000323699.4	+	2	975	c.809G>C	c.(808-810)gGa>gCa	p.G270A	DEGS1_ENST00000391877.3_Missense_Mutation_p.G270A	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	270					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity	p.G270A(1)		breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AACATTCCTGGAAAAAGTCTT	0.358000													4	129					0	0	0.009096	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431427	56431427	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:56431427A>T	ENST00000302969.2	+	1	290	c.266A>T	c.(265-267)cAc>cTc	p.H89L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H89L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTAACAAATCACAAAGTTATC	0.498000													10	388					0	0	0.006214	0	0
ANO3	63982	broad.mit.edu	37	11	26538397	26538397	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:26538397C>T	ENST00000256737.3	+	6	1467	c.615C>T	c.(613-615)atC>atT	p.I205I	ANO3_ENST00000531568.1_Silent_p.I59I|ANO3_ENST00000537978.1_Silent_p.I189I|ANO3_ENST00000525139.1_Silent_p.I189I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	205						chloride channel complex	chloride channel activity	p.I205I(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GCCCCGATATCATGTTTATTA	0.383000													4	28					0	0	0.009096	0	0
DNAJC16	23341	broad.mit.edu	37	1	15888820	15888820	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:15888820G>A	ENST00000375847.3	+	9	1502	c.1338_splice	c.e9+1	p.A446_splice	DNAJC16_ENST00000375838.1_Splice_Site_p.A446_splice|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Splice_Site_p.A446_splice	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	446					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.A446A(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGAAATCAGCGGTAAGCCACA	0.478000													32	82					0	0	0.002096	0	0
CPS1	1373	broad.mit.edu	37	2	211421526	211421526	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:211421526G>T	ENST00000233072.5	+	1	265	c.69G>T	c.(67-69)gtG>gtT	p.V23V	CPS1_ENST00000430249.2_Silent_p.V29V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	23					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V29V(1)|p.V23V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTACCAATGTGACTGCACACC	0.373000													25	116					3.28513e-13	4.89994e-13	0.003954	1	0
ITGA4	3676	broad.mit.edu	37	2	182339715	182339715	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:182339715G>T	ENST00000397033.2	+	3	778	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.K116N	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	116					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.K116N(1)		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)	CTTGTGGAAAGACTTGTTTGG	0.418000													12	43					0.000151284	0.000174462	0.001855	1	0
CNNM4	26504	broad.mit.edu	37	2	97427550	97427550	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:97427550G>T	ENST00000377075.2	+	1	912	c.814G>T	c.(814-816)Gtg>Ttg	p.V272L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	272	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.V272L(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CCTCATGGCGGTGGCCTCCTC	0.587000													9	124					0.000274275	0.000310398	0.004482	1	0
SMTN	6525	broad.mit.edu	37	22	31484883	31484883	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:31484883C>T	ENST00000333137.7	+	6	617	c.399C>T	c.(397-399)taC>taT	p.Y133Y	SMTN_ENST00000358743.1_Silent_p.Y133Y|SMTN_ENST00000347557.2_Silent_p.Y133Y	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	133					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.Y133Y(2)|p.Y125Y(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GGAGGTTGTACAGCGGGCGTC	0.632000											OREG0026472	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	35					0	0	0.000978	0	0
PXDNL	137902	broad.mit.edu	37	8	52321066	52321066	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:52321066C>A	ENST00000356297.4	-	17	3218	c.3118G>T	c.(3118-3120)Gtg>Ttg	p.V1040L	PXDNL_ENST00000543296.1_Missense_Mutation_p.V1040L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1040					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.V239L(1)|p.V1040L(1)		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)				CCTGCATTCACGTTGGGGTTG	0.522000													4	42					0.000602214	0.000676794	0.000602	1	0
NPS	594857	broad.mit.edu	37	10	129350781	129350781	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:129350781G>C	ENST00000398023.1	+	3	168	c.148G>C	c.(148-150)Gac>Cac	p.D50H		NM_001030013.1	NP_001025184.1	P0C0P6	NPS_HUMAN	neuropeptide S	50					neuropeptide signaling pathway	extracellular region		p.D50H(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						AACCAGATTGGACAGGAGCAA	0.428000													18	645					0	0	0.007413	0	0
ZDHHC11	79844	broad.mit.edu	37	5	850557	850557	+	Missense_Mutation	SNP	G	G	A	rs145802626		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:850557G>A	ENST00000283441.8	-	1	544	c.161C>T	c.(160-162)tCg>tTg	p.S54L	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.S54L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	54						integral to membrane	acyltransferase activity|zinc ion binding	p.S54L(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GAAGGTGGCCGAGGAAAGGCC	0.582000													9	48					0	0	0.004482	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370435	38370435	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:38370435C>T	ENST00000322350.5	+	6	929	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	EGFLAM_ENST00000354891.3_Missense_Mutation_p.R195W	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	195	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R195W(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AATCCATGAGCGGATCCAGAT	0.498000													10	71					0	0	0.008291	0	0
SHISA2	387914	broad.mit.edu	37	13	26620787	26620787	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:26620787G>A	ENST00000319420.3	-	2	807	c.752C>T	c.(751-753)aCg>aTg	p.T251M		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	251					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.T251M(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GTGCTGCACCGTGTACCCCAC	0.577000													38	40					0	0	0.007835	0	0
GPR152	390212	broad.mit.edu	37	11	67219375	67219375	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67219375C>A	ENST00000312457.2	-	1	825	c.821G>T	c.(820-822)tGg>tTg	p.W274L		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	274						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W274L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CAGGGCCTCCCAGAGCAGGTA	0.627000													31	90					6.04164e-23	1.00798e-22	0.002096	1	0
IGLV7-46	28775	broad.mit.edu	37	22	22724195	22724195	+	RNA	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:22724195G>A	ENST00000390295.2	+	0	125																											CTCACTGACTGTGTCCCCAGG	0.517000													7	31					0	0	0.004482	0	0
OR2M5	127059	broad.mit.edu	37	1	248308564	248308564	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248308564T>A	ENST00000366476.1	+	1	115	c.115T>A	c.(115-117)Ttc>Atc	p.F39I		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F39I(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCAGTGGCCTTCATGGGAAA	0.517000													100	393					0	0	0.003610	0	0
CA1	759	broad.mit.edu	37	8	86240888	86240888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:86240888G>T	ENST00000523953.1	-	9	1733	c.687C>A	c.(685-687)agC>agA	p.S229R	CA1_ENST00000523022.1_Missense_Mutation_p.S229R|CA1_ENST00000431316.1_Missense_Mutation_p.S229R|CA1_ENST00000432364.2_Missense_Mutation_p.S229R|CA1_ENST00000542576.1_Missense_Mutation_p.S229R|CA1_ENST00000522389.1_Missense_Mutation_p.S95R|CA1_ENST00000256119.5_Missense_Mutation_p.S229R			P00915	CAH1_HUMAN	carbonic anhydrase I	229					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	p.S229R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGATAGAAGGCTGCGGAATT	0.388000													18	113					5.3912e-06	6.52726e-06	0.006122	1	0
ZNF415	55786	broad.mit.edu	37	19	53612346	53612346	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53612346G>T	ENST00000455735.2	-	7	1416	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.H318N|ZNF415_ENST00000243643.4_Missense_Mutation_p.H318N|ZNF415_ENST00000601493.1_Missense_Mutation_p.H88N|ZNF415_ENST00000448501.1_Missense_Mutation_p.H366N|ZNF415_ENST00000440291.1_Missense_Mutation_p.H305N|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H330N			Q09FC8	ZN415_HUMAN	zinc finger protein 415	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.H318N(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		GTTTTCTGATGTAGTGCAAGG	0.418000													9	93					0.00448238	0.00482527	0.004482	1	0
ZNF585A	199704	broad.mit.edu	37	19	37643891	37643891	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:37643891C>A	ENST00000356958.4	-	5	1168	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	ZNF585A_ENST00000355533.2_Missense_Mutation_p.G249C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G249C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G249C			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G249C(1)		breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGATTTGCCACAGTTACTG	0.428000													48	371					2.27781e-18	3.5616e-18	0.003610	1	0
TRPV2	51393	broad.mit.edu	37	17	16326837	16326837	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:16326837A>G	ENST00000338560.7	+	5	1079	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	TRPV2_ENST00000577397.1_Intron	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	227	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.Y227C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GTGGTAAGCTACCTCCTGGAG	0.612000													3	37					0	0	0.004672	0	0
PABPC5	140886	broad.mit.edu	37	X	90691098	90691098	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:90691098G>A	ENST00000312600.3	+	2	736	c.522G>A	c.(520-522)caG>caA	p.Q174Q	PABPC5_ENST00000373105.1_Silent_p.Q10Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	174	RRM 2.					cytoplasm	nucleotide binding|RNA binding	p.Q174Q(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						ACAACCGCCAGGTGTATGTTG	0.502000													19	45					0	0	0.006122	0	0
RNF170	81790	broad.mit.edu	37	8	42725241	42725241	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42725241G>A	ENST00000319073.4	-	4	474	c.14C>T	c.(13-15)cCa>cTa	p.P5L	RNF170_ENST00000319104.3_Silent_p.A76A|RNF170_ENST00000526349.1_5'UTR|RNF170_ENST00000527424.1_Silent_p.A76A|RNF170_ENST00000534961.1_Silent_p.A76A			Q96K19	RN170_HUMAN	ring finger protein 170	0						integral to membrane	zinc ion binding	p.A76A(1)		lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCTGTCGAGTGGCAGCAGGTG	0.473000													6	43					0	0	0.001984	0	0
PSG9	5678	broad.mit.edu	37	19	43763022	43763022	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:43763022G>T	ENST00000418820.2	-	3	794	c.696C>A	c.(694-696)atC>atA	p.I232I	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Silent_p.I325I|PSG9_ENST00000443718.3_Silent_p.I232I|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	232	Ig-like C2-type 1.				female pregnancy	extracellular region		p.I325I(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGACATTTAGGATGACTGGGT	0.507000													21	125					8.10497e-08	1.03962e-07	0.010504	1	0
MYH7	4625	broad.mit.edu	37	14	23900116	23900116	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23900116G>T	ENST00000355349.3	-	10	1051	c.889C>A	c.(889-891)Ctg>Atg	p.L297M		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	297	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L297M(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCACCCAGCAGCTCAGGCTTT	0.488000													31	199					3.57733e-08	4.65005e-08	0.009535	1	0
TRAC	28755	broad.mit.edu	37	14	23019583	23019583	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23019583G>T	ENST00000478163.3	+	0	401																											ATCTGCTCATGACGCTGCGGC	0.542000													4	66					0.00024832	0.000282671	0.009096	1	0
NRG3	10718	broad.mit.edu	37	10	84745279	84745279	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:84745279T>C	ENST00000372142.2	+	11	1692	c.1418T>C	c.(1417-1419)cTg>cCg	p.L473P	NRG3_ENST00000404547.1_Missense_Mutation_p.L694P|NRG3_ENST00000404576.2_Missense_Mutation_p.L474P|NRG3_ENST00000372141.2_Missense_Mutation_p.L670P|NRG3_ENST00000556918.1_Missense_Mutation_p.L500P|NRG3_ENST00000537893.1_Missense_Mutation_p.L320P|NRG3_ENST00000545131.1_Missense_Mutation_p.L320P	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	694					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.L473P(1)|p.L670P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		TTTCTCCCCCTGAGTCCCACA	0.478000													17	106					0	0	0.007413	0	0
CNBD2	140894	broad.mit.edu	37	20	34596240	34596240	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34596240T>A	ENST00000373973.3	+	9	1165	c.992T>A	c.(991-993)tTt>tAt	p.F331Y	CNBD2_ENST00000538900.1_Missense_Mutation_p.F331Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.F331Y					cyclic nucleotide binding domain containing 2									p.F331Y(1)									ATGGAAAGATTTAAGGAATTC	0.398000													7	264					0	0	0.001984	0	0
SLC22A13	9390	broad.mit.edu	37	3	38307398	38307398	+	Missense_Mutation	SNP	G	G	C	rs72542450	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:38307398G>C	ENST00000311856.4	+	1	96	c.47G>C	c.(46-48)cGc>cCc	p.R16P	SLC22A13_ENST00000450935.2_5'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	16						integral to plasma membrane	organic cation transmembrane transporter activity	p.R16P(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GACTTTGGTCGCTTCCAGATA	0.507000													5	79					0	0	0.000602	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49327723	49327723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:49327723C>A	ENST00000559471.1	-	3	599	c.336G>T	c.(334-336)atG>atT	p.M112I	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M112I	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	112										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ATGGTGCTGGCATCAGCTGAT	0.453000													7	187					0.00307968	0.00332263	0.003080	1	0
NPNT	255743	broad.mit.edu	37	4	106861316	106861316	+	Missense_Mutation	SNP	G	G	C	rs144069851	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:106861316G>C	ENST00000379987.2	+	6	806	c.590G>C	c.(589-591)tGt>tCt	p.C197S	NPNT_ENST00000305572.8_Missense_Mutation_p.C197S|NPNT_ENST00000506666.1_Missense_Mutation_p.C227S|NPNT_ENST00000453617.2_Missense_Mutation_p.C214S|NPNT_ENST00000427316.2_Missense_Mutation_p.C227S|NPNT_ENST00000514622.1_Missense_Mutation_p.C197S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	197	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding	p.C197S(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		ATCTGCAAGTGTCATAAAGGC	0.408000													25	130					0	0	0.004656	0	0
KRT75	9119	broad.mit.edu	37	12	52818459	52818459	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:52818459T>G	ENST00000252245.5	-	9	1718	c.1498A>C	c.(1498-1500)Agc>Cgc	p.S500R	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	500	Tail.					keratin filament	structural molecule activity	p.S500R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GAGTAGCCGCTGCCCCCACCG	0.632000													4	65					0	0	0.001168	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317940	154317940	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:154317940T>A	ENST00000368489.3	+	23	2712	c.2712T>A	c.(2710-2712)ttT>ttA	p.F904L		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	890					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.F904L(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGCAAGTTTCTTTGCTATT	0.502000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	854					0	0	0.002836	0	0
NR1H4	9971	broad.mit.edu	37	12	100928738	100928738	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:100928738C>A	ENST00000548884.1	+	6	1198	c.657C>A	c.(655-657)acC>acA	p.T219T	NR1H4_ENST00000392986.3_Silent_p.T223T|NR1H4_ENST00000551379.1_Silent_p.T233T|NR1H4_ENST00000188403.7_Silent_p.T229T|NR1H4_ENST00000549996.1_Silent_p.T172T	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	233					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.T219T(3)|p.T233T(2)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CAGATCAGACCGTGAATGAAG	0.428000													30	56					3.11337e-16	4.79855e-16	0.002836	1	0
SGCD	6444	broad.mit.edu	37	5	156186354	156186354	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:156186354G>T	ENST00000435422.3	+	8	1310	c.823G>T	c.(823-825)Gca>Tca	p.A275S	SGCD_ENST00000337851.4_Missense_Mutation_p.A276S	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	275					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.A276S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGTCTCAGGCAGGAGCTGG	0.498000													13	100					6.31663e-08	8.13454e-08	0.003163	1	0
RYR2	6262	broad.mit.edu	37	1	237965182	237965182	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237965182A>T	ENST00000366574.2	+	98	14434	c.14117A>T	c.(14116-14118)cAg>cTg	p.Q4706L	RYR2_ENST00000542537.1_Missense_Mutation_p.Q4690L|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4712L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4706					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Q4704L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGAAGTATCAGATGTGGAAA	0.398000													3	40					0	0	0.004672	0	0
ABCB1	5243	broad.mit.edu	37	7	87179872	87179872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87179872G>T	ENST00000265724.3	-	12	1553	c.1136C>A	c.(1135-1137)tCg>tAg	p.S379*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.S315*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	379					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	p.S379*(1)		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)	CCCACTCTTCGAATAGCTGTC	0.333000													18	90					1.99824e-07	2.51659e-07	0.004990	1	0
MYLK	4638	broad.mit.edu	37	3	123456371	123456371	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:123456371G>A	ENST00000360772.3	-	9	986	c.608C>T	c.(607-609)cCg>cTg	p.P203L	MYLK_ENST00000346322.5_Missense_Mutation_p.P203L|MYLK_ENST00000360304.3_Missense_Mutation_p.P203L|MYLK_ENST00000475616.1_Missense_Mutation_p.P203L|MYLK_ENST00000359169.1_Missense_Mutation_p.P203L			Q15746	MYLK_HUMAN	myosin light chain kinase	203	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P203L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACGGGCACTCGGCTGCAGTGG	0.542000													7	211					0	0	0.001984	0	0
ZNF701	55762	broad.mit.edu	37	19	53086276	53086276	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53086276G>T	ENST00000540331.1	+	5	1387	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	ZNF701_ENST00000301093.2_Nonsense_Mutation_p.G388*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Nonsense_Mutation_p.G322*	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G322*(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGTTCATACTGGAGAGAAACC	0.378000													4	121					0.00909568	0.00965236	0.009096	1	0
LRP5	4041	broad.mit.edu	37	11	68171004	68171004	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:68171004G>A	ENST00000294304.7	+	8	1744	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	546	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	p.P546P(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCACATTTTTG	0.607000													12	90					0	0	0.001855	0	0
ARAP2	116984	broad.mit.edu	37	4	36212324	36212324	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:36212324A>C	ENST00000303965.4	-	6	1664	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	392					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.V392G(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AATATCTTCCACCTTGTCCTC	0.343000													6	218					0	0	0.001168	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774686	100774686	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:100774686G>A	ENST00000323346.5	+	2	622	c.309G>A	c.(307-309)atG>atA	p.M103I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.M103I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	103					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.M103I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTGTGGAAATGGTCAACAATA	0.483000													22	149					0	0	0.003330	0	0
P4HB	5034	broad.mit.edu	37	17	79817264	79817264	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:79817264C>A	ENST00000331483.4	-	2	368		c.e2-1		P4HB_ENST00000439918.2_Splice_Site|P4HB_ENST00000576390.1_Splice_Site	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide						cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.?(1)		NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CAAGGGGCATCTGGAAGCGGA	0.542000													21	105					1.2644e-06	1.57e-06	0.010504	1	0
B4GALNT4	338707	broad.mit.edu	37	11	373108	373108	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:373108C>A	ENST00000329962.6	+	5	527	c.527C>A	c.(526-528)gCg>gAg	p.A176E		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627000													30	74					1.39806e-14	2.1145e-14	0.008361	1	0
TRHDE	29953	broad.mit.edu	37	12	72667204	72667204	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:72667204G>T	ENST00000261180.4	+	1	742	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	216					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.V216F(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCAAACCCAGGTCTTAGTGGT	0.567000													11	120					2.80697e-09	3.78552e-09	0.000978	1	0
ABCC5	10057	broad.mit.edu	37	3	183682981	183682981	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:183682981G>A	ENST00000334444.6	-	14	2263	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	ABCC5_ENST00000265586.6_Silent_p.L675L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	675	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.L675L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ACCTCCGTCAGGTCGCTGCTG	0.597000													15	53					0	0	0.006122	0	0
GTSE1	51512	broad.mit.edu	37	22	46708079	46708079	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:46708079C>T	ENST00000454366.1	+	5	1016	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	249					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.I268I(1)|p.I249I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GGACAAAAATCCCAGCTGAGA	0.512000													12	37					0	0	0.001368	0	0
PTCHD1	139411	broad.mit.edu	37	X	23412154	23412154	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:23412154C>A	ENST00000379361.4	+	3	3379	c.2519C>A	c.(2518-2520)gCc>gAc	p.A840D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	840					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.A735D(1)|p.A840D(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CACTGCTTTGCCATTTTACCT	0.418000													8	185					0.000157383	0.000179787	0.003080	1	0
ETV1	2115	broad.mit.edu	37	7	13971169	13971169	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:13971169G>A	ENST00000343495.5	-	8	1444	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	ETV1_ENST00000403685.1_Silent_p.L236L|ETV1_ENST00000242066.5_Silent_p.L236L|ETV1_ENST00000430479.1_Silent_p.L254L|ETV1_ENST00000403527.1_Silent_p.L214L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Silent_p.L268L|ETV1_ENST00000405218.2_Silent_p.L254L|ETV1_ENST00000399357.3_Silent_p.L151L|ETV1_ENST00000420159.2_Silent_p.L196L|ETV1_ENST00000405192.2_Silent_p.L254L			P50549	ETV1_HUMAN	ets variant 1	254					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L254L(1)|p.L214L(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTAATCATCAGAGGAGGGGGA	0.512000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	67					0	0	0.003080	0	0
SH3BP4	23677	broad.mit.edu	37	2	235951690	235951690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:235951690G>T	ENST00000409212.1	+	4	2784	c.2277G>T	c.(2275-2277)agG>agT	p.R759S	SH3BP4_ENST00000392011.2_Missense_Mutation_p.R759S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R759S			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	759					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.R759S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTCCGTGAGGACCCTGCTCA	0.632000													12	56					2.62699e-14	3.94861e-14	0.003163	1	0
ASPM	259266	broad.mit.edu	37	1	197072642	197072642	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:197072642G>A	ENST00000367409.4	-	18	5995	c.5739C>T	c.(5737-5739)gcC>gcT	p.A1913A	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1913	IQ 11.				mitosis	cytoplasm|nucleus	calmodulin binding	p.A1913A(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTGTTTCTGGGCCTTGGCCA	0.438000													33	170					0	0	0.002096	0	0
PCDH15	65217	broad.mit.edu	37	10	56077052	56077052	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:56077052G>A	ENST00000373965.2	-	8	1249	c.855C>T	c.(853-855)gcC>gcT	p.A285A	PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000395438.1_Silent_p.A285A|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000320301.6_Silent_p.A285A	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	285	Cadherin 3.				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	p.A285A(2)|p.A290A(2)		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)				ACTCAGGTATGGCAGCTTGAT	0.413000										HNSCC(58;0.16)			18	76					0	0	0.008871	0	0
USP29	57663	broad.mit.edu	37	19	57640419	57640419	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57640419C>A	ENST00000254181.4	+	4	830	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	USP29_ENST00000598197.1_Missense_Mutation_p.L126M	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	126					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L126M(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGGAATATGCTGAAGGAAAT	0.348000													14	107					2.23348e-06	2.72794e-06	0.004007	1	0
DYSF	8291	broad.mit.edu	37	2	71766288	71766288	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:71766288G>T	ENST00000258104.3	+	16	1676	c.1397_splice	c.e16-1	p.D467_splice	DYSF_ENST00000429174.2_Splice_Site_p.D467_splice|DYSF_ENST00000413539.2_Splice_Site_p.D498_splice|DYSF_ENST00000410020.3_Splice_Site_p.D499_splice|DYSF_ENST00000410041.1_Splice_Site_p.D499_splice|DYSF_ENST00000409651.1_Splice_Site_p.D499_splice|DYSF_ENST00000409366.1_Splice_Site_p.D468_splice|DYSF_ENST00000394120.2_Splice_Site_p.D468_splice|DYSF_ENST00000409762.1_Splice_Site_p.D498_splice|DYSF_ENST00000409744.1_Splice_Site_p.D468_splice|DYSF_ENST00000409582.3_Splice_Site_p.D498_splice	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	467	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.D499Y(1)|p.D467Y(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTGCTCTAGGGACCGCCTGAC	0.557000													9	91					6.40141e-05	7.45296e-05	0.000978	1	0
KIF1B	23095	broad.mit.edu	37	1	10342421	10342421	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:10342421G>C	ENST00000377086.1	+	15	1466	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P	KIF1B_ENST00000377081.1_Missense_Mutation_p.A422P|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	422					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATACTTGCTAGCCTCTGAGAA	0.473000													8	120					0	0	0.003080	0	0
C6orf222	389384	broad.mit.edu	37	6	36285159	36285159	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:36285159T>A	ENST00000437635.2	-	12	2110	c.1933A>T	c.(1933-1935)Agt>Tgt	p.S645C		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	645								p.S645C(1)		breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACCTTAGGACTTGTGATGTTC	0.423000													7	156					0	0	0.003080	0	0
POU1F1	5449	broad.mit.edu	37	3	87325585	87325585	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:87325585C>A	ENST00000350375.2	-	1	152	c.28G>T	c.(28-30)Gat>Tat	p.D10Y	POU1F1_ENST00000344265.3_Missense_Mutation_p.D10Y|POU1F1_ENST00000560656.1_Missense_Mutation_p.D10Y	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	10					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D10Y(2)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATAAAGGTATCAGCCGAAGTA	0.448000													10	56					1.76689e-08	2.32473e-08	0.006214	1	0
GRIA4	2893	broad.mit.edu	37	11	105781249	105781249	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:105781249C>A	ENST00000393127.2	+	10	1693	c.1247C>A	c.(1246-1248)aCa>aAa	p.T416K	GRIA4_ENST00000525187.1_Missense_Mutation_p.T416K|GRIA4_ENST00000282499.5_Missense_Mutation_p.T416K|GRIA4_ENST00000428631.2_Missense_Mutation_p.T416K|GRIA4_ENST00000530497.1_Missense_Mutation_p.T416K|GRIA4_ENST00000393125.2_Missense_Mutation_p.T416K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	416					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	p.T416K(3)		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)	GAGAACAGAACAGTGGTTGTA	0.423000													8	53					0.000274275	0.000310398	0.004482	1	0
NAV3	89795	broad.mit.edu	37	12	78444710	78444710	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:78444710G>C	ENST00000397909.2	+	11	2472	c.2299G>C	c.(2299-2301)Ggt>Cgt	p.G767R	NAV3_ENST00000266692.7_Missense_Mutation_p.G767R|NAV3_ENST00000228327.6_Missense_Mutation_p.G767R|NAV3_ENST00000536525.2_Missense_Mutation_p.G767R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	767						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.G767R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCCTCGCAGTGGTACCAGTCG	0.592000										HNSCC(70;0.22)			12	65					0	0	0.001368	0	0
PRKCA	5578	broad.mit.edu	37	17	64684432	64684432	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:64684432T>C	ENST00000413366.3	+	7	725	c.699T>C	c.(697-699)ccT>ccC	p.P233P		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	233	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.P233P(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AATTGAAACCTTCAGACAAAG	0.443000													20	137					0	0	0.010504	0	0
NALCN	259232	broad.mit.edu	37	13	101710333	101710333	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:101710333C>A	ENST00000251127.6	-	43	5062	c.4981G>T	c.(4981-4983)Ggg>Tgg	p.G1661W	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1661						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1661W(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGTTTCCCTGCGTCGGCT	0.567000													19	61					8.00594e-06	9.63292e-06	0.007413	1	0
PLAT	5327	broad.mit.edu	37	8	42046539	42046539	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42046539A>G	ENST00000220809.4	-	4	422	c.166T>C	c.(166-168)Tgg>Cgg	p.W56R	PLAT_ENST00000524009.1_Missense_Mutation_p.W56R|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.W56R|PLAT_ENST00000519510.1_Missense_Mutation_p.W56R|PLAT_ENST00000429710.2_Missense_Mutation_p.W56R|PLAT_ENST00000429089.2_Missense_Mutation_p.W56R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	56	Fibronectin type-I.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.W56R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGGCGCAGCCATGACTGATGT	0.483000													7	309					0	0	0.006214	0	0
CYTH2	9266	broad.mit.edu	37	19	48982391	48982391	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:48982391G>T	ENST00000427476.1	+	12	1427	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	CYTH2_ENST00000452733.2_Missense_Mutation_p.S375I	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	376	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.S376I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCGGCTGTGAGTGTGGACCCC	0.607000													6	175					0.00198382	0.00215952	0.001984	1	0
DIDO1	11083	broad.mit.edu	37	20	61542867	61542867	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61542867G>A	ENST00000266070.4	-	3	423	c.98C>T	c.(97-99)aCt>aTt	p.T33I	DIDO1_ENST00000395343.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370366.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T33I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T33I|DIDO1_ENST00000354665.4_Missense_Mutation_p.T33I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T33I|DIDO1_ENST00000395335.2_Missense_Mutation_p.T33I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T33I	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	33					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.T33I(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTGGCGATAGTGGTCCTTCG	0.632000													4	27					0	0	0.000602	0	0
FSCB	84075	broad.mit.edu	37	14	44974853	44974853	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:44974853C>T	ENST00000340446.4	-	1	1629	c.1338G>A	c.(1336-1338)atG>atA	p.M446I		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	446						cilium		p.M446I(1)		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)		CAGGGGTCTCCATAGCTGTTG	0.493000													13	25					0	0	0.001855	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138715101	138715101	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:138715101G>A	ENST00000389532.4	-	11	1470	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A480V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A191V	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	469						cytoplasm|microtubule		p.A469V(1)		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)		TGGCTGGGACGCAGGCCTGAA	0.587000													9	54					0	0	0.004482	0	0
APOB	338	broad.mit.edu	37	2	21233898	21233898	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:21233898C>A	ENST00000233242.1	-	26	5969	c.5842G>T	c.(5842-5844)Ggc>Tgc	p.G1948C		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1948					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.G1948C(1)		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)	CTTGTGGAGCCTTTGTAATCA	0.483000													10	309					2.74318e-10	3.84917e-10	0.006214	1	0
SLC2A10	81031	broad.mit.edu	37	20	45358027	45358027	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:45358027G>C	ENST00000359271.2	+	4	1697	c.1447G>C	c.(1447-1449)Gga>Cga	p.G483R		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	483						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.G483R(1)		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)				CCTGCTCTACGGACTGACCGC	0.582000													11	123					0	0	0.000978	0	0
KIAA0355	9710	broad.mit.edu	37	19	34821190	34821190	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:34821190C>T	ENST00000299505.6	+	7	2074	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	401								p.P401S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGTTTGCCCTTCCACATG	0.527000													4	45					0	0	0.004482	0	0
KIF17	57576	broad.mit.edu	37	1	21009182	21009182	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:21009182C>A	ENST00000247986.2	-	11	2737	c.2427G>T	c.(2425-2427)cgG>cgT	p.R809R	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.R809R|KIF17_ENST00000375044.1_Silent_p.R709R			Q9P2E2	KIF17_HUMAN	kinesin family member 17	809					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.R809R(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTCTTGGCCCGCACTTCCT	0.632000													33	60					1.414e-09	1.92836e-09	0.003755	1	0
WDR49	151790	broad.mit.edu	37	3	167322097	167322097	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:167322097T>C	ENST00000308378.3	-	2	400	c.95A>G	c.(94-96)aAt>aGt	p.N32S	WDR49_ENST00000453925.2_Missense_Mutation_p.N85S|WDR49_ENST00000479765.1_Missense_Mutation_p.N373S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	32								p.N32S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACCAATTAAATTGAGCCGAGA	0.393000													25	73					0	0	0.005443	0	0
KCNH7	90134	broad.mit.edu	37	2	163361078	163361078	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:163361078G>C	ENST00000332142.5	-	6	1102	c.1003C>G	c.(1003-1005)Ctc>Gtc	p.L335V	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.L328V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	335					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L328V(1)|p.L335V(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTCAGAGTGAGCTGTGGAATC	0.378000													67	150					0	0	0.003610	0	0
TEX15	56154	broad.mit.edu	37	8	30695247	30695247	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:30695247T>C	ENST00000256246.2	-	3	7478	c.7404A>G	c.(7402-7404)acA>acG	p.T2468T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2468								p.T2468T(1)		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)		CTGGTGAAAATGTGCCATGTA	0.383000													16	347					0	0	0.003163	0	0
EGFLAM	133584	broad.mit.edu	37	5	38445800	38445800	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:38445800C>G	ENST00000354891.3	+	18	2830	c.2484C>G	c.(2482-2484)ctC>ctG	p.L828L	EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000397210.3_5'UTR	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	828						cell junction|proteinaceous extracellular matrix|synapse		p.L828L(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ACTACTGCCTCAATAGTAAGT	0.567000													28	158					0	0	0.007291	0	0
CD84	8832	broad.mit.edu	37	1	160523869	160523869	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:160523869T>A	ENST00000368054.3	-	3	491	c.456A>T	c.(454-456)acA>acT	p.T152T	CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.T152T|CD84_ENST00000534968.1_Silent_p.T38T|CD84_ENST00000311224.4_Silent_p.T152T|CD84_ENST00000368048.3_Silent_p.T152T|RP11-528G1.2_ENST00000446952.1_RNA	NM_003874.3	NP_003865.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	152	Ig-like C2-type.				blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity	p.T152T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGCATGTCAGTGTGACATTAC	0.458000													11	286					0	0	0.001368	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967727	161967727	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:161967727G>A	ENST00000294794.3	-	6	1785	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	OLFML2B_ENST00000367940.2_Silent_p.P455P	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	454								p.P454P(1)		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)			TGACTGTGGTGGGAGGCACTG	0.622000													24	322					0	0	0.009535	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169153	32169153	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:32169153C>G	ENST00000375023.3	-	22	4018	c.3880G>C	c.(3880-3882)Ggg>Cgg	p.G1294R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1294					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.G1294R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGGAGGGCCCCCACTCTGGG	0.632000													16	46					0	0	0.001882	0	0
MATN2	4147	broad.mit.edu	37	8	98973692	98973692	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:98973692C>T	ENST00000254898.5	+	5	1123	c.892C>T	c.(892-894)Ccg>Tcg	p.P298S	MATN2_ENST00000524308.1_Missense_Mutation_p.P298S|MATN2_ENST00000522025.2_Missense_Mutation_p.P14S|MATN2_ENST00000521689.1_Missense_Mutation_p.P298S|MATN2_ENST00000520016.1_Missense_Mutation_p.P298S	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	298	EGF-like 2.					proteinaceous extracellular matrix	calcium ion binding	p.P298S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGAATGTGCCGGGCTCCTT	0.572000													26	63					0	0	0.002096	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597009	136597009	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:136597009C>A	ENST00000531224.1	-	5	1906	c.1654G>T	c.(1654-1656)Gca>Tca	p.A552S	BCLAF1_ENST00000392348.2_Missense_Mutation_p.A550S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A379S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A550S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A550S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A552S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	552					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.A552S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GGAACAGGTGCCATTTTGAGT	0.403000													17	281					2.94398e-08	3.84739e-08	0.007413	1	0
ZNF71	58491	broad.mit.edu	37	19	57132930	57132930	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57132930G>T	ENST00000328070.6	+	3	509	c.275G>T	c.(274-276)cGg>cTg	p.R92L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	92						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R92L(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTCCCACCACGGCTGGACGAC	0.587000													22	33					9.62636e-23	1.60055e-22	0.002299	1	0
PCDHGB2	56103	broad.mit.edu	37	5	140740422	140740422	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140740422A>C	ENST00000522605.1	+	1	720	c.720A>C	c.(718-720)ccA>ccC	p.P240P	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.P240P(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAACCCTCCAGTGTTCAGCC	0.562000													20	62					0	0	0.001882	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62634766	62634766	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:62634766G>A	ENST00000337910.5	-	9	2098	c.1761C>T	c.(1759-1761)gcC>gcT	p.A587A	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Silent_p.A587A	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	587					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.A587A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CGCCACTCGTGGCGGCTTTGG	0.512000													13	95					0	0	0.003163	0	0
NOL8	55035	broad.mit.edu	37	9	95080959	95080959	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:95080959C>G	ENST00000545558.1	-	6	919	c.427G>C	c.(427-429)Gtg>Ctg	p.V143L	NOL8_ENST00000442668.2_Missense_Mutation_p.V143L|NOL8_ENST00000358855.4_Missense_Mutation_p.V75L|NOL8_ENST00000535387.1_Missense_Mutation_p.V143L|NOL8_ENST00000542053.1_Missense_Mutation_p.V75L			Q76FK4	NOL8_HUMAN	nucleolar protein 8	143					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding	p.V143L(2)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						AATTTGCTCACAACCCAATTC	0.279000													3	20					0	0	0.004672	0	0
IMPG1	3617	broad.mit.edu	37	6	76751728	76751728	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:76751728G>T	ENST00000369950.3	-	2	372	c.183C>A	c.(181-183)ttC>ttA	p.F61L	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	61					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.F61F(1)|p.F61L(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTGCCAAATCGAATATTCGTC	0.368000													54	85					2.31418e-15	3.54987e-15	0.003610	1	0
SRGAP2	23380	broad.mit.edu	37	1	206566979	206566979	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:206566979C>T	ENST00000414007.1	+	3	360	c.360C>T	c.(358-360)acC>acT	p.T120T	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	260					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.T120T(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGGAGGCAACCAATGCATCTG	0.468000													14	126					0	0	0.001855	0	0
NIT2	56954	broad.mit.edu	37	3	100058049	100058049	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:100058049G>T	ENST00000394140.3	+	2	217	c.126_splice	c.e2+1	p.P42_splice		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	42	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity	p.P42P(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTTCTTTGCCGGTCAGTATGG	0.507000													17	99					9.16793e-09	1.21281e-08	0.004990	1	0
CEACAM18	729767	broad.mit.edu	37	19	51983903	51983903	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51983903C>A	ENST00000396477.4	+	2	390	c.369C>A	c.(367-369)acC>acA	p.T123T	CEACAM18_ENST00000451626.1_Silent_p.T184T	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	184						integral to membrane		p.T123T(1)|p.T184T(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCAATGAGACCCAAAGAGCAA	0.537000													22	113					0.000229342	0.000261681	0.001882	1	0
LYPD6B	130576	broad.mit.edu	37	2	150061878	150061878	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:150061878C>A	ENST00000409642.3	+	4	590	c.189C>A	c.(187-189)gcC>gcA	p.A63A	LYPD6B_ENST00000409876.1_Silent_p.A39A|LYPD6B_ENST00000409029.1_Silent_p.A39A|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.A63A	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	39	UPAR/Ly6.					anchored to membrane|plasma membrane		p.A63A(1)		endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						GGGCATTTGCCAAGAACATCA	0.512000													123	264					3.97618e-41	6.91913e-41	0.003610	1	0
HGFAC	3083	broad.mit.edu	37	4	3451122	3451122	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:3451122C>T	ENST00000382774.3	+	14	2059	c.1944C>T	c.(1942-1944)ccC>ccT	p.P648P	HGFAC_ENST00000511533.1_Silent_p.P655P	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	648					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.P648P(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TACGGCCTCCCAGGCGGCTTG	0.627000													5	59					0	0	0.001984	0	0
GABRG1	2565	broad.mit.edu	37	4	46067560	46067560	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:46067560G>A	ENST00000295452.4	-	4	530	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAAACGACTGTCAAACCAGG	0.294000													13	27					0	0	0.004990	0	0
RELT	84957	broad.mit.edu	37	11	73103419	73103419	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:73103419G>T	ENST00000064780.2	+	6	792	c.531G>T	c.(529-531)ctG>ctT	p.L177L	RELT_ENST00000393580.2_Silent_p.L177L	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	177						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity	p.L177L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCATGGGGCTGTTGGGCATCC	0.682000													19	60					8.10497e-08	1.03962e-07	0.010504	1	0
TEC	7006	broad.mit.edu	37	4	48158716	48158716	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:48158716T>A	ENST00000381501.3	-	9	930	c.773A>T	c.(772-774)gAg>gTg	p.E258V		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	258	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E258V(1)		breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GAGGAGTTGCTCTGCCTTGCT	0.353000													11	173					0	0	0.001368	0	0
SLC44A5	204962	broad.mit.edu	37	1	75681537	75681537	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75681537G>C	ENST00000370855.5	-	19	1743	c.1630C>G	c.(1630-1632)Cag>Gag	p.Q544E	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q544E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q414E	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	544						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.Q544E(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AATGTGTTCTGGGTACCTATG	0.303000													8	49					0	0	0.008291	0	0
GPR156	165829	broad.mit.edu	37	3	119886498	119886498	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:119886498C>A	ENST00000464295.1	-	10	2271	c.1826G>T	c.(1825-1827)cGc>cTc	p.R609L	GPR156_ENST00000315843.3_Missense_Mutation_p.R609L|GPR156_ENST00000461057.1_Missense_Mutation_p.R605L			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	609						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.R609L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAAGTGTGAGCGGGCCCGCTG	0.602000													30	60					1.61788e-16	2.49755e-16	0.002445	1	0
MARCH1	55016	broad.mit.edu	37	4	164534637	164534637	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:164534637C>T	ENST00000339875.5	-	1	49	c.20G>A	c.(19-21)tGt>tAt	p.C7Y	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.C7Y(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AAAATTACAACAAACGTGGCT	0.353000													19	31					0	0	0.008871	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552708	140552708	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140552708C>A	ENST00000231137.3	+	1	466	c.292C>A	c.(292-294)Ccc>Acc	p.P98T		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		98	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P98T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGTGTGGCCCCAGAGAGCC	0.443000													10	139					1.58986e-06	1.96157e-06	0.008291	1	0
CABLES1	91768	broad.mit.edu	37	18	20716572	20716572	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:20716572G>T	ENST00000256925.7	+	1	845		c.e1+1		CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1						blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	p.?(1)		breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAGGTCCCGGTGAGTATCCG	0.692000													5	16					1.23904e-05	1.47259e-05	0.000602	1	0
ELAVL1	1994	broad.mit.edu	37	19	8038675	8038675	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:8038675C>G	ENST00000407627.2	-	4	493	c.364G>C	c.(364-366)Gta>Cta	p.V122L	ELAVL1_ENST00000351593.5_Missense_Mutation_p.V149L|ELAVL1_ENST00000596459.1_Missense_Mutation_p.V122L|ELAVL1_ENST00000593807.1_Missense_Mutation_p.V122L	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	122	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding	p.V122L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGTCTTCTACGTCCTTCTGG	0.592000													15	50					0	0	0.003163	0	0
NEK3	4752	broad.mit.edu	37	13	52709865	52709865	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:52709865C>A	ENST00000400357.2	-	12	2551	c.1258_splice	c.e12+1	p.G420_splice	NEK3_ENST00000339406.3_Splice_Site_p.G437_splice|NEK3_ENST00000378101.2_Splice_Site_p.G437_splice|NEK3_ENST00000452082.2_Splice_Site_p.G441_splice			P51956	NEK3_HUMAN	NIMA-related kinase 3	437					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G437C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CATGAATTACCTGGTCTATAT	0.353000													7	30					2.0095e-06	2.46056e-06	0.001984	1	0
HIVEP2	3097	broad.mit.edu	37	6	143091690	143091690	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:143091690C>A	ENST00000367603.2	-	5	4928	c.4186G>T	c.(4186-4188)Ggg>Tgg	p.G1396W	HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1396W|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1396W	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1396L(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GCATGCTGCCCCAGCACCTGG	0.522000													12	79					5.50884e-06	6.63658e-06	0.001368	1	0
COL9A1	1297	broad.mit.edu	37	6	70961991	70961991	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:70961991C>A	ENST00000357250.6	-	27	1950	c.1792G>T	c.(1792-1794)Ggt>Tgt	p.G598C	COL9A1_ENST00000370499.4_Missense_Mutation_p.G355C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G355C|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	598	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G598C(1)|p.G355C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCATCTGACCAGGCTTCCCT	0.428000													7	85					0.00307968	0.00332263	0.003080	1	0
CSMD1	64478	broad.mit.edu	37	8	2820078	2820078	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2820078G>T	ENST00000520002.1	-	62	10096	c.9541C>A	c.(9541-9543)Cag>Aag	p.Q3181K	CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3004K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3180K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3181K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3003K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3004K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3181	Sushi 26.					integral to membrane		p.Q2909K(1)|p.Q3180K(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATTTGCACTGGAAGAAGACT	0.502000													12	57					2.68362e-12	3.91849e-12	0.001368	1	0
PCDHA6	56142	broad.mit.edu	37	5	140207847	140207847	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140207847G>T	ENST00000529310.1	+	1	285	c.171G>T	c.(169-171)gcG>gcT	p.A57A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A57A|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.A57A(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.622000													10	105					2.27111e-07	2.84916e-07	0.001368	1	0
AKR1B15	441282	broad.mit.edu	37	7	134252977	134252977	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:134252977G>C	ENST00000457545.2	+	4	478	c.218G>C	c.(217-219)tGt>tCt	p.C73S	AKR1B15_ENST00000423958.1_Missense_Mutation_p.C45S	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	73							oxidoreductase activity	p.C45S(2)|p.C73S(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CACATTGACTGTGCCTATTTC	0.473000													11	116					0	0	0.000978	0	0
CEBPE	1053	broad.mit.edu	37	14	23586879	23586879	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:23586879G>T	ENST00000206513.5	-	2	1187	c.663C>A	c.(661-663)agC>agA	p.S221R		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S221R(1)		large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CCTTGTCTCGGCTCTTGCGCA	0.627000													14	69					4.93089e-13	7.33215e-13	0.002450	1	0
PCDH17	27253	broad.mit.edu	37	13	58207531	58207531	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:58207531G>T	ENST00000377918.3	+	1	877	c.851G>T	c.(850-852)aGc>aTc	p.S284I		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	284	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S284I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCTTTCAGCAGCTACGTGCCT	0.582000													8	58					0.000157383	0.000179787	0.003080	1	0
SCARA3	51435	broad.mit.edu	37	8	27517030	27517030	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:27517030T>C	ENST00000301904.3	+	5	1363	c.1343T>C	c.(1342-1344)aTc>aCc	p.I448T	SCARA3_ENST00000337221.4_Missense_Mutation_p.I448T	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	448					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity	p.I448T(1)		breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATGGAGAAATCCTTCGCAAT	0.557000													8	18					0	0	0.006214	0	0
TVP23C	201158	broad.mit.edu	37	17	15406280	15406280	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:15406280G>A	ENST00000225576.3	-	6	824	c.729C>T	c.(727-729)ctC>ctT	p.L243L	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)									p.L243L(1)									GCCGCAAGGAGAGAAATAGGC	0.592000													3	30					0	0	0.004672	0	0
ZFP42	132625	broad.mit.edu	37	4	188924650	188924650	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:188924650C>T	ENST00000326866.4	+	4	1097	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ZFP42_ENST00000509524.1_Missense_Mutation_p.S230L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	230					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S230L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GTTGAGAGCTCAAAACTAAAG	0.493000													6	78					0	0	0.001984	0	0
SLC30A2	7780	broad.mit.edu	37	1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532000													8	231					0	0	0.004482	0	0
PCDH10	57575	broad.mit.edu	37	4	134072783	134072783	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:134072783C>A	ENST00000264360.4	+	1	2314	c.1488C>A	c.(1486-1488)gcC>gcA	p.A496A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	496	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A496A(1)		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)		GCGCCAACGCCCAGCTTGCCT	0.587000													11	61					5.16669e-11	7.36689e-11	0.000978	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212103	90212103	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:90212103G>T	ENST00000390277.2	+	0	292																											AGGCTCCCAGGCTCCTCATCT	0.592000													25	64					1.42536e-11	2.06262e-11	0.004656	1	0
RASIP1	54922	broad.mit.edu	37	19	49224084	49224084	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49224084G>A	ENST00000222145.4	-	12	3067	c.2863C>T	c.(2863-2865)Cat>Tat	p.H955Y		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	955					signal transduction	Golgi stack|perinuclear region of cytoplasm		p.H955Y(2)		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)		GGAGGCCCATGGCGATAATTG	0.617000													29	226					0	0	0.002836	0	0
FSCN3	29999	broad.mit.edu	37	7	127236391	127236391	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:127236391T>A	ENST00000265825.5	+	3	1070	c.851T>A	c.(850-852)gTg>gAg	p.V284E	FSCN3_ENST00000420086.2_Missense_Mutation_p.V150E	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	284						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.V284E(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GATGGTGAGGTGCGTGCTGCT	0.552000													32	235					0	0	0.009535	0	0
MALAT1	378938	broad.mit.edu	37	11	65266460	65266460	+	RNA	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:65266460T>C	ENST00000534336.1	+	0	1228					NR_002819.2																						GTGATCGAATTCCGGTGATGC	0.502000													22	180					0	0	0.003954	0	0
FAM57B	83723	broad.mit.edu	37	16	30041747	30041747	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:30041747G>A	ENST00000380495.4	-	1	833	c.102C>T	c.(100-102)gcC>gcT	p.A34A		NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	34	TLC.					endoplasmic reticulum|integral to membrane		p.A34A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGACTGCGTCGGCCTCCTCCC	0.622000													5	37					0	0	0.000602	0	0
PRG4	10216	broad.mit.edu	37	1	186270816	186270816	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:186270816C>G	ENST00000445192.2	+	4	337	c.292C>G	c.(292-294)Ccc>Gcc	p.P98A	PRG4_ENST00000367486.3_Missense_Mutation_p.P98A|PRG4_ENST00000367483.4_Missense_Mutation_p.P57A|PRG4_ENST00000367484.3_Missense_Mutation_p.P57A|PRG4_ENST00000367485.4_Missense_Mutation_p.P98A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	98	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P98A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGTGCTGTCCCGATTATGA	0.493000													19	96					0	0	0.007413	0	0
DPYS	1807	broad.mit.edu	37	8	105456612	105456612	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:105456612C>G	ENST00000351513.2	-	4	789	c.657G>C	c.(655-657)ctG>ctC	p.L219L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	219					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.L219L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCGGCACAGCTCGTGGC	0.532000													7	47					0	0	0.004482	0	0
SMG1	23049	broad.mit.edu	37	16	18882704	18882704	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:18882704T>C	ENST00000446231.2	-	16	2696	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E	SMG1_ENST00000389467.3_Missense_Mutation_p.K762E			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	762	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K758E(1)|p.K762E(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AAAAGGCCTTTGCAAAATTTA	0.348000													10	19					0	0	0.008291	0	0
FKBP8	23770	broad.mit.edu	37	19	18649233	18649233	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:18649233T>C	ENST00000597960.2	-	5	685	c.565A>G	c.(565-567)Atc>Gtc	p.I189V	FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.I217V|FKBP8_ENST00000222308.3_Missense_Mutation_p.I189V|FKBP8_ENST00000596558.1_Missense_Mutation_p.I188V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	188	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.I189V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGCGGGGGGATGTATGGGCTC	0.677000													4	24					0	0	0.000602	0	0
OR5D18	219438	broad.mit.edu	37	11	55587852	55587852	+	Silent	SNP	C	C	T	rs148575844		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55587852C>T	ENST00000333976.4	+	1	767	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TGACTGCCATCACCATCTTCC	0.517000													24	88					0	0	0.002299	0	0
PLCXD1	55344	broad.mit.edu	37	X	215875	215875	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:215875C>T	ENST00000381657.2	+	7	1359	c.845C>T	c.(844-846)gCg>gTg	p.A282V	PLCXD1_ENST00000399012.1_Missense_Mutation_p.A282V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A282V	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	282					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.A282V(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGGCTGAGCGCGTGGGTCCGA	0.662000													16	22					0	0	0.007413	0	0
CNTFR	1271	broad.mit.edu	37	9	34564690	34564690	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:34564690G>T	ENST00000378980.3	-	4	519	c.226C>A	c.(226-228)Ctc>Atc	p.L76I	CNTFR_ENST00000351266.4_Missense_Mutation_p.L76I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	76	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	p.L76I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGGCCATGGAGCACCAGCTGA	0.627000													10	46					7.48243e-07	9.32662e-07	0.006214	1	0
POTEM	641455	broad.mit.edu	37	14	20010235	20010235	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20010235A>G	ENST00000551509.1	-	5	974	c.923T>C	c.(922-924)gTt>gCt	p.V308A	RP11-244H18.1_ENST00000547584.1_lincRNA	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	308										endometrium(4)|kidney(1)|lung(4)	9						AAGTATGAGAACAGTTCTAAA	0.368000													3	116					0	0	0.004672	0	0
IRF6	3664	broad.mit.edu	37	1	209974608	209974608	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:209974608C>T	ENST00000367021.3	-	3	323	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	51					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.E51K(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTTTCCTCTTCTTGTTGAGGG	0.438000										HNSCC(57;0.16)			9	204					0	0	0.000978	0	0
BRPF1	7862	broad.mit.edu	37	3	9788023	9788023	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:9788023C>T	ENST00000383829.2	+	13	3768	c.3364C>T	c.(3364-3366)Cat>Tat	p.H1122Y	BRPF1_ENST00000302054.3_Missense_Mutation_p.H1116Y|BRPF1_ENST00000433861.2_Missense_Mutation_p.H1021Y|BRPF1_ENST00000424362.1_Missense_Mutation_p.H1115Y|BRPF1_ENST00000457855.1_Missense_Mutation_p.H1116Y	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1116	PWWP.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.H1122Y(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TATGTTCCACCATGGGGTTCC	0.527000													33	116					0	0	0.003755	0	0
CSMD1	64478	broad.mit.edu	37	8	3008972	3008972	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3008972G>T	ENST00000520002.1	-	41	6536	c.5981C>A	c.(5980-5982)tCt>tAt	p.S1994Y	CSMD1_ENST00000602723.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1994Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1994	CUB 12.					integral to membrane		p.S1722Y(1)|p.S1993Y(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTGGGGTAAGAACCTGGGAA	0.488000													9	40					2.17888e-05	2.58011e-05	0.006214	1	0
OR4K1	79544	broad.mit.edu	37	14	20403987	20403987	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20403987T>C	ENST00000285600.4	+	1	221	c.162T>C	c.(160-162)caT>caC	p.H54H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H54H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGACTCCCATTTGAACTCTC	0.363000													34	428					0	0	0.002836	0	0
TRBV6-5	28602	broad.mit.edu	37	7	142180730	142180730	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:142180730G>T	ENST00000390368.2	-	0	194																											TCATATCCTGGGCACACTGCA	0.507000													19	409					2.70639e-06	3.29725e-06	0.002299	1	0
OR2L3	391192	broad.mit.edu	37	1	248224139	248224139	+	Silent	SNP	C	C	T	rs113796306		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248224139C>T	ENST00000359959.3	+	1	156	c.156C>T	c.(154-156)acC>acT	p.T52T	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T52T(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTGGACACCCATCTCCACA	0.403000													44	704					0	0	0.003610	0	0
CCDC65	85478	broad.mit.edu	37	12	49315195	49315195	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:49315195A>T	ENST00000266984.5	+	8	1651	c.1424A>T	c.(1423-1425)cAt>cTt	p.H475L	CCDC65_ENST00000320516.4_Missense_Mutation_p.H475L|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	475								p.H475I(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						CGTATAGCCCATCCAGGTGAT	0.428000													12	189					0	0	0.001855	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996204	57996204	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:57996204G>T	ENST00000316770.2	-	1	186	c.144C>A	c.(142-144)gcC>gcA	p.A48A		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A48A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CCCAGATGATGGCTGTGTTGC	0.527000													18	114					2.4624e-09	3.32543e-09	0.008871	1	0
TTN	7273	broad.mit.edu	37	2	179579781	179579781	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179579781C>T	ENST00000589042.1	-	90	26356	c.26132G>A	c.(26131-26133)gGg>gAg	p.G8711E	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7467E|TTN_ENST00000591111.1_Missense_Mutation_p.G8394E|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8394	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7467E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGATATTCCCCAATGTCTGC	0.448000													5	294					0	0	0.000602	0	0
ZNF614	80110	broad.mit.edu	37	19	52520455	52520455	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:52520455C>A	ENST00000270649.6	-	5	940	c.396G>T	c.(394-396)ttG>ttT	p.L132F	ZNF614_ENST00000356322.6_Missense_Mutation_p.L132F	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L132F(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TTTTTCTGTACAAGTCAAATG	0.338000													10	81					0.000442599	0.000499726	0.006214	1	0
NDUFA4	4697	broad.mit.edu	37	7	10978447	10978447	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:10978447T>A	ENST00000339600.5	-	2	317	c.119A>T	c.(118-120)aAt>aTt	p.N40I		NM_002489.3	NP_002480.1	O00483	NDUA4_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa	40					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.N40I(1)		large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	AACATCTGGATTGAACAATGC	0.393000													3	68					0	0	0.004672	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19685299	19685299	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:19685299G>T	ENST00000284885.3	-	18	2161	c.2128C>A	c.(2128-2130)Cag>Aag	p.Q710K		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	710	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.Q710K(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTTGAAATCTGGGTGGTCCAG	0.383000													23	60					9.57634e-11	1.35746e-10	0.003330	1	0
CSMD1	64478	broad.mit.edu	37	8	3205575	3205575	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3205575G>T	ENST00000520002.1	-	23	3971	c.3416C>A	c.(3415-3417)gCc>gAc	p.A1139D	CSMD1_ENST00000602723.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1139D			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1139	CUB 7.					integral to membrane		p.A867V(1)|p.A867D(1)|p.A1138D(1)|p.A1138V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCCCTTGCCGGCTTCTGTTTC	0.383000													3	22					0.004672	0.00501827	0.004672	1	0
IGSF3	3321	broad.mit.edu	37	1	117120124	117120124	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:117120124T>A	ENST00000369486.3	-	11	4160	c.3395A>T	c.(3394-3396)tAc>tTc	p.Y1132F	IGSF3_ENST00000369483.1_Missense_Mutation_p.Y1152F|IGSF3_ENST00000318837.6_Missense_Mutation_p.Y1152F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1132						integral to membrane		p.Y1132F(1)|p.Y1152F(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GGGGAAAGGGTAGAAGAAGAC	0.498000													14	79					0	0	0.003163	0	0
SLC44A5	204962	broad.mit.edu	37	1	75693506	75693506	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75693506T>G	ENST00000370855.5	-	13	1003	c.890A>C	c.(889-891)cAg>cCg	p.Q297P	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q297P|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q167P	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	297						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGGGCGTTCCTGAAGATTGGT	0.348000													6	53					0	0	0.001168	0	0
OR9K2	441639	broad.mit.edu	37	12	55524459	55524459	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:55524459C>T	ENST00000305377.5	+	1	995	c.907C>T	c.(907-909)Cta>Tta	p.L303L		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L303L(1)		NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATGTTACTCCCTAGTCACTCC	0.393000													45	132					0	0	0.003610	0	0
AK7	122481	broad.mit.edu	37	14	96922763	96922763	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:96922763T>C	ENST00000267584.4	+	11	1222	c.1178T>C	c.(1177-1179)cTg>cCg	p.L393P		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	393	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.L393P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TACTACAAACTGCATCACATC	0.393000													17	114					0	0	0.004990	0	0
TINAG	27283	broad.mit.edu	37	6	54185441	54185441	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:54185441G>T	ENST00000259782.4	+	2	515		c.e2+1		TINAG_ENST00000486436.1_Splice_Site|TINAG_ENST00000370864.3_Splice_Site|TINAG_ENST00000370869.3_Splice_Site	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAACTCCTGGTAATAAATTT	0.308000													29	54					2.81731e-10	3.9418e-10	0.002096	1	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813044	31813044	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:31813044G>T	ENST00000334067.3	+	1	448	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	133						intermediate filament		p.Q133H(1)		kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						GGAATTTCCAGGCAACTTGTT	0.458000													34	88					9.8876e-21	1.59748e-20	0.004878	1	0
FCGBP	8857	broad.mit.edu	37	19	40424077	40424077	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:40424077C>T	ENST00000221347.6	-	4	2133	c.2126G>A	c.(2125-2127)gGg>gAg	p.G709E		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	709						extracellular region	protein binding	p.G709E(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAGCCGCTCCCCACCGACCAC	0.632000													17	146					0	0	0.010504	0	0
PADI6	353238	broad.mit.edu	37	1	17714922	17714922	+	RNA	SNP	C	C	G	rs113151411		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:17714922C>G	ENST00000434762.2	+	0	776							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.H242Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CCGACCAGCACGCCTATACCT	0.537000													4	30					0	0	0.000602	0	0
PLAT	5327	broad.mit.edu	37	8	42044933	42044933	+	Silent	SNP	C	C	T	rs115361478	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:42044933C>T	ENST00000220809.4	-	6	778	c.522G>A	c.(520-522)ggG>ggA	p.G174G	PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.G128G|PLAT_ENST00000270189.6_Silent_p.G174G|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.G174G	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	174	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G174G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTTGTGGTTCCCCAGGCCCA	0.627000													5	33					0	0	0.003080	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216497	149216497	+	Missense_Mutation	SNP	G	G	A	rs45628534	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:149216497G>A	ENST00000309241.5	+	8	2511	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V788I|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V827I|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V763I	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	827					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.V827I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ggaCTCAGGGGTCAGCCCCAC	0.627000													5	99					0	0	0.000602	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5190192	5190192	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:5190192C>A	ENST00000274181.7	+	7	1294	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L386M	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	386	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L386M(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGCCATCTTACTGACTGGTCT	0.527000													17	88					0.00498961	0.00535349	0.004990	1	0
PLA2R1	22925	broad.mit.edu	37	2	160862202	160862202	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:160862202C>A	ENST00000283243.7	-	11	2001	c.1795G>T	c.(1795-1797)Gag>Tag	p.E599*	PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.E599*	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	599	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	p.E599*(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGCACCGGCTCGGGTTTCTGC	0.483000													20	37					6.70999e-13	9.91689e-13	0.004289	1	0
GABRG3	2567	broad.mit.edu	37	15	27777780	27777780	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:27777780C>T	ENST00000333743.6	+	10	1411	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	386				T -> P (in Ref. 1; AAB39369).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T386I(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CCACCACCAACTGCGATGATC	0.428000													7	32					0	0	0.001984	0	0
UBA6	55236	broad.mit.edu	37	4	68499973	68499973	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:68499973T>G	ENST00000322244.4	-	22	2059	c.2000A>C	c.(1999-2001)gAa>gCa	p.E667A		NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	667					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.E667A(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TAAGACTTCTTCTGCAGATGA	0.279000													14	43					0	0	0.003163	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125284984	125284984	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:125284984C>A	ENST00000431078.1	+	10	1961	c.1597C>A	c.(1597-1599)Ctg>Atg	p.L533M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	533	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L533M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAAGGTTCCCTGGGGAATTT	0.428000													41	76					1.62957e-23	2.73757e-23	0.008740	1	0
ZNF732	654254	broad.mit.edu	37	4	265785	265785	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:265785A>T	ENST00000419098.1	-	4	871	c.861T>A	c.(859-861)atT>atA	p.I287I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I259I(1)|p.I287I(1)		endometrium(1)|lung(2)	3						AGGATGAGGTAATGATTTTGC	0.393000													3	32					0	0	0.004672	0	0
ZFP14	57677	broad.mit.edu	37	19	36831785	36831785	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:36831785T>C	ENST00000270001.7	-	5	1058	c.943A>G	c.(943-945)Aag>Gag	p.K315E		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K315E(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCACATTCCTTACATTCATAG	0.423000													10	152					0	0	0.001368	0	0
SORL1	6653	broad.mit.edu	37	11	121429397	121429397	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:121429397A>T	ENST00000260197.7	+	20	2890	c.2761A>T	c.(2761-2763)Aag>Tag	p.K921*		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	921					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.K921*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGAGGATGTGAAGTGGCCCAA	0.547000													6	245					0	0	0.003080	0	0
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:5129756A>G	ENST00000588623.1	+	10	1676	c.576A>G	c.(574-576)gaA>gaG	p.E192E	ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	303					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.E303E(3)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443000													3	138					0	0	0.001984	0	0
VIM	7431	broad.mit.edu	37	10	17275676	17275676	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:17275676G>A	ENST00000544301.1	+	4	1128	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	VIM_ENST00000224237.5_Missense_Mutation_p.E239K|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	239	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	p.E239K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAACTCCACGAAGAGGTTAG	0.473000													13	70					0	0	0.001368	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993504	96993504	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:96993504C>T	ENST00000361124.4	+	1	1570	c.1159C>T	c.(1159-1161)Ctg>Ttg	p.L387L	ITPRIPL1_ENST00000542887.1_Silent_p.L371L|ITPRIPL1_ENST00000439118.2_Silent_p.L379L|ITPRIPL1_ENST00000536814.1_Silent_p.L371L	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	379						integral to membrane		p.L387L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTTGGTCTACCTGGTGAGTCA	0.597000													14	112					0	0	0.004007	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503432	140503432	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140503432G>C	ENST00000194152.1	+	1	1852	c.1852G>C	c.(1852-1854)Gcg>Ccg	p.A618P		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		618	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.A618P(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGTGTGGGCGCACAATGG	0.687000													11	75					0	0	0.001368	0	0
ANO7	50636	broad.mit.edu	37	2	242142826	242142826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:242142826C>A	ENST00000274979.8	+	9	1067	c.964C>A	c.(964-966)Cgc>Agc	p.R322S	ANO7_ENST00000402430.3_Missense_Mutation_p.R321S	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	322						cell junction|chloride channel complex|cytosol	chloride channel activity	p.R322S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCACTGGGCGCGCTGGGGCAA	0.687000													8	6					0.000274275	0.000310398	0.004482	1	0
F5	2153	broad.mit.edu	37	1	169515796	169515796	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:169515796G>A	ENST00000367796.3	-	11	1847	c.1646C>T	c.(1645-1647)gCt>gTt	p.A549V	F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.A549V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	549	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.A549V(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATCAAACACAGCAAACACAGC	0.433000													14	176					0	0	0.003163	0	0
GJB4	127534	broad.mit.edu	37	1	35227242	35227242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:35227242G>A	ENST00000339480.1	+	2	757	c.387G>A	c.(385-387)tgG>tgA	p.W129*	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	129					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.W129*(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GACTGTGGTGGACGTACTTGC	0.607000													20	48					0	0	0.010504	0	0
TPTE	7179	broad.mit.edu	37	21	10920156	10920156	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:10920156C>A	ENST00000298232.7	-	18	1411	c.1044G>T	c.(1042-1044)ctG>ctT	p.L348L	TPTE_ENST00000361285.4_Silent_p.L366L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L328L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	366	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L366L(2)|p.L348L(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAATAATACAGGCTTTCCT	0.383000													6	94					0.00116845	0.00129221	0.001168	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54925124	54925124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:54925124C>T	ENST00000293373.6	+	23	2666	c.2587C>T	c.(2587-2589)Cag>Tag	p.Q863*	NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.Q813*	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	863					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.Q863*(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGTGACCTCTCAGATTGTGGA	0.512000													8	291					0	0	0.003080	0	0
TBC1D21	161514	broad.mit.edu	37	15	74178875	74178875	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:74178875G>T	ENST00000300504.2	+	8	782	c.699G>T	c.(697-699)gtG>gtT	p.V233V	TBC1D21_ENST00000535547.2_Silent_p.V197V|TBC1D21_ENST00000562056.1_Silent_p.V196V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	233	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.V233V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGGGCTGTGCAGTCCCTCT	0.562000													7	42					0.000157383	0.000179787	0.003080	1	0
SLC26A3	1811	broad.mit.edu	37	7	107431513	107431513	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:107431513C>A	ENST00000340010.5	-	5	734	c.550G>T	c.(550-552)Gtg>Ttg	p.V184L	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V149L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	184					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.V184L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CCAGAAAGCACTGTGACTGAT	0.488000													5	41					0.00116845	0.00129221	0.001168	1	0
MYH13	8735	broad.mit.edu	37	17	10243518	10243518	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10243518T>A	ENST00000418404.3	-	17	2168	c.2005A>T	c.(2005-2007)Acc>Tcc	p.T669S	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T669S|MYH13_ENST00000570743.1_Missense_Mutation_p.T669S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	669	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.T669S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGAGGGTGGGTGCTCCTTAAG	0.433000													8	29					0	0	0.003080	0	0
GPAA1	8733	broad.mit.edu	37	8	145138042	145138042	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:145138042G>T	ENST00000355091.4	+	2	211	c.90G>T	c.(88-90)gtG>gtT	p.V30V	GPAA1_ENST00000361036.6_Intron	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	30					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	p.V30V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGCTACGTGGCGGGCATCG	0.672000													4	31					2.56e-06	3.12281e-06	0.009096	1	0
ZNF737	100129842	broad.mit.edu	37	19	20736525	20736525	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:20736525C>A	ENST00000427401.4	-	2	214	c.120G>T	c.(118-120)ctG>ctT	p.L40L	ZNF737_ENST00000596797.1_Silent_p.L40L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	40					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.L39L(1)		breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAGGAAGACCAGGTTTCTGT	0.348000													13	74					9.31168e-06	1.11488e-05	0.001855	1	0
HUWE1	10075	broad.mit.edu	37	X	53675171	53675171	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:53675171G>A	ENST00000342160.3	-	4	585	c.128C>T	c.(127-129)aCa>aTa	p.T43I	HUWE1_ENST00000262854.6_Missense_Mutation_p.T43I|HUWE1_ENST00000218328.8_Missense_Mutation_p.T43I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	43					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.T43I(2)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AATGTTCCATGTTTTGATCTG	0.388000													30	19					0	0	0.008361	0	0
RGPD3	653489	broad.mit.edu	37	2	107032375	107032375	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:107032375A>C	ENST00000409886.3	-	21	5082	c.4995T>G	c.(4993-4995)agT>agG	p.S1665R	RGPD3_ENST00000304514.7_Missense_Mutation_p.S1665R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1665					intracellular transport		binding	p.S1665R(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AGTGATCTGCACTTTTTGTGG	0.403000													33	210					0	0	0.004878	0	0
CSMD3	114788	broad.mit.edu	37	8	113516125	113516125	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113516125T>C	ENST00000297405.5	-	30	5221	c.4977A>G	c.(4975-4977)caA>caG	p.Q1659Q	CSMD3_ENST00000343508.3_Silent_p.Q1619Q|CSMD3_ENST00000352409.3_Silent_p.Q1659Q|CSMD3_ENST00000455883.2_Silent_p.Q1555Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1659	CUB 9.					integral to membrane|plasma membrane		p.Q1619Q(1)|p.Q1659Q(1)		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						ACTTGCTGTCTTGAAAACTTC	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	85					0	0	0.005443	0	0
TAB1	10454	broad.mit.edu	37	22	39822870	39822870	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:39822870G>T	ENST00000216160.6	+	9	1146	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	TAB1_ENST00000331454.3_Missense_Mutation_p.V362L	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	362	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	cytosol|endosome membrane	catalytic activity|protein binding	p.V362L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GACCCTGCTAGTGAGGAACTT	0.662000													4	107					1.024e-07	1.30829e-07	0.000602	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238672084	238672084	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:238672084C>T	ENST00000244815.5	+	10	1896	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	LRRFIP1_ENST00000289175.6_Silent_p.N520N|LRRFIP1_ENST00000392000.4_Silent_p.N576N|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	576	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	p.N552N(1)|p.N576N(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		aaaagaaaaacaagaagaaaa	0.378000													12	76					0	0	0.001368	0	0
EPB41L3	23136	broad.mit.edu	37	18	5397266	5397266	+	Missense_Mutation	SNP	C	C	A	rs140662824		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:5397266C>A	ENST00000341928.2	-	18	2972	c.2632G>T	c.(2632-2634)Ggg>Tgg	p.G878W	EPB41L3_ENST00000400111.3_Missense_Mutation_p.G656W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G183W|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G175W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G709W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G656W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G878W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	878	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G878W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCAGCATCCCCGCTGTCTCCC	0.617000													16	80					1.67942e-08	2.21564e-08	0.006122	1	0
CCDC65	85478	broad.mit.edu	37	12	49315194	49315194	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:49315194C>A	ENST00000266984.5	+	8	1650	c.1423C>A	c.(1423-1425)Cat>Aat	p.H475N	CCDC65_ENST00000320516.4_Missense_Mutation_p.H475N|ARF3_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	475								p.H475I(1)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						ACGTATAGCCCATCCAGGTGA	0.428000													12	189					9.31168e-06	1.11488e-05	0.001855	1	0
OR2L13	284521	broad.mit.edu	37	1	248263030	248263030	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248263030C>A	ENST00000366478.2	+	3	690	c.353C>A	c.(352-354)gCc>gAc	p.A118D	OR2L13_ENST00000358120.2_Missense_Mutation_p.A118D	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A118E(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACCTCCATGGCCTACGACCGT	0.512000													38	275					1.08052e-11	1.56595e-11	0.004289	1	0
HDAC11	79885	broad.mit.edu	37	3	13545601	13545601	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:13545601C>G	ENST00000433119.1	+	8	1005	c.530C>G	c.(529-531)tCa>tGa	p.S177*	HDAC11_ENST00000522202.1_Missense_Mutation_p.I168M|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.S59*|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.S87*|HDAC11_ENST00000404040.1_Missense_Mutation_p.I119M|HDAC11_ENST00000402259.1_Missense_Mutation_p.I53M|HDAC11_ENST00000402271.1_Missense_Mutation_p.I140M|HDAC11_ENST00000295757.3_Missense_Mutation_p.I219M|HDAC11_ENST00000446613.2_Missense_Mutation_p.I27M|HDAC11_ENST00000437379.2_Missense_Mutation_p.I191M			Q96DB2	HDA11_HUMAN	histone deacetylase 11	0	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.I219M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						cagagGCCATCAGGCGGAAGG	0.547000													3	19					0	0	0.009096	0	0
DARC	2532	broad.mit.edu	37	1	159175860	159175860	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:159175860A>T	ENST00000537147.1	+	3	1474	c.631A>T	c.(631-633)Act>Tct	p.T211S	DARC_ENST00000368122.2_Missense_Mutation_p.T211S|DARC_ENST00000368121.2_Missense_Mutation_p.T213S			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	211					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity	p.T213S(1)		large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					GGCCACACACACTGTAGCCTG	0.562000													9	146					0	0	0.008291	0	0
EPHA8	2046	broad.mit.edu	37	1	22915542	22915542	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:22915542G>T	ENST00000166244.3	+	5	1230	c.1158G>T	c.(1156-1158)gtG>gtT	p.V386V	EPHA8_ENST00000374644.4_Silent_p.V386V|EPHA8_ENST00000538803.1_Silent_p.V386V	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	386	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V386V(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCCGCTTTGTGCCCCAGCAGA	0.662000													6	20					8.12818e-05	9.41822e-05	0.001984	1	0
ACE	1636	broad.mit.edu	37	17	61566371	61566371	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:61566371G>C	ENST00000577647.1	+	6	842	c.797G>C	c.(796-798)cGg>cCg	p.R266P	ACE_ENST00000490216.2_Missense_Mutation_p.R266P|ACE_ENST00000428043.1_Missense_Mutation_p.R840P|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.R266P|ACE_ENST00000290863.6_Missense_Mutation_p.R266P|ACE_ENST00000290866.4_Missense_Mutation_p.R840P			P12821	ACE_HUMAN	angiotensin I converting enzyme	840	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R840P(1)|p.R266P(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GACCTGGAGCGGCTCTTCCAG	0.622000													20	46					0	0	0.010504	0	0
TTC17	55761	broad.mit.edu	37	11	43427092	43427092	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:43427092G>T	ENST00000039989.4	+	12	1522	c.1508G>T	c.(1507-1509)aGa>aTa	p.R503I	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R503I	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	503							binding	p.R503I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TGGCCTAAAAGAGCAGATTGT	0.368000													155	192					2.07621e-90	3.63899e-90	0.003610	1	0
PPM1G	5496	broad.mit.edu	37	2	27608704	27608704	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:27608704T>A	ENST00000344034.4	-	4	583	c.319A>T	c.(319-321)Act>Tct	p.T107S	PPM1G_ENST00000350803.4_Missense_Mutation_p.T107S	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	107					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.T107S(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ACTTCTTCAGTGGTCAATTTG	0.408000													12	69					0	0	0.000978	0	0
SPAM1	6677	broad.mit.edu	37	7	123594227	123594227	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:123594227A>G	ENST00000340011.5	+	3	960	c.603A>G	c.(601-603)gtA>gtG	p.V201V	SPAM1_ENST00000460182.1_Silent_p.V201V|SPAM1_ENST00000402183.2_Silent_p.V201V|SPAM1_ENST00000439500.1_Silent_p.V201V|SPAM1_ENST00000223028.7_Silent_p.V201V	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	201					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.V201V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTTCCTGGTAGAGACTATAA	0.383000													14	103					0	0	0.002450	0	0
PDHA2	5161	broad.mit.edu	37	4	96762021	96762021	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:96762021C>G	ENST00000295266.4	+	1	783	c.720C>G	c.(718-720)taC>taG	p.Y240*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	240					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.Y240*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCCCTGATTACTACAAGAGGG	0.428000													8	57					0	0	0.006214	0	0
OR10T2	128360	broad.mit.edu	37	1	158368475	158368475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:158368475C>A	ENST00000334438.1	-	1	781	c.782G>T	c.(781-783)cGg>cTg	p.R261L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261L(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					GGACTTGGGCCGCAGATAGAT	0.512000													9	67					3.86212e-05	4.50194e-05	0.008291	1	0
DCC	1630	broad.mit.edu	37	18	50705378	50705378	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:50705378G>T	ENST00000442544.2	+	9	2081	c.1465G>T	c.(1465-1467)Gtg>Ttg	p.V489L	DCC_ENST00000412726.1_Missense_Mutation_p.V337L|DCC_ENST00000581580.1_Missense_Mutation_p.V144L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	489	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V489L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCAGCTCACTGTGGGAAACCT	0.478000													14	58					0.00316338	0.00340915	0.003163	1	0
PLA2G4A	5321	broad.mit.edu	37	1	186909161	186909161	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:186909161A>C	ENST00000367466.3	+	10	1120	c.968A>C	c.(967-969)cAa>cCa	p.Q323P	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Q263P	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	323	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.Q323P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AATACTGCACAATGCCCTTTA	0.383000													17	138					0	0	0.007413	0	0
ROCK1	6093	broad.mit.edu	37	18	18586524	18586524	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:18586524G>A	ENST00000399799.1	-	16	2613	c.1673C>T	c.(1672-1674)tCg>tTg	p.S558L		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	558	Interaction with FHOD1.				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	p.S558L(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AGCTGTGTCCGATTCTGTCCT	0.358000													4	146					0	0	0.009096	0	0
WDR60	55112	broad.mit.edu	37	7	158683963	158683963	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:158683963A>G	ENST00000407559.3	+	8	1156	c.998A>G	c.(997-999)cAc>cGc	p.H333R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	333								p.H333R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TAGCATGGCCACGAGGAAGGC	0.607000													69	144					0	0	0.003610	0	0
TAAR6	319100	broad.mit.edu	37	6	132891677	132891677	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:132891677T>C	ENST00000275198.1	+	1	217	c.217T>C	c.(217-219)Tct>Cct	p.S73P		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	73						plasma membrane	G-protein coupled receptor activity	p.S73P(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCTCGTTGCCTCTCTGGCCTG	0.522000													39	157					0	0	0.002522	0	0
QSER1	79832	broad.mit.edu	37	11	32953814	32953814	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:32953814C>T	ENST00000399302.2	+	4	958	c.623C>T	c.(622-624)tCa>tTa	p.S208L	QSER1_ENST00000527788.1_Missense_Mutation_p.S208L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	208	Ser-rich.							p.S208L(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTGACTGGTTCACAGCACTCC	0.418000													5	120					0	0	0.000602	0	0
PID1	55022	broad.mit.edu	37	2	229890500	229890500	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:229890500C>A	ENST00000392054.3	-	4	934	c.595G>T	c.(595-597)Gag>Tag	p.E199*	PID1_ENST00000409462.1_Nonsense_Mutation_p.E119*|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Nonsense_Mutation_p.E168*|PID1_ENST00000354069.6_Nonsense_Mutation_p.E201*	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	201	PID.					cytoplasm		p.E199*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CTCTCGCACTCCACGGCGTGG	0.587000													15	150					1.49906e-05	1.77945e-05	0.002450	1	0
ZNF8	7554	broad.mit.edu	37	19	58805952	58805952	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:58805952A>G	ENST00000196548.5	+	4	909	c.778A>G	c.(778-780)Act>Gct	p.T260A	AC010642.1_ENST00000591325.1_3'UTR	NM_021089.2	NP_066575.2	P17098	ZNF8_HUMAN	zinc finger protein 8	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T260A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTACAAATGTACTGACTGTGG	0.483000													13	42					0	0	0.002450	0	0
OR2G2	81470	broad.mit.edu	37	1	247752015	247752015	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247752015G>T	ENST00000320065.1	+	1	354	c.354G>T	c.(352-354)ccG>ccT	p.P118P	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P118P(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCGTCCTCCCGGCTGTGATGT	0.522000													36	274					2.75727e-19	4.36044e-19	0.004878	1	0
FAM47C	442444	broad.mit.edu	37	X	37026518	37026518	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:37026518C>A	ENST00000358047.3	+	1	87	c.35C>A	c.(34-36)tCc>tAc	p.S12Y		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	12								p.S12Y(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGCCCAGTTCCCCGGGCATG	0.662000													5	19					0.000602214	0.000676794	0.000602	1	0
CCR8	1237	broad.mit.edu	37	3	39374244	39374244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:39374244C>A	ENST00000414803.1	+	3	320	c.249C>A	c.(247-249)tgC>tgA	p.C83*	CCR8_ENST00000545843.1_Missense_Mutation_p.A58D|CCR8_ENST00000326306.4_Missense_Mutation_p.A141D			P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	0					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	p.A141N(1)		NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GCCGTGTATGCCCTAAAGGTG	0.502000													36	251					1.66425e-11	2.40117e-11	0.004878	1	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108837	90108837	+	RNA	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:90108837T>A	ENST00000390271.2	+	0	128																											TCTCTGTGACTCCAGGGGAGA	0.488000													5	72					0	0	0.000602	0	0
C1orf141	400757	broad.mit.edu	37	1	67591503	67591503	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:67591503A>T	ENST00000371007.2	-	4	274	c.165T>A	c.(163-165)gcT>gcA	p.A55A	C1orf141_ENST00000544837.1_Silent_p.A55A|C1orf141_ENST00000371006.1_Silent_p.A55A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	55								p.A55A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						ACGCGGATGTAGCAAGAGCTT	0.363000													29	185					0	0	0.002096	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770490	31770490	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:31770490T>A	ENST00000240587.4	-	2	536	c.209A>T	c.(208-210)cAt>cTt	p.H70L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	70					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H70L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTCCATTTCATGGCAGGAAAA	0.592000													4	29					0	0	0.001168	0	0
SLC27A2	11001	broad.mit.edu	37	15	50519376	50519376	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:50519376G>A	ENST00000267842.5	+	7	1689		c.e7+1		SLC27A2_ENST00000544960.1_Splice_Site|SLC27A2_ENST00000380902.4_Splice_Site	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2						bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.?(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATACATTCCGGTTGGTTTTTC	0.398000													5	94					0	0	0.001168	0	0
AXIN2	8313	broad.mit.edu	37	17	63554271	63554271	+	Nonsense_Mutation	SNP	G	G	T	rs62640025		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:63554271G>T	ENST00000307078.5	-	2	781	c.468C>A	c.(466-468)taC>taA	p.Y156*	AXIN2_ENST00000375702.5_Nonsense_Mutation_p.Y156*|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	156	RGS.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.Y156*(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CATCTCTTATGTAGGTCTTGG	0.468000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				77	128					4.78148e-37	8.27597e-37	0.003610	1	0
TBXAS1	6916	broad.mit.edu	37	7	139655295	139655295	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:139655295G>C	ENST00000263552.6	+	11	1118	c.580G>C	c.(580-582)Gtc>Ctc	p.V194L	TBXAS1_ENST00000411653.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V193L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.V126L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V239L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V240L|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000462275.1_3'UTR	NM_001130966.2	NP_001124438.1	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	193				A -> P (in Ref. 2; AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/AAF99272/ AAF99273/AAF99274/AAF99275/AAF99276/ AAF99277/AAF99278/AAF99279 and 7; AAA36742).	hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.V194L(1)|p.V240L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GGTTGCCAGCGTCGCCTTTGG	0.572000													29	133					0	0	0.003271	0	0
DCLK3	85443	broad.mit.edu	37	3	36763072	36763072	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:36763072A>G	ENST00000416516.2	-	3	2021	c.1531T>C	c.(1531-1533)Ttt>Ctt	p.F511L	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	511	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.F511L(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CACACAGTAAATATAGGTCTC	0.428000													5	126					0	0	0.000602	0	0
CCDC74B	91409	broad.mit.edu	37	2	130897872	130897872	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:130897872C>T	ENST00000392984.3	-	4	1805	c.1062G>A	c.(1060-1062)atG>atA	p.M354I	CCDC74B_ENST00000310463.6_Missense_Mutation_p.M252I|CCDC74B_ENST00000409943.3_Missense_Mutation_p.M186I			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	252								p.M252I(1)		endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					CCGCCGCCCCCATCTGCCTGC	0.607000													68	123					0	0	0.003610	0	0
C3orf38	285237	broad.mit.edu	37	3	88202561	88202561	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:88202561G>A	ENST00000318887.3	+	2	625	c.315G>A	c.(313-315)ctG>ctA	p.L105L	C3orf38_ENST00000486971.1_Silent_p.L105L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	105					apoptosis			p.L103L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AACCACAACTGAAATTGAAGG	0.383000													62	90					0	0	0.003610	0	0
BTK	695	broad.mit.edu	37	X	100630242	100630242	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:100630242G>C	ENST00000308731.7	-	2	194	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	BTK_ENST00000372880.1_Missense_Mutation_p.L11V|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	11	PH.		L -> P (in XLA).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.L11V(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GATCGCTTCAGAAAGATGCTC	0.438000									Agammaglobulinemia, X-linked				44	110					0	0	0.002522	0	0
LAMA2	3908	broad.mit.edu	37	6	129571288	129571288	+	Missense_Mutation	SNP	C	C	A	rs112388307	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:129571288C>A	ENST00000421865.2	+	13	1863	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	605	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.T605K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGACATTTACCATATCATAT	0.403000													56	100					1.48873e-21	2.4295e-21	0.003610	1	0
TRRAP	8295	broad.mit.edu	37	7	98574387	98574387	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:98574387G>T	ENST00000359863.4	+	54	8429	c.8220G>T	c.(8218-8220)ccG>ccT	p.P2740P	TRRAP_ENST00000355540.3_Silent_p.P2722P|TRRAP_ENST00000446306.3_Silent_p.P2722P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2740	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.P2722P(1)|p.P2740P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCACCCCGCCGCAGCAGGTGA	0.478000													10	84					1.58986e-06	1.96157e-06	0.008291	1	0
ZNF543	125919	broad.mit.edu	37	19	57839594	57839594	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:57839594A>G	ENST00000321545.4	+	4	1109	c.764A>G	c.(763-765)tAt>tGt	p.Y255C		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y255C(1)		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)		GAGAAGCCCTATAAGTGCATG	0.498000													3	101					0	0	0.004672	0	0
HSD11B1	3290	broad.mit.edu	37	1	209878314	209878314	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:209878314C>A	ENST00000367028.2	+	2	196	c.27C>A	c.(25-27)ctC>ctA	p.L9L	HSD11B1_ENST00000367027.3_Silent_p.L9L|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Silent_p.L9L	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	9					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding	p.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AATATCTCCTCCCCATTCTGG	0.463000													16	124					1.3612e-06	1.68588e-06	0.003163	1	0
SSR1	6745	broad.mit.edu	37	6	7301605	7301605	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:7301605C>G	ENST00000244763.4	-	4	567	c.481G>C	c.(481-483)Gca>Cca	p.A161P	SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000479365.1_Missense_Mutation_p.A161P|SSR1_ENST00000534851.1_Missense_Mutation_p.A134P|SSR1_ENST00000474597.1_Missense_Mutation_p.A161P|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000462112.1_Missense_Mutation_p.A161P|SSR1_ENST00000397511.2_Missense_Mutation_p.A161P	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	161					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding	p.A161P(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					ATGGGCTCTGCAGGAATGAAA	0.428000													3	73					0	0	0.004672	0	0
MYOCD	93649	broad.mit.edu	37	17	12666523	12666523	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:12666523G>T	ENST00000425538.1	+	14	2723	c.2523G>T	c.(2521-2523)caG>caT	p.Q841H	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.Q793H	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	793					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.Q793H(1)|p.Q841H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CAGGCAGCCAGATCCCCTTTG	0.493000													41	110					1.82294e-38	3.1665e-38	0.003610	1	0
CD109	135228	broad.mit.edu	37	6	74407145	74407145	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:74407145C>A	ENST00000437994.2	+	2	528	c.97C>A	c.(97-99)Cca>Aca	p.P33T	CD109_ENST00000287097.5_Missense_Mutation_p.P33T|CD109_ENST00000422508.2_Missense_Mutation_p.P33T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	33						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.P33T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGTGACAGCCCCAGGGATCAT	0.507000													22	133					7.33628e-21	1.18725e-20	0.002299	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121668644	121668644	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:121668644G>T	ENST00000393386.2	+	14	5438	c.5027G>T	c.(5026-5028)aGt>aTt	p.S1676I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S816I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1676					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.S1676I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTAGAGGACAGTACATCCCCT	0.378000													39	112					1.07121e-22	1.77499e-22	0.006999	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627756	43627756	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:43627756G>T	ENST00000332857.6	-	4	959	c.931C>A	c.(931-933)Cag>Aag	p.Q311K		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.Q311K(1)|p.Q311E(1)									GCTTCCATCTGACAGGTCTCT	0.532000													9	366					0.000274275	0.000310398	0.004482	1	0
CD300LF	146722	broad.mit.edu	37	17	72700714	72700714	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:72700714C>T	ENST00000469092.1	-	3	570	c.294G>A	c.(292-294)atG>atA	p.M98I	CD300LF_ENST00000301573.9_Missense_Mutation_p.M95I|CD300LF_ENST00000583937.1_Missense_Mutation_p.M95I|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.M98I|CD300LF_ENST00000361254.4_Missense_Mutation_p.M98I|CD300LF_ENST00000326165.6_Missense_Mutation_p.M95I|CD300LF_ENST00000581500.1_Missense_Mutation_p.M98I|CD300LF_ENST00000464910.1_Missense_Mutation_p.M98I|RAB37_ENST00000402449.4_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	95	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.M95I(2)		endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGAGATCCTCCATGGTCACAG	0.483000													57	277					0	0	0.003610	0	0
PANK1	53354	broad.mit.edu	37	10	91371758	91371758	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:91371758C>A	ENST00000307534.4	-	2	906	c.751G>T	c.(751-753)Gtg>Ttg	p.V251L	PANK1_ENST00000371774.2_Missense_Mutation_p.V53L|PANK1_ENST00000342512.3_Missense_Mutation_p.V26L|PANK1_ENST00000322191.6_Missense_Mutation_p.V26L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	251					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	p.V251L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TCGAAATACACCAATTTAACC	0.458000													14	104					3.45872e-05	4.0807e-05	0.004007	1	0
ZWINT	11130	broad.mit.edu	37	10	58117948	58117948	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:58117948T>A	ENST00000373944.3	-	9	914		c.e9-2		ZWINT_ENST00000460654.1_Splice_Site|ZWINT_ENST00000318387.2_3'UTR|ZWINT_ENST00000361148.6_Splice_Site|ZWINT_ENST00000395405.1_3'UTR			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein						cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GTCAGAGGCCTGGGGAAGAAG	0.512000													41	113					0	0	0.002852	0	0
PMEL	6490	broad.mit.edu	37	12	56355437	56355437	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56355437C>A	ENST00000548747.1	-	2	818	c.156G>T	c.(154-156)tgG>tgT	p.W52C	PMEL_ENST00000550464.1_Intron|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.W52C|PMEL_ENST00000536427.1_Missense_Mutation_p.W52C|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.W52C|PMEL_ENST00000548493.1_Missense_Mutation_p.W52C|PMEL_ENST00000449260.2_Missense_Mutation_p.W52C			P40967	PMEL_HUMAN	premelanosome protein	52					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding	p.W52C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTTCTGTCCACTCTGGAT	0.522000													28	178					4.02929e-09	5.41139e-09	0.002096	1	0
C11orf84	144097	broad.mit.edu	37	11	63586320	63586320	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:63586320C>A	ENST00000294244.4	+	5	1079	c.780C>A	c.(778-780)gcC>gcA	p.A260A		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	260								p.A260A(1)		endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGCACCAGCCGAGGTCCGAC	0.632000													35	54					1.15183e-24	1.94509e-24	0.009718	1	0
ELF2	1998	broad.mit.edu	37	4	139981626	139981626	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:139981626C>A	ENST00000394235.2	-	9	1475	c.973G>T	c.(973-975)Gtt>Ttt	p.V325F	ELF2_ENST00000379550.1_Missense_Mutation_p.V337F|ELF2_ENST00000510408.1_Missense_Mutation_p.V265F|ELF2_ENST00000358635.3_Missense_Mutation_p.V277F|ELF2_ENST00000379549.2_Missense_Mutation_p.V248F|ELF2_ENST00000265495.4_Missense_Mutation_p.V325F|ELF2_ENST00000515489.1_5'UTR	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	337					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V325F(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CCACTGCGAACAGAGGATGCT	0.438000													22	129					6.44725e-10	8.90509e-10	0.002299	1	0
TREML3P	340206	broad.mit.edu	37	6	41184894	41184894	+	RNA	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:41184894C>A	ENST00000564680.1	-	0	316																											GGTGAGGGTCCACGTAGGAGA	0.562000													21	115					7.88262e-20	1.25476e-19	0.003330	1	0
DYRK1A	1859	broad.mit.edu	37	21	38853123	38853123	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:38853123G>T	ENST00000339659.3	+	4	1954	c.484G>T	c.(484-486)Gga>Tga	p.G162*	DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000398960.2_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000462274.1_3'UTR	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	171	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.G171*(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGGTTCCTTTGGACAGGTAAT	0.333000													15	42					1.99824e-07	2.51659e-07	0.004990	1	0
C14orf177	283598	broad.mit.edu	37	14	99183529	99183529	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:99183529C>G	ENST00000325812.2	+	4	715	c.296C>G	c.(295-297)gCt>gGt	p.A99G		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	99								p.A99G(1)|p.A99V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				ATAATGTCTGCTTCGACCATC	0.413000													10	74					0	0	0.006214	0	0
WDR7	23335	broad.mit.edu	37	18	54547264	54547264	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:54547264G>C	ENST00000254442.3	+	21	3605	c.3394G>C	c.(3394-3396)Gta>Cta	p.V1132L	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.V1099L	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1132								p.V1132L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTTACTTGGAGTAATAGGAGC	0.423000													15	82					0	0	0.004007	0	0
OR2M4	26245	broad.mit.edu	37	1	248402946	248402946	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248402946C>A	ENST00000306687.1	+	1	716	c.716C>A	c.(715-717)aCt>aAt	p.T239N		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T239N(1)		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)			AAGGCCTTCACTACCTGCTCC	0.502000													17	86					2.35188e-11	3.38824e-11	0.006122	1	0
GALR2	8811	broad.mit.edu	37	17	74071267	74071267	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:74071267G>T	ENST00000329003.3	+	1	393	c.303G>T	c.(301-303)gtG>gtT	p.V101V		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	101					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	p.V101V(1)		cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCAAGGCGGTGCACTTCCTCA	0.657000													37	46					5.43694e-19	8.57024e-19	0.005524	1	0
NOMO1	23420	broad.mit.edu	37	16	14989374	14989374	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:14989374A>T	ENST00000287667.7	+	31	3712	c.3541A>T	c.(3541-3543)Att>Ttt	p.I1181F		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1181						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.I1181F(1)		endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTTCTAGCTCATTCCTTTGCT	0.542000													72	233					0	0	0.003610	0	0
STK11	6794	broad.mit.edu	37	19	1219360	1219360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:1219360G>T	ENST00000326873.7	+	3	1585	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	138	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Q137_E138>H*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCATGCAGGAAATGCTGGA	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	3					0.00307968	0.00332263	0.003080	1	0
RHOD	29984	broad.mit.edu	37	11	66837915	66837915	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:66837915A>G	ENST00000308831.2	+	4	435	c.350A>G	c.(349-351)cAt>cGt	p.H117R	RHOD_ENST00000532559.1_Missense_Mutation_p.H51R|RHOD_ENST00000533360.1_3'UTR	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	117					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	p.H117R(1)		lung(3)	3						GAAGTGAATCATTTCTGCAAG	0.567000													32	56					0	0	0.003271	0	0
CLN3	1201	broad.mit.edu	37	16	28488912	28488912	+	Silent	SNP	G	G	T	rs1064886		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:28488912G>T	ENST00000569430.1	-	17	2061	c.1242C>A	c.(1240-1242)atC>atA	p.I414I	CLN3_ENST00000333496.9_Silent_p.I390I|CLN3_ENST00000395653.4_Silent_p.I314I|CLN3_ENST00000360019.2_Silent_p.I414I|CLN3_ENST00000357806.7_Silent_p.I315I|CLN3_ENST00000355477.5_Silent_p.I366I|CLN3_ENST00000357857.9_Silent_p.I360I|CLN3_ENST00000359984.7_Silent_p.I414I|CLN3_ENST00000567963.1_Silent_p.I317I|CLN3_ENST00000354630.5_Silent_p.I397I|CLN3_ENST00000568224.1_Silent_p.I336I|CLN3_ENST00000535392.1_Silent_p.I336I|CLN3_ENST00000565316.1_Silent_p.I397I			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	414					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	p.I414I(1)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GTGTGTCAGAGATGCAGGTGG	0.617000													35	70					1.07121e-22	1.77499e-22	0.006999	1	0
OR2L13	284521	broad.mit.edu	37	1	248263031	248263031	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:248263031C>A	ENST00000366478.2	+	3	691	c.354C>A	c.(352-354)gcC>gcA	p.A118A	OR2L13_ENST00000358120.2_Silent_p.A118A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.A118E(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTCCATGGCCTACGACCGTT	0.507000													38	269					1.66425e-11	2.40117e-11	0.004878	1	0
CPEB4	80315	broad.mit.edu	37	5	173376573	173376573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:173376573G>T	ENST00000265085.5	+	6	2973	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	CPEB4_ENST00000519835.1_Nonsense_Mutation_p.E482*|CPEB4_ENST00000517880.1_Nonsense_Mutation_p.E100*|CPEB4_ENST00000522336.1_Nonsense_Mutation_p.E117*|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.E482*|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.E490*	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	507	RRM 1.						nucleotide binding|RNA binding	p.E507*(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCATAAAGCTGAGAGCAAATC	0.323000													6	79					0.00198382	0.00215952	0.001984	1	0
CSPG4	1464	broad.mit.edu	37	15	75982722	75982722	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:75982722A>T	ENST00000308508.5	-	3	776	c.684T>A	c.(682-684)ttT>ttA	p.F228L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	228	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.F228L(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGGTGAGTGTAAACTCTAGGG	0.617000													23	36					0	0	0.003954	0	0
TMEM30A	55754	broad.mit.edu	37	6	75969072	75969072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:75969072G>A	ENST00000230461.6	-	5	1005	c.676C>T	c.(676-678)Cga>Tga	p.R226*	TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.R190*|TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.R107*	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	226						integral to membrane		p.R226*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTTAAATCGTTCTTCCAGG	0.308000													42	112					0	0	0.003610	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142586820	142586820	+	Silent	SNP	G	G	A	rs79503222		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:142586820G>A	ENST00000378004.3	+	21	2401	c.2046G>A	c.(2044-2046)gcG>gcA	p.A682A	ARHGAP26_ENST00000274498.4_Silent_p.A682A|ARHGAP26_ENST00000486650.1_Intron	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	682	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.A682A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTTCTCGGCGCCATCCAGCC	0.557000													6	109					0	0	0.003080	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914084	39914084	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:39914084G>A	ENST00000425673.1	+	16	2628	c.2303G>A	c.(2302-2304)gGt>gAt	p.G768D	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G738D|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G797D|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	797					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	p.G738D(1)|p.G755D(1)|p.G797D(1)		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)			TCGGATCTGGGTGGAGACAGC	0.652000													4	22					0	0	0.001168	0	0
TBCEL	219899	broad.mit.edu	37	11	120924346	120924346	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:120924346A>T	ENST00000422003.2	+	4	548	c.360A>T	c.(358-360)acA>acT	p.T120T	TBCEL_ENST00000529397.1_Silent_p.T120T	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	120						cytoplasm|cytoskeleton		p.T120T(1)	TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TAGAAAGAACATGTGCTGGGT	0.433000													6	185					0	0	0.001168	0	0
SVIL	6840	broad.mit.edu	37	10	29782203	29782203	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:29782203G>A	ENST00000375398.2	-	23	4408	c.3959C>T	c.(3958-3960)cCa>cTa	p.P1320L	SVIL_ENST00000538146.1_Missense_Mutation_p.P112L|SVIL_ENST00000355867.4_Missense_Mutation_p.P1320L|SVIL_ENST00000535393.1_Missense_Mutation_p.P234L|SVIL_ENST00000375400.3_Missense_Mutation_p.P894L			O95425	SVIL_HUMAN	supervillin	1320					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.P1320L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGGACTTCTTGGCATATTATA	0.468000													15	47					0	0	0.003163	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279694	47279694	+	Missense_Mutation	SNP	G	G	T	rs139993247	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:47279694G>T	ENST00000271153.4	+	6	767	c.731G>T	c.(730-732)cGc>cTc	p.R244L	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R82L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R245L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R230L			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	244					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCACATGGCCGCCGCTTCCTG	0.592000													49	102					1.38909e-20	2.23313e-20	0.003610	1	0
METTL7B	196410	broad.mit.edu	37	12	56075950	56075950	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56075950A>G	ENST00000394252.3	+	1	621	c.412A>G	c.(412-414)Atg>Gtg	p.M138V		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	138							methyltransferase activity	p.M88V(1)|p.M138V(1)		kidney(1)|large_intestine(1)|lung(4)	6						TGATGGCTCCATGGATGTGGT	0.577000													11	50					0	0	0.001368	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098720	78098720	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:78098720C>T	ENST00000370801.3	-	5	795	c.320G>A	c.(319-321)aGg>aAg	p.R107K	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R107K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTGTTTGCCTTCTCTCACA	0.388000													39	266					0	0	0.004289	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231528	29231528	+	RNA	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:29231528C>T	ENST00000441381.1	+	0	79																		p.C110Y(1)|p.C110F(1)									CAGAAGCATACATTCAACCGT	0.458000													12	338					0	0	0.002450	0	0
NR4A3	8013	broad.mit.edu	37	9	102595811	102595811	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:102595811T>A	ENST00000338488.4	+	5	2058	c.1329T>A	c.(1327-1329)gaT>gaA	p.D443E	NR4A3_ENST00000395097.2_Intron|NR4A3_ENST00000330847.1_Intron	NM_173199.2	NP_775291.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	0	Ligand-binding (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	p.D443E(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				TAAGAGTTGATTGAATGATTT	0.343000			T	EWSR1	extraskeletal myxoid chondrosarcoma								21	82					0	0	0.002299	0	0
DGKK	139189	broad.mit.edu	37	X	50133404	50133404	+	RNA	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:50133404C>A	ENST00000376025.2	-	0	1907							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.W412C(1)|p.W412S(1)|p.W412F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCACACTCCATCTGAAAT	0.388000													23	82					3.08376e-08	4.01924e-08	0.003330	1	0
TRPM4	54795	broad.mit.edu	37	19	49671273	49671273	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:49671273G>A	ENST00000252826.5	+	4	493	c.367G>A	c.(367-369)Ggg>Agg	p.G123R	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.G123R	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	123					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	p.G123R(1)		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)		GTCAGTGCTGGGGGGATCGGG	0.672000													30	200					0	0	0.009535	0	0
CHRNA4	1137	broad.mit.edu	37	20	61991018	61991018	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61991018T>A	ENST00000370263.4	-	2	331	c.110A>T	c.(109-111)gAg>gTg	p.E37V	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	37					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.E37V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGCCGCTCCTCGGCGTGGGC	0.667000													8	61					0	0	0.000978	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181570	140181570	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140181570C>T	ENST00000522353.2	+	1	788	c.788C>T	c.(787-789)aCc>aTc	p.T263I	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T263I|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.T263I(2)		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)			CTAGTGGTGACCGTTAACGCC	0.408000													25	83					0	0	0.003330	0	0
OR6C1	390321	broad.mit.edu	37	12	55715313	55715313	+	Silent	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:55715313A>C	ENST00000379668.2	+	1	968	c.930A>C	c.(928-930)acA>acC	p.T310T		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T310T(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TATTTTTCACAAGCACATGAA	0.408000													30	213					0	0	0.009535	0	0
HECW1	23072	broad.mit.edu	37	7	43484383	43484383	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:43484383C>A	ENST00000395891.1	+	11	2217	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	HECW1_ENST00000453890.1_Missense_Mutation_p.P538T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	538					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.P538T(1)|p.P517T(1)		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						CTGCTCCTTGCCTGTGTCCGA	0.657000													14	48					1.15088e-07	1.45698e-07	0.004007	1	0
COL4A5	1287	broad.mit.edu	37	X	107938500	107938500	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:107938500A>T	ENST00000328300.6	+	52	5069	c.4825A>T	c.(4825-4827)Aca>Tca	p.T1609S	COL4A5_ENST00000361603.2_Missense_Mutation_p.T1603S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1603	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	p.T1603S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTATAGCATACAAGTGCAGG	0.483000									Alport syndrome with Diffuse Leiomyomatosis				23	93					0	0	0.006320	0	0
TGM6	343641	broad.mit.edu	37	20	2375141	2375141	+	Silent	SNP	C	C	G	rs147506152	by1000genomes	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:2375141C>G	ENST00000202625.2	+	2	112	c.51C>G	c.(49-51)ggC>ggG	p.G17G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647000													4	30					0	0	0.009096	0	0
SLC22A11	55867	broad.mit.edu	37	11	64323733	64323733	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:64323733T>A	ENST00000301891.4	+	1	636	c.262T>A	c.(262-264)Ttc>Atc	p.F88I	SLC22A11_ENST00000377585.3_Missense_Mutation_p.F88I|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F88I	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	88					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.F88I(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GTGCCGCCGCTTCCGCCAGCC	0.657000											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	47					0	0	0.001368	0	0
HOXA10	3206	broad.mit.edu	37	7	27213858	27213858	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27213858C>A	ENST00000283921.4	-	1	67	c.68G>T	c.(67-69)aGc>aTc	p.S23I	RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	23					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S6I(1)|p.S23I(1)		breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CGCGGCGGGGCTCTCCGAGCA	0.597000													8	25					0.000673444	0.000755097	0.008291	1	0
OR4C3	256144	broad.mit.edu	37	11	48346719	48346719	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:48346719C>G	ENST00000319856.4	+	1	248	c.227C>G	c.(226-228)tCc>tGc	p.S76C		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S76C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						ACTATCACCTCCAGCCCCACG	0.458000													6	250					0	0	0.001984	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764600	89764600	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:89764600C>A	ENST00000289805.5	-	3	485	c.417G>T	c.(415-417)gtG>gtT	p.V139V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	139								p.V139V(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GCAGGGCGGTCACCATGAGCC	0.657000													32	105					2.40579e-17	3.74363e-17	0.006230	1	0
BRD9	65980	broad.mit.edu	37	5	870664	870664	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:870664G>A	ENST00000323510.4	-	11	1160	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	BRD9_ENST00000467963.1_Silent_p.S483S|BRD9_ENST00000483173.1_Silent_p.S430S|BRD9_ENST00000388890.4_Silent_p.S367S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	483							nucleic acid binding	p.S483S(1)|p.S387S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAACAGAGCTGCTGCTGTCTC	0.478000													15	38					0	0	0.003163	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835161	27835161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:27835161C>A	ENST00000331442.3	-	1	198	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.K49N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						CAGCCACAGCCTTGGTGATCA	0.592000													7	159					0.00307968	0.00332263	0.003080	1	0
KIAA0408	9729	broad.mit.edu	37	6	127775126	127775126	+	Translation_Start_Site	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:127775126T>G	ENST00000483725.3	-	2	337	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	1							protein binding	p.M1L(1)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TGTAGGTCCATGGCAACAGTG	0.418000													22	169					0	0	0.002780	0	0
SYNE3	161176	broad.mit.edu	37	14	95906001	95906001	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:95906001C>G	ENST00000334258.5	-	12	2208	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	SYNE3_ENST00000557275.1_Missense_Mutation_p.E732Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.E489Q	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3									p.E732Q(3)		breast(1)|endometrium(2)|lung(25)	28						TCTGCCAGCTCCCTGAGCTCC	0.637000													14	47					0	0	0.004990	0	0
KCNS3	3790	broad.mit.edu	37	2	18112296	18112296	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:18112296C>T	ENST00000403915.1	+	3	472	c.21C>T	c.(19-21)ttC>ttT	p.F7F	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.F7F			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	7					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.F7F(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTGAGTTTTTCCATCGCCCTG	0.527000													33	69					0	0	0.005524	0	0
WDR16	146845	broad.mit.edu	37	17	9503448	9503448	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:9503448C>G	ENST00000352665.5	+	6	770	c.701C>G	c.(700-702)cCc>cGc	p.P234R	WDR16_ENST00000299764.5_Missense_Mutation_p.P244R|WDR16_ENST00000396219.3_Missense_Mutation_p.P166R	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	234						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.P234R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAAATGAACCCCAGGACTAAA	0.468000													5	282					0	0	0.001984	0	0
KCNH7	90134	broad.mit.edu	37	2	163292062	163292062	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:163292062G>T	ENST00000332142.5	-	8	1699	c.1600C>A	c.(1600-1602)Ctt>Att	p.L534I	KCNH7_ENST00000328032.4_Missense_Mutation_p.L527I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	534					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L527I(1)|p.L534I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ACGCGCACAAGACGGAGGAGT	0.453000													6	71					0.00116845	0.00129221	0.001168	1	0
BCL11A	53335	broad.mit.edu	37	2	60687791	60687791	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:60687791C>T	ENST00000335712.6	-	4	2483	c.2256G>A	c.(2254-2256)aaG>aaA	p.K752K	BCL11A_ENST00000538214.1_Silent_p.K718K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.K718K|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	752					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.K752K(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCTACAGTTCTTGAAGACTT	0.562000			T	IGH@	B-CLL								50	96					0	0	0.003610	0	0
INPP5F	22876	broad.mit.edu	37	10	121571426	121571426	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:121571426G>T	ENST00000361976.2	+	15	2011	c.1845G>T	c.(1843-1845)gaG>gaT	p.E615D		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	615							phosphoric ester hydrolase activity	p.E615D(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGATGATGAGAAGTTCCATG	0.463000													21	121					1.96292e-10	2.76232e-10	0.010504	1	0
APAF1	317	broad.mit.edu	37	12	99074148	99074148	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:99074148A>G	ENST00000357310.1	+	14	2591	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.I672V|APAF1_ENST00000549007.1_Missense_Mutation_p.I672V|APAF1_ENST00000339433.3_Missense_Mutation_p.I672V|APAF1_ENST00000359972.2_Missense_Mutation_p.I661V|APAF1_ENST00000550527.1_Missense_Mutation_p.I661V|APAF1_ENST00000551964.1_Missense_Mutation_p.I672V|APAF1_ENST00000552268.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	672					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.I672V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGACAGATTTATAGCAACCTG	0.373000													17	27					0	0	0.010504	0	0
BRMS1	25855	broad.mit.edu	37	11	66109713	66109713	+	Splice_Site	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:66109713C>T	ENST00000359957.3	-	2	154		c.e2-1		BRMS1_ENST00000425825.2_Splice_Site	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1						apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CATCTGGACTCTGGGAGAAGG	0.542000													19	142					0	0	0.008871	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23814671	23814671	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:23814671G>A	ENST00000264867.2	-	9	1990	c.1871C>T	c.(1870-1872)tCa>tTa	p.S624L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	624	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.S624L(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGGCGATCTTGAACGTGATCT	0.493000													6	248					0	0	0.001984	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526032	68526032	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:68526032C>A	ENST00000433211.1	-	9	1445	c.1271G>T	c.(1270-1272)aGg>aTg	p.R424M	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R424M|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	424					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R424M(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTACAAGCCTGCTGGTGTG	0.408000													29	234					1.39806e-14	2.1145e-14	0.008361	1	0
TTN	7273	broad.mit.edu	37	2	179650683	179650683	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179650683G>A	ENST00000589042.1	-	14	2486	c.2262C>T	c.(2260-2262)gcC>gcT	p.A754A	TTN_ENST00000342175.6_Silent_p.A708A|TTN_ENST00000460472.2_Silent_p.A708A|TTN_ENST00000342992.6_Silent_p.A754A|TTN_ENST00000591111.1_Silent_p.A754A|TTN_ENST00000359218.5_Silent_p.A708A|TTN_ENST00000360870.5_Silent_p.A754A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	754							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)			GGGGTTCTGAGGCTGGACGTT	0.488000													5	112					0	0	0.001168	0	0
CXCL1	2919	broad.mit.edu	37	4	74735400	74735400	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:74735400A>G	ENST00000395761.3	+	2	182	c.115A>G	c.(115-117)Act>Gct	p.T39A	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	39					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity	p.T39A(1)		lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GTCCGTGGCCACTGAACTGCG	0.652000													18	142					0	0	0.010504	0	0
FAT2	2196	broad.mit.edu	37	5	150947284	150947284	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:150947284A>G	ENST00000261800.5	-	1	1221	c.1209T>C	c.(1207-1209)aaT>aaC	p.N403N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	403	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.N403N(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAATCCTACATTCTCTGAAG	0.502000													14	77					0	0	0.002450	0	0
WDR72	256764	broad.mit.edu	37	15	54003555	54003555	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:54003555A>T	ENST00000396328.1	-	8	1074	c.835T>A	c.(835-837)Tac>Aac	p.Y279N	WDR72_ENST00000360509.5_Missense_Mutation_p.Y279N|WDR72_ENST00000557913.1_Missense_Mutation_p.Y278N|WDR72_ENST00000559418.1_Missense_Mutation_p.Y279N	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	279								p.Y279N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGATAGATGTAACTGTGACCA	0.448000													15	94					0	0	0.004990	0	0
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557000		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)			7	20					0	0	0.003080	0	0
KIF16B	55614	broad.mit.edu	37	20	16488723	16488723	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:16488723C>A	ENST00000354981.2	-	7	736	c.579G>T	c.(577-579)caG>caT	p.Q193H	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q193H|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q193H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	193	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.Q193H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACCATAATTCTGTACTAAAT	0.413000													6	291					8.12818e-05	9.41822e-05	0.001984	1	0
FAM47B	170062	broad.mit.edu	37	X	34961456	34961456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:34961456G>T	ENST00000329357.5	+	1	544	c.508G>T	c.(508-510)Gag>Tag	p.E170*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	170								p.E170*(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGAGGCCCGGGAGAAGACAAC	0.597000													23	15					2.89027e-11	4.13321e-11	0.002299	1	0
TAB2	23118	broad.mit.edu	37	6	149700627	149700627	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:149700627G>T	ENST00000367456.1	+	4	2153	c.1576G>T	c.(1576-1578)Gga>Tga	p.G526*	TAB2_ENST00000536230.1_Nonsense_Mutation_p.G494*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.G526*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	526					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	p.G526*(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACTGAGTATGGGATCTGATGA	0.418000													49	107					6.23363e-37	1.07702e-36	0.003610	1	0
EPHA6	285220	broad.mit.edu	37	3	96963115	96963115	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:96963115G>T	ENST00000389672.5	+	5	1628	c.1590G>T	c.(1588-1590)gtG>gtT	p.V530V	EPHA6_ENST00000470610.2_Silent_p.V530V	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	435	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V436V(3)|p.V530V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CTATTACAGTGACCACGGATC	0.388000													8	64					9.70103e-10	1.33423e-09	0.008291	1	0
SECISBP2L	9728	broad.mit.edu	37	15	49284799	49284799	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:49284799A>C	ENST00000559471.1	-	18	3211	c.2948T>G	c.(2947-2949)cTt>cGt	p.L983R	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L938R	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	983								p.L938R(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCCAGGTACAAGAGTGCTGGT	0.478000													4	97					0	0	0.000602	0	0
SLC24A5	283652	broad.mit.edu	37	15	48413344	48413344	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48413344C>A	ENST00000482911.2	+	1	144	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	SLC24A5_ENST00000449382.2_Missense_Mutation_p.R35S|SLC24A5_ENST00000341459.3_Missense_Mutation_p.R35S			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	35					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R35S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGCCCCAACGTCTCCCAAG	0.587000													6	14					2.0095e-06	2.46056e-06	0.001984	1	0
TGFB1	7040	broad.mit.edu	37	19	41847787	41847787	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:41847787C>A	ENST00000221930.5	-	5	1727		c.e5+1			NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1						active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding	p.?(1)		endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	ACAAGGCTCACCTGAAGCAAT	0.632000													6	54					0.00116845	0.00129221	0.001168	1	0
CHEK1	1111	broad.mit.edu	37	11	125499354	125499354	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:125499354G>T	ENST00000534070.1	+	5	678	c.424_splice	c.e5+1	p.R141_splice	CHEK1_ENST00000438015.1_Splice_Site_p.R141_splice|CHEK1_ENST00000427383.2_Splice_Site_p.R157_splice|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Splice_Site_p.R141_splice|CHEK1_ENST00000524737.1_Splice_Site_p.R141_splice|CHEK1_ENST00000428830.2_Splice_Site_p.R141_splice|CHEK1_ENST00000544373.1_Splice_Site_p.R141_splice	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	141	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R141S(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGGATGAAAGGGGTAAGTTTA	0.294000								Other conserved DNA damage response genes					38	50					2.54651e-27	4.35327e-27	0.006999	1	0
MAMDC4	158056	broad.mit.edu	37	9	139749013	139749013	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:139749013T>A	ENST00000445819.1	+	8	869	c.819T>A	c.(817-819)ttT>ttA	p.F273L	MAMDC4_ENST00000317446.2_Missense_Mutation_p.F273L|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	273	MAM 2.				protein transport	integral to membrane		p.F273L(2)		breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCACCGACTTTGAGACAGGCC	0.701000													10	6					0	0	0.001368	0	0
CEP97	79598	broad.mit.edu	37	3	101446312	101446312	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:101446312G>A	ENST00000341893.3	+	3	1024	c.272G>A	c.(271-273)aGc>aAc	p.S91N	CEP97_ENST00000327230.4_Missense_Mutation_p.S91N|CEP97_ENST00000494050.1_Missense_Mutation_p.S91N			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	91						centrosome|nucleus	protein binding	p.S91N(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						CCTCATAATAGCATTGGCTGT	0.398000													17	166					0	0	0.006122	0	0
ADRA1D	146	broad.mit.edu	37	20	4202311	4202311	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:4202311C>G	ENST00000379453.4	-	2	1694	c.1578G>C	c.(1576-1578)gcG>gcC	p.A526A		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	526				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.A526A(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CTGCGCGCTGCGCGCCCCCGG	0.726000													8	32					0	0	0.001368	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966056	88966056	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:88966056A>G	ENST00000333190.4	+	4	4369	c.3760A>G	c.(3760-3762)Acc>Gcc	p.T1254A		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1254						intracellular	zinc ion binding	p.T1254A(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCTGACTCCAACCATTATCCC	0.478000										HNSCC(36;0.09)			8	211					0	0	0.001368	0	0
MEIS3	56917	broad.mit.edu	37	19	47920559	47920559	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:47920559G>T	ENST00000331559.5	-	2	502	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	MEIS3_ENST00000441740.2_Missense_Mutation_p.L21M|MEIS3_ENST00000558555.1_Missense_Mutation_p.L21M|MEIS3_ENST00000561293.1_Missense_Mutation_p.L21M|MEIS3_ENST00000559524.1_Missense_Mutation_p.L21M|MEIS3_ENST00000561096.1_Missense_Mutation_p.L109M	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	21						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L21M(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		AAGCTAGCCAGGGCTGCGGGG	0.687000													12	77					6.94344e-10	9.57682e-10	0.006122	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68042641	68042641	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:68042641G>A	ENST00000329153.5	+	16	2403	c.2271G>A	c.(2269-2271)ttG>ttA	p.L757L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	757	PH 2.					cytoskeleton	binding	p.L757L(1)|p.L796L(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCAGACGGTTGCTTTCCTCCC	0.592000													4	36					0	0	0.009096	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826240	43826240	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:43826240G>T	ENST00000389420.3	-	21	2962	c.2963C>A	c.(2962-2964)tCt>tAt	p.S988Y	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S988Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S142Y	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	988	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding	p.S988Y(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGATTCTCGAGACCTTTCCCC	0.373000													12	78					2.27111e-07	2.84916e-07	0.001368	1	0
HSP90AB1	3326	broad.mit.edu	37	6	44221076	44221076	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:44221076C>T	ENST00000371554.1	+	11	2240	c.2026C>T	c.(2026-2028)Cac>Tac	p.H676Y	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.H676Y|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.H676Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	676					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.H676Y(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCCCAGACCCACTCCAACCG	0.502000													75	466					0	0	0.003610	0	0
DST	667	broad.mit.edu	37	6	56468159	56468159	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:56468159T>C	ENST00000370754.5	-	41	10901	c.10902A>G	c.(10900-10902)gcA>gcG	p.A3634A	DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Silent_p.A3456A|DST_ENST00000370769.4_Silent_p.A3456A|DST_ENST00000446842.2_Silent_p.A3130A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.A3456A			Q03001	DYST_HUMAN	dystonin	3456					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAACTCTTCTGCCAACTTCA	0.388000													6	28					0	0	0.001168	0	0
LTBP1	4052	broad.mit.edu	37	2	33359868	33359868	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:33359868C>A	ENST00000404816.2	+	5	1395	c.1042C>A	c.(1042-1044)Cac>Aac	p.H348N	LTBP1_ENST00000390003.4_Missense_Mutation_p.H22N|LTBP1_ENST00000354476.3_Missense_Mutation_p.H348N|LTBP1_ENST00000407925.1_Missense_Mutation_p.H22N|LTBP1_ENST00000418533.2_Missense_Mutation_p.H22N|LTBP1_ENST00000402934.1_Missense_Mutation_p.H22N|LTBP1_ENST00000404525.1_Missense_Mutation_p.H22N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	348					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)				AGTGAGTAACCACACTGGCCG	0.473000													14	84					1.5739e-10	2.2213e-10	0.004007	1	0
SEMA6D	80031	broad.mit.edu	37	15	48057206	48057206	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48057206G>T	ENST00000316364.5	+	13	1819	c.1380G>T	c.(1378-1380)ttG>ttT	p.L460F	SEMA6D_ENST00000536845.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.L460F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	460	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.L460F(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTTTCTCTTTGAACGACAGCG	0.453000													5	103					2.7689e-08	3.62834e-08	0.001984	1	0
PNLIP	5406	broad.mit.edu	37	10	118318690	118318690	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118318690G>A	ENST00000369221.2	+	10	983	c.955G>A	c.(955-957)Gga>Aga	p.G319R		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	319					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	p.G319R(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGTCCAAGTGGAGGCTGCCC	0.413000													13	56					0	0	0.006122	0	0
SGCZ	137868	broad.mit.edu	37	8	14181710	14181710	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:14181710C>A	ENST00000382080.1	-	3	953	c.238G>T	c.(238-240)Ggt>Tgt	p.G80C	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	67					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G80F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTTCCCATACCATCCTACAAG	0.363000													6	84					0.00116845	0.00129221	0.001168	1	0
HECTD4	283450	broad.mit.edu	37	12	112665893	112665893	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:112665893C>A	ENST00000550722.1	-	43	6811	c.6416_splice	c.e43+1	p.R2139_splice	HECTD4_ENST00000377560.5_Splice_Site_p.R2113_splice|HECTD4_ENST00000430131.2_Splice_Site_p.R1863_splice	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4									p.R1863I(1)|p.R2113I(1)									GGGTACTCACCTTGTCCTTAT	0.532000													44	88					1.51926e-22	2.50884e-22	0.003610	1	0
LRP1B	53353	broad.mit.edu	37	2	141528458	141528458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:141528458G>T	ENST00000389484.3	-	34	6589	c.5618C>A	c.(5617-5619)tCa>tAa	p.S1873*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1873	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S1873*(1)		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)		ACCTTGACATGACATACGGTT	0.373000										TSP Lung(27;0.18)			36	95					6.53348e-20	1.04171e-19	0.003755	1	0
UPP1	7378	broad.mit.edu	37	7	48142902	48142902	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:48142902G>T	ENST00000331803.4	+	7	953	c.330G>T	c.(328-330)atG>atT	p.M110I	UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.M110I|UPP1_ENST00000395564.4_Missense_Mutation_p.M110I|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	110					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.M110I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCATGGTATGGGCATTCCTT	0.453000													11	71					5.50884e-06	6.63658e-06	0.001368	1	0
SLC18A2	6571	broad.mit.edu	37	10	119027241	119027241	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:119027241G>C	ENST00000298472.5	+	13	1323	c.1180G>C	c.(1180-1182)Gca>Cca	p.A394P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	394					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.A394P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AGTTGGTTTTGCAATTGGTAA	0.383000													3	44					0	0	0.000602	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144113	11144113	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:11144113G>A	ENST00000358026.2	+	26	3978	c.3694G>A	c.(3694-3696)Ggc>Agc	p.G1232S	SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1232	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.G1232S(5)|p.G1232C(1)|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)				GATCCAGGCCGGCATGTTCGA	0.637000			"""F, N, Mis"""		NSCLC								16	77					0	0	0.004990	0	0
CSMD1	64478	broad.mit.edu	37	8	3253859	3253859	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:3253859C>A	ENST00000520002.1	-	18	3008	c.2453G>T	c.(2452-2454)gGg>gTg	p.G818V	CSMD1_ENST00000602723.1_Missense_Mutation_p.G818V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G817V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G817V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G818V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G817V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G818V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	818	CUB 5.					integral to membrane		p.G817V(1)|p.G546V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTGGCTGGCCCATCTCTGAC	0.522000													4	18					0.00024832	0.000282671	0.009096	1	0
LHX4	89884	broad.mit.edu	37	1	180243566	180243566	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:180243566C>G	ENST00000263726.2	+	6	1269	c.1025C>G	c.(1024-1026)gCg>gGg	p.A342G	RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA	NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	342						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A342G(1)		endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GGCATCATTGCGCATGCAGGG	0.572000													87	447					0	0	0.003610	0	0
SYN3	8224	broad.mit.edu	37	22	33260911	33260911	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:33260911A>G	ENST00000358763.2	-	6	944	c.702T>C	c.(700-702)caT>caC	p.H234H	SYN3_ENST00000332840.5_Silent_p.H234H	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	234	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.H234H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCATTGGCTTATGGTTGGGGA	0.463000													50	224					0	0	0.003610	0	0
BRDT	676	broad.mit.edu	37	1	92441976	92441976	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:92441976G>T	ENST00000370389.2	+	5	1304	c.380G>T	c.(379-381)aGt>aTt	p.S127I	BRDT_ENST00000402388.1_Missense_Mutation_p.S200I|BRDT_ENST00000399546.2_Missense_Mutation_p.S200I|BRDT_ENST00000362005.3_Missense_Mutation_p.S200I|BRDT_ENST00000394530.3_Missense_Mutation_p.S154I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.S200I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCAACTCCAGTTCACAAACT	0.358000													14	64					2.31682e-05	2.73678e-05	0.003163	1	0
TP53	7157	broad.mit.edu	37	17	7577095	7577095	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7577095G>T	ENST00000420246.2	-	8	975	c.843C>A	c.(841-843)gaC>gaA	p.D281E	TP53_ENST00000445888.2_Missense_Mutation_p.D281E|TP53_ENST00000269305.4_Missense_Mutation_p.D281E|TP53_ENST00000455263.2_Missense_Mutation_p.D281E|TP53_ENST00000359597.4_Missense_Mutation_p.D281E|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		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.D281E(28)|p.R282W(10)|p.0?(8)|p.D281D(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CTGTGCGCCGGTCTCTCCCAG	0.557000		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)			19	48					1.33834e-09	1.82774e-09	0.007413	1	0
UNC5D	137970	broad.mit.edu	37	8	35583678	35583678	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:35583678C>T	ENST00000287272.2	+	9	1125	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	UNC5D_ENST00000404895.2_Silent_p.L438L|UNC5D_ENST00000449677.1_Silent_p.L14L|UNC5D_ENST00000420357.1_Silent_p.L371L|UNC5D_ENST00000453357.2_Silent_p.L433L|UNC5D_ENST00000416672.1_Silent_p.L443L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	438					apoptosis|axon guidance	integral to membrane	receptor activity	p.L433L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGGTAACTCCCTGCTCCTGAA	0.507000													21	99					0	0	0.002780	0	0
SALL1	6299	broad.mit.edu	37	16	51174718	51174718	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:51174718G>T	ENST00000440970.1	-	2	1555	c.1124C>A	c.(1123-1125)aCc>aAc	p.T375N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T472N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	472	Poly-Ser.				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T472N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTCTCTCCGGTATGGGAACG	0.502000													24	97					3.01185e-09	4.05056e-09	0.003954	1	0
REG3G	130120	broad.mit.edu	37	2	79254299	79254299	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:79254299T>A	ENST00000272324.5	+	4	517		c.e4+2		REG3G_ENST00000393897.2_Splice_Site|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma						acute-phase response	extracellular region	sugar binding	p.?(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCACACAGGTGCGAGTATAT	0.557000													10	98					0	0	0.004007	0	0
SPACA1	81833	broad.mit.edu	37	6	88773939	88773939	+	Splice_Site	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:88773939T>A	ENST00000237201.1	+	6	848		c.e6+2		SPACA1_ENST00000462690.1_Intron	NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1							integral to membrane		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CATAAATTGGTAGGTGAATAG	0.413000													11	101					0	0	0.001855	0	0
NPY2R	4887	broad.mit.edu	37	4	156135336	156135336	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:156135336G>C	ENST00000329476.3	+	2	734	c.245G>C	c.(244-246)cGc>cCc	p.R82P	NPY2R_ENST00000506608.1_Missense_Mutation_p.R82P	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	82					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.R82P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AAGAGCATGCGCACAGTAACC	0.453000													6	53					0	0	0.001168	0	0
SLIT2	9353	broad.mit.edu	37	4	20619258	20619258	+	Missense_Mutation	SNP	G	G	C	rs141897818	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:20619258G>C	ENST00000504154.1	+	36	4585	c.4333G>C	c.(4333-4335)Gac>Cac	p.D1445H	SLIT2_ENST00000503837.1_Missense_Mutation_p.D1441H|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1458H|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1437H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1445					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1445H(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATACACGGGGGACAGCTGTGA	0.537000													6	28					0	0	0.004482	0	0
SLK	9748	broad.mit.edu	37	10	105763286	105763286	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:105763286G>A	ENST00000369755.3	+	9	2894		c.e9+1		SLK_ENST00000335753.4_Splice_Site	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase						apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.?(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		ATCTTTACAAGTAAGTGTACA	0.333000													14	123					0	0	0.003163	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657101	40657101	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:40657101G>A	ENST00000406785.1	-	2	509	c.320C>T	c.(319-321)aCa>aTa	p.T107I	SLC8A1_ENST00000332839.4_Missense_Mutation_p.T107I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T107I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T107I			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	107					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	p.T107I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTGAGATGTGATGACTTC	0.398000													31	187					0	0	0.008361	0	0
PLAGL2	5326	broad.mit.edu	37	20	30784356	30784356	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:30784356C>G	ENST00000246229.4	-	3	1654	c.1390G>C	c.(1390-1392)Ggg>Cgg	p.G464R		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	464						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G464R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGGTCCCCCAGCTCCTGGG	0.597000													10	100					0	0	0.008291	0	0
TTN	7273	broad.mit.edu	37	2	179468621	179468621	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179468621C>A	ENST00000589042.1	-	282	55017	c.54793G>T	c.(54793-54795)Gtt>Ttt	p.V18265F	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9392F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9200F|TTN_ENST00000342992.6_Missense_Mutation_p.V15697F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16624F|TTN_ENST00000359218.5_Missense_Mutation_p.V9325F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16624	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V15697F(2)|p.V9200F(1)|p.V9325F(1)|p.V9392F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCCTGCAACCTCTGGATCT	0.408000													27	88					9.90768e-06	1.18477e-05	0.004656	1	0
LRMP	4033	broad.mit.edu	37	12	25243005	25243005	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:25243005A>T	ENST00000354454.3	+	13	1309	c.480A>T	c.(478-480)agA>agT	p.R160S	LRMP_ENST00000548766.1_Missense_Mutation_p.R160S|LRMP_ENST00000547044.1_Missense_Mutation_p.R160S	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	216					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		p.R160S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AATTTCTCAGATTATCTTTGG	0.393000													27	182					0	0	0.002836	0	0
SYT5	6861	broad.mit.edu	37	19	55687098	55687098	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55687098A>T	ENST00000354308.3	-	5	888	c.519T>A	c.(517-519)ttT>ttA	p.F173L	SYT5_ENST00000537500.1_Missense_Mutation_p.F173L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.F170L	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	173	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F173L(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGTCTCCCCAAAGTGAGGGT	0.622000													15	110					0	0	0.003163	0	0
RNASE11	122651	broad.mit.edu	37	14	21052309	21052309	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:21052309C>G	ENST00000335950.4	-	3	787	c.325G>C	c.(325-327)Gaa>Caa	p.E109Q	RNASE11_ENST00000432835.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000555841.1_Missense_Mutation_p.E109Q|RNASE11_ENST00000398009.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000398008.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000553849.1_Missense_Mutation_p.E109Q	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	109						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.E109Q(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		CCGTTTGCTTCTGAAACTTTT	0.468000													24	149					0	0	0.002780	0	0
SYPL2	284612	broad.mit.edu	37	1	110018245	110018245	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:110018245G>T	ENST00000369872.3	+	3	388	c.172G>T	c.(172-174)Ggg>Tgg	p.G58W	SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.G58W	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	58	MARVEL.					integral to membrane|synaptic vesicle	transporter activity	p.G58W(1)		breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCCTACAGCGGGGAGACAGG	0.527000													5	34					0.00116845	0.00129221	0.001168	1	0
ADCY5	111	broad.mit.edu	37	3	123066664	123066664	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:123066664G>C	ENST00000462833.1	-	3	2583	c.1371C>G	c.(1369-1371)ttC>ttG	p.F457L	ADCY5_ENST00000491190.1_Missense_Mutation_p.F90L|ADCY5_ENST00000309879.5_Missense_Mutation_p.F107L	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	457					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.F457L(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAATCTTATGGAACATCATAT	0.547000													36	265					0	0	0.004878	0	0
GPRC6A	222545	broad.mit.edu	37	6	117114013	117114013	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:117114013A>T	ENST00000310357.3	-	6	2094	c.2073T>A	c.(2071-2073)gaT>gaA	p.D691E	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D620E|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D516E	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	691					response to amino acid stimulus		G-protein coupled receptor activity	p.D691E(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTAATTTGGGATCAAAGCTGA	0.418000													22	66					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179659835	179659835	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179659835G>A	ENST00000589042.1	-	7	1283	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	TTN_ENST00000342175.6_Silent_p.S353S|TTN_ENST00000460472.2_Silent_p.S353S|TTN_ENST00000342992.6_Silent_p.S353S|TTN_ENST00000591111.1_Silent_p.S353S|TTN_ENST00000359218.5_Silent_p.S353S|TTN_ENST00000360870.5_Silent_p.S353S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	353							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S353S(6)		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)			CCTCAGATGAGGAGGCCACGT	0.552000													11	87					0	0	0.001368	0	0
HMOX1	3162	broad.mit.edu	37	22	35779116	35779116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:35779116C>A	ENST00000216117.8	+	2	380	c.41C>A	c.(40-42)tCa>tAa	p.S14*		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	14					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity	p.S14*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CAGGATTTGTCAGAGGCCCTG	0.592000													11	68					0.00010058	0.000116266	0.001368	1	0
DAP3	7818	broad.mit.edu	37	1	155701746	155701746	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155701746C>G	ENST00000368336.5	+	11	1039	c.915C>G	c.(913-915)gcC>gcG	p.A305A	DAP3_ENST00000421487.2_Silent_p.A271A|DAP3_ENST00000535183.1_Silent_p.A264A|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.A305A|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	305					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	p.A305A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATGGAGGCGCCATTGTGTCGG	0.423000													6	25					0	0	0.001168	0	0
PLCL1	5334	broad.mit.edu	37	2	198949581	198949581	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:198949581G>T	ENST00000428675.1	+	2	1738	c.1340G>T	c.(1339-1341)aGt>aTt	p.S447I	PLCL1_ENST00000437704.2_Missense_Mutation_p.S349I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	447	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S349I(1)|p.S447I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTCGATGTAAGTGATGGTTCA	0.393000													4	79					0.00909568	0.00965236	0.009096	1	0
TMEM230	29058	broad.mit.edu	37	20	5081562	5081562	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:5081562C>A	ENST00000379286.2	-	5	658	c.238G>T	c.(238-240)Gtt>Ttt	p.V80F	TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Missense_Mutation_p.V80F|TMEM230_ENST00000379283.2_Missense_Mutation_p.V80F|TMEM230_ENST00000379279.2_Missense_Mutation_p.V80F|TMEM230_ENST00000379277.2_Missense_Mutation_p.V80F|TMEM230_ENST00000342308.5_Missense_Mutation_p.V143F	NM_001009924.1	NP_001009924.1	Q96A57	CT030_HUMAN	transmembrane protein 230	80						integral to membrane		p.V80F(1)|p.V143F(1)									AGCACTGGAACGGCCCGGTCT	0.478000											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	41					2.44723e-14	3.68413e-14	0.004656	1	0
ZDBF2	57683	broad.mit.edu	37	2	207173670	207173670	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:207173670A>T	ENST00000374423.3	+	5	4804	c.4418A>T	c.(4417-4419)tAc>tTc	p.Y1473F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1473							nucleic acid binding|zinc ion binding	p.Y1473F(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAGTGTCTTACAAAGAGGCA	0.373000													6	52					0	0	0.001984	0	0
SCG2	7857	broad.mit.edu	37	2	224462854	224462854	+	Missense_Mutation	SNP	G	G	A	rs149957287		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:224462854G>A	ENST00000305409.2	-	2	1379	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	383					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.R383W(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAAGCTCCCGCTCCGGTTCC	0.483000													35	105					0	0	0.005524	0	0
LHX8	431707	broad.mit.edu	37	1	75608902	75608902	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:75608902C>A	ENST00000294638.5	+	6	1153	c.489C>A	c.(487-489)gcC>gcA	p.A163A	LHX8_ENST00000356261.3_Silent_p.A153A	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	163	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A163A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CATGCTTTGCCTGCTTTTCCT	0.488000													21	83					4.26978e-12	6.20652e-12	0.003330	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47075138	47075138	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:47075138G>A	ENST00000290341.3	+	1	365	c.31G>A	c.(31-33)Gag>Aag	p.E11K	IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E11K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	11	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.E11K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAACCTCAACGAGAGCGTGAC	0.637000													39	98					0	0	0.006230	0	0
OR2G2	81470	broad.mit.edu	37	1	247752598	247752598	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247752598G>C	ENST00000320065.1	+	1	937	c.937G>C	c.(937-939)Gga>Cga	p.G313R	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G313R(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AAAGGCTCTGGGAGtaaatat	0.318000													33	118					0	0	0.008740	0	0
MUT	4594	broad.mit.edu	37	6	49403211	49403211	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:49403211C>T	ENST00000274813.3	-	12	2209	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	694	B12-binding.		R -> W (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	p.R694R(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATCTGGCCGTCCAAGGG	0.448000													4	56					0	0	0.009096	0	0
OR7A10	390892	broad.mit.edu	37	19	14952213	14952213	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:14952213T>C	ENST00000248058.1	-	1	476	c.477A>G	c.(475-477)caA>caG	p.Q159Q		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q159Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCATTAAGCTTTGTAACATGG	0.453000													47	67					0	0	0.003610	0	0
ATP10D	57205	broad.mit.edu	37	4	47570994	47570994	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:47570994T>A	ENST00000273859.3	+	16	3263	c.2994T>A	c.(2992-2994)atT>atA	p.I998I		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	998					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.I998I(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGGACTCATTATCACTGGGA	0.512000													26	126					0	0	0.005443	0	0
CPS1	1373	broad.mit.edu	37	2	211504752	211504752	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:211504752G>A	ENST00000233072.5	+	24	3124	c.2928G>A	c.(2926-2928)atG>atA	p.M976I	CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.M982I|CPS1_ENST00000451903.2_Missense_Mutation_p.M525I	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	976					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.M976I(1)|p.M982I(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ACCATGGAATGATGGTGCTAG	0.294000													10	101					0	0	0.002450	0	0
SLC2A3	6515	broad.mit.edu	37	12	8085705	8085705	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:8085705C>A	ENST00000075120.7	-	3	387	c.147G>T	c.(145-147)aaG>aaT	p.K49N		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	49					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.K49N(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCATTTCCCTTGTCCGTCA	0.463000											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	62					1.7881e-09	2.43172e-09	0.008361	1	0
GNA13	10672	broad.mit.edu	37	17	63049634	63049634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:63049634G>A	ENST00000439174.2	-	2	741	c.496C>T	c.(496-498)Cga>Tga	p.R166*	GNA13_ENST00000541118.1_Nonsense_Mutation_p.R71*	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	166					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.R166*(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TGAAATTCTCGACGCCGGTCA	0.403000													21	95					0	0	0.010504	0	0
DNAH8	1769	broad.mit.edu	37	6	38775449	38775449	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:38775449C>T	ENST00000359357.3	+	22	2817	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W					dynein, axonemal, heavy chain 8									p.R855W(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAAGCTACACGGTTATCTCT	0.328000													20	108					0	0	0.010504	0	0
PRPF8	10594	broad.mit.edu	37	17	1557163	1557163	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:1557163G>A	ENST00000572621.1	-	37	6400	c.6135C>T	c.(6133-6135)cgC>cgT	p.R2045R	PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.R2045R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2045						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.R2045R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTTGACAGTGCGAGTCTGTG	0.547000													70	197					0	0	0.003610	0	0
KCNA1	3736	broad.mit.edu	37	12	5020837	5020837	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:5020837C>T	ENST00000382545.3	+	2	1400	c.293C>T	c.(292-294)tCc>tTc	p.S98F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	98					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.S98F(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTACCAGTCCGGCGGCCGC	0.602000													6	29					0	0	0.001368	0	0
OR56A3	390083	broad.mit.edu	37	11	5968750	5968750	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5968750T>A	ENST00000329564.6	+	1	181	c.174T>A	c.(172-174)tcT>tcA	p.S58S		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S58S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGGCCTCTCTGCACCAGC	0.617000													5	138					0	0	0.001168	0	0
TBR1	10716	broad.mit.edu	37	2	162274732	162274732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:162274732C>A	ENST00000389554.3	+	3	1185	c.868C>A	c.(868-870)Ccg>Acg	p.P290T	TBR1_ENST00000410035.1_Missense_Mutation_p.P3T	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	290						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.P290S(1)|p.P290T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CTATATGCATCCGGATTCCCC	0.463000													17	63					2.94398e-08	3.84739e-08	0.007413	1	0
TCTE1	202500	broad.mit.edu	37	6	44255481	44255481	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:44255481C>A	ENST00000371505.4	-	2	204	c.82G>T	c.(82-84)Gga>Tga	p.G28*	TCTE1_ENST00000371503.3_De_novo_Start_OutOfFrame|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	28								p.G28*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GAAGTGTGTCCTCCAGTGGAG	0.552000													13	70					7.03913e-09	9.37585e-09	0.001368	1	0
CPT1C	126129	broad.mit.edu	37	19	50214055	50214055	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:50214055C>T	ENST00000392518.4	+	16	2179	c.1807C>T	c.(1807-1809)Cgg>Tgg	p.R603W	CPT1C_ENST00000598293.1_Missense_Mutation_p.R603W|CPT1C_ENST00000405931.2_Missense_Mutation_p.R592W|CPT1C_ENST00000323446.5_Missense_Mutation_p.R603W|CPT1C_ENST00000354199.5_Missense_Mutation_p.R603W	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	603					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R603W(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGAGACGGTGCGGTCTTGCAC	0.577000													4	68					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130409258	130409258	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:130409258A>C	ENST00000370904.1	-	23	4070	c.3160T>G	c.(3160-3162)Tta>Gta	p.L1054V	IGSF1_ENST00000370910.1_Missense_Mutation_p.L1054V|IGSF1_ENST00000361420.3_Missense_Mutation_p.L1063V|IGSF1_ENST00000370903.3_Missense_Mutation_p.L1068V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1063	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	p.L1063V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TTGGGGAGTAAGCCTGGAAGA	0.517000													7	150					0	0	0.003080	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648512	74648512	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:74648512C>G	ENST00000354431.4	-	3	474	c.283G>C	c.(283-285)Gga>Cga	p.G95R	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.G95R|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95R|LRRIQ3_ENST00000370909.2_Intron	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	95								p.G95R(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTCTTCAATCCATTCCAAAAT	0.308000													6	28					0	0	0.001168	0	0
VPS13B	157680	broad.mit.edu	37	8	100832227	100832227	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:100832227G>T	ENST00000358544.2	+	49	9057	c.8946G>T	c.(8944-8946)ttG>ttT	p.L2982F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2957F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2982					protein transport			p.L2957F(1)|p.L2982F(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GAACTTTGTTGATAGAACTTC	0.443000													19	153					2.39187e-15	3.66326e-15	0.008871	1	0
WIPI2	26100	broad.mit.edu	37	7	5239290	5239290	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:5239290G>A	ENST00000288828.4	+	3	443		c.e3+1		WIPI2_ENST00000401525.3_Splice_Site|WIPI2_ENST00000485854.1_Splice_Site|WIPI2_ENST00000404704.3_Splice_Site|WIPI2_ENST00000382384.2_Splice_Site	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2						autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding	p.?(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TATGAATGCAGTAAGTGTTTG	0.363000													5	174					0	0	0.001168	0	0
FCRL5	83416	broad.mit.edu	37	1	157485512	157485512	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:157485512G>T	ENST00000361835.3	-	17	3044	c.2887C>A	c.(2887-2889)Ccg>Acg	p.P963T	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.P963T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	963						integral to membrane|plasma membrane	receptor activity	p.P963K(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCGGAAACCGGGGTTGACGCC	0.587000													39	511					1.39843e-22	2.31324e-22	0.003610	1	0
OR2A5	393046	broad.mit.edu	37	7	143747932	143747932	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:143747932C>T	ENST00000408906.2	+	1	472	c.438C>T	c.(436-438)gtC>gtT	p.V146V		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V146V(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCCTGGCTGTCACTTCTTGGG	0.522000													13	307					0	0	0.001855	0	0
SIN3B	23309	broad.mit.edu	37	19	16973310	16973310	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16973310G>T	ENST00000379803.1	+	9	1220	c.1206G>T	c.(1204-1206)cgG>cgT	p.R402R	SIN3B_ENST00000248054.5_Silent_p.R402R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	402	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding	p.R402R(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGCTACCGGGCACTCCCCA	0.582000													9	29					0.000442599	0.000499726	0.006214	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996176	140996176	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:140996176C>A	ENST00000285879.4	+	4	3272	c.2986C>A	c.(2986-2988)Cag>Aag	p.Q996K	MAGEC1_ENST00000406005.2_Missense_Mutation_p.Q63K	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	996	MAGE.						protein binding	p.Q996K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCATGTCCCAGAACCGCCT	0.502000										HNSCC(15;0.026)			48	109					2.64894e-19	4.19596e-19	0.003610	1	0
MYH3	4621	broad.mit.edu	37	17	10558331	10558331	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10558331G>A	ENST00000583535.1	-	3	138	c.51C>T	c.(49-51)ctC>ctT	p.L17L	MYH3_ENST00000226209.7_Silent_p.L17L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	17	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.L17L(1)		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						CTGACTTCCGGAGGAAAGGAG	0.537000													17	193					0	0	0.008871	0	0
FAM188A	80013	broad.mit.edu	37	10	15821093	15821093	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:15821093G>A	ENST00000378036.1	-	6	1527	c.351C>T	c.(349-351)ccC>ccT	p.P117P	FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Silent_p.P412P			Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	412					apoptosis	nucleus	calcium ion binding	p.P412P(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TCTGTAGCATGGGATCTTCAA	0.428000													14	40					0	0	0.002450	0	0
NCOR2	9612	broad.mit.edu	37	12	124862883	124862883	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:124862883C>A	ENST00000356219.3	-	19	2222	c.2067G>T	c.(2065-2067)gcG>gcT	p.A689A	NCOR2_ENST00000397355.1_Silent_p.A689A|NCOR2_ENST00000404621.1_Silent_p.A688A|NCOR2_ENST00000405201.1_Silent_p.A689A|NCOR2_ENST00000404121.2_Silent_p.A259A|NCOR2_ENST00000429285.2_Silent_p.A688A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	689					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.A689A(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTCGCTGGCCGCCGCCGGCG	0.657000													7	30					0.00621372	0.00663753	0.006214	1	0
ZNF33A	7581	broad.mit.edu	37	10	38343873	38343873	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:38343873A>G	ENST00000374618.3	+	5	999	c.821A>G	c.(820-822)cAc>cGc	p.H274R	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H273R|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H273R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H280R	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	273						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H273R(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGGACAATCACTATGAATTT	0.388000													32	71					0	0	0.002445	0	0
MARCH1	55016	broad.mit.edu	37	4	164534642	164534642	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:164534642G>T	ENST00000339875.5	-	1	44	c.15C>A	c.(13-15)caC>caA	p.H5Q	MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	0	Responsible for low stability (By similarity).				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H5Q(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TACAACAAACGTGGCTGCTGG	0.348000													17	31					3.32936e-07	4.16599e-07	0.006122	1	0
ABCA13	154664	broad.mit.edu	37	7	48390351	48390351	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:48390351T>A	ENST00000435803.1	+	30	10340	c.10316T>A	c.(10315-10317)cTg>cAg	p.L3439Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3439					transport	integral to membrane	ATP binding|ATPase activity	p.L3439Q(1)|p.L3384Q(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCCAGGCTCTGCAGTCTGTC	0.488000													22	93					0	0	0.002299	0	0
COL4A4	1286	broad.mit.edu	37	2	227983373	227983373	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:227983373T>A	ENST00000396625.3	-	7	684	c.477A>T	c.(475-477)ccA>ccT	p.P159P	COL4A4_ENST00000329662.7_Silent_p.P159P	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	159	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P159P(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GGGGGCCTCCTGGGCCAAGAG	0.532000													8	136					0	0	0.003080	0	0
POLR3B	55703	broad.mit.edu	37	12	106890686	106890686	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:106890686G>A	ENST00000228347.4	+	25	3196	c.2974G>A	c.(2974-2976)Ggc>Agc	p.G992S	POLR3B_ENST00000539066.1_Missense_Mutation_p.G934S|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	992					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.G992S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TGTTACATCCGGCATCACAGG	0.428000													21	153					0	0	0.001882	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353679	45353679	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:45353679G>T	ENST00000359271.2	+	2	254		c.e2-1			NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10							endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.?(1)		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)				TTGTTTTTTAGGCCACTCCCC	0.493000													14	136					0.00185496	0.00204445	0.001855	1	0
CROCC	9696	broad.mit.edu	37	1	17279852	17279852	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:17279852A>G	ENST00000375541.5	+	21	3131	c.3062A>G	c.(3061-3063)cAg>cGg	p.Q1021R	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1021					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.Q1021R(1)		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)		AGTCAGCTGCAGCGTGAGCAG	0.692000													4	5					0	0	0.000978	0	0
CNKSR1	10256	broad.mit.edu	37	1	26509068	26509068	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:26509068G>T	ENST00000361530.6	+	6	762	c.617G>T	c.(616-618)aGt>aTt	p.S206I	CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S206I|CNKSR1_ENST00000480348.2_3'UTR			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	206	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	p.S206I(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGGACAGTCCATTGGTG	0.617000													13	25					6.31663e-08	8.13454e-08	0.003163	1	0
KDELC2	143888	broad.mit.edu	37	11	108352829	108352829	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:108352829T>C	ENST00000434945.2	-	3	939	c.637A>G	c.(637-639)Aga>Gga	p.R213G	KDELC2_ENST00000375648.1_Missense_Mutation_p.R213G|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.R269G			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	269						endoplasmic reticulum lumen		p.R269G(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ACAACATCTCTTGAATCCAGA	0.448000													11	196					0	0	0.001368	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521019	33521019	+	Missense_Mutation	SNP	C	C	A	rs148354465		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:33521019C>A	ENST00000297307.5	-	1	393	c.308G>T	c.(307-309)cGg>cTg	p.R103L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	103	DUF6 1.					integral to membrane		p.R103L(1)									GAAGAAGGCCCGGCTTCGGAT	0.592000													35	204					1.36615e-20	2.19988e-20	0.002836	1	0
CHD9	80205	broad.mit.edu	37	16	53338272	53338272	+	Silent	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:53338272T>G	ENST00000566029.1	+	31	6563	c.6354T>G	c.(6352-6354)tcT>tcG	p.S2118S	CHD9_ENST00000564845.1_Silent_p.S2118S|CHD9_ENST00000447540.1_Silent_p.S2118S|CHD9_ENST00000398510.3_Silent_p.S2118S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2118					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.S2118S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ACCCAGCTTCTAAGAAACCAA	0.448000													5	20					0	0	0.000602	0	0
RASSF2	9770	broad.mit.edu	37	20	4770302	4770302	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:4770302G>T	ENST00000379400.3	-	8	774	c.579C>A	c.(577-579)gtC>gtA	p.V193V	RASSF2_ENST00000379376.2_Silent_p.V193V|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	193	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.V193V(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGTTGATGCGGACGTTGGTGA	0.542000													15	49					6.31663e-08	8.13454e-08	0.003163	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33891834	33891834	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:33891834C>A	ENST00000504830.1	-	1	463		c.e1+1		ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000515401.1_Splice_Site	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.?(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GAGTCACTAACCTTGCCTCCT	0.532000										HNSCC(64;0.19)			6	210					3.59834e-05	4.2147e-05	0.001168	1	0
ADAM7	8756	broad.mit.edu	37	8	24324541	24324541	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:24324541C>T	ENST00000441335.2	+	6	798	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	ADAM7_ENST00000380789.1_Intron|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA			Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	0	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AATGAAACACCTTTTATTTTC	0.323000													27	42					0	0	0.005443	0	0
ANK3	288	broad.mit.edu	37	10	62038579	62038579	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:62038579C>A	ENST00000280772.1	-	4	558	c.367G>T	c.(367-369)Gta>Tta	p.V123L	ANK3_ENST00000503366.1_Missense_Mutation_p.V106L|ANK3_ENST00000373827.2_Missense_Mutation_p.V117L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	123					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.V123L(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGACTTTTACCACCTCTGCT	0.388000													11	139					1.08611e-07	1.37858e-07	0.000978	1	0
USH2A	7399	broad.mit.edu	37	1	216166438	216166438	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:216166438G>A	ENST00000366943.2	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000307340.3_Silent_p.G2243G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9.				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.G2243G(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)		GGGCTGGCACGCCTTCGGGTA	0.507000										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	298					0	0	0.003755	0	0
SLC12A1	6557	broad.mit.edu	37	15	48537080	48537080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:48537080C>A	ENST00000396577.3	+	11	1646	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*	SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.Y477*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.Y477*	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	477					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.Y477*(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CATGTCAGTACGGGCTGATGA	0.383000													17	45					1.02788e-11	1.49189e-11	0.004990	1	0
CCM2	83605	broad.mit.edu	37	7	45108125	45108125	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:45108125G>A	ENST00000475551.1	+	5	1298	c.538G>A	c.(538-540)Gca>Aca	p.A180T	CCM2_ENST00000541586.1_Missense_Mutation_p.A128T|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.A207T|CCM2_ENST00000258781.6_Missense_Mutation_p.A186T			Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2	186	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding	p.A207T(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GTCGGAGAGTGCAGTTGGGCC	0.612000													4	91					0	0	0.000602	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512843	99512843	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:99512843G>A	ENST00000535714.1	-	4	825	c.20C>T	c.(19-21)gCg>gTg	p.A7V	PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A61V|RP11-654A16.3_ENST00000559468.1_RNA	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	61					proteolysis		cysteine-type peptidase activity	p.A61V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CAGAATGATCGCCTTGGCGGC	0.622000													19	98					0	0	0.002299	0	0
ASCC3	10973	broad.mit.edu	37	6	101053528	101053528	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:101053528T>A	ENST00000369162.2	-	33	5437	c.5093A>T	c.(5092-5094)cAa>cTa	p.Q1698L		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1698	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.Q1698L(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCTTTGCCTTGGTCATCGAA	0.373000													8	32					0	0	0.003080	0	0
ABCB4	5244	broad.mit.edu	37	7	87032462	87032462	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87032462C>T	ENST00000265723.4	-	27	3754	c.3643G>A	c.(3643-3645)Gaa>Aaa	p.E1215K	ABCB4_ENST00000358400.3_Missense_Mutation_p.E1161K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1208K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1161K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1208K	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1215	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.E1208K(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTTCACTTTCAGTATCCAGA	0.428000													46	218					0	0	0.003610	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293440	71293440	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:71293440G>A	ENST00000398530.1	-	1	481	c.444C>T	c.(442-444)gtC>gtT	p.V148V	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	148	6 X 4 AA repeats of C-C-X-P.					keratin filament		p.V148V(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCACACGGGGACAcagcagc	0.557000													8	78					0	0	0.001855	0	0
CHRDL1	91851	broad.mit.edu	37	X	109931883	109931883	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:109931883G>A	ENST00000218054.4	-	9	1120	c.924C>T	c.(922-924)tgC>tgT	p.C308C	CHRDL1_ENST00000394797.4_Silent_p.C308C|CHRDL1_ENST00000372045.1_Silent_p.C302C|CHRDL1_ENST00000434224.1_Silent_p.C229C|CHRDL1_ENST00000482160.1_Silent_p.C229C|CHRDL1_ENST00000444321.2_Silent_p.C308C|CHRDL1_ENST00000372042.1_Silent_p.C309C	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	302	VWFC 3.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.C308C(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAGGATACTTGCAGGGGTATC	0.463000													43	135					0	0	0.008740	0	0
VN1R4	317703	broad.mit.edu	37	19	53770147	53770147	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:53770147G>T	ENST00000311170.4	-	1	825	c.772C>A	c.(772-774)Ctt>Att	p.L258I		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	258					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.L258I(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TTATCCAAAAGAGCCATACAA	0.478000										HNSCC(26;0.072)			21	48					2.89027e-11	4.13321e-11	0.002299	1	0
SDK1	221935	broad.mit.edu	37	7	4153888	4153888	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:4153888G>T	ENST00000404826.2	+	25	3944	c.3805G>T	c.(3805-3807)Ggc>Tgc	p.G1269C	SDK1_ENST00000389531.3_Missense_Mutation_p.G1269C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1269	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.G1269C(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGTGGTGCGGGGCCGGACGCG	0.637000													6	18					2.0095e-06	2.46056e-06	0.001984	1	0
PTH1R	5745	broad.mit.edu	37	3	46945140	46945140	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:46945140C>A	ENST00000449590.1	+	16	1979	c.1776C>A	c.(1774-1776)gtC>gtA	p.V592V	PTH1R_ENST00000430002.2_Silent_p.V592V|PTH1R_ENST00000418619.1_Silent_p.V592V|PTH1R_ENST00000313049.5_Silent_p.V592V	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	592						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association	p.V592V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGGAGACAGTCATGTGACCAG	0.612000													22	107					3.6726e-16	5.6515e-16	0.003954	1	0
MAB21L2	10586	broad.mit.edu	37	4	151504393	151504393	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:151504393C>A	ENST00000317605.4	+	1	1317	c.212C>A	c.(211-213)cCc>cAc	p.P71H	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	71					nervous system development	nucleus		p.P71H(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GTCATTTCGCCCACCGAATTT	0.597000													23	34					2.44723e-14	3.68413e-14	0.004656	1	0
EDARADD	128178	broad.mit.edu	37	1	236631557	236631557	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:236631557C>T	ENST00000359362.5	+	5	430	c.216C>T	c.(214-216)agC>agT	p.S72S	EDARADD_ENST00000334232.4_Silent_p.S82S	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	82					cell differentiation|signal transduction	cytoplasm		p.S82S(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCCAGATAGCACTGGAGATC	0.378000													29	114					0	0	0.002096	0	0
PRDM2	7799	broad.mit.edu	37	1	14107413	14107413	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:14107413G>A	ENST00000235372.7	+	8	3979	c.3123G>A	c.(3121-3123)atG>atA	p.M1041I	PRDM2_ENST00000413440.1_Missense_Mutation_p.M840I|PRDM2_ENST00000343137.4_Missense_Mutation_p.M840I|PRDM2_ENST00000311066.5_Missense_Mutation_p.M1041I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1041	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M1041I(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCCCTGATGTCTGCCGCCT	0.562000													11	48					0	0	0.002450	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118383456	118383456	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118383456G>T	ENST00000537242.1	+	0	82				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity	p.?(2)		endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCTCACCCTAGGAAAAGAGTC	0.493000													15	49					2.32078e-09	3.14293e-09	0.003163	1	0
SGCZ	137868	broad.mit.edu	37	8	14181709	14181709	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:14181709C>A	ENST00000382080.1	-	3	954	c.239G>T	c.(238-240)gGt>gTt	p.G80V	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	67					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		p.G80F(1)		NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ATTTCCCATACCATCCTACAA	0.363000													6	84					0.00116845	0.00129221	0.001168	1	0
OR8D2	283160	broad.mit.edu	37	11	124189358	124189358	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:124189358A>G	ENST00000357438.2	-	1	826	c.736T>C	c.(736-738)Ttg>Ctg	p.L246L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L246L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CCCACAGCCAAGAGATGGGAG	0.438000													4	285					0	0	0.009096	0	0
RNASE11	122651	broad.mit.edu	37	14	21052324	21052324	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:21052324A>T	ENST00000335950.4	-	3	772	c.310T>A	c.(310-312)Tgg>Agg	p.W104R	RNASE11_ENST00000432835.2_Missense_Mutation_p.W104R|RNASE11_ENST00000555841.1_Missense_Mutation_p.W104R|RNASE11_ENST00000398009.2_Missense_Mutation_p.W104R|RNASE11_ENST00000398008.2_Missense_Mutation_p.W104R|RNASE11_ENST00000553849.1_Missense_Mutation_p.W104R	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	104						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.W104R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACTTTTCTCCAGACTGTCATG	0.468000													29	177					0	0	0.009535	0	0
CSMD1	64478	broad.mit.edu	37	8	2857502	2857502	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:2857502A>G	ENST00000520002.1	-	54	8739	c.8184T>C	c.(8182-8184)tcT>tcC	p.S2728S	CSMD1_ENST00000602723.1_Silent_p.S2670S|CSMD1_ENST00000537824.1_Silent_p.S2727S|CSMD1_ENST00000602557.1_Silent_p.S2728S|CSMD1_ENST00000542608.1_Silent_p.S2669S|CSMD1_ENST00000400186.3_Silent_p.S2670S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2728	Sushi 18.					integral to membrane		p.S2456S(1)|p.S2727S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGTTTGTCCAGACCACTTGT	0.473000													8	277					0	0	0.006214	0	0
ACCSL	390110	broad.mit.edu	37	11	44074297	44074297	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:44074297C>A	ENST00000378832.1	+	6	914	c.858C>A	c.(856-858)caC>caA	p.H286Q		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	286							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.H286Q(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TTCCTGTCCACCTGGAGAGTG	0.542000													251	253					8.08517e-138	1.41966e-137	0.003610	1	0
TDRD1	56165	broad.mit.edu	37	10	115977387	115977387	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:115977387G>A	ENST00000251864.2	+	17	2449	c.2296G>A	c.(2296-2298)Gga>Aga	p.G766R	TDRD1_ENST00000369282.1_Missense_Mutation_p.G766R|TDRD1_ENST00000422662.1_Missense_Mutation_p.G370R|TDRD1_ENST00000369281.2_Missense_Mutation_p.G709R|TDRD1_ENST00000369280.1_Missense_Mutation_p.G766R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	766	Tudor 3.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.G766R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GGCAGAGATAGGACAACCTTG	0.348000													14	38					0	0	0.003163	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925826	67925826	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67925826C>A	ENST00000304363.4	-	11	2340	c.1987G>T	c.(1987-1989)Gtg>Ttg	p.V663L		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.V663L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTGTAGCTCACAGGCACGCCC	0.493000													7	100					0.00307968	0.00332263	0.003080	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	17					0	0	0.000602	0	0
HDAC4	9759	broad.mit.edu	37	2	239974820	239974820	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:239974820C>A	ENST00000345617.3	-	27	4019	c.3228G>T	c.(3226-3228)gaG>gaT	p.E1076D	HDAC4_ENST00000543185.1_Missense_Mutation_p.E660D	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1076	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.E1076D(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CTTCCATGGGCTCCTCATCTG	0.567000													17	79					1.99824e-07	2.51659e-07	0.004990	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421331	62421331	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:62421331A>T	ENST00000245663.4	-	2	930	c.780T>A	c.(778-780)gcT>gcA	p.A260A	ZBTB46_ENST00000395104.1_Silent_p.A260A|ZBTB46_ENST00000302995.2_Silent_p.A260A	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A260A(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AGGCATCACCAGCACTCTGCT	0.577000													12	114					0	0	0.001368	0	0
PI4KAP1	728233	broad.mit.edu	37	22	20386732	20386732	+	RNA	SNP	G	G	A	rs143107404	by1000genomes	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:20386732G>A	ENST00000430523.3	-	0	1780					NR_003563.1																						GGGCAAGGACGAGTGGTCTGT	0.572000													9	13					0	0	0.004482	0	0
UGT2B28	54490	broad.mit.edu	37	4	70160485	70160485	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:70160485C>T	ENST00000335568.5	+	6	1550	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	516					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGTTTTGTTTCTGGAAGTTTG	0.413000													6	102					0	0	0.003080	0	0
FOXD2	2306	broad.mit.edu	37	1	47904171	47904171	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:47904171C>T	ENST00000334793.5	+	1	2483	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	122					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R122W(1)		lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		cgcggcgACGCGGAGCCCGCT	0.781000													4	19					0	0	0.000602	0	0
COL6A1	1291	broad.mit.edu	37	21	47421898	47421898	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:47421898G>A	ENST00000361866.3	+	31	2094	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.A660A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGTCGTACGCGGGTGTGGTGC	0.652000													3	19					0	0	0.000602	0	0
ACTN2	88	broad.mit.edu	37	1	236912564	236912564	+	Splice_Site	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:236912564G>A	ENST00000366578.4	+	14	1822	c.1656_splice	c.e14+1	p.Q552_splice	ACTN2_ENST00000542672.1_Splice_Site_p.Q552_splice|ACTN2_ENST00000546208.1_Splice_Site_p.Q46_splice	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	552					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.Q552Q(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGGAGATCCAGGTAATGGAAC	0.423000													4	82					0	0	0.009096	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32125471	32125471	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:32125471G>C	ENST00000422437.1	+	6	790	c.599G>C	c.(598-600)gGg>gCg	p.G200A	PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.G200A|PPT2_ENST00000361568.2_Missense_Mutation_p.G206A|PPT2_ENST00000395523.1_Missense_Mutation_p.G200A|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.G200A|PPT2_ENST00000324816.6_Missense_Mutation_p.G200A|PPT2_ENST00000437001.2_Missense_Mutation_p.G77A|PPT2_ENST00000375143.2_Missense_Mutation_p.G200A														p.G206A(1)									CTGATCAATGGGGAAAGAGAC	0.507000													3	77					0	0	0.009096	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626781	232626781	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:232626781C>G	ENST00000366630.1	-	4	2003	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E549Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	549					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E549Q(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATAGCATCTTCTAAAATTGCT	0.423000													14	43					0	0	0.004990	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708820	36708820	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:36708820C>A	ENST00000264659.7	-	13	2567	c.2343G>T	c.(2341-2343)ccG>ccT	p.P781P	SRCIN1_ENST00000578925.1_Silent_p.P815P|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	653					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	p.P781P(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTGCAGGCCCGGGAAGTGAG	0.647000													3	19					0.004672	0.00501827	0.004672	1	0
DNAH8	1769	broad.mit.edu	37	6	38850818	38850818	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:38850818A>G	ENST00000359357.3	+	52	7594	c.7340A>G	c.(7339-7341)aAa>aGa	p.K2447R	DNAH8_ENST00000441566.1_Missense_Mutation_p.K2411R|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2664R					dynein, axonemal, heavy chain 8									p.K2447R(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACCATTGCAAAACAACATAAA	0.323000													4	107					0	0	0.000602	0	0
OR4A16	81327	broad.mit.edu	37	11	55111106	55111106	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55111106G>T	ENST00000314721.2	+	1	480	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V144L(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CCTTCTGTTGGTGGTGGCCAT	0.463000													39	163					7.63091e-17	1.18176e-16	0.007835	1	0
EPB41L3	23136	broad.mit.edu	37	18	5489113	5489113	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:5489113C>A	ENST00000341928.2	-	2	410	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	EPB41L3_ENST00000400111.3_Missense_Mutation_p.G24W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G24W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G24W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G24W	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	24					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G24W(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ccctgcgcccccgccgccTCC	0.692000													12	21					9.16793e-09	1.21281e-08	0.004990	1	0
ERBB4	2066	broad.mit.edu	37	2	212248650	212248650	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:212248650G>A	ENST00000342788.4	-	28	3927	c.3617C>T	c.(3616-3618)cCa>cTa	p.P1206L	ERBB4_ENST00000436443.1_Missense_Mutation_p.P1190L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1196L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1206					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P1206L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGGTACAGTGGCTCATTCAC	0.463000										TSP Lung(8;0.080)			40	321					0	0	0.007835	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817337	200817337	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:200817337A>G	ENST00000358823.2	+	11	1710	c.1440A>G	c.(1438-1440)gaA>gaG	p.E480E	CAMSAP2_ENST00000413307.2_Silent_p.E464E|CAMSAP2_ENST00000236925.4_Silent_p.E491E	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	491						cytoplasm|microtubule	protein binding	p.E480E(1)									TAAATGGAGAAGAGGAAGCAG	0.353000													12	72					0	0	0.001855	0	0
LAMA2	3908	broad.mit.edu	37	6	129571289	129571289	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:129571289C>A	ENST00000421865.2	+	13	1864	c.1815C>A	c.(1813-1815)acC>acA	p.T605T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	605	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.T605K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGACATTTACCATATCATATG	0.398000													56	100					1.53582e-20	2.46494e-20	0.003610	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065640	55065640	+	RNA	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55065640G>A	ENST00000526016.1	-	0	68					NR_038174.2																						AAACAGGGCCGGCAAAAGCTG	0.493000													31	51					0	0	0.004289	0	0
CSMD3	114788	broad.mit.edu	37	8	114111174	114111174	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:114111174C>T	ENST00000297405.5	-	5	972	c.728G>A	c.(727-729)gGa>gAa	p.G243E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G203E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G243E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G243E|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	243	CUB 2.					integral to membrane|plasma membrane		p.G203E(1)|p.G243E(1)		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						TCTCATTGTTCCTCCACAAGC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	56					0	0	0.008291	0	0
HP1BP3	50809	broad.mit.edu	37	1	21071530	21071530	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:21071530C>A	ENST00000375003.2	-	9	2466	c.966G>T	c.(964-966)caG>caT	p.Q322H	HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q474H			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	474	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding	p.Q474H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGGACCCTCTCTGCTTCACAG	0.537000													28	169					3.99451e-17	6.20587e-17	0.009535	1	0
MAST3	23031	broad.mit.edu	37	19	18245766	18245766	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:18245766A>T	ENST00000262811.5	+	16	1757	c.1757A>T	c.(1756-1758)gAg>gTg	p.E586V		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	586	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E608V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GATACCCCCGAGGAACTCTTC	0.632000													8	72					0	0	0.006214	0	0
MOV10	4343	broad.mit.edu	37	1	113232654	113232654	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:113232654A>T	ENST00000369644.1	+	6	1631	c.602A>T	c.(601-603)aAg>aTg	p.K201M	MOV10_ENST00000369645.1_Missense_Mutation_p.K257M|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.K257M|MOV10_ENST00000357443.2_Missense_Mutation_p.K257M			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	257					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.K257M(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACTCCCTTCAAGCGGACCCGG	0.617000													44	85					0	0	0.003610	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48832429	48832429	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:48832429C>A	ENST00000376441.1	-	24	2313		c.e24+1		GRIPAP1_ENST00000376444.3_Splice_Site|GRIPAP1_ENST00000376425.3_Splice_Site	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							early endosome		p.?(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGACACTGACCGATCCGGCT	0.617000													6	20					0.000157383	0.000179787	0.003080	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140725293	140725293	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140725293C>T	ENST00000253812.6	+	1	1693	c.1693C>T	c.(1693-1695)Ccc>Tcc	p.P565S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.P565S(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTACCCCGCCCTCCC	0.662000													31	194					0	0	0.003755	0	0
TTN	7273	broad.mit.edu	37	2	179584410	179584410	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179584410T>C	ENST00000589042.1	-	82	24033	c.23809A>G	c.(23809-23811)Att>Gtt	p.I7937V	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I6693V|TTN_ENST00000591111.1_Missense_Mutation_p.I7620V|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7620	Ig-like 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I6693V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAATGTAATGTGATGTTTG	0.398000													20	175					0	0	0.007413	0	0
NLRP11	204801	broad.mit.edu	37	19	56303674	56303674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:56303674C>A	ENST00000443188.1	-	9	3216	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	NLRP11_ENST00000592953.1_Nonsense_Mutation_p.E737*|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.E782*|NLRP11_ENST00000589093.1_Nonsense_Mutation_p.E836*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.E782*	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	836							ATP binding	p.E836*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TACTGAAGCTCCTCTAACTGA	0.483000													69	84					8.13855e-26	1.38641e-25	0.003610	1	0
MS4A6A	64231	broad.mit.edu	37	11	59945759	59945759	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:59945759T>A	ENST00000528851.1	-	4	453	c.313A>T	c.(313-315)Aca>Tca	p.T105S	MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T133S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T105S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.T105S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T133S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T60S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.T105S|MS4A6A_ENST00000529906.1_5'UTR			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	105						integral to membrane	receptor activity	p.T133S(1)|p.T105S(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTTCTCTGTGGCGATTGAT	0.393000													9	81					0	0	0.006214	0	0
SMYD3	64754	broad.mit.edu	37	1	245912930	245912930	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:245912930G>T	ENST00000490107.1	-	12	1261	c.1045C>A	c.(1045-1047)Cac>Aac	p.H349N	SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.H408N|SMYD3_ENST00000541742.1_Missense_Mutation_p.H349N	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	408						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.H349N(1)|p.H408N(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		ATCAGGCTGTGTTCTCTGCCA	0.463000													11	71					6.42651e-13	9.51241e-13	0.000978	1	0
FAM13C	220965	broad.mit.edu	37	10	61011385	61011385	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:61011385C>T	ENST00000373867.3	-	14	1797	c.1332G>A	c.(1330-1332)ctG>ctA	p.L444L	FAM13C_ENST00000373868.2_Silent_p.L528L|FAM13C_ENST00000419214.2_Silent_p.L430L|FAM13C_ENST00000468840.2_Silent_p.L445L|FAM13C_ENST00000435852.2_Silent_p.L528L|FAM13C_ENST00000277705.6_Silent_p.L548L|FAM13C_ENST00000442566.3_Silent_p.L549L	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	528								p.L528L(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCTTTCCGCAGTCTCTTCT	0.393000													62	207					0	0	0.003610	0	0
SERPINB10	5273	broad.mit.edu	37	18	61587111	61587111	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:61587111C>T	ENST00000238508.3	+	5	521	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.I154I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GAAAGGACATCAACTCTTGGG	0.393000													13	95					0	0	0.001368	0	0
LAMP2	3920	broad.mit.edu	37	X	119575734	119575734	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:119575734T>A	ENST00000371335.4	-	8	1080	c.944A>T	c.(943-945)aAt>aTt	p.N315I	LAMP2_ENST00000540603.1_Missense_Mutation_p.N268I|LAMP2_ENST00000538785.1_Missense_Mutation_p.N204I|LAMP2_ENST00000434600.2_Missense_Mutation_p.N315I|LAMP2_ENST00000200639.4_Missense_Mutation_p.N315I	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	315	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.N315I(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GAGATTGTTATTTGCAATGCT	0.418000													24	87					0	0	0.004656	0	0
REG3A	5068	broad.mit.edu	37	2	79384785	79384785	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:79384785T>A	ENST00000393878.1	-	4	627	c.373A>T	c.(373-375)Agt>Tgt	p.S125C	REG3A_ENST00000305165.2_Missense_Mutation_p.S125C|REG3A_ENST00000409839.3_Missense_Mutation_p.S125C	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	125	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.S125C(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATCACATCACTGCTACTCCAC	0.542000													7	133					0	0	0.001984	0	0
ABCA10	10349	broad.mit.edu	37	17	67178860	67178860	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:67178860C>A	ENST00000269081.4	-	22	3496	c.2587G>T	c.(2587-2589)Gat>Tat	p.D863Y	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	863					transport	integral to membrane	ATP binding|ATPase activity	p.D863Y(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TAGGAGGGATCATCTGAGCCA	0.373000													39	241					5.73237e-09	7.6563e-09	0.006230	1	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48872251	48872251	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:48872251T>C	ENST00000394754.1	+	7	2609	c.2495T>C	c.(2494-2496)gTa>gCa	p.V832A	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V832A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V832A|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V832A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V128A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V94A|STON1-GTF2A1L_ENST00000394751.3_Intron|LHCGR_ENST00000420913.3_Intron	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.V832A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTACAGACTGTATCTGGTGAG	0.328000													4	117					0	0	0.000602	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398916	10398916	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:10398916C>A	ENST00000379613.3	-	7	1310	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	TFAP2A_ENST00000319516.4_Missense_Mutation_p.D346Y|TFAP2A_ENST00000379604.2_Missense_Mutation_p.D350Y|TFAP2A_ENST00000379608.3_Missense_Mutation_p.D344Y|TFAP2A_ENST00000482890.1_Missense_Mutation_p.D350Y			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	350	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D350Y(1)|p.D344Y(1)|p.D346Y(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCAGCAGGTCGGTGAACTCT	0.567000													50	244					3.28156e-27	5.59998e-27	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237982399	237982399	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:237982399G>C	ENST00000366574.2	+	101	14814	c.14497G>C	c.(14497-14499)Gac>Cac	p.D4833H	RYR2_ENST00000542537.1_Missense_Mutation_p.D4817H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4839H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4833					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4831H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAATCGAAGACCCAGCAGG	0.413000													24	92					0	0	0.002780	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													3	39					0	0	0.009096	0	0
CROT	54677	broad.mit.edu	37	7	87022321	87022321	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:87022321G>T	ENST00000331536.3	+	17	1841	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	CROT_ENST00000419147.2_Missense_Mutation_p.Q580H|CROT_ENST00000442291.1_Missense_Mutation_p.Q552H	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	552					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Q552H(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TACGAGTCCAGGGAGTGGTAG	0.418000													68	262					2.40655e-23	4.0289e-23	0.003610	1	0
OR4N5	390437	broad.mit.edu	37	14	20612039	20612039	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20612039A>T	ENST00000333629.1	+	1	145	c.145A>T	c.(145-147)Ata>Tta	p.I49L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I49L(1)		endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CATTTTCACCATAAAGTCAGA	0.463000													111	250					0	0	0.003610	0	0
ACLY	47	broad.mit.edu	37	17	40063719	40063719	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:40063719G>A	ENST00000352035.2	-	7	853	c.723C>T	c.(721-723)ccC>ccT	p.P241P	ACLY_ENST00000393896.2_Silent_p.P241P|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.P241P|ACLY_ENST00000353196.1_Silent_p.P241P	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	241					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.P241P(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCCGCCCGAAGGGGGGAGGGA	0.577000													35	95					0	0	0.004878	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110023681	110023681	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:110023681A>T	ENST00000453089.2	+	2	1599	c.718A>T	c.(718-720)Aaa>Taa	p.K240*	ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.K272*|ZC3H12C_ENST00000278590.3_Nonsense_Mutation_p.K271*			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	271							endonuclease activity|nucleic acid binding|zinc ion binding	p.K271*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAGAGGAATAAAATTGGCAGT	0.363000													10	31					0	0	0.008291	0	0
CUBN	8029	broad.mit.edu	37	10	16878336	16878336	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:16878336C>A	ENST00000377833.4	-	63	10143	c.10078G>T	c.(10078-10080)Gct>Tct	p.A3360S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3360	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.A3360S(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTGGCACAGCCGAAGCATTT	0.393000													10	97					3.86212e-05	4.50194e-05	0.008291	1	0
CKAP2L	150468	broad.mit.edu	37	2	113513676	113513676	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:113513676C>A	ENST00000541405.1	-	4	1300	c.777G>T	c.(775-777)aaG>aaT	p.K259N	CKAP2L_ENST00000302450.6_Missense_Mutation_p.K424N			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	424						centrosome		p.K424N(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGGAACAGCCTTTTTCAACT	0.408000													73	479					3.4887e-51	6.10366e-51	0.003610	1	0
RPS4Y1	6192	broad.mit.edu	37	Y	2712266	2712266	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrY:2712266G>T	ENST00000250784.8	+	3	369	c.230G>T	c.(229-231)cGa>cTa	p.R77L		NM_001008.3	NP_000999.1			ribosomal protein S4, Y-linked 1									p.R77L(1)		kidney(1)|lung(2)	3						GGCAAGGTTCGAGTGGATGTC	0.423000													59	101					2.44918e-20	3.92435e-20	0.003610	1	0
MKRN1	23608	broad.mit.edu	37	7	140154936	140154936	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:140154936C>G	ENST00000255977.2	-	7	1419	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q|MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	399							ligase activity|nucleic acid binding|protein binding|zinc ion binding	p.E399Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTCTGTGGCTCCTCTCTACGG	0.488000													19	162					0	0	0.003271	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378677	114378677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:114378677G>T	ENST00000312719.5	-	5	1973	c.785C>A	c.(784-786)cCt>cAt	p.P262H	HS3ST5_ENST00000411826.1_Missense_Mutation_p.P262H|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	262					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.P262H(1)|p.P262L(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TTCTGGCAGAGGTTCCGTGAT	0.433000													43	118					1.22674e-20	1.97868e-20	0.008740	1	0
KIAA1324	57535	broad.mit.edu	37	1	109735309	109735309	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:109735309A>G	ENST00000369939.3	+	14	1943	c.1760A>G	c.(1759-1761)tAc>tGc	p.Y587C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.Y500C|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	587					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		p.Y587C(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GTGGCCTCCTACTGCCGTCCC	0.522000													51	318					0	0	0.003610	0	0
ABCC9	10060	broad.mit.edu	37	12	21970121	21970121	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:21970121C>A	ENST00000261200.4	-	31	3891	c.3892_splice	c.e31+1	p.D1298_splice	ABCC9_ENST00000345162.2_Splice_Site_p.D1262_splice|ABCC9_ENST00000261201.4_Splice_Site_p.D1298_splice	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1298					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D1298Y(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAGCAATACCCATTGTGCCT	0.398000													47	91					1.30916e-28	2.24593e-28	0.003610	1	0
OR52B6	340980	broad.mit.edu	37	11	5602329	5602329	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:5602329C>A	ENST00000345043.2	+	1	223	c.223C>A	c.(223-225)Ctg>Atg	p.L75M	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L75L(1)|p.L75M(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGCAATCCTGCATGAGCC	0.507000													50	92					9.52127e-25	1.61065e-24	0.003610	1	0
TAS2R46	259292	broad.mit.edu	37	12	11214459	11214459	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:11214459A>C	ENST00000533467.1	-	1	434	c.435T>G	c.(433-435)ttT>ttG	p.F145L	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	145					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.?(1)|p.F145L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTTTATCACAAAAAGATGAC	0.348000													4	91					0	0	0.001984	0	0
DZIP1	22873	broad.mit.edu	37	13	96293708	96293708	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr13:96293708C>T	ENST00000347108.3	-	3	870	c.438G>A	c.(436-438)gaG>gaA	p.E146E	DZIP1_ENST00000376829.2_Silent_p.E146E|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Silent_p.E146E|DZIP1_ENST00000361156.3_Silent_p.E146E			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	146					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.E146E(2)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCAGCCGCTCCTCCAGGGTGT	0.617000													10	22					0	0	0.008291	0	0
XPOT	11260	broad.mit.edu	37	12	64814133	64814133	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:64814133G>T	ENST00000332707.5	+	8	1204	c.674_splice	c.e8-1	p.R225_splice		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	225	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R225S(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		CCATTACCAGGTTTATAAATA	0.308000													39	96					5.43694e-19	8.57024e-19	0.005524	1	0
GATM	2628	broad.mit.edu	37	15	45660383	45660383	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:45660383C>A	ENST00000396659.3	-	4	899	c.560G>T	c.(559-561)cGt>cTt	p.R187L	GATM_ENST00000558336.1_Missense_Mutation_p.R187L	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	187					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding	p.R187L(1)		biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GAAGCGTGAACGCCATGCCAT	0.488000													9	29					1.58986e-06	1.96157e-06	0.008291	1	0
PUS7L	83448	broad.mit.edu	37	12	44136349	44136349	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:44136349A>C	ENST00000416848.2	-	5	1761	c.1273T>G	c.(1273-1275)Ttt>Gtt	p.F425V	PUS7L_ENST00000344862.5_Missense_Mutation_p.F425V|PUS7L_ENST00000431332.3_Missense_Mutation_p.F112V|PUS7L_ENST00000551923.1_Missense_Mutation_p.F425V	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	425	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.F425V(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TAATTCACAAAGCCTTTTTTC	0.294000													6	132					0	0	0.001168	0	0
MYH2	4620	broad.mit.edu	37	17	10432238	10432238	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:10432238C>T	ENST00000245503.5	-	27	3897	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1171K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1171					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1171K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCCGCTTCTTGTTCATCT	0.597000													5	214					0	0	0.001984	0	0
UTRN	7402	broad.mit.edu	37	6	144863971	144863971	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:144863971A>T	ENST00000367545.3	+	45	6560	c.6560A>T	c.(6559-6561)cAg>cTg	p.Q2187L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2187					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.Q2187L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAATGCATCCAGGAGCCCAGT	0.368000													3	38					0	0	0.009096	0	0
SNCB	6620	broad.mit.edu	37	5	176053505	176053505	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:176053505G>T	ENST00000310112.3	-	5	426	c.176C>A	c.(175-177)aCc>aAc	p.T59N	SNCB_ENST00000506696.1_Missense_Mutation_p.T59N|SNCB_ENST00000510387.1_Missense_Mutation_p.T59N|SNCB_ENST00000393693.2_Missense_Mutation_p.T59N	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	59	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity	p.T59N(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTTCCTTGGTTTTTTCAGC	0.592000													4	63					0.00909568	0.00965236	0.009096	1	0
HIVEP3	59269	broad.mit.edu	37	1	41978593	41978593	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:41978593C>A	ENST00000372584.1	-	7	7313	c.6299G>T	c.(6298-6300)gGg>gTg	p.G2100V	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2100V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2100V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2100V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2100	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G2100V(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCATGCTCCCCCGCTGAGGG	0.701000													5	11					0.00198382	0.00215952	0.001984	1	0
TTN	7273	broad.mit.edu	37	2	179429980	179429980	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179429980G>C	ENST00000589042.1	-	326	81103	c.80879C>G	c.(80878-80880)aCa>aGa	p.T26960R	TTN_ENST00000342175.6_Missense_Mutation_p.T18087R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17895R|TTN_ENST00000342992.6_Missense_Mutation_p.T24392R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25319R|TTN_ENST00000359218.5_Missense_Mutation_p.T18020R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25319	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18020R(1)|p.T24392R(1)|p.T17895R(1)|p.T24390R(1)|p.T18087R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTTGCTGTGCCTGCACT	0.408000													34	155					0	0	0.002836	0	0
TRIM51	84767	broad.mit.edu	37	11	55657475	55657475	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55657475G>T	ENST00000449290.2	+	6	911	c.819G>T	c.(817-819)ggG>ggT	p.G273G	TRIM51_ENST00000244891.3_Silent_p.G130G	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	273	B30.2/SPRY.					intracellular	zinc ion binding	p.G273G(1)|p.G114G(1)									TCAGTGCAGGGCCCATCACTG	0.498000													5	45					3.59834e-05	4.2147e-05	0.001168	1	0
IQSEC3	440073	broad.mit.edu	37	12	266787	266787	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:266787C>A	ENST00000538872.1	+	7	2488	c.2370C>A	c.(2368-2370)aaC>aaA	p.N790K	IQSEC3_ENST00000382841.2_Missense_Mutation_p.N487K|IQSEC3_ENST00000326261.4_Missense_Mutation_p.N790K			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	790	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.N487K(1)|p.N790K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TCCTCCTCAACACCGACATGT	0.582000													6	105					0.00116845	0.00129221	0.001168	1	0
MASP1	5648	broad.mit.edu	37	3	186961390	186961390	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:186961390T>A	ENST00000337774.5	-	9	1499	c.1110A>T	c.(1108-1110)ccA>ccT	p.P370P	MASP1_ENST00000296280.6_Silent_p.P370P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.P257P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	370	Sushi 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.P370P(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCAGCTCTCCTGGGGCTCTAC	0.478000													11	158					0	0	0.000978	0	0
HAMP	57817	broad.mit.edu	37	19	35775840	35775840	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:35775840G>T	ENST00000598398.1	+	4	446		c.e4-1		HAMP_ENST00000222304.3_Splice_Site	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide						defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	p.?(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTTCCCACAGCCCATGTTCC	0.587000													20	195					2.4624e-09	3.32543e-09	0.008871	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070473	114070473	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:114070473A>C	ENST00000462705.1	-	11	1054	c.233T>G	c.(232-234)gTg>gGg	p.V78G	ZBTB20_ENST00000471418.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V78G|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V151G|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V78G|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V78G	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		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)		GAGCTTTTGCACTGACTGCAC	0.592000													6	49					0	0	0.001168	0	0
SYT5	6861	broad.mit.edu	37	19	55689649	55689649	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55689649C>T	ENST00000354308.3	-	3	536	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	SYT5_ENST00000537500.1_Missense_Mutation_p.R56Q|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	56					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R56Q(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGTCCGCCTCCGACAGCTCTT	0.627000													11	9					0	0	0.001368	0	0
ANKRD37	353322	broad.mit.edu	37	4	186320857	186320857	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:186320857T>A	ENST00000335174.4	+	4	846	c.406T>A	c.(406-408)Tgt>Agt	p.C136S		NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	136						cytoplasm|nucleus		p.C136S(1)		NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAGGAATGATTGTGTTGCCGT	0.438000													14	105					0	0	0.004990	0	0
ADAM33	80332	broad.mit.edu	37	20	3652889	3652889	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:3652889G>T	ENST00000356518.2	-	14	1730	c.1489C>A	c.(1489-1491)Cca>Aca	p.P497T	ADAM33_ENST00000379861.4_Missense_Mutation_p.P497T|ADAM33_ENST00000350009.2_Missense_Mutation_p.P497T|ADAM33_ENST00000466620.1_5'UTR	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	497	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P497T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TAAACGTCTGGGGGACAGTGG	0.657000													15	93					2.32078e-09	3.14293e-09	0.003163	1	0
CHRNA4	1137	broad.mit.edu	37	20	61990962	61990962	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:61990962C>A	ENST00000370263.4	-	2	387	c.166G>T	c.(166-168)Gcc>Tcc	p.A56S	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	56					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.A56S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GAGATGTTGGCCACGGGTCGG	0.637000													14	90					0.000151284	0.000174462	0.001855	1	0
MUC17	140453	broad.mit.edu	37	7	100685732	100685732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:100685732C>A	ENST00000306151.4	+	3	11099	c.11035C>A	c.(11035-11037)Cct>Act	p.P3679T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3679	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P3679N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTGTGACTCCTGAAGGTAC	0.517000													6	239					0.00116845	0.00129221	0.001168	1	0
SRPX	8406	broad.mit.edu	37	X	38033550	38033550	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:38033550G>A	ENST00000378533.3	-	3	318	c.212C>T	c.(211-213)gCc>gTc	p.A71V	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.A71V|SRPX_ENST00000544439.1_Missense_Mutation_p.A51V|SRPX_ENST00000538295.1_Missense_Mutation_p.A71V|SRPX_ENST00000343800.6_Missense_Mutation_p.A58V	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	71	Sushi 1.				cell adhesion	cell surface|membrane		p.A71V(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						TCCTTGAGGGGCCCTGCAGTA	0.517000													21	14					0	0	0.001882	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559152	129559152	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:129559152C>G	ENST00000422113.2	-	9	2894	c.2568G>C	c.(2566-2568)acG>acC	p.T856T	TMEM132D_ENST00000389441.4_Silent_p.T394T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	856						integral to membrane		p.T856T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCTGTCTGTCGTGGTGCCCC	0.552000													10	84					0	0	0.008291	0	0
FBXO38	81545	broad.mit.edu	37	5	147818033	147818033	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:147818033G>A	ENST00000340253.5	+	18	3164	c.2996G>A	c.(2995-2997)cGc>cAc	p.R999H	FBXO38_ENST00000394370.3_Missense_Mutation_p.R924H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R754H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R754H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	999						cytoplasm|nucleus		p.R999H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAGAAACCGCATCATATAC	0.408000													23	71					0	0	0.003330	0	0
TRIM51	84767	broad.mit.edu	37	11	55653024	55653024	+	Nonsense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55653024C>G	ENST00000449290.2	+	2	212	c.120C>G	c.(118-120)taC>taG	p.Y40*		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	40						intracellular	zinc ion binding	p.Y40*(1)									CCTGTTTGTACCTCAACTGGC	0.507000													5	71					0	0	0.000602	0	0
SPCS3	60559	broad.mit.edu	37	4	177241368	177241368	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:177241368G>C	ENST00000503362.1	+	1	254	c.141G>C	c.(139-141)atG>atC	p.M47I	RP11-87F15.2_ENST00000512634.1_RNA	NM_021928.3	NP_068747.1	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3 homolog (S. cerevisiae)	47					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity	p.M47I(1)		ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		CGCGGATCATGCTGTGAGTGA	0.741000													13	28					0	0	0.001855	0	0
GPR112	139378	broad.mit.edu	37	X	135427278	135427278	+	Silent	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:135427278T>A	ENST00000394143.1	+	6	1704	c.1413T>A	c.(1411-1413)ccT>ccA	p.P471P	GPR112_ENST00000370652.1_Silent_p.P471P|GPR112_ENST00000394141.1_Silent_p.P266P|GPR112_ENST00000287534.4_Silent_p.P408P|GPR112_ENST00000412101.1_Silent_p.P266P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	471					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P471P(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CACCTGAGCCTGTGCTCATCT	0.448000													5	78					0	0	0.000602	0	0
CLEC11A	6320	broad.mit.edu	37	19	51226833	51226833	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51226833C>T	ENST00000250340.4	+	1	248	c.51C>T	c.(49-51)ggC>ggT	p.G17G	CLEC11A_ENST00000599973.1_Silent_p.G17G	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	17					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding	p.G17G(1)		kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTCTTGGGCTTTGGCCATG	0.632000													7	93					0	0	0.003080	0	0
CHFR	55743	broad.mit.edu	37	12	133447364	133447364	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:133447364C>A	ENST00000266880.7	-	5	412	c.349G>T	c.(349-351)Gca>Tca	p.A117S	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.A117S|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000432561.2_Missense_Mutation_p.A117S|CHFR_ENST00000315585.7_Missense_Mutation_p.A117S			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	117					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A117S(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		TAGAGGTATGCCACGTCTAAA	0.388000													13	118					1.5842e-08	2.09287e-08	0.001855	1	0
SVEP1	79987	broad.mit.edu	37	9	113151817	113151817	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:113151817C>T	ENST00000401783.2	-	41	10209	c.9873G>A	c.(9871-9873)gtG>gtA	p.V3291V	SVEP1_ENST00000297826.5_Silent_p.V1217V|SVEP1_ENST00000374469.1_Silent_p.V3268V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3291	Sushi 31.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.V3294V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCATATTGCCACCCCTCCAC	0.433000													26	54					0	0	0.008361	0	0
HOXA7	3204	broad.mit.edu	37	7	27196009	27196009	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27196009C>G	ENST00000242159.3	-	1	289	c.156G>C	c.(154-156)ccG>ccC	p.P52P		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	52					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.P52P(1)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						TGTATAAGCCCGGAACGGTCG	0.642000													8	90					0	0	0.004482	0	0
AC024592.12	0	broad.mit.edu	37	19	5896936	5896936	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:5896936C>T	ENST00000586349.1	-	2	164	c.165G>A	c.(163-165)tgG>tgA	p.W55*	NDUFA11_ENST00000308961.4_Missense_Mutation_p.G57E|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.G57E|NDUFA11_ENST00000418389.2_Missense_Mutation_p.G57E														p.G57E(1)									CGTGTATTGTCCAACCTTAGC	0.612000													7	143					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179446708	179446708	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:179446708C>G	ENST00000589042.1	-	315	66612	c.66388G>C	c.(66388-66390)Gtt>Ctt	p.V22130L	TTN_ENST00000342175.6_Missense_Mutation_p.V13257L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13065L|TTN_ENST00000342992.6_Missense_Mutation_p.V19562L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20489L|TTN_ENST00000359218.5_Missense_Mutation_p.V13190L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20489	Fibronectin type-III 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V13190L(1)|p.V19562L(1)|p.V13257L(1)|p.V13065L(1)|p.V19560L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGCTGTAACACGGAACTCA	0.443000													5	198					0	0	0.000602	0	0
TRPM2	7226	broad.mit.edu	37	21	45833845	45833845	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr21:45833845G>T	ENST00000397928.1	+	20	3479	c.3034G>T	c.(3034-3036)Gac>Tac	p.D1012Y	TRPM2_ENST00000300482.5_Missense_Mutation_p.D1012Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1012Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D992Y	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1012						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.D1012Y(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCCGAGAGCGACGCGACGCA	0.627000													45	324					2.76378e-25	4.68348e-25	0.003610	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118350659	118350659	+	Silent	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118350659A>T	ENST00000528052.1	+	2	89	c.18A>T	c.(16-18)acA>acT	p.T6T	PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Silent_p.T6T|PNLIPRP1_ENST00000358834.4_Silent_p.T6T|PNLIPRP1_ENST00000534537.1_Silent_p.T6T			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	6					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.T6T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCTTCTGGACAATCACACTTT	0.493000													8	55					0	0	0.006214	0	0
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:113242307G>C	ENST00000369644.1	+	19	3445	c.2415_splice	c.e19-1	p.V806_splice	MOV10_ENST00000369645.1_Splice_Site_p.V862_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.V862_splice|MOV10_ENST00000357443.2_Splice_Site_p.V862_splice			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	862					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567000													38	112					0	0	0.006230	0	0
ARMC3	219681	broad.mit.edu	37	10	23235134	23235134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:23235134C>A	ENST00000298032.5	+	3	194	c.110C>A	c.(109-111)cCa>cAa	p.P37Q	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.P37Q|ARMC3_ENST00000409983.3_Missense_Mutation_p.P37Q	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	37							binding	p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTTAATTCTCCAGAAGAGGAA	0.313000													37	87					3.09479e-21	5.03356e-21	0.006999	1	0
RUSC1	23623	broad.mit.edu	37	1	155298032	155298032	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155298032G>C	ENST00000368352.5	+	9	2657	c.2506G>C	c.(2506-2508)Gag>Cag	p.E836Q	RUSC1_ENST00000292254.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000368347.4_Missense_Mutation_p.E426Q|RUSC1_ENST00000368354.3_Missense_Mutation_p.E730Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	836						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.E426Q(1)|p.E730Q(1)|p.E367Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TCAGGAGCTTGAGGCCTCAGC	0.552000													14	234					0	0	0.007413	0	0
C14orf37	145407	broad.mit.edu	37	14	58604955	58604955	+	Silent	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:58604955T>G	ENST00000267485.7	-	2	1316	c.1122A>C	c.(1120-1122)acA>acC	p.T374T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	374						integral to membrane	binding	p.T374T(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCCCGTGTGTGTTTCCCCTT	0.537000													7	235					0	0	0.003080	0	0
MPP7	143098	broad.mit.edu	37	10	28378646	28378646	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:28378646C>A	ENST00000337532.5	-	13	1353	c.1077G>T	c.(1075-1077)ccG>ccT	p.P359P	MPP7_ENST00000445954.2_Silent_p.P234P|MPP7_ENST00000540098.1_Silent_p.P359P|MPP7_ENST00000375719.3_Silent_p.P359P|MPP7_ENST00000375732.1_Silent_p.P359P	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	359					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.P359P(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCGCCGATACGGTGTCACTT	0.383000													5	288					1.024e-07	1.30829e-07	0.000602	1	0
CYP2C9	1559	broad.mit.edu	37	10	96748684	96748684	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:96748684C>T	ENST00000260682.6	+	9	1384	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	458					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.L458L(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAACTTTAACCTGAAATCTCT	0.473000													29	216					0	0	0.008361	0	0
JMJD4	65094	broad.mit.edu	37	1	227922419	227922419	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:227922419C>A	ENST00000366758.3	-	2	498	c.499G>T	c.(499-501)Gag>Tag	p.E167*	JMJD4_ENST00000438896.2_Nonsense_Mutation_p.E167*|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	167								p.E167*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				TGTATGTACTCTTTCCAGTAG	0.552000													11	113					2.31682e-05	2.73678e-05	0.003163	1	0
ZNF648	127665	broad.mit.edu	37	1	182025857	182025857	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:182025857G>A	ENST00000339948.3	-	2	1496	c.1289C>T	c.(1288-1290)aCc>aTc	p.T430I		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T430I(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGAGGACTTGGTGAAGCACTT	0.692000													3	8					0	0	0.004672	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338961	13338961	+	RNA	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:13338961C>T	ENST00000602906.1	+	0	749																		p.P92L(1)		kidney(3)|lung(1)	4						AAGACCAAGCCTATTTGGACC	0.418000													20	49					0	0	0.002780	0	0
RPL23A	6147	broad.mit.edu	37	17	27050643	27050643	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:27050643G>T	ENST00000422514.2	+	4	1054	c.441G>T	c.(439-441)ttG>ttT	p.L147F	RPL23A_ENST00000496182.1_Missense_Mutation_p.L61F|RPL23A_ENST00000472628.1_Missense_Mutation_p.L61F|RPL23A_ENST00000394938.4_Missense_Mutation_p.L185F	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	147					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome	p.L147F(1)		endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					ACGATGCTTTGGATGTTGCCA	0.498000													7	284					2.7689e-08	3.62834e-08	0.001984	1	0
KCNN4	3783	broad.mit.edu	37	19	44273613	44273613	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:44273613G>A	ENST00000262888.3	-	6	1425	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	344	Calmodulin-binding.				defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCGGCCAGCAGCTTGCGCTGA	0.577000													5	70					0	0	0.001168	0	0
PSD2	84249	broad.mit.edu	37	5	139216500	139216500	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:139216500T>C	ENST00000274710.3	+	10	1713	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	503					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.L503P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACCCCTTCCTGGATGTCCCA	0.592000													39	138					0	0	0.002522	0	0
C3orf58	205428	broad.mit.edu	37	3	143704422	143704422	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:143704422A>G	ENST00000315691.3	+	2	1230	c.695A>G	c.(694-696)tAt>tGt	p.Y232C	C3orf58_ENST00000495414.1_Missense_Mutation_p.Y23C|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_5'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	232						COPI vesicle coat|extracellular region		p.Y232C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGCAAAGTATCTTGGAGCT	0.393000													11	259					0	0	0.000978	0	0
UGT2A1	10941	broad.mit.edu	37	4	70460881	70460881	+	Splice_Site	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:70460881A>G	ENST00000503640.1	-	4	1138	c.1084_splice	c.e4+1	p.L361_splice	UGT2A1_ENST00000514019.1_Splice_Site_p.L527_splice|UGT2A1_ENST00000512704.1_Splice_Site_p.L317_splice|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Splice_Site_p.L361_splice|UGT2A2_ENST00000457664.2_Splice_Site_p.L370_splice	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	361					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	p.L361L(1)|p.L370L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CAGTCTTACCAAGAAGATCAT	0.338000													25	95					0	0	0.005443	0	0
G3BP1	10146	broad.mit.edu	37	5	151173720	151173720	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:151173720G>T	ENST00000394123.3	+	5	497	c.351_splice	c.e5-1	p.G118_splice	G3BP1_ENST00000543466.1_Intron|G3BP1_ENST00000356245.3_Splice_Site_p.G118_splice			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	118	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding	p.G118W(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GGCATTGCAGGGGTCTGTTGC	0.413000													6	106					0.00198382	0.00215952	0.001984	1	0
ARHGEF12	23365	broad.mit.edu	37	11	120298883	120298883	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:120298883C>T	ENST00000397843.2	+	8	678	c.512C>T	c.(511-513)cCc>cTc	p.P171L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	171					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P171L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CATATGTCTCCCATCATGACA	0.498000			T	MLL	AML								5	347					0	0	0.000602	0	0
FAM189B	10712	broad.mit.edu	37	1	155223710	155223710	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:155223710C>T	ENST00000361361.2	-	4	962	c.453G>A	c.(451-453)tcG>tcA	p.S151S	FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000368368.3_Silent_p.S132S	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	151						integral to membrane	WW domain binding	p.S151S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTTCCTGCCCCGACTCTGGAC	0.602000													48	52					0	0	0.003610	0	0
NDST4	64579	broad.mit.edu	37	4	115760594	115760594	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:115760594T>C	ENST00000264363.2	-	11	2904	c.2226A>G	c.(2224-2226)ctA>ctG	p.L742L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	742	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L742L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCCAGGTACTAGGCATCTTC	0.378000													8	120					0	0	0.008291	0	0
FMN2	56776	broad.mit.edu	37	1	240370957	240370957	+	Missense_Mutation	SNP	C	C	T	rs6143701		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:240370957C>T	ENST00000319653.9	+	5	3075	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	949	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1092S(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCCCCCTCTACCCGGAGCGGC	0.692000													12	61					0	0	0.004007	0	0
STK11	6794	broad.mit.edu	37	19	1219359	1219359	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:1219359G>T	ENST00000326873.7	+	3	1584	c.411G>T	c.(409-411)caG>caT	p.Q137H	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	137	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.Q137_E138>H*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCATGCAGGAAATGCTGG	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			7	3					0.00307968	0.00332263	0.003080	1	0
BRSK1	84446	broad.mit.edu	37	19	55817686	55817686	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:55817686G>T	ENST00000309383.1	+	17	2234	c.1957G>T	c.(1957-1959)Ggc>Tgc	p.G653C	BRSK1_ENST00000590333.1_Missense_Mutation_p.G669C|BRSK1_ENST00000326848.7_Missense_Mutation_p.G348C	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	653					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.G653C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GGCCAGTGGCGGCCCCTCCGT	0.652000													31	31					1.04594e-18	1.64338e-18	0.006230	1	0
OR51F1	256892	broad.mit.edu	37	11	4790262	4790262	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:4790262C>A	ENST00000380383.1	-	1	906	c.907G>T	c.(907-909)Gta>Tta	p.V303L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V296L			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	296						integral to membrane	olfactory receptor activity	p.V296L(1)		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)		TTTGTTTTTACACTGTCGATG	0.448000													34	70					4.44401e-20	7.09726e-20	0.002522	1	0
SLC9A3	6550	broad.mit.edu	37	5	482784	482784	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:482784C>T	ENST00000264938.3	-	7	1244	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	SLC9A3_ENST00000514375.1_Missense_Mutation_p.G412E	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	412						cell surface|integral to membrane	sodium:hydrogen antiporter activity	p.G412E(1)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GCGCAGGCCCCCGTAGGACAG	0.627000													7	24					0	0	0.003080	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118215342	118215342	+	Splice_Site	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:118215342G>T	ENST00000369230.3	+	5	711	c.565_splice	c.e5+1	p.G189_splice		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	189					lipid catabolic process	extracellular region	triglyceride lipase activity	p.G189W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AAGAATAACTGGTAAGCATGC	0.448000													11	44					0.000673444	0.000755097	0.008291	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765002	77765002	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:77765002G>T	ENST00000521891.2	+	10	6293	c.5845G>T	c.(5845-5847)Gga>Tga	p.G1949*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.G1904*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.G1923*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.G1904*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1904	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1949*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTAGAATGTGGAACATGTGG	0.378000										HNSCC(33;0.089)			25	85					2.21704e-12	3.25187e-12	0.002780	1	0
RBM12	10137	broad.mit.edu	37	20	34242230	34242230	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34242230C>A	ENST00000374114.3	-	3	1278	c.1015G>T	c.(1015-1017)Gta>Tta	p.V339L	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V339L	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	339	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding	p.V339L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTTCGACCTACATGATCTTTC	0.398000													42	291					9.88483e-10	1.35759e-09	0.007835	1	0
ACACB	32	broad.mit.edu	37	12	109637270	109637270	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:109637270G>T	ENST00000338432.7	+	18	2810	c.2691G>T	c.(2689-2691)ctG>ctT	p.L897L	ACACB_ENST00000377848.3_Silent_p.L897L|ACACB_ENST00000377854.5_Silent_p.L897L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	897	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L897L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTACAGTCCTGAGATCCCCCT	0.562000													10	118					0.00244969	0.00266367	0.002450	1	0
VAV3	10451	broad.mit.edu	37	1	108303496	108303496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:108303496A>T	ENST00000370056.4	-	10	1201	c.927T>A	c.(925-927)tgT>tgA	p.C309*	VAV3_ENST00000527011.1_Nonsense_Mutation_p.C309*|VAV3_ENST00000371846.4_Nonsense_Mutation_p.C244*|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	309	DH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.C309*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTTTGGAACATTCCTAAT	0.353000													3	22					0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164767613	164767613	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:164767613A>T	ENST00000264382.3	-	14	1625	c.1563T>A	c.(1561-1563)aaT>aaA	p.N521K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	521	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.N521K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTGTTTACATTACATCCTT	0.279000										HNSCC(35;0.089)			8	45					0	0	0.006214	0	0
SP110	3431	broad.mit.edu	37	2	231036855	231036855	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:231036855C>A	ENST00000258381.6	-	16	1819	c.1742G>T	c.(1741-1743)aGg>aTg	p.R581M	AC009950.2_ENST00000595586.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000454058.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.R581M|AC009950.2_ENST00000600787.1_RNA	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	581	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	p.R581M(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCCTGAAGACCTCTTCATCCT	0.547000													67	127					1.76847e-28	3.02855e-28	0.003610	1	0
CDH23	64072	broad.mit.edu	37	10	73269950	73269950	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:73269950T>A	ENST00000224721.6	+	3	262	c.257T>A	c.(256-258)gTg>gAg	p.V86E	CDH23_ENST00000461841.3_Missense_Mutation_p.V131E|CDH23_ENST00000398809.4_Missense_Mutation_p.V86E|CDH23_ENST00000299366.7_Missense_Mutation_p.V131E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Missense_Mutation_p.V86E	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	86	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.V86E(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACACTGGCGTGGTGTGGCTC	0.617000													7	37					0	0	0.001882	0	0
GABRA2	2555	broad.mit.edu	37	4	46252443	46252443	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:46252443C>A	ENST00000510861.1	-	10	1411	c.1238G>T	c.(1237-1239)aGt>aTt	p.S413I	GABRA2_ENST00000540012.1_Missense_Mutation_p.S418I|GABRA2_ENST00000514090.1_Missense_Mutation_p.S413I|GABRA2_ENST00000356504.1_Missense_Mutation_p.S413I|GABRA2_ENST00000381620.4_Missense_Mutation_p.S413I|GABRA2_ENST00000507069.1_Missense_Mutation_p.S473I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	413					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.S413I(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTGCTAACACTGTTGAAAGT	0.393000													27	208					2.48779e-11	3.57874e-11	0.005443	1	0
DGKK	139189	broad.mit.edu	37	X	50133405	50133405	+	RNA	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:50133405C>A	ENST00000376025.2	-	0	1906							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.W412S(2)|p.W412F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CATCACACTCCATCTGAAATG	0.393000													23	82					3.08376e-08	4.01924e-08	0.003330	1	0
SHANK1	50944	broad.mit.edu	37	19	51217450	51217450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:51217450G>T	ENST00000293441.1	-	4	647	c.629C>A	c.(628-630)tCg>tAg	p.S210*	SHANK1_ENST00000391814.1_Nonsense_Mutation_p.S210*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.S210*	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	210					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.S210*(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCGAATCCGAGTCATGGTA	0.602000													5	48					3.59834e-05	4.2147e-05	0.001168	1	0
OR8H3	390152	broad.mit.edu	37	11	55890117	55890117	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:55890117A>G	ENST00000313472.3	+	1	269	c.269A>G	c.(268-270)aAc>aGc	p.N90S		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N90S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGACTTCCAACTATATTTCC	0.423000													21	693					0	0	0.002780	0	0
SEMA5A	9037	broad.mit.edu	37	5	9122842	9122842	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:9122842G>A	ENST00000382496.5	-	14	2372	c.1707C>T	c.(1705-1707)tcC>tcT	p.S569S		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	569	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.S569S(1)		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						GGCTGTCGCAGGAGCGGGTTC	0.652000													12	75					0	0	0.005443	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	36					0	0	0.001168	0	0
PDE11A	50940	broad.mit.edu	37	2	178704991	178704991	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:178704991C>T	ENST00000286063.5	-	6	1804	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	PDE11A_ENST00000389683.3_Missense_Mutation_p.R52H|PDE11A_ENST00000409504.1_Missense_Mutation_p.R138H|PDE11A_ENST00000358450.4_Missense_Mutation_p.R246H|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.R138H	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	496	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R496H(1)|p.R246H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TGCATCAAAGCGCGGATCCTG	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial				4	72					0	0	0.000602	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908336	131908336	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:131908336G>A	ENST00000359827.3	-	9	3009	c.2047C>T	c.(2047-2049)Cat>Tat	p.H683Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H683Y			Q9HCM2	PLXA4_HUMAN	plexin A4	683	PSI 2.					integral to membrane|intracellular|plasma membrane		p.H683Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTGGGGTCATGGGTGCAGACA	0.592000													4	36					0	0	0.001168	0	0
SASH1	23328	broad.mit.edu	37	6	148855994	148855994	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:148855994A>C	ENST00000367467.3	+	16	2527	c.2052A>C	c.(2050-2052)agA>agC	p.R684S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	684	SAM 1.						protein binding	p.R684S(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGAACACAGAGCTGTTCTCT	0.498000													31	101					0	0	0.002096	0	0
FAM171A1	221061	broad.mit.edu	37	10	15296879	15296879	+	Splice_Site	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:15296879C>A	ENST00000378116.4	-	4	425		c.e4-1			NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1							integral to membrane		p.?(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCGGGCACCTGCAGAGATT	0.552000													8	45					1.06961e-07	1.36298e-07	0.003080	1	0
AE000661.37	0	broad.mit.edu	37	14	22928126	22928126	+	RNA	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:22928126C>T	ENST00000514473.2	-	0	225				TRDJ3_ENST00000390476.1_RNA																							TCGGAACTGGCATCAAACTCT	0.498000													3	18					0	0	0.000602	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140710430	140710430	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140710430C>A	ENST00000517417.1	+	1	179	c.179C>A	c.(178-180)gCa>gAa	p.A60E	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A60E	NM_018912.2	NP_061735.1												p.A60E(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGCTGGCAGATGGCGGA	0.582000													23	140					3.01185e-09	4.05056e-09	0.003954	1	0
DLG4	1742	broad.mit.edu	37	17	7097767	7097767	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:7097767T>A	ENST00000399510.2	-	14	2330	c.1478A>T	c.(1477-1479)cAg>cTg	p.Q493L	DLG4_ENST00000302955.6_Missense_Mutation_p.Q447L|DLG4_ENST00000399506.2_Missense_Mutation_p.Q450L	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	450	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.Q493L(1)|p.Q447L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						GCTCAGGGCCTGGCTCAGGAA	0.597000													7	10					0	0	0.006214	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90577282	90577282	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:90577282G>T	ENST00000551025.1	+	0	5710							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	p.V1425L(1)		NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGTGTAGTGTAGAAAAGAG	0.408000													36	75					4.11147e-13	6.12307e-13	0.003755	1	0
MMP16	4325	broad.mit.edu	37	8	89053712	89053712	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:89053712G>A	ENST00000286614.6	-	10	2082	c.1801C>T	c.(1801-1803)Cgc>Tgc	p.R601C		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	601					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R601C(1)		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						TGCATAGAGCGTTTACAGTAC	0.438000													46	97					0	0	0.003610	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745978	140745978	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:140745978T>C	ENST00000518069.1	+	1	2081	c.2081T>C	c.(2080-2082)gTg>gCg	p.V694A	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1												p.V694A(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATCTTGTGGTGGCAGTG	0.597000													14	370					0	0	0.008871	0	0
ELK3	2004	broad.mit.edu	37	12	96641401	96641401	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:96641401G>T	ENST00000228741.3	+	3	1217	c.891G>T	c.(889-891)ttG>ttT	p.L297F	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	297					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L297F(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAAAGGCTTGGAAATCTCAG	0.617000													11	85					5.16669e-11	7.36689e-11	0.000978	1	0
SUV420H1	51111	broad.mit.edu	37	11	67926156	67926156	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:67926156C>T	ENST00000304363.4	-	11	2010	c.1657G>A	c.(1657-1659)Gac>Aac	p.D553N		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D553N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AGCTTGATGTCAGAGGCCTCC	0.537000													7	355					0	0	0.004482	0	0
MSH4	4438	broad.mit.edu	37	1	76355032	76355032	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:76355032C>T	ENST00000263187.3	+	16	2308	c.2204C>T	c.(2203-2205)aCa>aTa	p.T735I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	735					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	p.T735I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AATTCATCAACATTTATGAAA	0.279000								Mismatch excision repair (MMR)					11	59					0	0	0.001368	0	0
PRDM10	56980	broad.mit.edu	37	11	129785714	129785714	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:129785714C>G	ENST00000358825.5	-	17	2610	c.2379G>C	c.(2377-2379)aaG>aaC	p.K793N	PRDM10_ENST00000423662.2_Missense_Mutation_p.K707N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K789N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K703N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K707N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K763N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	793					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K789N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTGGGTGGTTCTTCAGAATGT	0.542000													20	225					0	0	0.007413	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656286	46656286	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr22:46656286C>T	ENST00000253255.5	-	1	2933	c.2934G>A	c.(2932-2934)ttG>ttA	p.L978L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	978					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.L978L(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCGTCTTCTTCAAGGACCCAT	0.483000													40	134					0	0	0.006230	0	0
ANKRD17	26057	broad.mit.edu	37	4	74008402	74008402	+	Silent	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:74008402C>G	ENST00000358602.4	-	12	2156	c.2040G>C	c.(2038-2040)gtG>gtC	p.V680V	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.V567V|ANKRD17_ENST00000330838.6_Silent_p.V680V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	680					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.V680V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGTAGTTCCACCACTGCCA	0.433000													7	136					0	0	0.003080	0	0
ARID3C	138715	broad.mit.edu	37	9	34623454	34623454	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:34623454C>T	ENST00000378909.2	-	4	925	c.833G>A	c.(832-834)tGc>tAc	p.C278Y		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	278	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.C278*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CAGCTGAGCGCATGCATGCGC	0.642000													57	216					0	0	0.003610	0	0
QARS	5859	broad.mit.edu	37	3	49138082	49138082	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:49138082C>T	ENST00000306125.6	-	11	1239	c.902G>A	c.(901-903)cGt>cAt	p.R301H	QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Missense_Mutation_p.R290H|QARS_ENST00000420147.2_3'UTR			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	301					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	p.R301H(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GTCATCAAAACGCAGAAAACA	0.478000													4	101					0	0	0.009096	0	0
SMARCA4	6597	broad.mit.edu	37	19	11138617	11138617	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:11138617A>G	ENST00000358026.2	+	24	3657	c.3373A>G	c.(3373-3375)Agg>Ggg	p.R1125G	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1125	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.R1125G(2)|p.?(2)		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)				TAAATACCTCAGGCTTGATGG	0.507000			"""F, N, Mis"""		NSCLC								48	172					0	0	0.003610	0	0
TTC6	319089	broad.mit.edu	37	14	38277948	38277948	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:38277948T>C	ENST00000553443.1	+	24	4466	c.4466T>C	c.(4465-4467)cTa>cCa	p.L1489P	TTC6_ENST00000267368.7_Missense_Mutation_p.L123P|TTC6_ENST00000476979.1_Missense_Mutation_p.L123P|TTC6_ENST00000382320.3_Missense_Mutation_p.L203P					tetratricopeptide repeat domain 6									p.L123P(1)|p.L1489P(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		ACTTATAAGCTAGCAATTACA	0.274000													13	343					0	0	0.001855	0	0
P2RY10	27334	broad.mit.edu	37	X	78216969	78216969	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:78216969C>T	ENST00000171757.2	+	4	1232	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	P2RY10_ENST00000544091.1_Missense_Mutation_p.R318C	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	318						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCAACTATCCCGCCATGGCAG	0.443000													57	37					0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803479	185803479	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:185803479C>A	ENST00000302277.6	+	4	3950	c.3356C>A	c.(3355-3357)gCa>gAa	p.A1119E		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1119						intracellular	zinc ion binding	p.A1119E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						gccgcagctgcagGAACCTTT	0.517000													29	38					6.32628e-17	9.8128e-17	0.003610	1	0
ZNF831	128611	broad.mit.edu	37	20	57766576	57766576	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:57766576G>T	ENST00000371030.2	+	1	502	c.502G>T	c.(502-504)Ggt>Tgt	p.G168C		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	168						intracellular	nucleic acid binding|zinc ion binding	p.G168C(1)		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)					GTCCCACACGGGTGAGAGGCC	0.617000													19	264					4.96729e-08	6.42242e-08	0.008871	1	0
GPR115	221393	broad.mit.edu	37	6	47676002	47676002	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:47676002G>A	ENST00000283303.2	+	3	394	c.136G>A	c.(136-138)Gga>Aga	p.G46R	GPR115_ENST00000371220.1_Missense_Mutation_p.G103R|GPR115_ENST00000327753.3_Missense_Mutation_p.G46R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	46					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G46R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ACCCAAGACTGGAAGGATCCA	0.458000													16	41					0	0	0.010504	0	0
OR1C1	26188	broad.mit.edu	37	1	247921241	247921241	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247921241G>T	ENST00000408896.2	-	1	741	c.468C>A	c.(466-468)gcC>gcA	p.A156A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A156A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATGCAGGAGGGCGTGGAGGT	0.502000													7	50					2.7689e-08	3.62834e-08	0.001984	1	0
OR4Q3	441669	broad.mit.edu	37	14	20216282	20216282	+	Silent	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20216282G>A	ENST00000331723.1	+	1	696	c.696G>A	c.(694-696)caG>caA	p.Q232Q		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q232Q(1)|p.Q232H(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACTTCTGCCAGGGCCAGAACA	0.488000													19	202					0	0	0.008871	0	0
TSIX	9383	broad.mit.edu	37	X	73045838	73045838	+	RNA	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:73045838C>G	ENST00000604411.1	+	0	33799				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TATTTGGCCACTACTATGAGC	0.493000													22	77					0	0	0.003330	0	0
ASTL	431705	broad.mit.edu	37	2	96799710	96799710	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:96799710T>C	ENST00000342380.2	-	4	330	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	111					proteolysis		metalloendopeptidase activity|zinc ion binding	p.K111E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCACCGTACTTGCTGGAGAGC	0.582000													21	36					0	0	0.004656	0	0
APBA2	321	broad.mit.edu	37	15	29346679	29346679	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr15:29346679C>A	ENST00000558402.1	+	5	1191	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	APBA2_ENST00000558259.1_Missense_Mutation_p.P198T|APBA2_ENST00000411764.1_Missense_Mutation_p.P198T|APBA2_ENST00000561069.1_Missense_Mutation_p.P198T|APBA2_ENST00000558330.1_Missense_Mutation_p.P198T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	198	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding	p.P198T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGACTACTACCCCGAGGAGGC	0.632000													10	23					4.68919e-08	6.07094e-08	0.008291	1	0
NUGGC	389643	broad.mit.edu	37	8	27898648	27898648	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:27898648C>T	ENST00000413272.2	-	13	1673	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	NUGGC_ENST00000341513.6_Missense_Mutation_p.A511T	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.A511T(2)									TCCATGCAGGCGAAGCACTGT	0.567000													3	7					0	0	0.004672	0	0
CSMD3	114788	broad.mit.edu	37	8	113323244	113323244	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:113323244C>A	ENST00000297405.5	-	50	8092	c.7848G>T	c.(7846-7848)ggG>ggT	p.G2616G	CSMD3_ENST00000343508.3_Silent_p.G2576G|CSMD3_ENST00000352409.3_Silent_p.G2546G|CSMD3_ENST00000455883.2_Silent_p.G2512G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2616	Sushi 14.					integral to membrane|plasma membrane		p.G2576G(1)|p.G2616G(1)		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						ATGCATGATACCCATAGGAAG	0.463000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			43	81					1.68508e-10	2.37477e-10	0.009718	1	0
RASAL2	9462	broad.mit.edu	37	1	178426890	178426890	+	Silent	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:178426890G>T	ENST00000448150.3	+	14	3248	c.2430G>T	c.(2428-2430)ctG>ctT	p.L810L	RASAL2_ENST00000367649.3_Silent_p.L821L|RASAL2_ENST00000462775.1_Silent_p.L680L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	680					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.L821L(1)|p.L810L(1)|p.L680L(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CATTATTGCTGGTTCAGCAAG	0.448000													17	160					3.41278e-10	4.76807e-10	0.004990	1	0
EPHA1	2041	broad.mit.edu	37	7	143096454	143096454	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:143096454C>T	ENST00000275815.3	-	5	974	c.888G>A	c.(886-888)acG>acA	p.T296T		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	296	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T296T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCTGGGGGCACGTGAGACAAT	0.602000													6	58					0	0	0.001984	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125175123	125175123	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:125175123G>A	ENST00000431078.1	+	4	849	c.485G>A	c.(484-486)aGt>aAt	p.S162N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	162	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.S162N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGAATCCCAGTGGGAAGATT	0.502000													16	26					0	0	0.004007	0	0
SYTL5	94122	broad.mit.edu	37	X	37984667	37984667	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chrX:37984667T>A	ENST00000357972.5	+	16	2504	c.1958T>A	c.(1957-1959)aTa>aAa	p.I653K	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.I653K|SYTL5_ENST00000456733.2_Missense_Mutation_p.I675K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	653	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	p.I653K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCCCAGGATATAAAGAATGTT	0.433000													27	68					0	0	0.006320	0	0
EVX1	2128	broad.mit.edu	37	7	27284799	27284799	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:27284799G>T	ENST00000496902.4	+	2	1046	c.560G>T	c.(559-561)cGc>cTc	p.R187L	EVX1_ENST00000535619.1_Missense_Mutation_p.R5L|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.A169S			P49640	EVX1_HUMAN	even-skipped homeobox 1	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R187L(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGTCGTTACCGCACCGCCTTC	0.662000													22	84					1.55469e-16	2.40383e-16	0.003330	1	0
NLRP14	338323	broad.mit.edu	37	11	7079669	7079669	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:7079669T>G	ENST00000299481.4	+	8	2967	c.2621T>G	c.(2620-2622)cTg>cGg	p.L874R		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	874					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.L874R(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAATGTACTCTGAAGAGCCTT	0.343000													6	158					0	0	0.004482	0	0
OR5H14	403273	broad.mit.edu	37	3	97868307	97868307	+	Silent	SNP	C	C	A	rs146669592		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:97868307C>A	ENST00000437310.1	+	1	138	c.78C>A	c.(76-78)ccC>ccA	p.P26P		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.(=)(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAAATACCCCTGTTCCTGG	0.418000													43	270					2.43468e-25	4.133e-25	0.003610	1	0
ZNF658	26149	broad.mit.edu	37	9	40773112	40773112	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr9:40773112T>C	ENST00000602553.1	-	5	2457	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	ZNF658_ENST00000377626.3_Silent_p.K721K|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K721K(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGCAAATGTTTTCTCACATT	0.393000													9	375					0	0	0.001855	0	0
PDLIM4	8572	broad.mit.edu	37	5	131606626	131606626	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:131606626A>T	ENST00000253754.3	+	4	410	c.346A>T	c.(346-348)Agc>Tgc	p.S116C	PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.S116C	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	116							protein binding|zinc ion binding	p.S116C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAACAACCAGCAGGCGGCC	0.622000													25	100					0	0	0.002096	0	0
FAT4	79633	broad.mit.edu	37	4	126412916	126412916	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:126412916A>G	ENST00000394329.3	+	17	14952	c.14939A>G	c.(14938-14940)tAt>tGt	p.Y4980C	FAT4_ENST00000335110.5_Missense_Mutation_p.Y3221C	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4980					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y4980C(1)|p.Y4923C(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAGAACAGTATGTGTGAAGT	0.373000													3	21					0	0	0.009096	0	0
ST18	9705	broad.mit.edu	37	8	53084677	53084677	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:53084677G>C	ENST00000276480.7	-	10	1427	c.744C>G	c.(742-744)aaC>aaG	p.N248K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N248K(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AATCACACCTGTTCTCACAAG	0.443000													29	144					0	0	0.009535	0	0
MROH8	140699	broad.mit.edu	37	20	35783522	35783522	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:35783522C>G	ENST00000400441.3	-	9	1017	c.1018G>C	c.(1018-1020)Gcc>Ccc	p.A340P	MROH8_ENST00000441008.2_Missense_Mutation_p.A326P|MROH8_ENST00000217333.8_Intron					maestro heat-like repeat family member 8									p.R366R(2)|p.A340P(1)									CTGGCCGTGGCCCGTTCCCGC	0.502000													9	157					0	0	0.008291	0	0
OR10A2	341276	broad.mit.edu	37	11	6891892	6891892	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:6891892C>A	ENST00000307322.4	+	1	969	c.907C>A	c.(907-909)Cca>Aca	p.P303T		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P303T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AAACTGTATCCCATAGACCTT	0.453000													47	103					3.54909e-21	5.76282e-21	0.002852	1	0
KIF21A	55605	broad.mit.edu	37	12	39752118	39752118	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:39752118T>A	ENST00000395670.3	-	8	1496	c.1077A>T	c.(1075-1077)ttA>ttT	p.L359F	KIF21A_ENST00000361418.5_Missense_Mutation_p.L359F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L359F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L359F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L359F			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	359					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L359F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCAGGGTGTTTAACGTTTCCA	0.393000													48	357					0	0	0.003610	0	0
OR2W5	441932	broad.mit.edu	37	1	247654812	247654812	+	RNA	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:247654812G>T	ENST00000522351.1	+	0	443							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R128L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GCCGTCTGCCGGTCCCTGCAC	0.587000													63	58					1.1397e-45	1.99038e-45	0.003610	1	0
SH2D3A	10045	broad.mit.edu	37	19	6755233	6755233	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:6755233C>T	ENST00000245908.6	-	5	859	c.590G>A	c.(589-591)aGt>aAt	p.S197N	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.S75N	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	197					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.S197N(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGCCCTGAGACTGTCGGCAAC	0.637000													37	121					0	0	0.005524	0	0
PUS7L	83448	broad.mit.edu	37	12	44130285	44130285	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:44130285C>G	ENST00000416848.2	-	7	2112	c.1624G>C	c.(1624-1626)Gca>Cca	p.A542P	PUS7L_ENST00000344862.5_Missense_Mutation_p.A542P|PUS7L_ENST00000431332.3_Missense_Mutation_p.A229P|PUS7L_ENST00000551923.1_Missense_Mutation_p.A542P	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	542	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	p.A542P(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TAAGATACTGCCTCATTCCAA	0.428000													8	183					0	0	0.003080	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661380	176661380	+	Silent	SNP	T	T	C			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:176661380T>C	ENST00000367662.3	+	6	3714	c.2550T>C	c.(2548-2550)ccT>ccC	p.P850P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	850					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.P850P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCATTCCACCTATGGTCATCG	0.517000													46	253					0	0	0.003610	0	0
OR8B2	26595	broad.mit.edu	37	11	124253151	124253151	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr11:124253151A>T	ENST00000375013.2	-	1	107	c.89T>A	c.(88-90)cTg>cAg	p.L30Q		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		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)		CACTAGAAACAGGAAAAAGAG	0.418000													68	265					0	0	0.003610	0	0
RBM12	10137	broad.mit.edu	37	20	34241207	34241207	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:34241207A>G	ENST00000374114.3	-	3	2301	c.2038T>C	c.(2038-2040)Tca>Cca	p.S680P	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.S680P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.S680P	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	680	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding	p.S680P(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTTATTGCTGAACCAGGCAGT	0.597000													32	69					0	0	0.009535	0	0
NR3C2	4306	broad.mit.edu	37	4	149357469	149357469	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:149357469T>A	ENST00000355292.3	-	2	906	c.544A>T	c.(544-546)Aaa>Taa	p.K182*	NR3C2_ENST00000342437.4_Nonsense_Mutation_p.K182*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.K182*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.K182*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.K182*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.K182*			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	182	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.K182*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ATAGGGCTTTTAACAACGGCG	0.512000													5	114					0	0	0.000602	0	0
PACS2	23241	broad.mit.edu	37	14	105818726	105818726	+	Silent	SNP	A	A	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:105818726A>G	ENST00000447393.1	+	3	394	c.219A>G	c.(217-219)cgA>cgG	p.R73R	PACS2_ENST00000430725.2_Silent_p.R6R|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Silent_p.R73R|PACS2_ENST00000458164.2_Silent_p.R73R	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	73					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		p.R73R(1)		endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCTCCAAACGAATCCTGCGGT	0.532000											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	221					0	0	0.006122	0	0
ZNF37A	7587	broad.mit.edu	37	10	38407520	38407520	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:38407520G>T	ENST00000351773.3	+	8	2271	c.1441G>T	c.(1441-1443)Gcc>Tcc	p.A481S	ZNF37A_ENST00000361085.4_Missense_Mutation_p.A481S	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A481S(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TCAGAAGTCAGCCCTAATTGT	0.408000													17	96					8.60227e-14	1.29101e-13	0.004007	1	0
TMX4	56255	broad.mit.edu	37	20	7963259	7963259	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:7963259C>T	ENST00000246024.2	-	8	904	c.689G>A	c.(688-690)cGg>cAg	p.R230Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	230	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane		p.R230Q(1)		endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						CTCTGATCTCCGATTCTGCTC	0.393000													8	72					0	0	0.008291	0	0
EPS15L1	58513	broad.mit.edu	37	19	16535930	16535930	+	Silent	SNP	C	C	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr19:16535930C>A	ENST00000602009.1	-	3	1189	c.294G>T	c.(292-294)ggG>ggT	p.G98G	EPS15L1_ENST00000455140.2_Silent_p.G252G|EPS15L1_ENST00000248070.6_Silent_p.G252G|EPS15L1_ENST00000535753.2_Silent_p.G252G|EPS15L1_ENST00000597937.1_Silent_p.G252G|EPS15L1_ENST00000594975.1_Silent_p.G252G			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	252	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	p.G252G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GGGACAGGCTCCCTGTGCTGT	0.657000													21	32					1.57351e-24	2.64798e-24	0.003755	1	0
DLG5	9231	broad.mit.edu	37	10	79571774	79571774	+	Silent	SNP	C	C	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:79571774C>T	ENST00000372391.2	-	22	4235	c.4230G>A	c.(4228-4230)gcG>gcA	p.A1410A	DLG5_ENST00000372388.2_Silent_p.A1070A|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1410	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	p.A1410A(1)		breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGATGAGCCGCGCCTGCTGCT	0.652000													12	100					0	0	0.002450	0	0
GRIK3	2899	broad.mit.edu	37	1	37356618	37356619	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:37356618_37356619insA	ENST00000373091.3	-	2	210_211	c.194_195insT	c.(193-195)aatfs	p.N65fs	GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.N65fs	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	65					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGATGATGTTGGCAGAAAA	0.500													35	306	---	---	---	---					
RHBG	57127	broad.mit.edu	37	1	156351938	156351938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr1:156351938delC	ENST00000400992.2	+	7	1330	c.962delC	c.(961-963)gcfs	p.A321fs	RHBG_ENST00000451864.2_Frame_Shift_Del_p.A275fs|RHBG_ENST00000537040.1_Frame_Shift_Del_p.P186fs|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000255013.3_Frame_Shift_Del_p.A284fs|RHBG_ENST00000368246.2_Frame_Shift_Del_p.A353fs|RHBG_ENST00000368249.1_Frame_Shift_Del_p.A353fs			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	353					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTCCTGGGGGCCCTCCTGGGG	0.557													42	201	---	---	---	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr2:37454908delT	ENST00000234170.5	-	2	1573	c.1428delA	c.(1426-1428)aafs	p.K476fs		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													7	99	---	---	---	---					
PXK	54899	broad.mit.edu	37	3	58383335	58383335	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:58383335delT	ENST00000463280.1	+	9	980	c.889delT	c.(889-891)tgfs	p.L297fs	PXK_ENST00000484288.1_Frame_Shift_Del_p.L330fs|PXK_ENST00000356151.2_Frame_Shift_Del_p.L330fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.L193fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.L313fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.L313fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.L297fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.L313fs			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	330	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		TCCACAGACATTGGAAAGTGT	0.547													28	173	---	---	---	---					
GPR27	2850	broad.mit.edu	37	3	71804249	71804249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:71804249delG	ENST00000304411.2	+	1	1049	c.1049delG	c.(1048-1050)agfs	p.R350fs		NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	350						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GACTGCTTCAGGGCCCAGTTC	0.652													7	17	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87039828	87039828	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:87039828delG	ENST00000398399.2	-	1	429	c.66delC	c.(64-66)ccfs	p.P22fs	VGLL3_ENST00000383698.3_Frame_Shift_Del_p.P22fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCGCTGCCATGGGGTTGGGCA	0.692													8	36	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	222	---	---	---	---					
TXK	7294	broad.mit.edu	37	4	48073614	48073614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:48073614delT	ENST00000264316.4	-	14	1520	c.1435delA	c.(1435-1437)ttfs	p.I479fs	TXK_ENST00000507351.1_Frame_Shift_Del_p.I134fs	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	479	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CCTTCAGAAATAGCTTCCACG	0.398													63	182	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146059084	146059085	+	Frame_Shift_Ins	INS	-	-	T	rs138021807	by1000genomes	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr4:146059084_146059085insT	ENST00000454497.2	-	21	2784_2785	c.2647_2648insA	c.(2647-2649)ggcfs	p.G883fs	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Frame_Shift_Ins_p.G948fs	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	947							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AGCCAATGCCGTATCTGCCTTT	0.520													33	194	---	---	---	---					
ROPN1L	83853	broad.mit.edu	37	5	10442407	10442408	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr5:10442407_10442408insG	ENST00000503804.1	+	2	649_650	c.128_129insG	c.(127-129)gggfs	p.G43fs	ROPN1L_ENST00000274134.4_Frame_Shift_Ins_p.G43fs|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	43	RIIa.				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGGTGGTCCGCGGGGTAAGCGC	0.683													9	67	---	---	---	---					
EYS	346007	broad.mit.edu	37	6	66112422	66112422	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr6:66112422delG	ENST00000503581.1	-	7	1670	c.1133delC	c.(1132-1134)ctfs	p.P378fs	EYS_ENST00000370621.3_Frame_Shift_Del_p.P378fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000370616.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000370618.3_Frame_Shift_Del_p.P378fs|EYS_ENST00000342421.5_Frame_Shift_Del_p.P378fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	378	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTCCTCAAAGGAAATGACTC	0.279													7	29	---	---	---	---					
ZNF679	168417	broad.mit.edu	37	7	63727024	63727024	+	Frame_Shift_Del	DEL	C	C	-	rs111583875		TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:63727024delC	ENST00000421025.1	+	5	1282	c.1013delC	c.(1012-1014)acfs	p.T338fs	ZNF679_ENST00000255746.4_Frame_Shift_Del_p.T338fs	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGCTCCTCAACCCTTAAGAAA	0.393													7	39	---	---	---	---					
AKR1B1	231	broad.mit.edu	37	7	134134483	134134483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr7:134134483delC	ENST00000285930.4	-	4	497	c.418delG	c.(418-420)acfs	p.D140fs	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	140					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GCCCACGTGTCCAGAATGTTG	0.458													9	327	---	---	---	---					
DLGAP2	9228	broad.mit.edu	37	8	1616835	1616835	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr8:1616835delC	ENST00000421627.2	+	6	2045	c.1911delC	c.(1909-1911)atfs	p.I637fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	716					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCTCCTCCATCGGGATTCAGG	0.632													2	4	---	---	---	---					
MYO3A	53904	broad.mit.edu	37	10	26463295	26463295	+	Frame_Shift_Del	DEL	A	A	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr10:26463295delA	ENST00000265944.5	+	30	4268	c.4102delA	c.(4102-4104)agfs	p.K1368fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1368	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGTTGAGGAAGGACAAGAT	0.433													76	160	---	---	---	---					
CPNE8	144402	broad.mit.edu	37	12	39087640	39087640	+	Splice_Site	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:39087640delC	ENST00000331366.5	-	15	1058	c.961_splice	c.e15-1	p.G321_splice	CPNE8_ENST00000538596.2_5'UTR|CPNE8_ENST00000360449.3_Splice_Site_p.G309_splice	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	321	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AGCAGGGTTGCCTGATGACAG	0.348													31	80	---	---	---	---					
DNAJC14	85406	broad.mit.edu	37	12	56221691	56221699	+	In_Frame_Del	DEL	CCTGCCTGT	CCTGCCTGT	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr12:56221691_56221699delCCTGCCTGT	ENST00000357606.3	-	3	1033_1041	c.744_752delACAGGCAGG	c.(742-753)ggc>gg	p.GQAG248del	DNAJC14_ENST00000317287.5_In_Frame_Del_p.GQAG248del|DNAJC14_ENST00000317269.3_In_Frame_Del_p.GQAG248del			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	248					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						CCACCAAAAGCCTGCCTGTCCAAGTTGAC	0.536													9	111	---	---	---	---					
OR4Q3	441669	broad.mit.edu	37	14	20216093	20216094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:20216093_20216094insT	ENST00000331723.1	+	1	507_508	c.507_508insT	c.(505-510)ttgtggfs	p.LW169fs		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTGCCTTTCTGTGGGCCCAA	0.510													13	98	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38724524	38724525	+	Frame_Shift_Ins	INS	-	-	A			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr14:38724524_38724525insA	ENST00000342213.2	-	1	1049_1050	c.703_704insT	c.(703-705)ggafs	p.G235fs		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	235						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGTTTGTCCCAGCGAGCGCCG	0.629													24	929	---	---	---	---					
CDH11	1009	broad.mit.edu	37	16	64984878	64984878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:64984878delC	ENST00000394156.3	-	12	2139	c.1686delG	c.(1684-1686)cgfs	p.R562fs	CDH11_ENST00000566827.1_Frame_Shift_Del_p.R436fs|CDH11_ENST00000268603.4_Frame_Shift_Del_p.R562fs			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTGCTTCTGCCGACTGAACC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			15	41	---	---	---	---					
JPH3	57338	broad.mit.edu	37	16	87678356	87678356	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr16:87678356delG	ENST00000284262.2	+	2	1117	c.875delG	c.(874-876)tgfs	p.W292fs		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	292					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GTGGGCGAGTGGAAGAACGAC	0.672													17	93	---	---	---	---					
GAS2L2	246176	broad.mit.edu	37	17	34079564	34079564	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:34079564delG	ENST00000254466.6	-	1	333	c.306delC	c.(304-306)gcfs	p.A103fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.A103fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	103	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGGCTGGGCGGCCCCATTGC	0.617													54	159	---	---	---	---					
ACACA	31	broad.mit.edu	37	17	35615290	35615290	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:35615290delG	ENST00000353139.5	-	13	1987	c.1506delC	c.(1504-1506)gcfs	p.A502fs	ACACA_ENST00000394406.2_Frame_Shift_Del_p.A465fs|ACACA_ENST00000360679.3_Frame_Shift_Del_p.A407fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.A387fs	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	465	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GAATCCCCATGGCAATCTGAA	0.363													26	76	---	---	---	---					
HOXB3	3213	broad.mit.edu	37	17	46628126	46628126	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr17:46628126delG	ENST00000470495.1	-	2	2313	c.866delC	c.(865-867)cgfs	p.P289fs	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P289fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P216fs|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.P155fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P289fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P216fs|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P157fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P157fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P289fs|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	289					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGGTGGGGACGGGCTCTCGTA	0.677											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	161	---	---	---	---					
ALPK2	115701	broad.mit.edu	37	18	56204617	56204617	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr18:56204617delG	ENST00000361673.3	-	5	3015	c.2802delC	c.(2800-2802)ccfs	p.P934fs	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	934							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTGAGTTGCTGGGGCTTGGCT	0.517													10	47	---	---	---	---					
BPIFB4	149954	broad.mit.edu	37	20	31671619	31671619	+	Frame_Shift_Del	DEL	G	G	-	rs2424943	byFrequency	TCGA-05-4432-01A-01D-1265-08	TCGA-05-4432-10A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e	eb55c8bb-5d1b-4274-9e54-adba5cd91626	g.chr20:31671619delG	ENST00000375483.3	+	3	616	c.616delG	c.(616-618)ggfs	p.G207fs		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	207	Gly-rich.					cytoplasm|extracellular region	lipid binding										TCTTGGAGGAGGGGGTGTCCT	0.652													10	152	---	---	---	---					
