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
CYYR1	116159	broad.mit.edu	37	21	27852642	27852642	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr21:27852642G>A	ENST00000299340.4	-	3	626	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.R95C	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	95			R -> H (in dbSNP:rs35253087).			integral to membrane		p.R95C(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						ATGCCCACGCGGGTCGCCCTG	0.498000													40	150					0	0	0.008740	0	0
RYR1	6261	broad.mit.edu	37	19	39025446	39025446	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:39025446C>T	ENST00000355481.4	+	78	11462	c.11331C>T	c.(11329-11331)atC>atT	p.I3777I	RYR1_ENST00000360985.3_Silent_p.I3782I|RYR1_ENST00000359596.3_Silent_p.I3782I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3782					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.I3782I(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGCAGATGATCAGTGCCTGCA	0.602000													3	24					0	0	0.009096	0	0
OR52M1	119772	broad.mit.edu	37	11	4566720	4566720	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:4566720G>T	ENST00000360213.1	+	1	300	c.300G>T	c.(298-300)ttG>ttT	p.L100F		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L100F(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTGCTTGGGCCAAATGT	0.517000													19	142					6.33239e-15	8.31902e-15	0.010504	1	0
PTPN6	5777	broad.mit.edu	37	12	7060825	7060825	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:7060825G>T	ENST00000456013.1	+	2	304	c.62G>T	c.(61-63)cGa>cTa	p.R21L	PTPN6_ENST00000399448.1_Missense_Mutation_p.R23L|PTPN6_ENST00000318974.9_Missense_Mutation_p.R21L|PTPN6_ENST00000447931.2_Intron	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	21	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R21L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CTCAAGGGCCGAGGTGTCCAC	0.672000													12	86					0.000151284	0.000168934	0.001855	1	0
CHMP4B	128866	broad.mit.edu	37	20	32440005	32440005	+	Silent	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr20:32440005A>G	ENST00000217402.2	+	4	771	c.606A>G	c.(604-606)aaA>aaG	p.K202K		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	202					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.K202K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TACCATCAAAACCCGGTGAGT	0.493000													56	259					0	0	0.014410	0	0
TDP1	55775	broad.mit.edu	37	14	90499508	90499508	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:90499508C>G	ENST00000335725.4	+	16	1953	c.1703C>G	c.(1702-1704)gCc>gGc	p.A568G	TDP1_ENST00000555880.1_Intron|TDP1_ENST00000357382.3_Missense_Mutation_p.A329G|TDP1_ENST00000393454.2_Missense_Mutation_p.A568G|TDP1_ENST00000393452.3_Silent_p.G583G	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	568					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.A568G(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GAGCCAATGGCCACCTTTCCT	0.453000								Repair of DNA-protein crosslinks					17	18					0	0	0.007413	0	0
CCDC178	374864	broad.mit.edu	37	18	30913186	30913186	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr18:30913186C>A	ENST00000383096.3	-	10	1013	c.831G>T	c.(829-831)caG>caT	p.Q277H	CCDC178_ENST00000300227.8_Missense_Mutation_p.Q277H|CCDC178_ENST00000579947.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000583930.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000403303.1_Missense_Mutation_p.Q277H|CCDC178_ENST00000406524.2_Missense_Mutation_p.Q277H					coiled-coil domain containing 178									p.Q277H(2)									GTTCCTGATTCTGCTTAGAGT	0.323000													29	57					1.06801e-11	1.35013e-11	0.009535	1	0
VPS41	27072	broad.mit.edu	37	7	38791781	38791781	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:38791781C>T	ENST00000310301.4	-	22	1975	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	VPS41_ENST00000395969.2_Missense_Mutation_p.E616K	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	641					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	p.E641K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTTACCTTTTCAAGTGGGCAA	0.423000													5	275					0	0	0.000602	0	0
FMN2	56776	broad.mit.edu	37	1	240371640	240371640	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:240371640G>A	ENST00000319653.9	+	5	3758	c.3528G>A	c.(3526-3528)ccG>ccA	p.P1176P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1176	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.P1319P(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)			TACCCCCTCCGCCCCCTCTAC	0.687000													7	8					0	0	0.003080	0	0
SYTL4	94121	broad.mit.edu	37	X	99942191	99942191	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:99942191T>A	ENST00000455616.1	-	12	1403	c.1057A>T	c.(1057-1059)Aac>Tac	p.N353Y	SYTL4_ENST00000263033.5_Missense_Mutation_p.N353Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.N353Y|SYTL4_ENST00000454200.2_Missense_Mutation_p.N355Y|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.N353Y			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	353					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	p.N353Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAAAGATGTTCCCGAAATCA	0.527000													11	69					0	0	0.001855	0	0
TBX21	30009	broad.mit.edu	37	17	45822618	45822618	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:45822618G>C	ENST00000177694.1	+	6	1705	c.1494G>C	c.(1492-1494)aaG>aaC	p.K498N		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	498					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K498N(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAGACTCTAAGAGGAGGCGCG	0.587000													12	96					0	0	0.010729	0	0
GPR158	57512	broad.mit.edu	37	10	25887829	25887829	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr10:25887829A>G	ENST00000376351.3	+	11	3633	c.3274A>G	c.(3274-3276)Act>Gct	p.T1092A	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1092						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1092A(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						GATTTCCAAGACTCCAGTTCT	0.517000													88	54					0	0	0.014410	0	0
FMO4	2329	broad.mit.edu	37	1	171293296	171293296	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:171293296C>T	ENST00000367749.3	+	5	671	c.341C>T	c.(340-342)aCg>aTg	p.T114M	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	114					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.T114M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCAGCATAACGAAGCGTCCA	0.463000													121	490					0	0	0.014410	0	0
STK36	27148	broad.mit.edu	37	2	219563551	219563551	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:219563551G>A	ENST00000295709.3	+	26	3563	c.3284G>A	c.(3283-3285)aGc>aAc	p.S1095N	STK36_ENST00000440309.1_Missense_Mutation_p.S1095N|STK36_ENST00000392105.3_Missense_Mutation_p.S1074N|STK36_ENST00000392106.2_Missense_Mutation_p.S1074N	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	1095					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CTGTCTCCCAGCCACTTGTCC	0.587000													3	77					0	0	0.004672	0	0
KCNJ4	3761	broad.mit.edu	37	22	38824024	38824024	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr22:38824024C>T	ENST00000303592.3	-	2	372	c.114G>A	c.(112-114)aaG>aaA	p.K38K		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	38					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	p.K38K(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					AGCGCTGCGACTTGTTGCTCA	0.627000													114	158					0	0	0.014410	0	0
LRRC40	55631	broad.mit.edu	37	1	70625095	70625095	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:70625095C>T	ENST00000370952.3	-	10	1217	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	380								p.A380I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTCTCAGTAGCAGACTCACTT	0.303000													4	38					0	0	0.000602	0	0
EME2	197342	broad.mit.edu	37	16	1825151	1825151	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:1825151G>A	ENST00000307394.7	+	4	587	c.587G>A	c.(586-588)tGc>tAc	p.C196Y	EME2_ENST00000568449.1_Intron			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	190					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	p.C196*(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						TCACTCTCATGCCCACAGCAG	0.672000								Direct reversal of damage;Homologous recombination					17	133					0	0	0.008871	0	0
RANBP17	64901	broad.mit.edu	37	5	170319516	170319516	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:170319516G>A	ENST00000523189.1	+	4	546	c.382G>A	c.(382-384)Gtc>Atc	p.V128I		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	128					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.V128I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACCAATTTGTCTTCAGAGA	0.388000			T	TRD@	ALL								61	156					0	0	0.014410	0	0
MGA	23269	broad.mit.edu	37	15	41988517	41988517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:41988517G>T	ENST00000219905.7	+	3	1490	c.1309G>T	c.(1309-1311)Gaa>Taa	p.E437*	MGA_ENST00000570161.1_Nonsense_Mutation_p.E437*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E437*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E437*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E437*|MGA_ENST00000568630.1_3'UTR	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	437						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.E437*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGACAACCCAGAAGCTGACCA	0.408000													28	31					1.08312e-15	1.43228e-15	0.009535	1	0
CLEC4F	165530	broad.mit.edu	37	2	71036905	71036905	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:71036905C>G	ENST00000272367.2	-	6	1700	c.1624G>C	c.(1624-1626)Gat>Cat	p.D542H	CLEC4F_ENST00000426626.1_Missense_Mutation_p.D542H	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	542	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.D542H(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGTGTCCCATCTGTCCAGCGC	0.552000													42	85					0	0	0.009718	0	0
RNF148	378925	broad.mit.edu	37	7	122342609	122342609	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:122342609A>T	ENST00000434824.1	-	1	412	c.196T>A	c.(196-198)Tct>Act	p.S66T	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	66	PA.					integral to membrane	zinc ion binding	p.S66T(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TCCAGAGGAGAATGATTCCCG	0.468000													16	108					0	0	0.004007	0	0
NPAS4	266743	broad.mit.edu	37	11	66189606	66189606	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:66189606G>T	ENST00000311034.2	+	2	367	c.191G>T	c.(190-192)gGc>gTc	p.G64V		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	64					transcription, DNA-dependent		DNA binding|signal transducer activity	p.G64V(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCTCTGGCGGGCCCCACGGGG	0.572000													11	65					1.61879e-10	1.99618e-10	0.013537	1	0
DNMT1	1786	broad.mit.edu	37	19	10252742	10252742	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:10252742A>C	ENST00000340748.4	-	29	3458	c.3223T>G	c.(3223-3225)Tac>Gac	p.Y1075D	DNMT1_ENST00000540357.1_Missense_Mutation_p.Y1075D|DNMT1_ENST00000359526.4_Missense_Mutation_p.Y1091D|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1075	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.Y1075D(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCCATGGAGTACACCTGGACG	0.632000													3	25					0	0	0.009096	0	0
POLR2B	5431	broad.mit.edu	37	4	57889908	57889908	+	Silent	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr4:57889908T>C	ENST00000381227.1	+	21	3260	c.2847T>C	c.(2845-2847)taT>taC	p.Y949Y	POLR2B_ENST00000441246.2_Silent_p.Y942Y|POLR2B_ENST00000431623.2_Silent_p.Y874Y|POLR2B_ENST00000314595.5_Silent_p.Y949Y			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	949					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.Y949Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTATTCAGTATAGACAAGAGG	0.333000													49	99					0	0	0.014410	0	0
MAPT	4137	broad.mit.edu	37	17	44061120	44061120	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:44061120A>C	ENST00000344290.5	+	6	1272	c.950A>C	c.(949-951)cAc>cCc	p.H317P	MAPT_ENST00000574436.1_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.H317P|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.H317P|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.H317P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	317					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton	p.H317P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGCAGGCGCACTCGGAGGAG	0.647000													11	90					0	0	0.013537	0	0
LCMT1	51451	broad.mit.edu	37	16	25175965	25175965	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:25175965C>G	ENST00000399069.3	+	7	771	c.616C>G	c.(616-618)Cca>Gca	p.P206A	LCMT1_ENST00000380966.4_Missense_Mutation_p.P151A|LCMT1_ENST00000572869.1_3'UTR	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	206							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	p.P206A(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTACATGACTCCAGAGCAGTC	0.438000													4	108					0	0	0.009096	0	0
ARID3B	10620	broad.mit.edu	37	15	74883593	74883593	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:74883593G>A	ENST00000346246.5	+	6	1214	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	328	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R328Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GAGGGCCGGCGGCCCAGCTAC	0.617000													22	155					0	0	0.005443	0	0
NGEF	25791	broad.mit.edu	37	2	233757737	233757737	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:233757737C>T	ENST00000264051.3	-	7	1291	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	NGEF_ENST00000373552.4_Missense_Mutation_p.R246Q|NGEF_ENST00000539537.1_Missense_Mutation_p.R61Q	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	338	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R338Q(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTCCTCCATCCGGTGCTCCAG	0.592000													24	69					0	0	0.008361	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68274475	68274475	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:68274475G>T	ENST00000347230.4	-	5	664	c.526C>A	c.(526-528)Ctt>Att	p.L176I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.L176I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	176					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.L176I(1)|p.L176V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCCTCCTCAAGCAGGAGCTCC	0.607000													31	182					6.70999e-13	8.59049e-13	0.004289	1	0
PARP14	54625	broad.mit.edu	37	3	122446793	122446793	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:122446793C>T	ENST00000474629.2	+	16	5342	c.5076C>T	c.(5074-5076)gtC>gtT	p.V1692V		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1692	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.V1529V(1)|p.V1692V(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGCCACACGTCAATCGAAATG	0.502000													44	20					0	0	0.014410	0	0
TBX22	50945	broad.mit.edu	37	X	79286464	79286464	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:79286464G>A	ENST00000442340.1	+	9	1547	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	TBX22_ENST00000373294.5_Missense_Mutation_p.D473N|TBX22_ENST00000373296.3_Missense_Mutation_p.D473N|TBX22_ENST00000373291.1_Missense_Mutation_p.D353N	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	473					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.D473N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCCTTCCTATGACTTTTATAG	0.378000													12	101					0	0	0.013537	0	0
SERPINA11	256394	broad.mit.edu	37	14	94914835	94914835	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:94914835C>A	ENST00000334708.3	-	2	341	c.277G>T	c.(277-279)Gct>Tct	p.A93S	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	93					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A275S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAGGTGTTAGCTTGGGCCCCA	0.597000													22	129					8.10497e-08	9.58294e-08	0.010504	1	0
SPIRE1	56907	broad.mit.edu	37	18	12546780	12546780	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr18:12546780C>G	ENST00000409402.4	-	3	763	c.496G>C	c.(496-498)Gct>Cct	p.A166P	SPIRE1_ENST00000383356.2_Missense_Mutation_p.A7P|SPIRE1_ENST00000309836.5_Intron|SPIRE1_ENST00000453447.2_Missense_Mutation_p.A46P|SPIRE1_ENST00000410092.3_Missense_Mutation_p.A166P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	166	KIND.					cytoskeleton|perinuclear region of cytoplasm	actin binding	p.A166P(1)|p.A7P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CTACCGTCAGCTTCCACCGTG	0.448000													31	192					0	0	0.013726	0	0
CD200	4345	broad.mit.edu	37	3	112068659	112068659	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:112068659G>C	ENST00000315711.8	+	5	852	c.795G>C	c.(793-795)caG>caC	p.Q265H	CD200_ENST00000473539.1_Missense_Mutation_p.Q290H|CD200_ENST00000383681.3_Missense_Mutation_p.Q191H	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	265					regulation of immune response	integral to plasma membrane		p.Q290H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				ACCGGAATCAGGACCGAGGTG	0.363000													19	49					0	0	0.007413	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76026893	76026893	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:76026893G>A	ENST00000275560.3	-	6	1157	c.810C>T	c.(808-810)agC>agT	p.S270S	ZP3_ENST00000336517.4_5'UTR	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	270	SRCR 2.					extracellular region|membrane	scavenger receptor activity	p.S270S(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CCCAGCCCAGGCTCTGGCAGG	0.726000													5	6					0	0	0.010729	0	0
FBXL7	23194	broad.mit.edu	37	5	15928521	15928521	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:15928521T>G	ENST00000504595.1	+	3	1131	c.650T>G	c.(649-651)cTg>cGg	p.L217R	FBXL7_ENST00000510662.1_Missense_Mutation_p.L170R|FBXL7_ENST00000329673.7_Missense_Mutation_p.L205R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	217					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.L217R(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						CTGAGGCGACTGGAAGTCTCA	0.562000													22	87					0	0	0.004656	0	0
SNX12	29934	broad.mit.edu	37	X	70288110	70288110	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:70288110G>A	ENST00000374274.3	-	1	163	c.47C>T	c.(46-48)cCg>cTg	p.P16L	SNX12_ENST00000276105.3_Missense_Mutation_p.P16L|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	16					cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	p.P16L(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					CAGGTCCTGCGGCTTCGAGTT	0.627000													3	19					0	0	0.000602	0	0
FBXO38	81545	broad.mit.edu	37	5	147782066	147782066	+	Silent	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:147782066A>G	ENST00000340253.5	+	5	750	c.582A>G	c.(580-582)ttA>ttG	p.L194L	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.L194L|FBXO38_ENST00000394370.3_Silent_p.L194L|FBXO38_ENST00000513826.1_Silent_p.L194L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	194						cytoplasm|nucleus		p.L194L(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)			TTCAAACTTTACATTTAGTTG	0.318000													28	55					0	0	0.007291	0	0
ATP4A	495	broad.mit.edu	37	19	36054337	36054337	+	Silent	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:36054337C>A	ENST00000262623.3	-	2	133	c.105G>T	c.(103-105)ggG>ggT	p.G35G		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	35					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.G35G(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGCCACCCCCGCCACCCG	0.602000													28	347					6.50621e-10	7.878e-10	0.013726	1	0
MEGF10	84466	broad.mit.edu	37	5	126676236	126676236	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:126676236C>A	ENST00000274473.6	+	5	500	c.233C>A	c.(232-234)aCa>aAa	p.T78K	MEGF10_ENST00000508365.1_Missense_Mutation_p.T78K|MEGF10_ENST00000503335.2_Missense_Mutation_p.T78K|MEGF10_ENST00000418761.2_Missense_Mutation_p.T78K	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	78	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.T78K(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCTATCGGACAGCCTATCGA	0.373000													12	72					2.27111e-07	2.63869e-07	0.013537	1	0
LIG1	3978	broad.mit.edu	37	19	48660337	48660337	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:48660337T>G	ENST00000263274.7	-	5	723	c.304A>C	c.(304-306)Aat>Cat	p.N102H	LIG1_ENST00000536218.1_Missense_Mutation_p.N102H|LIG1_ENST00000599165.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.N72H	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	102					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.N102H(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGGGAAGCATTGTTCTCAGGA	0.602000								Nucleotide excision repair (NER)					5	191					0	0	0.001984	0	0
OR4A47	403253	broad.mit.edu	37	11	48510483	48510483	+	Missense_Mutation	SNP	G	G	A	rs142333570	byFrequency	TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:48510483G>A	ENST00000446524.1	+	1	215	c.139G>A	c.(139-141)Gta>Ata	p.V47I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V47I(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TGTAGTGACCGTAACTGTCAG	0.418000													22	18					0	0	0.005443	0	0
LAMB1	3912	broad.mit.edu	37	7	107615484	107615484	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:107615484C>T	ENST00000393561.1	-	10	1685	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	LAMB1_ENST00000222399.6_Missense_Mutation_p.G477S|LAMB1_ENST00000393560.1_Missense_Mutation_p.G477S			P07942	LAMB1_HUMAN	laminin, beta 1	477	Laminin EGF-like 4.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.G477S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGCAGTGACCTGTCTCGGAA	0.483000													28	32					0	0	0.008361	0	0
ANO5	203859	broad.mit.edu	37	11	22281108	22281108	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:22281108G>A	ENST00000324559.8	+	15	1768	c.1451G>A	c.(1450-1452)cGc>cAc	p.R484H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	484						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.R484H(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTGTGTACCGCCTGTCAGTC	0.413000													18	108					0	0	0.012319	0	0
GLI3	2737	broad.mit.edu	37	7	42006187	42006187	+	Silent	SNP	C	C	T	rs116840759		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:42006187C>T	ENST00000395925.3	-	15	2568	c.2484G>A	c.(2482-2484)ccG>ccA	p.P828P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	828					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P828P(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCTTCTGCCCGGGAGAAGCG	0.592000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				20	195					0	0	0.012319	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217285083	217285083	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:217285083C>G	ENST00000357276.4	+	5	1254	c.924C>G	c.(922-924)agC>agG	p.S308R	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S308R	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	308					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.S308R(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CCTATGGCAGCAGCGAGTCAC	0.567000									Schimke Immuno-Osseous Dysplasia				3	36					0	0	0.001168	0	0
ZNF804B	219578	broad.mit.edu	37	7	88966114	88966114	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:88966114C>T	ENST00000333190.4	+	4	4427	c.3818C>T	c.(3817-3819)gCt>gTt	p.A1273V		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1273						intracellular	zinc ion binding	p.A1273V(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)			TTAGTAGCTGCTACCCCCTTC	0.473000										HNSCC(36;0.09)			83	229					0	0	0.014410	0	0
ZNF577	84765	broad.mit.edu	37	19	52380585	52380585	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:52380585C>G	ENST00000420592.1	-	5	1566	c.233G>C	c.(232-234)gGa>gCa	p.G78A	ZNF577_ENST00000451628.2_Missense_Mutation_p.G78A|ZNF577_ENST00000412216.1_Missense_Mutation_p.G78A|ZNF577_ENST00000301399.5_Missense_Mutation_p.G78A|ZNF577_ENST00000485702.1_5'UTR			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G71A(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)		TGGGGGTTCTCCTTGCTCCAA	0.498000													8	164					0	0	0.010729	0	0
FMOD	2331	broad.mit.edu	37	1	203316507	203316507	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:203316507G>T	ENST00000354955.4	-	2	1355	c.892C>A	c.(892-894)Cta>Ata	p.L298I	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	298					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.L298I(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGAGGTCTAGCTCAAGGAGG	0.567000													67	173					1.26778e-28	1.73349e-28	0.014410	1	0
KIF4A	24137	broad.mit.edu	37	X	69563564	69563564	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:69563564G>A	ENST00000374403.3	+	12	1360	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	KIF4A_ENST00000374388.3_Silent_p.A426A	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	426					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding	p.A426A(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAGAGCAAGCGAATGAAAAAA	0.448000													8	59					0	0	0.003080	0	0
OR4K5	79317	broad.mit.edu	37	14	20389573	20389573	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:20389573T>C	ENST00000315915.4	+	1	833	c.808T>C	c.(808-810)Ttt>Ctt	p.F270L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F270L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTGGATAAATTTCTTGCCAT	0.388000													16	296					0	0	0.006122	0	0
SLC13A2	9058	broad.mit.edu	37	17	26818601	26818601	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:26818601G>C	ENST00000444914.3	+	5	1288	c.868G>C	c.(868-870)Gca>Cca	p.A290P	SLC13A2_ENST00000545060.1_Missense_Mutation_p.A198P|SLC13A2_ENST00000537681.1_Missense_Mutation_p.A170P|SLC13A2_ENST00000314669.5_Missense_Mutation_p.A241P	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	241						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.A241T(1)|p.A290T(1)|p.A241P(1)|p.A290P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GACTGGCACCGCACCCAACCT	0.627000													13	79					0	0	0.003163	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324375	79324375	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr9:79324375C>A	ENST00000428286.1	-	8	2938	c.1738G>T	c.(1738-1740)Gat>Tat	p.D580Y	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D939Y			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	939					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.D939Y(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AAGAAGGAATCTTCCCAAGGA	0.423000													81	144					7.7321e-48	1.06449e-47	0.014410	1	0
C15orf48	84419	broad.mit.edu	37	15	45723236	45723236	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:45723236G>A	ENST00000344300.3	+	2	264	c.74G>A	c.(73-75)gGt>gAt	p.G25D	C15orf48_ENST00000396650.2_Missense_Mutation_p.G25D|RP11-519G16.5_ENST00000559553.1_RNA	NM_032413.3	NP_115789.1	Q9C002	NMES1_HUMAN	chromosome 15 open reading frame 48	25						nucleus		p.G25D(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		GTGGCGGCGGGTGGAGCCTCA	0.423000													20	68					0	0	0.007291	0	0
HGFAC	3083	broad.mit.edu	37	4	3446354	3446354	+	Nonsense_Mutation	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr4:3446354T>A	ENST00000382774.3	+	7	850	c.735T>A	c.(733-735)tgT>tgA	p.C245*	HGFAC_ENST00000511533.1_Nonsense_Mutation_p.C245*	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	245	EGF-like 2.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.C245*(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)		CCCCAGCTTGTCTGAGCAGCC	0.711000													4	11					0	0	0.009096	0	0
BRINP1	1620	broad.mit.edu	37	9	122000956	122000956	+	Missense_Mutation	SNP	G	G	A	rs1473785		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr9:122000956G>A	ENST00000265922.3	-	5	1123	c.662C>T	c.(661-663)aCg>aTg	p.T221M	DBC1_ENST00000373964.2_Missense_Mutation_p.T221M	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		221	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.T221M(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TTTGCTCTCCGTGCTTTGCAG	0.512000													18	42					0	0	0.008871	0	0
YEATS2	55689	broad.mit.edu	37	3	183476724	183476724	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:183476724G>A	ENST00000305135.5	+	13	1822	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	543					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G543R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAATTCATGGAAGTAGTTT	0.358000													39	101					0	0	0.009718	0	0
RWDD2B	10069	broad.mit.edu	37	21	30378852	30378852	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr21:30378852G>T	ENST00000493196.1	-	5	946	c.846C>A	c.(844-846)ttC>ttA	p.F282L	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	282								p.F282L(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CATTAACACTGAACACTTTTT	0.388000													18	130					6.49762e-13	8.37193e-13	0.006122	1	0
TYMS	7298	broad.mit.edu	37	18	670729	670729	+	Silent	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr18:670729C>G	ENST00000323274.10	+	5	733	c.594C>G	c.(592-594)ctC>ctG	p.L198L	TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR|TYMS_ENST00000323224.7_Silent_p.L164L	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	198					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.L198L(1)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	GCCATGCCCTCTGCCAGTTCT	0.557000													45	189					0	0	0.009718	0	0
KCNK2	3776	broad.mit.edu	37	1	215259842	215259842	+	Nonsense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:215259842A>T	ENST00000444842.2	+	2	328	c.178A>T	c.(178-180)Aag>Tag	p.K60*	KCNK2_ENST00000391894.2_Nonsense_Mutation_p.K45*|KCNK2_ENST00000391895.2_Nonsense_Mutation_p.K56*	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	60							outward rectifier potassium channel activity	p.K60*(1)|p.K45*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TATGAAATGGAAGACGGTCTC	0.512000													52	54					0	0	0.014410	0	0
FCN1	2219	broad.mit.edu	37	9	137806617	137806617	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr9:137806617G>T	ENST00000371806.3	-	3	347	c.256C>A	c.(256-258)Cca>Aca	p.P86T		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	86	Collagen-like.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.P86T(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GGCCCCACTGGTCCTGCCTTT	0.527000													3	16					0.000602214	0.000654298	0.000602	1	0
FAM111B	374393	broad.mit.edu	37	11	58892054	58892054	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:58892054C>G	ENST00000343597.3	+	4	675	c.484C>G	c.(484-486)Caa>Gaa	p.Q162E	FAM111B_ENST00000529618.1_Missense_Mutation_p.Q132E|FAM111B_ENST00000411426.1_Missense_Mutation_p.Q132E	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	162							catalytic activity	p.Q162E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TACATTTGGTCAAAGAAAGAG	0.338000													4	51					0	0	0.009096	0	0
DPY19L2	283417	broad.mit.edu	37	12	64055199	64055199	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:64055199C>A	ENST00000324472.4	-	4	696	c.513G>T	c.(511-513)tgG>tgT	p.W171C	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	171					multicellular organismal development|spermatid development	integral to membrane		p.W171C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCATAATCATCCACAGTCCTT	0.303000													13	267					1.3612e-06	1.56344e-06	0.003163	1	0
SALL1	6299	broad.mit.edu	37	16	51174943	51174943	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:51174943G>T	ENST00000440970.1	-	2	1330	c.899C>A	c.(898-900)tCc>tAc	p.S300Y	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S397Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	397					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.S397Y(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)			CGAGTTAGCGGAGGCTTGCTG	0.498000													12	139					6.42651e-13	8.33374e-13	0.010729	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84611522	84611522	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:84611522C>T	ENST00000286744.5	+	18	2516	c.2292C>T	c.(2290-2292)caC>caT	p.H764H	ADAMTSL3_ENST00000567476.1_Silent_p.H764H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	764	TSP type-1 6.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.H764H(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGGCTGGCACATTGAAGAAT	0.572000													3	23					0	0	0.009096	0	0
PRRT2	112476	broad.mit.edu	37	16	29825755	29825755	+	Silent	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:29825755C>A	ENST00000358758.7	+	3	1264	c.981C>A	c.(979-981)atC>atA	p.I327I	PRRT2_ENST00000300797.6_3'UTR|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000567659.1_Silent_p.I327I	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	327					response to biotic stimulus	integral to membrane		p.I327I(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						GAGTCCTCATCATCATCGCCT	0.642000													7	103					0.000157383	0.000173813	0.003080	1	0
RHPN2	85415	broad.mit.edu	37	19	33503585	33503585	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:33503585C>G	ENST00000254260.3	-	5	471	c.436G>C	c.(436-438)Gat>Cat	p.D146H	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	146	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.D146H(1)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCAATTTCATCTTCATATAAA	0.398000													14	119					0	0	0.003163	0	0
SPATA22	84690	broad.mit.edu	37	17	3343538	3343538	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:3343538C>A	ENST00000573128.1	-	9	1478	c.995G>T	c.(994-996)aGa>aTa	p.R332I	SPATA22_ENST00000397168.3_Missense_Mutation_p.R332I|SPATA22_ENST00000355380.4_Missense_Mutation_p.R289I|SPATA22_ENST00000575375.1_Missense_Mutation_p.R332I|SPATA22_ENST00000268981.5_3'UTR|SPATA22_ENST00000541913.1_Missense_Mutation_p.R316I|SPATA22_ENST00000572969.1_Missense_Mutation_p.R332I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	332								p.R332I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGACGCCGGTCTGACAGAAAC	0.378000													7	124					5.18039e-06	5.91624e-06	0.003080	1	0
TTN	7273	broad.mit.edu	37	2	179592019	179592019	+	Silent	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:179592019T>A	ENST00000589042.1	-	69	20297	c.20073A>T	c.(20071-20073)atA>atT	p.I6691I	TTN_ENST00000591111.1_Silent_p.I6374I|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.I5447I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6374	Ig-like 48.						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)			GGGATCCAGCTATCTTGCATT	0.423000													8	32					0	0	0.006214	0	0
ZNF711	7552	broad.mit.edu	37	X	84526697	84526697	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:84526697T>A	ENST00000360700.4	+	10	3173	c.2287T>A	c.(2287-2289)Tct>Act	p.S763T	ZNF711_ENST00000542798.1_Missense_Mutation_p.S559T|ZNF711_ENST00000373165.3_Missense_Mutation_p.S717T|ZNF711_ENST00000395402.1_Missense_Mutation_p.S725T|ZNF711_ENST00000276123.3_Missense_Mutation_p.S717T			Q9Y462	ZN711_HUMAN	zinc finger protein 711	717					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.S717T(1)|p.S727T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TACAGATGCATCTGGCTTTAA	0.368000													18	130					0	0	0.008871	0	0
IGSF10	285313	broad.mit.edu	37	3	151155695	151155695	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:151155695G>A	ENST00000282466.3	-	6	6653	c.6654C>T	c.(6652-6654)ccC>ccT	p.P2218P	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2218	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.P2218P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATCCCCACTGGGATTTCGGG	0.423000													54	111					0	0	0.014410	0	0
UBN2	254048	broad.mit.edu	37	7	138957090	138957090	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:138957090T>C	ENST00000288561.8	+	9	1619	c.1370T>C	c.(1369-1371)cTg>cCg	p.L457P	UBN2_ENST00000473989.2_Missense_Mutation_p.L540P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	540								p.L457P(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGAGAACCTCTGCAAAAACTG	0.373000													32	158					0	0	0.012213	0	0
SUN1	23353	broad.mit.edu	37	7	901102	901102	+	Splice_Site	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:901102G>A	ENST00000456758.2	+	21	2431		c.e21+1		SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	p.?(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATCTGGTGGTGAGTAAATA	0.507000													62	80					0	0	0.014410	0	0
PDZRN4	29951	broad.mit.edu	37	12	41587896	41587896	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:41587896G>A	ENST00000402685.2	+	3	757	c.749G>A	c.(748-750)gGa>gAa	p.G250E		NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	250	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding	p.G250E(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AATCAGGAAGGAACATCGACT	0.318000													6	48					0	0	0.001168	0	0
CLVS1	157807	broad.mit.edu	37	8	62289222	62289222	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr8:62289222G>T	ENST00000519846.1	+	4	986	c.514G>T	c.(514-516)Gat>Tat	p.D172Y	CLVS1_ENST00000325897.4_Missense_Mutation_p.D172Y|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	172	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.D172Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCTAATCGAAGATCCGGAGCT	0.443000													24	182					3.6726e-16	4.8887e-16	0.003954	1	0
FLG2	388698	broad.mit.edu	37	1	152323784	152323784	+	Missense_Mutation	SNP	A	A	T	rs113396101		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:152323784A>T	ENST00000388718.5	-	3	6550	c.6478T>A	c.(6478-6480)Tct>Act	p.S2160T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2160							calcium ion binding|structural molecule activity	p.S2160T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGACCAGACTGGCCATGT	0.512000													127	498					0	0	0.014410	0	0
TRPM2	7226	broad.mit.edu	37	21	45821603	45821603	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr21:45821603C>T	ENST00000397928.1	+	16	2806	c.2361C>T	c.(2359-2361)cgC>cgT	p.R787R	TRPM2_ENST00000397932.2_Silent_p.R787R|TRPM2_ENST00000300482.5_Silent_p.R787R|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.R767R	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	787						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R787R(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						CCGCGGCCCGCGCCCGTGCCT	0.647000													18	185					0	0	0.007413	0	0
CP	1356	broad.mit.edu	37	3	148903209	148903209	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:148903209G>A	ENST00000264613.6	-	12	2364	c.2102C>T	c.(2101-2103)aCa>aTa	p.T701I	CP_ENST00000462336.1_Intron	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	701	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.T701I(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATGATCAGTTGTAAGGCATTC	0.453000													70	102					0	0	0.014410	0	0
C11orf63	79864	broad.mit.edu	37	11	122805201	122805201	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:122805201T>C	ENST00000227349.2	+	5	1349	c.1052T>C	c.(1051-1053)aTg>aCg	p.M351T	C11orf63_ENST00000531316.1_Missense_Mutation_p.M351T	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	351								p.M351T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CCTTCTGACATGGTGAATGAC	0.418000													3	36					0	0	0.004672	0	0
UGT8	7368	broad.mit.edu	37	4	115544374	115544374	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr4:115544374A>T	ENST00000310836.6	+	2	860	c.338A>T	c.(337-339)aAc>aTc	p.N113I	UGT8_ENST00000394511.3_Missense_Mutation_p.N113I	NM_001128174.1	NP_001121646.1	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	113					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TATACTAAGAACTGTGACCTG	0.448000													4	157					0	0	0.009096	0	0
RNF135	84282	broad.mit.edu	37	17	29325909	29325909	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:29325909G>A	ENST00000328381.5	+	5	1872	c.999G>A	c.(997-999)gaG>gaA	p.E333E	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	333	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.E333E(1)|p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CTTCCTGGGAGATGAGCCGCG	0.557000													12	50					0	0	0.001855	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885837	45885837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:45885837C>T	ENST00000418234.2	-	12	2474	c.2396G>A	c.(2395-2397)tGg>tAg	p.W799*	PPP1R13L_ENST00000360957.5_Nonsense_Mutation_p.W799*	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	799	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.W799*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCGGCCCACCACCAGTCGGT	0.697000													18	72					0	0	0.003330	0	0
CFHR5	81494	broad.mit.edu	37	1	196977743	196977743	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:196977743C>A	ENST00000367414.5	+	10	1768	c.1712C>A	c.(1711-1713)gCg>gAg	p.A571E	CFHR5_ENST00000256785.4_Missense_Mutation_p.A547E	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	547					complement activation, alternative pathway	extracellular region		p.A547E(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACATAAAGCGATGATATCA	0.343000													11	142					1.61879e-10	1.99618e-10	0.013537	1	0
GDI1	2664	broad.mit.edu	37	X	153668809	153668809	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:153668809A>T	ENST00000447750.2	+	6	1010	c.675A>T	c.(673-675)ttA>ttT	p.L225F		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	225					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.L225F(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCATATTTATACCCGCTCT	0.567000													18	70					0	0	0.006122	0	0
DIS3	22894	broad.mit.edu	37	13	73333994	73333994	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr13:73333994G>C	ENST00000377767.4	-	21	2916	c.2816C>G	c.(2815-2817)aCt>aGt	p.T939S	DIS3_ENST00000377780.4_Missense_Mutation_p.T909S|DIS3_ENST00000545453.1_Missense_Mutation_p.T777S	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	939					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	p.T939S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGAAGTATCAGTAGGAATGCT	0.363000										Multiple Myeloma(4;0.011)			19	59					0	0	0.014323	0	0
MRPL18	29074	broad.mit.edu	37	6	160218467	160218467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:160218467C>T	ENST00000367034.4	+	3	510	c.388C>T	c.(388-390)Cga>Tga	p.R130*	MRPL18_ENST00000480842.1_3'UTR	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	130					rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome	p.R130*(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GAGTATAGGACGAGTGCTGGC	0.493000													20	74					0	0	0.003954	0	0
PRKCD	5580	broad.mit.edu	37	3	53222799	53222799	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:53222799G>A	ENST00000394729.2	+	15	1807	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	PRKCD_ENST00000330452.3_Silent_p.G493G	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	493	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CCGACTTTGGGATGTGCAAAG	0.587000													9	95					0	0	0.008291	0	0
MCMDC2	157777	broad.mit.edu	37	8	67796088	67796088	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr8:67796088C>T	ENST00000422365.2	+	9	1103	c.932C>T	c.(931-933)tCa>tTa	p.S311L	MCMDC2_ENST00000396592.3_Missense_Mutation_p.S311L|MCMDC2_ENST00000313616.5_Missense_Mutation_p.S311L|MCMDC2_ENST00000541540.1_Missense_Mutation_p.S248L|MCMDC2_ENST00000492775.1_Missense_Mutation_p.S311L	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	311					DNA replication		ATP binding|DNA binding	p.S311L(2)|p.S306L(1)		endometrium(2)|kidney(2)|lung(5)	9						ATCTTTGCATCACAAATTACC	0.433000													5	157					0	0	0.001168	0	0
ZNF630	57232	broad.mit.edu	37	X	47919181	47919181	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:47919181G>T	ENST00000276054.4	-	5	1212	c.278C>A	c.(277-279)gCt>gAt	p.A93D	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.A203D|ZNF630_ENST00000409324.3_Missense_Mutation_p.A217D			Q2M218	ZN630_HUMAN	zinc finger protein 630	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A217D(1)		endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						AGAACAGGAAGCATTATACTT	0.408000													8	104					0.000157383	0.000173813	0.003080	1	0
MTMR8	55613	broad.mit.edu	37	X	63488494	63488494	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:63488494C>T	ENST00000374852.3	-	14	2105	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	680						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.G680R(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATGTCCCCAGAGAAACCC	0.537000													15	38					0	0	0.004007	0	0
GABRQ	55879	broad.mit.edu	37	X	151821213	151821213	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:151821213C>T	ENST00000370306.2	+	9	1388	c.1368C>T	c.(1366-1368)acC>acT	p.T456T		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	456						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.T456T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCCTCCACCTCAGAGCAGG	0.592000													5	127					0	0	0.000602	0	0
GABRD	2563	broad.mit.edu	37	1	1961436	1961436	+	Silent	SNP	C	C	T	rs75511732		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:1961436C>T	ENST00000378585.4	+	9	1157	c.1074C>T	c.(1072-1074)aaC>aaT	p.N358N		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	358						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.N358N(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	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;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		ACGTGAGGAACGCCATTGTCC	0.687000													12	73					0	0	0.003163	0	0
ELF1	1997	broad.mit.edu	37	13	41507961	41507961	+	Missense_Mutation	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr13:41507961T>A	ENST00000239882.3	-	9	1774	c.1460A>T	c.(1459-1461)cAg>cTg	p.Q487L	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.Q463L	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	487					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q487L(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTTTTGTGACTGCAGCATGAC	0.478000													50	159					0	0	0.014410	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89512978	89512978	+	RNA	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr2:89512978G>T	ENST00000498435.1	-	0	311																											GATGGTGAGAGTGAAATCTGT	0.488000													18	124					0.000175454	0.000192712	0.010504	1	0
DNAH5	1767	broad.mit.edu	37	5	13776694	13776694	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:13776694C>A	ENST00000265104.4	-	55	9331	c.9227G>T	c.(9226-9228)aGt>aTt	p.S3076I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3076	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S3076I(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)					TCGGACCCGACTCATGAAGTA	0.463000									Kartagener syndrome				31	129					5.90632e-09	7.06649e-09	0.012213	1	0
FAM213A	84293	broad.mit.edu	37	10	82180281	82180281	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr10:82180281G>A	ENST00000372181.1	+	1	528	c.58G>A	c.(58-60)Gga>Aga	p.G20R	FAM213A_ENST00000372187.5_Missense_Mutation_p.G20R|FAM213A_ENST00000372188.1_Missense_Mutation_p.G20R|FAM213A_ENST00000372185.1_Missense_Mutation_p.G9R	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	CJ058_HUMAN	family with sequence similarity 213, member A	20						extracellular region		p.G20R(1)									CATTGGTGCAGGAGCCCTGGG	0.547000													5	129					0	0	0.000602	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20506983	20506983	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr20:20506983C>A	ENST00000202677.6	-	28	3748	c.3606G>T	c.(3604-3606)caG>caT	p.Q1202H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1202					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.Q1202H(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CGCAAGCTACCTGGGCCACGA	0.413000													3	17					0.00909568	0.0098292	0.009096	1	0
RPL4	6124	broad.mit.edu	37	15	66792408	66792408	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:66792408G>A	ENST00000307961.6	-	9	1116	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	RPL4_ENST00000568588.1_Missense_Mutation_p.R248C	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	342					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	p.R342C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CTGGCCTGGCGAAGAATGGTG	0.473000													9	86					0	0	0.006214	0	0
CHRNA4	1137	broad.mit.edu	37	20	61990970	61990970	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr20:61990970C>T	ENST00000370263.4	-	2	379	c.158G>A	c.(157-159)cGa>cAa	p.R53Q	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)	53					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.R53Q(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)	GGCCACGGGTCGGGACCACTT	0.647000													22	95					0	0	0.004656	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36217939	36217939	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:36217939G>C	ENST00000258840.6	-	10	1493	c.1103C>G	c.(1102-1104)tCc>tGc	p.S368C	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S368C|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S368C|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S368C|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	368					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.S368C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTTGTATTGGAATGAGACTG	0.393000													78	55					0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47917203	47917203	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:47917203C>G	ENST00000289672.2	-	22	3597	c.3547G>C	c.(3547-3549)Gct>Cct	p.A1183P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1183	REJ.				cell-cell adhesion	integral to membrane		p.A1183P(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TACAGCTGAGCTTTACCCAGT	0.498000													7	86					0	0	0.001984	0	0
GSE1	23199	broad.mit.edu	37	16	85695049	85695049	+	Silent	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:85695049G>T	ENST00000253458.7	+	9	2114	c.1938G>T	c.(1936-1938)ctG>ctT	p.L646L	GSE1_ENST00000405402.2_Silent_p.L542L|GSE1_ENST00000393243.1_Silent_p.L573L	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.L646L(1)									CTGCCCCTCTGGACAAGTACC	0.706000													5	20					1.06961e-07	1.25726e-07	0.003080	1	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926281	45926281	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:45926281C>T	ENST00000395629.2	+	9	2089	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	MAPK8IP1_ENST00000241014.2_Missense_Mutation_p.R597C			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	597	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R597C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCCACCACCCGCCGGCTCAC	0.612000													23	86					0	0	0.005443	0	0
CRTC2	200186	broad.mit.edu	37	1	153927404	153927404	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:153927404C>T	ENST00000368633.1	-	3	444	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	CRTC2_ENST00000368630.3_Intron|CRTC2_ENST00000476883.1_5'UTR	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	106					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	p.R106Q(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCGCTGCACCCGTTCCACCAG	0.567000													8	71					0	0	0.008291	0	0
ZNF536	9745	broad.mit.edu	37	19	30935455	30935455	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:30935455C>A	ENST00000355537.3	+	2	1133	c.986C>A	c.(985-987)gCc>gAc	p.A329D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A329D(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGAGTCGGCCCAGGGCCAG	0.652000													20	253					1.85244e-09	2.22958e-09	0.003330	1	0
MCF2	4168	broad.mit.edu	37	X	138708867	138708867	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:138708867G>T	ENST00000520602.1	-	8	952	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	MCF2_ENST00000536274.1_Missense_Mutation_p.L124M|MCF2_ENST00000370578.4_Missense_Mutation_p.L308M|MCF2_ENST00000519895.1_Missense_Mutation_p.L223M|MCF2_ENST00000338585.6_Missense_Mutation_p.L163M|MCF2_ENST00000414978.1_Missense_Mutation_p.L223M|MCF2_ENST00000370576.4_Missense_Mutation_p.L163M|MCF2_ENST00000370573.4_Missense_Mutation_p.L163M			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	163					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.L163M(3)|p.L223M(2)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGCACTTCCAGATTTGTTAGC	0.383000													15	118					3.27435e-08	3.89435e-08	0.002450	1	0
ARHGEF40	55701	broad.mit.edu	37	14	21543035	21543035	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:21543035G>C	ENST00000298694.4	+	3	1273	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.K382N			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	382	Gly-rich.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.K382N(1)		large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						ACAGAAGAAAGAAGCGAGCTG	0.627000													16	77					0	0	0.006122	0	0
KMT2C	58508	broad.mit.edu	37	7	151927085	151927085	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:151927085C>A	ENST00000355193.2	-	18	3117	c.2899G>T	c.(2899-2901)Ggc>Tgc	p.G967C	KMT2C_ENST00000262189.6_Missense_Mutation_p.G967C					lysine (K)-specific methyltransferase 2C									p.G967C(2)									GCTCCTTGGCCAAAACTGCCA	0.343000													10	350					2.61681e-11	3.28737e-11	0.002450	1	0
SHISA5	51246	broad.mit.edu	37	3	48510922	48510922	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:48510922G>A	ENST00000296444.2	-	5	817	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	SHISA5_ENST00000443308.2_Nonsense_Mutation_p.Q154*|SHISA5_ENST00000444115.1_Nonsense_Mutation_p.Q130*|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000426002.1_Nonsense_Mutation_p.Q58*|SHISA5_ENST00000442747.1_Nonsense_Mutation_p.Q130*	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	161	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding	p.Q161*(1)		large_intestine(1)|lung(1)	2						CTTGGAGGCTGAGGATAAGGG	0.602000													5	73					0	0	0.000602	0	0
NISCH	11188	broad.mit.edu	37	3	52492774	52492774	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:52492774C>A	ENST00000345716.4	+	3	408	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	NISCH_ENST00000420808.2_Missense_Mutation_p.L92M|NISCH_ENST00000479054.1_Missense_Mutation_p.L92M|NISCH_ENST00000488380.1_Missense_Mutation_p.L92M	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	92	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	p.L92M(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)		GGAGAAGGATCTGGAGGTCTA	0.483000													13	100					4.36969e-10	5.32308e-10	0.001855	1	0
EIF4B	1975	broad.mit.edu	37	12	53412608	53412608	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:53412608G>A	ENST00000262056.9	+	3	504	c.178G>A	c.(178-180)Gac>Aac	p.D60N	EIF4B_ENST00000416762.3_Missense_Mutation_p.D60N|EIF4B_ENST00000420463.3_Missense_Mutation_p.D60N|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	60					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.D60N(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAGTAACGATGACGATGTGTA	0.493000													70	165					0	0	0.014410	0	0
DNAH11	8701	broad.mit.edu	37	7	21784217	21784217	+	Splice_Site	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:21784217A>T	ENST00000328843.6	+	51	8368	c.8337_splice	c.e51+1	p.E2779_splice	DNAH11_ENST00000409508.3_Splice_Site_p.E2772_splice			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2779					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2779D(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATATTTTGAAGTAAGCGTAT	0.388000									Kartagener syndrome				11	92					0	0	0.008291	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723260	58723260	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:58723260G>T	ENST00000300079.5	+	7	812	c.762G>T	c.(760-762)atG>atT	p.M254I	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.M223I	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	223						mitochondrion	glycine N-acyltransferase activity	p.M254I(1)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522000													13	39					1.61879e-10	1.99618e-10	0.013537	1	0
SALL1	6299	broad.mit.edu	37	16	51175382	51175382	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:51175382G>A	ENST00000440970.1	-	2	891	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R251C	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	251	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.R251C(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)			ATTTGGTGACGAATCTGTTCG	0.532000													10	149					0	0	0.010729	0	0
SEMA3D	223117	broad.mit.edu	37	7	84702345	84702345	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:84702345A>C	ENST00000284136.6	-	4	471	c.428T>G	c.(427-429)aTa>aGa	p.I143R	SEMA3D_ENST00000444867.1_Missense_Mutation_p.I143R	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	143	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.I143R(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACACACATATATGTGAGTTTT	0.343000													18	63					0	0	0.008871	0	0
DPAGT1	1798	broad.mit.edu	37	11	118971518	118971518	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:118971518G>A	ENST00000409993.2	-	5	1869	c.318C>T	c.(316-318)tgC>tgT	p.C106C	DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Silent_p.C106C			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	106					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	p.C106C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AGATCATGCAGCAGATGGCAA	0.557000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	52					0	0	0.002450	0	0
SFMBT2	57713	broad.mit.edu	37	10	7262456	7262456	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr10:7262456G>T	ENST00000361972.4	-	11	1337	c.1247C>A	c.(1246-1248)gCt>gAt	p.A416D	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A416D	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	416					regulation of transcription, DNA-dependent	nucleus		p.A416D(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGGTTCACAGCTTCAAGTTT	0.532000													102	74					8.32725e-61	1.16235e-60	0.014410	1	0
C16orf62	57020	broad.mit.edu	37	16	19702685	19702685	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:19702685C>T	ENST00000438132.3	+	29	2853	c.2805C>T	c.(2803-2805)aaC>aaT	p.N935N	C16orf62_ENST00000251143.5_Silent_p.N846N|C16orf62_ENST00000543152.1_Silent_p.N595N|C16orf62_ENST00000417362.2_Silent_p.N753N|C16orf62_ENST00000542263.1_Silent_p.N842N|C16orf62_ENST00000448695.1_Silent_p.N696N	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	846						integral to membrane		p.N935N(1)|p.N846N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGACTCCAACGACAGCCTCT	0.562000													9	41					0	0	0.006214	0	0
PPP6R2	9701	broad.mit.edu	37	22	50875986	50875986	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr22:50875986T>G	ENST00000359139.3	+	15	2048	c.1654T>G	c.(1654-1656)Ttt>Gtt	p.F552V	PPP6R2_ENST00000395744.3_Missense_Mutation_p.F552V|PPP6R2_ENST00000395741.3_Missense_Mutation_p.F553V|PPP6R2_ENST00000216061.5_Missense_Mutation_p.F579V	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	579						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.F552V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						CGTGGATCAGTTTGGCTTCAA	0.587000													10	24					0	0	0.001855	0	0
MYCBP2	23077	broad.mit.edu	37	13	77755944	77755944	+	Silent	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr13:77755944A>G	ENST00000407578.2	-	33	5099	c.4833T>C	c.(4831-4833)gaT>gaC	p.D1611D	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Silent_p.D1573D|MYCBP2_ENST00000357337.6_Silent_p.D1573D	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.D1573D(2)|p.D1611D(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACTTCTCCATCATACGCAA	0.423000													37	85					0	0	0.004289	0	0
TRGV8	6982	broad.mit.edu	37	7	38370452	38370452	+	RNA	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:38370452G>A	ENST00000390343.2	-	0	84																											TGGAAGTAAGGGACCAGACGA	0.532000													24	97					0	0	0.003330	0	0
CYBB	1536	broad.mit.edu	37	X	37651312	37651312	+	Splice_Site	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:37651312G>C	ENST00000378588.4	+	4	404	c.337_splice	c.e4+1	p.A113_splice	CYBB_ENST00000545017.1_Splice_Site_p.A81_splice|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000536160.1_5'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	113	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.A113P(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						ACTTCACTCTGGTAAGTTTAT	0.388000													10	56					0	0	0.010729	0	0
LDB2	9079	broad.mit.edu	37	4	16760880	16760880	+	Missense_Mutation	SNP	T	T	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr4:16760880T>G	ENST00000502640.1	-	2	284	c.136A>C	c.(136-138)Agt>Cgt	p.S46R	LDB2_ENST00000441778.2_Missense_Mutation_p.S46R|LDB2_ENST00000515064.1_Missense_Mutation_p.S46R|LDB2_ENST00000304523.5_Missense_Mutation_p.S46R			O43679	LDB2_HUMAN	LIM domain binding 2	46							LIM domain binding|transcription cofactor activity	p.S46R(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AGGTTGTCACTATCCTGCAAA	0.413000													4	134					0	0	0.001168	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011610	105011610	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:105011610C>A	ENST00000372582.1	+	11	2773	c.2017C>A	c.(2017-2019)Cct>Act	p.P673T	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P673T|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.P278T	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	673					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.P673T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTCTTTGCTGCCTTTATCCTC	0.403000													17	121					8.00594e-06	9.09149e-06	0.007413	1	0
ATP8A2	51761	broad.mit.edu	37	13	26343230	26343230	+	Silent	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr13:26343230C>A	ENST00000381655.2	+	26	2573	c.2431C>A	c.(2431-2433)Cgg>Agg	p.R811R	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.R771R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	771					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R811R(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTGAAGAAGCGGGTGAAGGC	0.537000													28	49					2.65835e-16	3.56218e-16	0.007291	1	0
BAG6	7917	broad.mit.edu	37	6	31612875	31612875	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:31612875G>C	ENST00000404765.2	-	10	1506	c.1217C>G	c.(1216-1218)tCc>tGc	p.S406C	BAG6_ENST00000439687.2_Missense_Mutation_p.S406C|BAG6_ENST00000375976.4_Missense_Mutation_p.S406C|BAG6_ENST00000375964.6_Missense_Mutation_p.S412C|BAG6_ENST00000362049.6_Missense_Mutation_p.S406C|BAG6_ENST00000211379.5_Missense_Mutation_p.S406C			P46379	BAG6_HUMAN	BCL2-associated athanogene 6	412	4 X 29 AA approximate repeats.|Pro-rich.				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	p.S406C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGGAGCCACGGATGAGGCCTG	0.657000													17	144					0	0	0.008871	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642000													4	106					0	0	0.000602	0	0
TRAF6	7189	broad.mit.edu	37	11	36520069	36520069	+	Silent	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:36520069A>G	ENST00000526995.1	-	3	664	c.418T>C	c.(418-420)Ttg>Ctg	p.L140L	TRAF6_ENST00000348124.5_Silent_p.L140L	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	140	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	p.L140L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ATCTTGTGCAAACAACCTTCA	0.363000													40	130					0	0	0.014410	0	0
RSPO1	284654	broad.mit.edu	37	1	38082223	38082223	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:38082223G>A	ENST00000356545.2	-	5	1006	c.219C>T	c.(217-219)ggC>ggT	p.G73G	RSPO1_ENST00000401071.2_Silent_p.G73G|RSPO1_ENST00000373059.1_Silent_p.G46G|RSPO1_ENST00000401068.1_Silent_p.G73G|RSPO1_ENST00000401069.1_Silent_p.G73G|RSPO1_ENST00000401070.1_Silent_p.G73G	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	73					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	p.G73G(1)|p.P305L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAAGCAGACGCCCACCTGGC	0.622000													16	151					0	0	0.006122	0	0
CSTB	1476	broad.mit.edu	37	21	45194608	45194608	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr21:45194608C>G	ENST00000291568.5	-	2	274	c.99G>C	c.(97-99)aaG>aaC	p.K33N		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	33						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	p.K33N(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CAGGGAACTTCTTGTTTTCTT	0.522000													4	184					0	0	0.001168	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450634	85450634	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:85450634G>A	ENST00000393217.2	+	8	2124	c.2063G>A	c.(2062-2064)aGt>aAt	p.S688N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	688								p.S688N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GAGGGCTTGAGTAACTATAAT	0.338000													28	108					0	0	0.006320	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666727	49666727	+	Missense_Mutation	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:49666727A>G	ENST00000301072.6	+	4	1342	c.1067A>G	c.(1066-1068)aAt>aGt	p.N356S	TUBA1C_ENST00000541364.1_Missense_Mutation_p.N426S|RP11-161H23.5_ENST00000550468.2_RNA	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	356					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.N356S(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GTTGGCATTAATTACCAGCCT	0.552000													8	76					0	0	0.004482	0	0
CCDC87	55231	broad.mit.edu	37	11	66359594	66359594	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:66359594G>A	ENST00000333861.3	-	1	960	c.893C>T	c.(892-894)tCc>tTc	p.S298F		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	298								p.S298F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGGCGAGGGGGAAGCCCTGCT	0.617000													37	133					0	0	0.004878	0	0
MBTPS2	51360	broad.mit.edu	37	X	21861374	21861374	+	Silent	SNP	T	T	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:21861374T>A	ENST00000365779.2	+	2	243	c.162T>A	c.(160-162)acT>acA	p.T54T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Silent_p.T54T			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	54					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.T54T(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GATGGCAAACTGCTGTTTTCA	0.403000													39	215					0	0	0.005524	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261731	39261731	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:39261731G>C	ENST00000391415.1	+	1	148	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	31	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.E31Q(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CAGCTGCTGTGAGACCACCTG	0.637000													3	69					0	0	0.004672	0	0
SBSN	374897	broad.mit.edu	37	19	36018821	36018821	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:36018821G>A	ENST00000452271.2	-	1	391	c.363C>T	c.(361-363)aaC>aaT	p.N121N	SBSN_ENST00000518157.1_Silent_p.N121N	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	121	Ala/Gly/His-rich.					extracellular region		p.N121N(2)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GTCCAGCAGCGTTGTTGACCC	0.572000													7	313					0	0	0.001984	0	0
LRRC40	55631	broad.mit.edu	37	1	70625094	70625094	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:70625094G>A	ENST00000370952.3	-	10	1218	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	380								p.A380I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						AGTCTCAGTAGCAGACTCACT	0.303000													5	38					0	0	0.001168	0	0
NUMA1	4926	broad.mit.edu	37	11	71719881	71719881	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:71719881G>C	ENST00000393695.3	-	20	5400	c.5069C>G	c.(5068-5070)gCa>gGa	p.A1690G	NUMA1_ENST00000358965.6_Missense_Mutation_p.A1676G|NUMA1_ENST00000351960.6_Missense_Mutation_p.A554G	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1690					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.A1690G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCTGGTCTGCATGGGCAAC	0.577000			T	RARA	APL								13	161					0	0	0.004007	0	0
FCRL3	115352	broad.mit.edu	37	1	157666998	157666998	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:157666998C>T	ENST00000368184.3	-	6	1067	c.776G>A	c.(775-777)tGg>tAg	p.W259*	FCRL3_ENST00000368186.5_Nonsense_Mutation_p.W259*|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	259	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity	p.W259*(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACCTCACACCAGTAAGACCC	0.537000													21	130					0	0	0.014323	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918350	48918350	+	Silent	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:48918350C>T	ENST00000311378.4	+	2	2229	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	WFIKKN2_ENST00000426127.1_Silent_p.D474D|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	567						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.D567D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGACCTGTGACGTCCTCAAGG	0.622000													5	58					0	0	0.003080	0	0
CCDC28B	79140	broad.mit.edu	37	1	32667694	32667694	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:32667694T>C	ENST00000421922.2	+	2	258	c.158T>C	c.(157-159)tTc>tCc	p.F53S	CCDC28B_ENST00000373602.5_Missense_Mutation_p.F53S|CCDC28B_ENST00000483009.1_3'UTR			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	53								p.F53S(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGGGCCAAGTTCAAGAGGTGG	0.612000													10	47					0	0	0.006214	0	0
RIMS2	9699	broad.mit.edu	37	8	105263321	105263321	+	Missense_Mutation	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr8:105263321G>T	ENST00000507740.1	+	21	3439	c.3203G>T	c.(3202-3204)aGa>aTa	p.R1068I	RIMS2_ENST00000339750.2_Missense_Mutation_p.R190I|RIMS2_ENST00000262231.10_Missense_Mutation_p.R1093I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1272I|RIMS2_ENST00000406091.3_Missense_Mutation_p.R1254I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1316					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R1068I(2)|p.R1254I(1)|p.R1272I(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAAGTGGCAAGAAAAACGCTG	0.388000										HNSCC(12;0.0054)			54	13					7.34454e-26	9.97469e-26	0.014410	1	0
ZNF831	128611	broad.mit.edu	37	20	57768042	57768042	+	Silent	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr20:57768042G>T	ENST00000371030.2	+	1	1968	c.1968G>T	c.(1966-1968)ctG>ctT	p.L656L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	656						intracellular	nucleic acid binding|zinc ion binding	p.L656L(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)					GGGCAGAACTGGGCTTTCCTC	0.582000													14	121					0.000151284	0.000168934	0.001855	1	0
POLR2M	81488	broad.mit.edu	37	15	58001463	58001463	+	Missense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:58001463C>T	ENST00000299638.3	+	2	879	c.665C>T	c.(664-666)tCc>tTc	p.S222F	POLR2M_ENST00000380557.4_Missense_Mutation_p.S65F|POLR2M_ENST00000380563.2_Missense_Mutation_p.S222F|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000484300.1_3'UTR|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.S619F|POLR2M_ENST00000464308.1_3'UTR	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M									p.S222F(1)									ACAGGCCTTTCCAGTGGGACT	0.443000													12	56					0	0	0.001855	0	0
TLR6	10333	broad.mit.edu	37	4	38829252	38829252	+	Missense_Mutation	SNP	G	G	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr4:38829252G>C	ENST00000436693.2	-	2	1962	c.1843C>G	c.(1843-1845)Ctc>Gtc	p.L615V	TLR6_ENST00000381950.1_Missense_Mutation_p.L615V	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	615					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	p.L615V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCATCCTGAGATACCAGGGC	0.517000													24	186					0	0	0.003330	0	0
LOC440040	440040	broad.mit.edu	37	11	49831543	49831543	+	RNA	SNP	A	A	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:49831543A>C	ENST00000527477.1	+	0	1768																											CAGAATGGCAATATATATGGA	0.458000													32	19					0	0	0.008740	0	0
OBFC1	79991	broad.mit.edu	37	10	105657388	105657388	+	Missense_Mutation	SNP	A	A	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr10:105657388A>C	ENST00000224950.3	-	7	838	c.671T>G	c.(670-672)tTt>tGt	p.F224C	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.F224C	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	224					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding	p.F224C(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)		CTGCTGGTAAAAGCTCTGCAC	0.547000													73	36					0	0	0.014410	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342445	94342445	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:94342445G>A	ENST00000436063.2	-	2	1103	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S349L(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AGAGTGCACTGATACAGCATT	0.393000													14	86					0	0	0.002450	0	0
LCE3C	353144	broad.mit.edu	37	1	152573217	152573217	+	Missense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:152573217C>A	ENST00000333881.3	+	1	80	c.10C>A	c.(10-12)Cag>Aag	p.Q4K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	4					keratinization			p.Q4K(1)		lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		GATGTCCTGCCAGCAAAACCA	0.507000													55	641					1.95512e-22	2.63744e-22	0.014410	1	0
SCGN	10590	broad.mit.edu	37	6	25665258	25665258	+	Missense_Mutation	SNP	C	C	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:25665258C>G	ENST00000377961.2	+	4	502	c.334C>G	c.(334-336)Cag>Gag	p.Q112E	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	112	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding	p.Q112E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGTTTATGCAGGTGAGTGC	0.512000													11	80					0	0	0.008291	0	0
PCDHA7	56141	broad.mit.edu	37	5	140214302	140214302	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr5:140214302A>T	ENST00000525929.1	+	1	334	c.334A>T	c.(334-336)Agg>Tgg	p.R112W	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R112W	NM_018910.2	NP_061733.1												p.R112W(2)		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)			GATCGTGGAAAGGCCGCTGCA	0.562000													36	363					0	0	0.009718	0	0
NUBPL	80224	broad.mit.edu	37	14	32030658	32030658	+	Nonsense_Mutation	SNP	C	C	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:32030658C>T	ENST00000281081.7	+	1	58	c.13C>T	c.(13-15)Cag>Tag	p.Q5*		NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	5					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	p.Q5*(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		GGGGATTTGGCAGCGTCTGCT	0.667000													3	22					0	0	0.003080	0	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	RNA	SNP	A	A	G			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522000													3	63					0	0	0.004672	0	0
PNISR	25957	broad.mit.edu	37	6	99848691	99848691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:99848691G>A	ENST00000369239.5	-	12	2347	c.2143C>T	c.(2143-2145)Cga>Tga	p.R715*	PNISR_ENST00000438806.1_Nonsense_Mutation_p.R715*	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	715						nuclear speck		p.R715*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TCACTTTCTCGTTTCCTTTTT	0.318000													6	59					0	0	0.001984	0	0
CDK12	51755	broad.mit.edu	37	17	37627359	37627359	+	Missense_Mutation	SNP	T	T	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:37627359T>C	ENST00000447079.4	+	2	1307	c.1274T>C	c.(1273-1275)gTa>gCa	p.V425A	CDK12_ENST00000430627.2_Missense_Mutation_p.V425A	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	425					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.V425A(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGTTCACCTGTATTTTTGCCT	0.438000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			23	124					0	0	0.014323	0	0
MGAT2	4247	broad.mit.edu	37	14	50088220	50088220	+	Silent	SNP	G	G	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:50088220G>T	ENST00000305386.2	+	1	732	c.234G>T	c.(232-234)gcG>gcT	p.A78A	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	78					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	p.A78A(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGGTCCCGGCGGTCCCCCAGC	0.682000													11	30					3.41278e-10	4.18274e-10	0.004990	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	118					0	0	0.000602	0	0
EPHA6	285220	broad.mit.edu	37	3	96706597	96706597	+	Missense_Mutation	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:96706597G>A	ENST00000389672.5	+	3	912	c.874G>A	c.(874-876)Gtt>Att	p.V292I	EPHA6_ENST00000542517.1_Missense_Mutation_p.V198I|EPHA6_ENST00000470610.2_Missense_Mutation_p.V292I	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	197						integral to plasma membrane	ATP binding|ephrin receptor activity	p.V198I(2)|p.V292I(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						CATTGCCCTGGTTTCAGTCCG	0.458000													23	247					0	0	0.003954	0	0
TAGAP	117289	broad.mit.edu	37	6	159464670	159464670	+	Missense_Mutation	SNP	A	A	T			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:159464670A>T	ENST00000367066.3	-	4	430	c.99T>A	c.(97-99)caT>caA	p.H33Q	TAGAP_ENST00000338313.5_Missense_Mutation_p.H33Q|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606470.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	33					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.H33Q(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCAACAGGGGATGTTCCTTGA	0.373000													9	339					0	0	0.004482	0	0
EME2	197342	broad.mit.edu	37	16	1825152	1825152	+	Nonsense_Mutation	SNP	C	C	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr16:1825152C>A	ENST00000307394.7	+	4	588	c.588C>A	c.(586-588)tgC>tgA	p.C196*	EME2_ENST00000568449.1_Intron			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	190					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity	p.C196*(1)		central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CACTCTCATGCCCACAGCAGG	0.667000								Direct reversal of damage;Homologous recombination					17	131					3.51602e-12	4.47291e-12	0.008871	1	0
GPR156	165829	broad.mit.edu	37	3	119886215	119886215	+	Silent	SNP	G	G	A			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr3:119886215G>A	ENST00000464295.1	-	10	2554	c.2109C>T	c.(2107-2109)ggC>ggT	p.G703G	GPR156_ENST00000461057.1_Silent_p.G699G|GPR156_ENST00000315843.3_Silent_p.G703G			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	703						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G703G(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)		TTGGGGCCCGGCCAGAACCAG	0.637000													4	107					0	0	0.009096	0	0
OR2B11	127623	broad.mit.edu	37	1	247614375	247614375	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr1:247614375delC	ENST00000318749.6	-	1	933	c.910delG	c.(910-912)ctfs	p.A304fs		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTCCTCAGAGCCCCCTTCATA	0.458													9	763	---	---	---	---					
HIST1H4B	8366	broad.mit.edu	37	6	26027259	26027267	+	In_Frame_Del	DEL	CGTGTAGGT	CGTGTAGGT	-	rs139832518	byFrequency	TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr6:26027259_26027267delCGTGTAGGT	ENST00000377364.3	-	1	213_221	c.214_222delACCTACACG	c.(214-222)del	p.TYT72del		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TGGCGTGCTCCGTGTAGGTCACGGCGTCC	0.550											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	120	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			31	85	---	---	---	---					
KDM7A	80853	broad.mit.edu	37	7	139838949	139838949	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr7:139838949delA	ENST00000397560.2	-	2	333	c.236delT	c.(235-237)cgfs	p.L79fs	JHDM1D_ENST00000006967.5_Frame_Shift_Del_p.L79fs	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		79					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACAGTGATACAGGTCAATGTC	0.353													7	209	---	---	---	---					
ACO1	48	broad.mit.edu	37	9	32424665	32424666	+	Splice_Site	INS	-	-	AG			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr9:32424665_32424666insAG	ENST00000379923.1	+	11	1394		c.e11+2		ACO1_ENST00000309951.5_Splice_Site|ACO1_ENST00000541043.1_Splice_Site	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GGAGCCAAGGTAGGGGCCTGCG	0.515													26	106	---	---	---	---					
AGPAT2	10555	broad.mit.edu	37	9	139571073	139571073	+	Frame_Shift_Del	DEL	A	A	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr9:139571073delA	ENST00000371696.2	-	4	617	c.552delT	c.(550-552)ttfs	p.F184fs	AGPAT2_ENST00000538402.1_Frame_Shift_Del_p.F184fs|AGPAT2_ENST00000371694.3_Intron	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	184					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGCCCTTCTTAAAAGGCAGCA	0.632													26	102	---	---	---	---					
NLRP14	338323	broad.mit.edu	37	11	7079029	7079029	+	Frame_Shift_Del	DEL	C	C	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr11:7079029delC	ENST00000299481.4	+	7	2759	c.2413delC	c.(2413-2415)ttfs	p.L806fs		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	806					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			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)		TGGAGTGCAGCTTTTGTGTGA	0.383													24	210	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120580382	120580383	+	Frame_Shift_Ins	INS	-	-	C			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr12:120580382_120580383insC	ENST00000300648.6	-	44	5769_5770	c.5757_5758insG	c.(5755-5760)ttgtgafs	p.*1920fs		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1920					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGATCTCACGCAAGGTGCGGG	0.589													22	77	---	---	---	---					
HNRNPC	3183	broad.mit.edu	37	14	21681149	21681161	+	Frame_Shift_Del	DEL	CACTCTTAGAATT	CACTCTTAGAATT	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr14:21681149_21681161delCACTCTTAGAATT	ENST00000430246.2	-	5	3432_3444	c.481_493delAATTCTAAGAGTG	c.(481-495)gafs	p.NSKSG161fs	HNRNPC_ENST00000420743.2_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000336053.6_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000553753.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000553300.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000555309.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000320084.7_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000554969.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000557201.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556897.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000556628.1_Frame_Shift_Del_p.NSKSG94fs|HNRNPC_ENST00000554455.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556513.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000556142.1_Frame_Shift_Del_p.NSKSG174fs|HNRNPC_ENST00000555883.1_Intron|HNRNPC_ENST00000449098.1_Frame_Shift_Del_p.NSKSG161fs|HNRNPC_ENST00000555914.1_Frame_Shift_Del_p.NSKSG161fs			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	174						catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding	p.K176N(1)		breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CCCCGCTGTCCACTCTTAGAATTGAAGCCACTT	0.455													10	176	---	---	---	---					
NPHS1	4868	broad.mit.edu	37	19	36333449	36333451	+	Splice_Site	DEL	CTC	CTC	-			TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chr19:36333449_36333451delCTC	ENST00000378910.5	-	18	2335_2337	c.2334_splice	c.e18-1	p.GE779_splice	NPHS1_ENST00000353632.6_Splice_Site_p.GE779_splice	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	779	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTCATCTTCTCCCTGGAGGCC	0.581													20	133	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---					
KANTR	102723508	broad.mit.edu	37	X	53142506	53142507	+	RNA	INS	-	-	A	rs146094031		TCGA-38-4628-01A-01D-1265-08	TCGA-38-4628-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67bc44b7-92cf-4e8f-a7f6-c53bf34a17c6	850c7f34-0d4a-4e8e-a9a3-c4563d4dcb04	g.chrX:53142506_53142507insA	ENST00000604849.1	+	0	96																											AAAACACACACACAAAAAAAAA	0.356													5	6	---	---	---	---					
