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
HIST1H3B	8358	broad.mit.edu	37	6	26032138	26032138	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:26032138C>G	ENST00000244661.2	-	1	150	c.151G>C	c.(151-153)Gag>Cag	p.E51Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.E51Q(1)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CGGCGGATCTCGCGCAGAGCC	0.627000													31	48					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967199	106967199	+	RNA	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr14:106967199C>T	ENST00000390622.2	-	0	504																											TGATTATTCCCATCCACTCAA	0.552000													50	34					0	0	1	0	0
EXO5	64789	broad.mit.edu	37	1	40981315	40981315	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:40981315C>G	ENST00000372703.1	+	2	2173	c.1099C>G	c.(1099-1101)Ccc>Gcc	p.P367A	EXO5_ENST00000296380.4_Missense_Mutation_p.P367A|EXO5_ENST00000358527.2_Missense_Mutation_p.P367A					exonuclease 5																		TACACTGGCGCCCCAAGTCAA	0.502000													11	10					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140373345	140373345	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:140373345G>T	ENST00000072869.4	+	1	393	c.215G>T	c.(214-216)tGc>tTc	p.C72F	ADCK2_ENST00000476491.1_Missense_Mutation_p.C72F	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	72						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AGGGTCCGCTGCAGCGGGGCG	0.731000													3	17					0.184627	0.184627	1	1	0
ATP9B	374868	broad.mit.edu	37	18	77107902	77107902	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr18:77107902G>C	ENST00000426216.2	+	24	2832	c.2815G>C	c.(2815-2817)Ggc>Cgc	p.G939R	ATP9B_ENST00000543761.1_Missense_Mutation_p.G260R|ATP9B_ENST00000307671.7_Missense_Mutation_p.G939R	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	939					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CATGCACAGGGGCCTTATCAT	0.637000													13	20					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:7577534C>A	ENST00000420246.2	-	7	879	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGAGGATGGGCCTCCGGTTCA	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	11					1.01871e-10	1.14681e-10	1	1	0
ALK	238	broad.mit.edu	37	2	30142901	30142901	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:30142901G>A	ENST00000389048.3	-	1	1531	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	ALK_ENST00000431873.1_Missense_Mutation_p.R209C	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	209					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGGGAGGCGCGAATTGCCGCG	0.597000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				30	10					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99413824	99413824	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:99413824C>G	ENST00000397899.2	-	8	2924	c.2593G>C	c.(2593-2595)Gag>Cag	p.E865Q		NM_207362.2	NP_997245.2			KIAA1211-like																		TGGCCTCTCTCGGGCACCTTG	0.612000													20	43					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294023	62294023	+	Missense_Mutation	SNP	A	A	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:62294023A>C	ENST00000378024.4	-	5	8140	c.7866T>G	c.(7864-7866)atT>atG	p.I2622M	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2622					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGGCATTAATATCCACTT	0.542000													61	115					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80016247	80016247	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:80016247G>C	ENST00000354321.7	-	12	1737	c.1252C>G	c.(1252-1254)Cga>Gga	p.R418G	DUS1L_ENST00000306796.5_Missense_Mutation_p.R418G			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	418					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TTGGAGGCTCGCTTCTTGCAG	0.672000													39	57					0	0	1	0	0
MELK	9833	broad.mit.edu	37	9	36607624	36607624	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:36607624T>C	ENST00000543751.1	+	7	669	c.524T>C	c.(523-525)cTa>cCa	p.L175P	MELK_ENST00000545008.1_Missense_Mutation_p.L136P|MELK_ENST00000536860.1_Missense_Mutation_p.L159P|MELK_ENST00000298048.2_Missense_Mutation_p.L207P|MELK_ENST00000538311.1_Missense_Mutation_p.L13P|MELK_ENST00000541717.1_Missense_Mutation_p.L207P|MELK_ENST00000536987.1_Missense_Mutation_p.L76P|MELK_ENST00000536329.1_Missense_Mutation_p.L136P|MELK_ENST00000487398.1_3'UTR	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	207	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGTGGATTTCTACCATTTGAT	0.323000													54	89					0	0	1	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50462142	50462142	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:50462142C>T	ENST00000447370.2	-	7	1211	c.1121G>A	c.(1120-1122)gGg>gAg	p.G374E	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.G374E	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	374	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TGTGCCGTTCCCGAGGTTTTC	0.672000													16	16					0	0	1	0	0
RFC2	5982	broad.mit.edu	37	7	73646486	73646486	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:73646486C>T	ENST00000055077.3	-	11	1075	c.1015G>A	c.(1015-1017)Ggc>Agc	p.G339S	RFC2_ENST00000352131.3_Missense_Mutation_p.G305S	NM_181471.1	NP_852136.1	P35250	RFC2_HUMAN	replication factor C (activator 1) 2, 40kDa	339					cell cycle checkpoint|DNA strand elongation involved in DNA replication|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	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)	8						GCCAGGAGGCCTGCCATCTGC	0.473000													10	32					0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942797	11942797	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:11942797G>A	ENST00000304060.5	+	4	970	c.806G>A	c.(805-807)aGa>aAa	p.R269K		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CATAGTCCCAGATCCTATCGT	0.398000													22	37					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903680	129903680	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr10:129903680G>C	ENST00000368654.3	-	13	6799	c.6424C>G	c.(6424-6426)Cag>Gag	p.Q2142E	MKI67_ENST00000368653.3_Missense_Mutation_p.Q1782E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2142	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGTGGTCTGTGTGAGCTGC	0.493000													70	46					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113771	59113771	+	Silent	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr14:59113771C>G	ENST00000395153.3	+	4	2466	c.2319C>G	c.(2317-2319)gtC>gtG	p.V773V	DACT1_ENST00000556859.1_Silent_p.V529V|DACT1_ENST00000541264.2_Silent_p.V529V|DACT1_ENST00000335867.4_Silent_p.V810V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	810					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AAACCTTTGTCAAAATTAAGG	0.483000													37	21					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404691	197404691	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:197404691C>T	ENST00000367397.1	+	5	2699	c.1841C>T	c.(1840-1842)aCt>aTt	p.T614I	CRB1_ENST00000367400.3_Missense_Mutation_p.T1233I|CRB1_ENST00000535699.1_Missense_Mutation_p.T1209I|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.T1121I|CRB1_ENST00000544212.1_Missense_Mutation_p.T714I			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1233	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATTAGTCATACTAATGGCTAT	0.428000													14	22					0	0	1	0	0
IRS1	3667	broad.mit.edu	37	2	227662367	227662367	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:227662367G>T	ENST00000305123.5	-	1	2108	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCAGCCGGGCGCTGCCCCG	0.706000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	28					4.22769e-11	4.81701e-11	1	1	0
WDR70	55100	broad.mit.edu	37	5	37381716	37381716	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:37381716G>A	ENST00000265107.4	+	3	260	c.104G>A	c.(103-105)cGc>cAc	p.R35H	WDR70_ENST00000504564.1_Missense_Mutation_p.R35H	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	35										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAAAGCTCGCACATTTGAC	0.378000													45	68					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159038364	159038364	+	Silent	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:159038364A>G	ENST00000368130.4	-	3	678	c.390T>C	c.(388-390)caT>caC	p.H130H	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	130					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTACCTTAACATGAGGAGAGA	0.453000													34	36					0	0	1	0	0
HLA-DRA	3122	broad.mit.edu	37	6	32407797	32407797	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:32407797T>C	ENST00000395388.2	+	1	179	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.W24R	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	24					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						TCAGGAATCATGGGCTATCAA	0.468000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				20	25					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105900854	105900854	+	Splice_Site	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:105900854A>G	ENST00000393359.2	-	5	1466	c.1040T>C	c.(1039-1041)gTa>gCa	p.V347A	TGFBRAP1_ENST00000258449.1_Splice_Site_p.V347A			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	347					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCTGTACATTACCTGCAAGGA	0.418000													3	31					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													7	134					0	0	1	0	0
SORBS3	10174	broad.mit.edu	37	8	22423915	22423915	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:22423915G>A	ENST00000240123.7	+	13	1391	c.1008G>A	c.(1006-1008)cgG>cgA	p.R336R	SORBS3_ENST00000428103.1_5'UTR|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_3'UTR	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	336					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GTTCCGCCCGGTCCCTGAGTC	0.647000													25	24					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36845697	36845697	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:36845697C>T	ENST00000279024.4	-	13	3130	c.2859G>A	c.(2857-2859)acG>acA	p.T953T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	953										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TCTCGAGGTCCGTGCGTTGCC	0.657000													4	6					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19628106	19628106	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:19628106G>A	ENST00000438132.3	+	14	1515	c.1467G>A	c.(1465-1467)caG>caA	p.Q489Q	C16orf62_ENST00000448695.1_Silent_p.Q250Q|C16orf62_ENST00000543152.1_Silent_p.Q149Q|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000251143.5_Silent_p.Q400Q|C16orf62_ENST00000417362.2_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	400						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGATCTTCCAGTGCATCTCCT	0.582000													24	28					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36708192	36708192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr22:36708192C>A	ENST00000216181.5	-	14	1860	c.1630G>T	c.(1630-1632)Gag>Tag	p.E544*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	544	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATCACCTTCTCCACGAAGCTC	0.597000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				24	14					2.79863e-10	3.11327e-10	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281757	49281757	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr13:49281757C>T	ENST00000282018.3	+	1	807	c.804C>T	c.(802-804)acC>acT	p.T268T		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	268					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CACTGAGGACCGTCCACTTGA	0.498000													26	17					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	14412241	14412241	+	Splice_Site	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:14412241C>T	ENST00000382080.1	-	2	949	c.234G>A	c.(232-234)gtG>gtA	p.V78V	SGCZ_ENST00000421524.2_Splice_Site_p.V65V	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	65					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGTACTTACCACAGTGAAAT	0.313000													13	25					0	0	1	0	0
RAMP1	10267	broad.mit.edu	37	2	238820339	238820339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:238820339C>T	ENST00000254661.4	+	3	493	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	RAMP1_ENST00000409726.1_Missense_Mutation_p.P99S|RAMP1_ENST00000404910.2_Missense_Mutation_p.P99S|RAMP1_ENST00000403885.1_Missense_Mutation_p.P99S	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	121					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CATCCTCTACCCCTTCATCGT	0.657000													5	12					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899988	50899988	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr22:50899988G>C	ENST00000380817.3	-	22	2986	c.2803C>G	c.(2803-2805)Cgg>Ggg	p.R935G	SBF1_ENST00000390679.3_Missense_Mutation_p.R935G|SBF1_ENST00000348911.6_Missense_Mutation_p.R936G	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		GRAM.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AAGATGACCCGGTACGTGGTG	0.687000													7	2					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179174	123179174	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:123179174C>A	ENST00000371160.1	+	8	913	c.623C>A	c.(622-624)tCt>tAt	p.S208Y	STAG2_ENST00000354548.5_Missense_Mutation_p.S139Y|STAG2_ENST00000371157.3_Missense_Mutation_p.S208Y|STAG2_ENST00000371144.3_Missense_Mutation_p.S208Y|STAG2_ENST00000371145.3_Missense_Mutation_p.S208Y|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S208Y	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	208					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ACAGGATTGTCTGACTCACAA	0.353000													80	22					7.29696e-51	8.62786e-51	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144904563	144904563	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:144904563G>T	ENST00000370490.1	+	1	4875	c.620G>T	c.(619-621)gGg>gTg	p.G207V	SLITRK2_ENST00000413937.2_Missense_Mutation_p.G207V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.G207V|SLITRK2_ENST00000434188.2_Missense_Mutation_p.G207V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.G207V			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	207						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CATATTGGAGGGATCATGGAG	0.483000													42	12					7.05121e-23	8.18289e-23	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													6	61					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2614033	2614033	+	Nonsense_Mutation	SNP	G	G	A	rs1051346		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:2614033G>A	ENST00000399655.1	+	8	1404	c.1139G>A	c.(1138-1140)tGg>tAg	p.W380*	CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W380*|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W380*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	380					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAAGGGACTGGCCCTGGATC	0.507000													5	3					0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36137544	36137544	+	Splice_Site	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:36137544C>A	ENST00000296603.4	-	5	831		c.e5-1			NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2							integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAAGAGAATCCTAGATGGATA	0.323000													14	27					1.15088e-07	1.2224e-07	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3830776	3830776	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:3830776C>A	ENST00000262367.5	-	8	2589	c.1780G>T	c.(1780-1782)Gaa>Taa	p.E594*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E556*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	594	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGACATGTTCGTGCCAGCCT	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						12	9					9.31168e-06	9.6718e-06	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158576965	158576965	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:158576965C>G	ENST00000361284.1	+	1	737	c.737C>G	c.(736-738)aCa>aGa	p.T246R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T246R(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCGCACCTTACAGTGGTCATT	0.502000													123	97					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813997	123813997	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:123813997G>A	ENST00000321252.2	-	1	583	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCTGAGCAAGGGCCAACTGT	0.547000													21	21					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334339	37334339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr22:37334339C>T	ENST00000262825.5	+	14	2724	c.2507C>T	c.(2506-2508)cCc>cTc	p.P836L	CSF2RB_ENST00000536485.1_Missense_Mutation_p.P777L|CSF2RB_ENST00000403662.3_Missense_Mutation_p.P830L|CSF2RB_ENST00000406230.1_Missense_Mutation_p.P836L	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	830					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGCCTGGGGCCCGGCCCTCTC	0.642000													46	36					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95822369	95822369	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:95822369C>A	ENST00000416240.2	-	6	785	c.595G>T	c.(595-597)Gta>Tta	p.V199L	SLC25A13_ENST00000265631.5_Missense_Mutation_p.V199L|SLC25A13_ENST00000542654.1_Missense_Mutation_p.V91L	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	199					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CATTCTTCTACAAAAGGAGTC	0.418000													28	33					3.73148e-12	4.30379e-12	1	1	0
GLUL	2752	broad.mit.edu	37	1	182357738	182357738	+	Silent	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:182357738C>G	ENST00000311223.5	-	3	1031	c.135G>C	c.(133-135)cgG>cgC	p.R45R	GLUL_ENST00000331872.6_Silent_p.R45R|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000339526.4_Silent_p.R45R|GLUL_ENST00000417584.2_Silent_p.R45R	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	45					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	TGTCCAGGGTCCGGGTCTTGC	0.572000													51	34					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110491815	110491815	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:110491815G>A	ENST00000378402.5	+	54	9229	c.9125G>A	c.(9124-9126)cGa>cAa	p.R3042Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3042	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAATCATCACGAGAAAATAAT	0.318000										HNSCC(38;0.096)			3	4					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718755	42718755	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:42718755C>T	ENST00000230882.4	+	10	1336	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	GHR_ENST00000357703.3_Silent_p.G360G|GHR_ENST00000537449.1_Silent_p.G195G|GHR_ENST00000513625.1_3'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	382					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.G382G(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGAAGGATGGCGACTCTGGAC	0.463000													53	63					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72951100	72951100	+	Splice_Site	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:72951100C>T	ENST00000262209.4	-	19	2502	c.2295G>A	c.(2293-2295)acG>acA	p.T765T	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	765						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGAAATTACCGTGGTATCTA	0.294000													11	20					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547287	36547287	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr3:36547287A>G	ENST00000273183.3	+	8	1181	c.881A>G	c.(880-882)tAc>tGc	p.Y294C	STAC_ENST00000457375.2_Missense_Mutation_p.Y233C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	294	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTGCCTTGTACAAATTTGTA	0.313000													14	12					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47544811	47544811	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:47544811C>A	ENST00000300527.4	+	23	1851	c.1747C>A	c.(1747-1749)Ccc>Acc	p.P583T	COL6A2_ENST00000409416.1_Missense_Mutation_p.P583T|COL6A2_ENST00000310645.5_Missense_Mutation_p.P583T|COL6A2_ENST00000357838.4_Missense_Mutation_p.P583T|COL6A2_ENST00000397763.1_Missense_Mutation_p.P583T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	583	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGAGCCCGGCCCCCCTGGAGA	0.637000													7	25					5.4927e-09	5.90073e-09	1	1	0
ARHGDIB	397	broad.mit.edu	37	12	15095625	15095625	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:15095625T>C	ENST00000228945.4	-	6	581	c.437A>G	c.(436-438)tAt>tGt	p.Y146C	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.Y146C|ARHGDIB_ENST00000541546.1_Missense_Mutation_p.Y146C	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	146					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						CCGAGGTCCATAGCTGCCAAC	0.488000													4	56					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373000													7	142					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904544	55904544	+	Silent	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:55904544A>G	ENST00000301529.1	-	1	650	c.651T>C	c.(649-651)tcT>tcC	p.S217S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATTGAAATAAGATACTAGAA	0.358000													24	36					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405224	68405224	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:68405224C>T	ENST00000219334.5	-	3	1464	c.861G>A	c.(859-861)ggG>ggA	p.G287G	SMPD3_ENST00000563226.1_Silent_p.G287G|SMPD3_ENST00000568373.1_Silent_p.G287G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	287					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	TCCCTGAATCCCCGTCCTGCT	0.706000													7	14					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6579504	6579504	+	Splice_Site	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:6579504C>T	ENST00000377748.1	-	1	565		c.e1+1		PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AACATACTCACCGGTTCCTGA	0.522000													7	27					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283600	33283600	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:33283600C>T	ENST00000431845.2	-	2	1245	c.1094G>A	c.(1093-1095)aGt>aAt	p.S365N	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S365N	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGGGGCTCACTCAGGGTACG	0.572000													32	38					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42813770	42813770	+	Silent	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:42813770C>A	ENST00000398600.2	+	12	1883	c.858C>A	c.(856-858)atC>atA	p.I286I	MX1_ENST00000455164.2_Silent_p.I286I|MX1_ENST00000288383.6_Silent_p.I263I|MX1_ENST00000398598.3_Silent_p.I286I|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	286					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AGCAGGAGATCCAGGACCAGC	0.532000													29	36					2.81731e-10	3.11562e-10	1	1	0
NOL4	8715	broad.mit.edu	37	18	31432871	31432871	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr18:31432871C>G	ENST00000261592.5	-	11	2149	c.1852G>C	c.(1852-1854)Gaa>Caa	p.E618Q	NOL4_ENST00000535384.1_Missense_Mutation_p.E333Q|NOL4_ENST00000535475.1_Missense_Mutation_p.E399Q|NOL4_ENST00000589544.1_Missense_Mutation_p.E516Q|NOL4_ENST00000538587.1_Missense_Mutation_p.E544Q|NOL4_ENST00000269185.4_Missense_Mutation_p.E402Q	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	618						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCAGCTGATTCTCGATATCCT	0.453000													43	10					0	0	1	0	0
RAB3IL1	5866	broad.mit.edu	37	11	61666794	61666794	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:61666794C>T	ENST00000394836.2	-	9	1215	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.R327Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	353							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						ACCGTCCTGCCGCACCAGGCC	0.672000											OREG0021017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144904564	144904564	+	Silent	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:144904564G>T	ENST00000370490.1	+	1	4876	c.621G>T	c.(619-621)ggG>ggT	p.G207G	SLITRK2_ENST00000413937.2_Silent_p.G207G|SLITRK2_ENST00000447897.2_Silent_p.G207G|SLITRK2_ENST00000434188.2_Silent_p.G207G|SLITRK2_ENST00000428560.2_Silent_p.G207G			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	207						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATATTGGAGGGATCATGGAGA	0.478000													42	12					7.05121e-23	8.18289e-23	1	1	0
OR51B4	79339	broad.mit.edu	37	11	5322712	5322712	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:5322712G>A	ENST00000380224.1	-	1	514	c.465C>T	c.(463-465)ccC>ccT	p.P155P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGAATTATGGGCAAAATGG	0.463000													23	36					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167833839	167833839	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr4:167833839A>G	ENST00000357154.3	-	6	552	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	SPOCK3_ENST00000534949.1_Missense_Mutation_p.C43R|SPOCK3_ENST00000511269.1_Missense_Mutation_p.C136R|SPOCK3_ENST00000506886.1_Missense_Mutation_p.C139R|SPOCK3_ENST00000535728.1_Missense_Mutation_p.C47R|SPOCK3_ENST00000512648.1_Missense_Mutation_p.C136R|SPOCK3_ENST00000510741.1_Missense_Mutation_p.C136R|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.C139R|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.C136R|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000502330.1_Missense_Mutation_p.C139R|SPOCK3_ENST00000421836.2_Missense_Mutation_p.C88R|SPOCK3_ENST00000541354.1_Missense_Mutation_p.C19R|SPOCK3_ENST00000357545.4_Missense_Mutation_p.C136R	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	139	Kazal-like.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CACTGCTTGCAGGTGGATAAT	0.408000													14	24					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882629	144882629	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:144882629C>T	ENST00000369359.4	-	27	3839	c.3801G>A	c.(3799-3801)ggG>ggA	p.G1267G	PDE4DIP_ENST00000530740.1_Silent_p.G1267G|PDE4DIP_ENST00000369354.3_Silent_p.G1130G|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.G1130G|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1130					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTTACTATTCCCTTCCTTGC	0.468000			T	PDGFRB	MPD								44	100					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196436900	196436900	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:196436900A>T	ENST00000367433.5	-	7	577	c.476T>A	c.(475-477)tTa>tAa	p.L159*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.L159*|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.9_Nonsense_Mutation_p.L159*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.L159*	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	159						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TAGATTCCTTAAGGAAGGCCA	0.313000													25	17					0	0	1	0	0
IL17RE	132014	broad.mit.edu	37	3	9952719	9952719	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr3:9952719G>A	ENST00000454190.2	+	9	1058	c.973G>A	c.(973-975)Gat>Aat	p.D325N	IL17RE_ENST00000295980.3_Missense_Mutation_p.D325N|IL17RE_ENST00000421412.1_Missense_Mutation_p.D358N|IL17RE_ENST00000383814.3_Missense_Mutation_p.D325N	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	325						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TCGAGAGTCAGATGGGGTGAG	0.602000													23	28					0	0	1	0	0
ZNF486	90649	broad.mit.edu	37	19	20308061	20308061	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:20308061C>T	ENST00000335117.8	+	4	599	c.542C>T	c.(541-543)cCt>cTt	p.P181L	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						GAAAAAAAACCTTTGAAATAT	0.303000													21	32					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735424	119735424	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:119735424G>A	ENST00000541757.1	+	9	825	c.445G>A	c.(445-447)Gag>Aag	p.E149K	MARCO_ENST00000327097.4_Missense_Mutation_p.E227K			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	227	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						ACCCCAAGGAGAGAAGGGCAG	0.582000													4	6					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204954	10204954	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:10204954C>T	ENST00000418404.3	-	39	5897	c.5734G>A	c.(5734-5736)Gag>Aag	p.E1912K	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.E1912K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1912					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCGCCCTCTCCGCGGCCTCC	0.622000													5	54					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30268920	30268920	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:30268920G>T	ENST00000378981.3	+	4	631	c.310G>T	c.(310-312)Gtc>Ttc	p.V104F	MAGEB1_ENST00000397548.2_Missense_Mutation_p.V104F|MAGEB1_ENST00000397550.1_Missense_Mutation_p.V104F	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	104										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TGAGAGCTCAGTCAAAGATCC	0.478000													15	3					2.32078e-09	2.52201e-09	1	1	0
WDR81	124997	broad.mit.edu	37	17	1637420	1637420	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:1637420C>A	ENST00000409644.1	+	7	5089	c.5089C>A	c.(5089-5091)Cgc>Agc	p.R1697S	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.R328S|WDR81_ENST00000309182.5_Missense_Mutation_p.R646S|WDR81_ENST00000446363.1_Missense_Mutation_p.R336S|WDR81_ENST00000437219.2_Missense_Mutation_p.R494S|WDR81_ENST00000419248.1_Missense_Mutation_p.R470S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	470										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCAGCACCGCAAGAGCGT	0.677000													8	10					1.12685e-05	1.164e-05	1	1	0
MYH9	4627	broad.mit.edu	37	22	36708193	36708193	+	Silent	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr22:36708193C>A	ENST00000216181.5	-	14	1859	c.1629G>T	c.(1627-1629)gtG>gtT	p.V543V		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	543	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCACCTTCTCCACGAAGCTCT	0.602000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				25	14					4.59853e-10	5.0263e-10	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225729702	225729702	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:225729702T>C	ENST00000409592.3	-	12	1455	c.1342A>G	c.(1342-1344)Atg>Gtg	p.M448V	DOCK10_ENST00000258390.7_Missense_Mutation_p.M454V			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	454							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCCAAGAGCATCTGTCTGACA	0.463000													33	79					0	0	1	0	0
GPR42	2866	broad.mit.edu	37	19	35862375	35862375	+	Silent	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:35862375C>A	ENST00000454971.1	+	2	315	c.114C>A	c.(112-114)gtC>gtA	p.V38V	GPR42_ENST00000597214.1_Silent_p.V38V					G protein-coupled receptor 42 (gene/pseudogene)											endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCCTGGTGGTCTTCGTGGGCA	0.642000													10	28					0.000673444	0.000691844	1	1	0
ALKBH4	54784	broad.mit.edu	37	7	102098218	102098218	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:102098218C>T	ENST00000292566.3	-	3	571	c.532G>A	c.(532-534)Gag>Aag	p.E178K		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	178						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						ACCAGCCGCTCCCCCCACAGC	0.721000													4	5					0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100732273	100732273	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:100732273C>G	ENST00000306085.6	+	3	1977	c.1680C>G	c.(1678-1680)agC>agG	p.S560R		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	560					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTGCAGAGCGCGGTGGCCT	0.682000													20	66					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21550876	21550876	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:21550876G>A	ENST00000222584.3	+	6	2562	c.2344G>A	c.(2344-2346)Gaa>Aaa	p.E782K		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	782					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AACCAACATGGAAGAATTCTG	0.423000													34	41					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599509	3599509	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:3599509C>T	ENST00000302006.3	+	2	499	c.447C>T	c.(445-447)caC>caT	p.H149H	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TCAACGAGCACCGCAAGAATC	0.632000													50	30					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9057103	9057103	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:9057103C>G	ENST00000397910.4	-	3	30546	c.30343G>C	c.(30343-30345)Gaa>Caa	p.E10115Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10117	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATATAGTTCATGTCCAGAA	0.463000													19	17					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201965365	201965365	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:201965365G>A	ENST00000295640.4	+	4	871	c.828G>A	c.(826-828)aaG>aaA	p.K276K	RNPEP_ENST00000367286.3_Intron|RP11-465N4.5_ENST00000608886.1_RNA|RNPEP_ENST00000471105.1_3'UTR	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	276					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CAGGAGAGAAGCTTTTTGGAC	0.493000													47	149					0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103236281	103236281	+	Silent	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:103236281A>G	ENST00000251810.3	-	5	786	c.543T>C	c.(541-543)tcT>tcC	p.S181S	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Silent_p.S129S|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	181					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			TACCAAAAGTAGATTTTCTAT	0.343000								Modulation of nucleotide pools					68	99					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628299	29628299	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:29628299A>G	ENST00000278882.3	+	6	681	c.301A>G	c.(301-303)Agt>Ggt	p.S101G	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106G|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGAAGCAAAAAGTAAAACAGC	0.363000													4	99					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57797925	57797925	+	Silent	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr4:57797925A>G	ENST00000309042.7	+	4	3215	c.2901A>G	c.(2899-2901)gaA>gaG	p.E967E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	967					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAACAGTTGAAGAACCAGTTT	0.418000													11	13					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118264397	118264397	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:118264397C>T	ENST00000304058.4	-	4	304	c.234G>A	c.(232-234)cgG>cgA	p.R78R	DTWD2_ENST00000510708.1_Silent_p.R144R|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	144										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TACCAGACTTCCGGCAAACAG	0.308000													55	31					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54724566	54724566	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:54724566G>A	ENST00000391750.1	-	7	1226	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	LILRB3_ENST00000245620.9_Missense_Mutation_p.P364S|LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000407860.2_Missense_Mutation_p.P364S|LILRA6_ENST00000270464.5_Missense_Mutation_p.P364S|LILRB3_ENST00000346401.6_Missense_Mutation_p.P364S|LILRB3_ENST00000424807.1_Missense_Mutation_p.P364S|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.P364S			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	364	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CGCAGTGGGGGATGGGCTGCC	0.582000													16	54					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087252	39087252	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:39087252C>G	ENST00000609713.1	-	3	797	c.208G>C	c.(208-210)Gtg>Ctg	p.V70L	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V70L	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCTCCCTCACGTTGCCGTGA	0.478000													39	68					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520886	131520886	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:131520886G>A	ENST00000423981.1	+	2	1351	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	AMER3_ENST00000321420.4_Missense_Mutation_p.R414Q	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.R414Q(1)									ACCTTCCCACGGGACAGCTAC	0.607000													10	21					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167625880	167625880	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:167625880G>A	ENST00000519204.1	+	15	2678	c.2560G>A	c.(2560-2562)Ggt>Agt	p.G854S	TENM2_ENST00000545108.1_Missense_Mutation_p.G975S|TENM2_ENST00000403607.2_Missense_Mutation_p.G799S|TENM2_ENST00000518659.1_Missense_Mutation_p.G975S|TENM2_ENST00000520394.1_Missense_Mutation_p.G743S					teneurin transmembrane protein 2																		CGCAAATGGAGGTGCTTCCTT	0.557000													40	9					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7809948	7809948	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:7809948C>G	ENST00000380358.4	+	29	4614	c.4613C>G	c.(4612-4614)cCt>cGt	p.P1538R	CHD3_ENST00000330494.7_Missense_Mutation_p.P1479R|CHD3_ENST00000358181.4_Missense_Mutation_p.P1479R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1479					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGGGGTCCCTCGGGAGGGA	0.557000													24	16					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17110770	17110770	+	Splice_Site	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr10:17110770C>G	ENST00000377833.4	-	20	2691		c.e20-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTACCAATCTAAAATTAGA	0.279000													31	41					0	0	1	0	0
NAP1L1	4673	broad.mit.edu	37	12	76453937	76453937	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:76453937T>C	ENST00000261182.8	-	5	815	c.329A>G	c.(328-330)tAt>tGt	p.Y110C	NAP1L1_ENST00000548044.1_Missense_Mutation_p.Y69C|NAP1L1_ENST00000393263.3_Missense_Mutation_p.Y110C|NAP1L1_ENST00000549596.1_Missense_Mutation_p.Y110C|NAP1L1_ENST00000535020.2_Missense_Mutation_p.Y110C|NAP1L1_ENST00000547773.1_Missense_Mutation_p.Y47C|NAP1L1_ENST00000431879.3_Missense_Mutation_p.Y69C|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000552342.1_Missense_Mutation_p.Y110C|NAP1L1_ENST00000542344.1_Missense_Mutation_p.Y69C	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	110					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TAGAGGCTGATAGAGAACAGC	0.363000													20	39					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604745	59604745	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:59604745T>A	ENST00000541311.1	-	6	932	c.698A>T	c.(697-699)aAg>aTg	p.K233M	GIF_ENST00000257248.2_Missense_Mutation_p.K258M			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						TTTCCCCTGCTTAATCTCATT	0.468000													23	36					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2641345	2641345	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:2641345C>G	ENST00000380843.4	-	6	559	c.529G>C	c.(529-531)Gag>Cag	p.E177Q	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Missense_Mutation_p.E177Q	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	177					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	GGCCTCACCTCATGTTCCAGA	0.532000													52	41					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106824070	106824070	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:106824070G>C	ENST00000228347.4	+	14	1505	c.1283G>C	c.(1282-1284)aGa>aCa	p.R428T	POLR3B_ENST00000539066.1_Missense_Mutation_p.R370T	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	428					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TCTTTAAAGAGATTTAAAATG	0.433000													66	111					0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735908	158735908	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:158735908A>T	ENST00000335094.2	-	1	584	c.565T>A	c.(565-567)Tgc>Agc	p.C189S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					GTATCAGTGCAAGCCAAACTC	0.458000													23	66					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41864688	41864688	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr15:41864688G>A	ENST00000263798.3	+	15	2025	c.1801G>A	c.(1801-1803)Gtc>Atc	p.V601I	TYRO3_ENST00000559066.1_Missense_Mutation_p.V556I	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	601	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATCCCCATGGTCATCTTGCC	0.607000													22	47					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186107004	186107004	+	Silent	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:186107004C>A	ENST00000271588.4	+	89	14053	c.13824C>A	c.(13822-13824)acC>acA	p.T4608T	HMCN1_ENST00000367492.2_Silent_p.T4608T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4608	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCAACCAAACCAGGACCAGGA	0.498000													38	80					1.62957e-23	1.91475e-23	1	1	0
SNAP23	8773	broad.mit.edu	37	15	42807516	42807516	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr15:42807516A>G	ENST00000249647.3	+	5	698	c.230A>G	c.(229-231)aAc>aGc	p.N77S	SNAP23_ENST00000567094.1_Missense_Mutation_p.N77S|SNAP23_ENST00000349777.1_Missense_Mutation_p.N77S|SNAP23_ENST00000564153.1_Missense_Mutation_p.N77S|SNAP23_ENST00000397138.1_Missense_Mutation_p.N77S	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	77					cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAGAACTCAACAAATGCTGT	0.393000													15	44					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11148180	11148180	+	Splice_Site	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:11148180C>T	ENST00000544779.1	-	7	839	c.834G>A	c.(832-834)caG>caA	p.Q278Q	EXOSC10_ENST00000376936.4_Splice_Site_p.Q278Q|EXOSC10_ENST00000304457.7_Splice_Site_p.Q278Q			Q01780	EXOSX_HUMAN	exosome component 10	278					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGGTACTAACCTGGGGTTGTG	0.383000													39	84					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248660	20248660	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr14:20248660A>G	ENST00000315957.4	+	1	260	c.179A>G	c.(178-180)tAt>tGt	p.Y60C		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCCTATGTATTTCCTGTTG	0.393000													126	168					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953234	215953234	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:215953234T>C	ENST00000366943.2	-	55	11276	c.10890A>G	c.(10888-10890)aaA>aaG	p.K3630K	USH2A_ENST00000307340.3_Silent_p.K3630K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3630	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATGAGACCTTTCCCAACCT	0.493000										HNSCC(13;0.011)			47	34					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54308642	54308642	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:54308642T>C	ENST00000324134.6	-	5	2474	c.2306A>G	c.(2305-2307)aAt>aGt	p.N769S	NLRP12_ENST00000391775.3_Missense_Mutation_p.N769S|NLRP12_ENST00000535162.1_Missense_Mutation_p.N769S|NLRP12_ENST00000345770.5_Missense_Mutation_p.N770S|NLRP12_ENST00000391772.1_Missense_Mutation_p.N770S|NLRP12_ENST00000351894.4_Missense_Mutation_p.N769S|NLRP12_ENST00000391773.1_Missense_Mutation_p.N770S|NLRP12_ENST00000354278.3_Missense_Mutation_p.N769S	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	769					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAATTCTTATTGGCTATGAG	0.567000													64	80					0	0	1	0	0
TBC1D10C	374403	broad.mit.edu	37	11	67177161	67177161	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:67177161C>T	ENST00000312390.5	+	10	1306	c.1277C>T	c.(1276-1278)cCc>cTc	p.P426L	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.P426L|TBC1D10C_ENST00000526387.1_3'UTR	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	426	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCCCGGGGCCCCCCCATCGAG	0.682000													12	6					0	0	1	0	0
FAM89A	375061	broad.mit.edu	37	1	231155775	231155775	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:231155775C>A	ENST00000366654.4	-	2	423	c.389G>T	c.(388-390)aGc>aTc	p.S130I	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	130										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGTCTGGGCTGGAGGCTGC	0.577000													12	45					6.72482e-11	7.61607e-11	1	1	0
SLC5A11	115584	broad.mit.edu	37	16	24873949	24873949	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:24873949G>A	ENST00000347898.3	+	3	785	c.163G>A	c.(163-165)Gtg>Atg	p.V55M	SLC5A11_ENST00000424767.2_Missense_Mutation_p.V55M|SLC5A11_ENST00000567758.1_Missense_Mutation_p.V55M|SLC5A11_ENST00000565769.1_5'UTR|SLC5A11_ENST00000545376.1_Missense_Mutation_p.V55M|SLC5A11_ENST00000449109.2_5'UTR|SLC5A11_ENST00000568579.1_Missense_Mutation_p.V55M|SLC5A11_ENST00000539472.1_5'UTR|SLC5A11_ENST00000569071.1_5'UTR	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	55					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		AAGAGACACAGTGAAAGGCTA	0.468000													10	148					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42509880	42509880	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:42509880G>A	ENST00000262895.3	-	16	2257	c.2258C>T	c.(2257-2259)cCg>cTg	p.P753L	GRIK5_ENST00000593562.1_Missense_Mutation_p.P753L|GRIK5_ENST00000301218.4_Missense_Mutation_p.P753L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	753						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGTACCCAGCGGCATGCCAAT	0.652000													7	13					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145012848	145012848	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:145012848C>T	ENST00000322810.4	-	2	705	c.536G>A	c.(535-537)cGt>cAt	p.R179H	PLEC_ENST00000527096.1_Missense_Mutation_p.R69H|PLEC_ENST00000354958.2_Missense_Mutation_p.R20H|PLEC_ENST00000357649.2_Missense_Mutation_p.R46H|PLEC_ENST00000354589.3_Missense_Mutation_p.R42H|PLEC_ENST00000398774.2_Missense_Mutation_p.R10H|PLEC_ENST00000436759.2_Missense_Mutation_p.R69H|PLEC_ENST00000356346.3_Missense_Mutation_p.R28H|PLEC_ENST00000345136.3_Missense_Mutation_p.R42H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	179	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTGCACACGATCCCGCTC	0.627000													22	35					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031142	33031142	+	Silent	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:33031142G>T	ENST00000340811.4	-	3	780	c.672C>A	c.(670-672)ggC>ggA	p.G224G	PKP2_ENST00000070846.6_Silent_p.G224G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	224					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CGCTAACAGAGCCATGCTGGT	0.607000													17	3					3.52763e-06	3.68442e-06	1	1	0
PCDHGC3	5098	broad.mit.edu	37	5	140857475	140857475	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:140857475G>A	ENST00000308177.3	+	1	1896	c.1792G>A	c.(1792-1794)Gcg>Acg	p.A598T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTGGGACGCGGATGCAGG	0.602000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	6					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128793	147128793	+	Silent	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr3:147128793C>A	ENST00000282928.4	+	1	1623	c.894C>A	c.(892-894)ggC>ggA	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557000													23	39					2.89027e-11	3.31323e-11	1	1	0
CTBP1	1487	broad.mit.edu	37	4	1231903	1231903	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr4:1231903G>A	ENST00000510568.1	-	2	821	c.230C>T	c.(229-231)aCg>aTg	p.T77M	CTBP1_ENST00000382952.3_Intron|CTBP1_ENST00000515690.1_Intron|CTBP1_ENST00000290921.6_Intron			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	0					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGGGCCTGCCGTGCTCCCGTC	0.687000													6	9					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374403	163374403	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:163374403T>A	ENST00000332142.5	-	4	828	c.729A>T	c.(727-729)caA>caT	p.Q243H	KCNH7_ENST00000328032.4_Missense_Mutation_p.Q243H|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	243					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTCGGTCCCATTGCCTTTTGG	0.493000													36	48					0	0	1	0	0
IFI27L1	122509	broad.mit.edu	37	14	94563235	94563235	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr14:94563235G>A	ENST00000553664.1	+	3	144	c.19G>A	c.(19-21)Gga>Aga	p.G7R	IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000555523.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000554544.1_5'UTR			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane				lung(2)	2						ACCAACAGGTGGAAGTCCAAG	0.468000													5	6					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737700	248737700	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:248737700A>G	ENST00000328782.2	-	1	380	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCAGCCAGGAGGAAAAC	0.572000													7	48					0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87636931	87636931	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:87636931C>T	ENST00000284262.2	+	1	421	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	60	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		AGCGGCAACACGTACCAGGGC	0.677000													11	12					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64360260	64360260	+	Missense_Mutation	SNP	G	G	A	rs149722479		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:64360260G>A	ENST00000377574.1	+	2	1159	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Missense_Mutation_p.V138M|SLC22A12_ENST00000336464.7_Missense_Mutation_p.V138M|SLC22A12_ENST00000377572.1_Missense_Mutation_p.V138M	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	138			V -> M (in RH; strongly reduced urate transport).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GTGGAACCTCGTGTGTGACTC	0.637000													20	38					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38158326	38158326	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:38158326T>C	ENST00000378505.2	-	10	1304	c.1128A>G	c.(1126-1128)gaA>gaG	p.E376E	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.E376E|RPGR_ENST00000318842.7_Silent_p.E376E|RPGR_ENST00000338898.3_Silent_p.E376E|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000339363.3_Silent_p.E376E	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	376					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TTTCATCGAATTCAATTTCTT	0.418000													21	5					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86050456	86050456	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:86050456G>C	ENST00000414626.2	+	15	3509	c.2620G>C	c.(2620-2622)Gaa>Caa	p.E874Q	LRRCC1_ENST00000360375.3_Missense_Mutation_p.E894Q			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	894					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTAGAACTTGAAGAAATCAG	0.299000													7	10					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74074838	74074838	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:74074838G>T	ENST00000394070.2	+	5	1203	c.700G>T	c.(700-702)Gac>Tac	p.D234Y	STAMBP_ENST00000394073.1_Missense_Mutation_p.D234Y|STAMBP_ENST00000409707.1_Missense_Mutation_p.D234Y|STAMBP_ENST00000339566.3_Missense_Mutation_p.D234Y|STAMBP_ENST00000536064.1_Intron	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	234					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						ACCTGTGGTGGACAGGTCCTT	0.488000													9	51					3.09899e-07	3.27309e-07	1	1	0
MST1R	4486	broad.mit.edu	37	3	49940131	49940131	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr3:49940131T>C	ENST00000296474.3	-	1	939	c.912A>G	c.(910-912)ccA>ccG	p.P304P	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.P304P	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	304	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCTGCGTTTTGGAGCAAATC	0.647000													45	71					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80772155	80772155	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:80772155T>C	ENST00000466387.1	+	14	2063	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	CTNNA2_ENST00000541047.1_Silent_p.L447L|CTNNA2_ENST00000402739.4_Silent_p.L447L|CTNNA2_ENST00000496558.1_Silent_p.L447L|CTNNA2_ENST00000343114.3_Silent_p.L126L|CTNNA2_ENST00000540488.1_Silent_p.L447L|CTNNA2_ENST00000361291.4_Silent_p.L481L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	447					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGGGGTGAAATTAGTTCGGAT	0.468000													15	25					0	0	1	0	0
C6orf62	81688	broad.mit.edu	37	6	24716427	24716427	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:24716427T>C	ENST00000378119.4	-	2	2422	c.255A>G	c.(253-255)ttA>ttG	p.L85L	C6orf62_ENST00000540769.1_Silent_p.L27L|C6orf62_ENST00000378102.3_Silent_p.L56L	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	85						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						CATCCTTCTGTAAAAGCTCTA	0.403000													20	45					0	0	1	0	0
B4GALT1	2683	broad.mit.edu	37	9	33120514	33120514	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:33120514T>C	ENST00000379731.4	-	3	925	c.739A>G	c.(739-741)Agt>Ggt	p.S247G	B4GALT1_ENST00000541851.1_5'UTR|B4GALT1_ENST00000535206.1_Intron	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	247					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TCCACGTCACTAAACACAAAG	0.453000													31	44					0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47682761	47682761	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:47682761C>T	ENST00000262982.2	+	4	384	c.261C>T	c.(259-261)gcC>gcT	p.A87A	CSE1L_ENST00000396192.3_Silent_p.A87A|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	87	Importin N-terminal.				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTTGTGAAGCCGATCGAGTGG	0.418000													19	70					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140265457	140265457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr4:140265457C>T	ENST00000296543.5	+	6	978	c.655C>T	c.(655-657)Cag>Tag	p.Q219*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.Q219*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	219					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTATGAAAAGCAGATTTGTGA	0.323000													9	48					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35722213	35722213	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:35722213T>C	ENST00000314888.9	-	9	1204	c.851A>G	c.(850-852)aAg>aGg	p.K284R	TLN1_ENST00000540444.1_Missense_Mutation_p.K284R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	284	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCACAATTCTTGTGTGCCTG	0.448000													12	35					0	0	1	0	0
MIR371B	100616185	broad.mit.edu	37	19	54290986	54290986	+	RNA	SNP	T	T	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:54290986T>G	ENST00000595160.1	-	0	310				MIR371A_ENST00000362161.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1																						CGCCATCTTTTGAGTGTTACC	0.577000													14	26					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152623078	152623078	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:152623078C>G	ENST00000367255.5	-	92	18068	c.17467G>C	c.(17467-17469)Ggg>Cgg	p.G5823R	SYNE1_ENST00000423061.1_Missense_Mutation_p.G5752R|SYNE1_ENST00000448038.1_Missense_Mutation_p.G5752R|SYNE1_ENST00000265368.4_Missense_Mutation_p.G5823R|SYNE1_ENST00000341594.5_Missense_Mutation_p.G5435R|SYNE1_ENST00000356820.4_Missense_Mutation_p.G347R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5823					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGCCAGCCCCTCGACCTCG	0.627000										HNSCC(10;0.0054)			14	22					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42461823	42461823	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr22:42461823G>A	ENST00000396398.3	-	6	1210	c.678C>T	c.(676-678)ctC>ctT	p.L226L	NAGA_ENST00000402937.1_Silent_p.L226L|NAGA_ENST00000403363.1_Silent_p.L226L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	226					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCAGGATGGAGAGCACGCTCC	0.587000													12	0					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8628591	8628591	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:8628591C>G	ENST00000378641.3	+	6	984	c.509C>G	c.(508-510)cCt>cGt	p.P170R	PLCB1_ENST00000338037.6_Missense_Mutation_p.P170R|PLCB1_ENST00000378637.2_Missense_Mutation_p.P170R	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	170					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGGCGTATTCCTCTCAAAAAG	0.363000													36	89					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42813764	42813764	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:42813764G>A	ENST00000398600.2	+	12	1877	c.852G>A	c.(850-852)caG>caA	p.Q284Q	MX1_ENST00000455164.2_Silent_p.Q284Q|MX1_ENST00000288383.6_Silent_p.Q261Q|MX1_ENST00000398598.3_Silent_p.Q284Q|AP001610.5_ENST00000411427.1_RNA	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	284					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGGGCCAGCAGGAGATCCAGG	0.537000													22	42					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101127	92101127	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr13:92101127C>T	ENST00000377067.3	+	2	648	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	92						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTCAAACGTCCAGCTCTACAT	0.428000													26	53					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521576	125521576	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr10:125521576A>G	ENST00000241305.3	-	11	1743	c.1589T>C	c.(1588-1590)gTg>gCg	p.V530A	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	530					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGGGGACCGCACCAGGTCGTA	0.632000													18	14					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611289	44611289	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:44611289C>T	ENST00000336976.6	+	6	1230	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	326					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAAGAGCTTTCGTCAGAGATC	0.433000													19	125					0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129281528	129281528	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:129281528G>A	ENST00000287295.3	-	5	775	c.545C>T	c.(544-546)tCa>tTa	p.S182L	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.S95L|AIFM1_ENST00000319908.3_Missense_Mutation_p.S178L	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	182	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGGGTCATCTGAAAACCACAG	0.408000													50	10					0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212798536	212798536	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:212798536A>G	ENST00000294829.3	+	1	748	c.317A>G	c.(316-318)aAg>aGg	p.K106R	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	106								p.K106M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CAGGCCACCAAGAGAAAAAAA	0.547000													31	17					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117715368	117715368	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:117715368A>G	ENST00000368508.3	-	10	1319	c.1121T>C	c.(1120-1122)aTa>aCa	p.I374T	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I383T	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	374					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAGCCAATCTATGGAGATAGA	0.378000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	23					0	0	1	0	0
PDE9A	5152	broad.mit.edu	37	21	44182266	44182266	+	Missense_Mutation	SNP	G	G	T	rs140134669		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:44182266G>T	ENST00000291539.6	+	14	1219	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	PDE9A_ENST00000398234.3_Missense_Mutation_p.A286S|PDE9A_ENST00000539837.1_Missense_Mutation_p.A259S|PDE9A_ENST00000398229.3_Missense_Mutation_p.A253S|PDE9A_ENST00000398225.3_Missense_Mutation_p.A346S|PDE9A_ENST00000349112.3_Missense_Mutation_p.A259S|PDE9A_ENST00000398227.3_Missense_Mutation_p.A227S|PDE9A_ENST00000328862.6_Missense_Mutation_p.A361S|PDE9A_ENST00000398224.3_Missense_Mutation_p.A260S|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.A285S|PDE9A_ENST00000398236.3_Missense_Mutation_p.A301S|PDE9A_ENST00000335512.4_Missense_Mutation_p.A327S|PDE9A_ENST00000398232.3_Missense_Mutation_p.A320S|PDE9A_ENST00000380328.2_Missense_Mutation_p.A334S	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	387	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						CCACCACTGCGCCGTGGCCTT	0.602000													10	15					0.00621372	0.00624694	1	1	0
COLEC12	81035	broad.mit.edu	37	18	346304	346304	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr18:346304T>C	ENST00000400256.3	-	5	1525	c.1318A>G	c.(1318-1320)Ata>Gta	p.I440V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	440					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CCTTGTAGTATTGTAAAATTC	0.328000													33	41					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204957960	204957960	+	Silent	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:204957960G>T	ENST00000367171.4	+	24	3397	c.3069G>T	c.(3067-3069)ggG>ggT	p.G1023G	NFASC_ENST00000338586.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000339876.6_Intron			O94856	NFASC_HUMAN	neurofascin	1038	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAGCCCCTGGGGTAAAAGGTC	0.587000													19	40					0.00074312	0.000759275	1	1	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	100					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969280	235969280	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:235969280T>C	ENST00000389794.3	-	6	3330	c.3156A>G	c.(3154-3156)ctA>ctG	p.L1052L	LYST_ENST00000389793.2_Silent_p.L1052L|LYST_ENST00000536965.1_Silent_p.L1052L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1052					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTAGACTACCTAGTTCTGATG	0.363000													41	106					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29185273	29185273	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:29185273A>G	ENST00000321990.4	+	9	3266	c.2888A>G	c.(2887-2889)tAt>tGt	p.Y963C	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	963					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTGAAAAAATATTTTCCCTTA	0.313000													17	27					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53540692	53540692	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:53540692G>T	ENST00000025008.5	-	22	5059	c.4536C>A	c.(4534-4536)gaC>gaA	p.D1512E	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.D1512E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D1512E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1512					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CATGGCGTTCGTCTAGGATGA	0.378000													30	57					5.90632e-09	6.30903e-09	1	1	0
COASY	80347	broad.mit.edu	37	17	40717696	40717696	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:40717696A>G	ENST00000393818.2	+	8	1961	c.1505A>G	c.(1504-1506)gAg>gGg	p.E502G	COASY_ENST00000421097.2_Missense_Mutation_p.E502G|COASY_ENST00000420359.1_Missense_Mutation_p.E502G|COASY_ENST00000449624.1_Missense_Mutation_p.E207G|COASY_ENST00000590958.1_Missense_Mutation_p.E531G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	502	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CGCATTGTGGAGAGGGATGGC	0.587000													17	25					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420974	23420974	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:23420974C>G	ENST00000347397.1	+	2	316	c.70C>G	c.(70-72)Cac>Gac	p.H24D	CSTL1_ENST00000246020.2_Missense_Mutation_p.H24D|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	24						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CAAGCTGGGTCACTTCCAAAG	0.502000													47	40					0	0	1	0	0
CR1L	1379	broad.mit.edu	37	1	207818618	207818618	+	Silent	SNP	C	C	A	rs61739989	by1000genomes	TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:207818618C>A	ENST00000508064.2	+	1	100	c.40C>A	c.(40-42)Cgg>Agg	p.R14R		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	14						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CTTTCCTTCCCGGCGCTTTCC	0.667000													29	58					4.02929e-09	4.35348e-09	1	1	0
OR5AU1	390445	broad.mit.edu	37	14	21624033	21624033	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr14:21624033C>T	ENST00000304418.3	-	1	189	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCCTTTCATCCTTCTCCAGTG	0.552000													22	42					0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128305	56128305	+	Missense_Mutation	SNP	C	C	G	rs140049854		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:56128305C>G	ENST00000303039.3	+	1	615	c.583C>G	c.(583-585)Cca>Gca	p.P195A		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TACTTACTTACCAGAAACAGT	0.289000													13	26					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148722	34148722	+	Silent	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:34148722C>G	ENST00000346193.3	-	1	1725	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	558										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGTGGAGAC	0.577000													26	6					0	0	1	0	0
WFDC10B	280664	broad.mit.edu	37	20	44313472	44313472	+	Silent	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:44313472T>C	ENST00000330523.5	-	4	449	c.219A>G	c.(217-219)ctA>ctG	p.L73L	WFDC10B_ENST00000335769.2_Silent_p.L89L	NM_172006.2	NP_742003.1	Q8IUB3	WF10B_HUMAN	WAP four-disulfide core domain 10B	73	WAP.					extracellular region	peptidase inhibitor activity			lung(2)|ovary(1)|stomach(1)	4		Myeloproliferative disorder(115;0.0122)				CTCCCACTCATAGGATGCTCA	0.473000													27	82					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	101014156	101014156	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:101014156C>A	ENST00000375066.5	-	2	513	c.422G>T	c.(421-423)cGc>cTc	p.R141L	TBC1D2_ENST00000375064.1_Missense_Mutation_p.R141L|TBC1D2_ENST00000342112.5_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	141	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GAATTCCCAGCGCTTCATCTG	0.632000													16	39					3.41278e-10	3.75207e-10	1	1	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													3	71					0	0	1	0	0
DNAJC7	7266	broad.mit.edu	37	17	40148407	40148407	+	Silent	SNP	C	C	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:40148407C>T	ENST00000457167.4	-	4	563	c.327G>A	c.(325-327)ctG>ctA	p.L109L	DNAJC7_ENST00000316603.7_Silent_p.L53L|DNAJC7_ENST00000426588.3_Silent_p.L53L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	109					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGCATTCCCCAGAGAGAGGT	0.493000													14	21					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735448	40735448	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr20:40735448C>G	ENST00000373198.4	-	25	3660	c.3425G>C	c.(3424-3426)aGg>aCg	p.R1142T	PTPRT_ENST00000373190.1_Missense_Mutation_p.R1122T|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1133T|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1113T|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1132T|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1123T|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1126T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGTTGACCCTTTGGGCCCG	0.557000													69	62					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819612	214819612	+	Silent	SNP	C	C	G	rs149273910		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:214819612C>G	ENST00000366955.3	+	13	6867	c.6699C>G	c.(6697-6699)ctC>ctG	p.L2233L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2329	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACAAGTTACTCTCTTCATTTA	0.343000													27	85					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	11					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27784423	27784423	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:27784423T>C	ENST00000261588.4	+	23	4221	c.4202T>C	c.(4201-4203)aTt>aCt	p.I1401T		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1401										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GTCCCAGTCATTTTCCAGTTT	0.428000													6	3					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173190	51173190	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr16:51173190G>C	ENST00000440970.1	-	2	3083	c.2652C>G	c.(2650-2652)atC>atG	p.I884M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.I981M|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	981					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			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)			AATCTTCTTTGATGATTTTCT	0.458000													10	18					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630790	140630790	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:140630790G>A	ENST00000520439.1	-	2	899	c.836C>T	c.(835-837)cCg>cTg	p.P279L	KCNK9_ENST00000303015.1_Missense_Mutation_p.P279L	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	279						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCTGGGCCGCGGCTCCTCAGG	0.642000													23	32					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25349995	25349995	+	RNA	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr15:25349995G>T	ENST00000546682.1	+	0	2465				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						TACAGCACATGAATTGTACAG	0.398000													3	0					0.004672	0.00472224	1	1	0
FLG	2312	broad.mit.edu	37	1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:152280892G>A	ENST00000368799.1	-	3	6505	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597000									Ichthyosis				127	404					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17441651	17441651	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:17441651G>A	ENST00000159087.4	-	8	1137	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	327						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AACTGGGGGCGTGGCTCCTCC	0.612000													45	62					0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	116942	116942	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:116942G>A	ENST00000382500.2	-	1	1475	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	393					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CAGCAGCGCCGACGCGGCCGA	0.662000													4	63					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136446	116136446	+	Silent	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr9:116136446G>A	ENST00000238379.5	-	2	1086	c.189C>T	c.(187-189)taC>taT	p.Y63Y	HDHD3_ENST00000374180.3_Silent_p.Y63Y|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	63							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GGCTCAGGCCGTAGTTGGGGA	0.662000													11	13					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955945	35955945	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:35955945A>G	ENST00000274278.3	-	6	1454	c.1097T>C	c.(1096-1098)tTt>tCt	p.F366S	UGT3A1_ENST00000507113.1_Missense_Mutation_p.F332S|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000503189.1_Missense_Mutation_p.F366S	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	366						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGAGTGACAAAAAGACGGAT	0.478000													29	26					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458092	248458092	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:248458092G>T	ENST00000317996.1	-	1	788	c.789C>A	c.(787-789)caC>caA	p.H263Q		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAGTGGACCTGTGGGATTTGG	0.483000													6	132					2.74318e-10	3.06975e-10	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5528897	5528897	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr11:5528897C>G	ENST00000311659.4	-	2	2039	c.1892G>C	c.(1891-1893)cGt>cCt	p.R631P	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	631	UBA.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGGCTTCACGATTCAGAAA	0.527000													12	37					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51664597	51664597	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr8:51664597G>A	ENST00000522124.1	+	18	1982	c.1321G>A	c.(1321-1323)Ggt>Agt	p.G441S	SNTG1_ENST00000517473.1_Intron|SNTG1_ENST00000518864.1_Missense_Mutation_p.G441S|SNTG1_ENST00000276467.5_Intron	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	441					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TCAGCTTAAAGGTTCTTCAGA	0.343000													28	51					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14736389	14736389	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr19:14736389C>G	ENST00000253673.5	-	15	1935	c.1835G>C	c.(1834-1836)tGg>tCg	p.W612S	EMR3_ENST00000344373.4_Missense_Mutation_p.W560S|EMR3_ENST00000443157.2_Missense_Mutation_p.W486S|EMR3_ENST00000599900.1_Missense_Mutation_p.W397S	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	612					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CTCTCTAAACCACTTTTGATA	0.423000													36	64					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413209	72413209	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:72413209A>G	ENST00000395270.1	+	14	2923	c.1882A>G	c.(1882-1884)Acc>Gcc	p.T628A	POM121_ENST00000434423.2_Missense_Mutation_p.T893A|POM121_ENST00000257622.4_Missense_Mutation_p.T628A|POM121_ENST00000446813.1_Missense_Mutation_p.T628A|POM121_ENST00000358357.3_Missense_Mutation_p.T628A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	893	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTTGCCCACAACCACCACAGT	0.632000													12	105					0	0	1	0	0
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													2	4	---	---	---	---					
OR6K2	81448	broad.mit.edu	37	1	158669737	158669737	+	Frame_Shift_Del	DEL	G	G	-	rs76793318	byFrequency	TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:158669737delG	ENST00000359610.2	-	1	749	c.706delC	c.(706-708)cgcfs	p.R236fs		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AATGCTGTGCGGCGGCCTCCA	0.463													45	28	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					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.G197delG(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)			GGGGGGAgggggcggcggcggcg	0.665													4	4	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738862	65738863	+	RNA	DEL	TG	TG	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr2:65738862_65738863delTG	ENST00000377977.3	+	0	862																											TTTTTTTTTTTGTCCAGGAGGC	0.302													2	4	---	---	---	---					
FLT4	2324	broad.mit.edu	37	5	180043369	180043370	+	Frame_Shift_Ins	INS	-	-	G	rs67273336		TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr5:180043369_180043370insG	ENST00000261937.6	-	23	3294_3295	c.3216_3217insC	c.(3214-3219)ggcagtfs	p.S1073fs	FLT4_ENST00000502649.1_Frame_Shift_Ins_p.S1073fs|FLT4_ENST00000393347.3_Frame_Shift_Ins_p.S1073fs	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1073	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCACTCACACTGCCCTTGCGGA	0.609													20	7	---	---	---	---					
HIST1H4D	8360	broad.mit.edu	37	6	26189250	26189273	+	In_Frame_Del	DEL	GACGCTTGGCGCCACCCTTACCTA	GACGCTTGGCGCCACCCTTACCTA	-	rs150838709	byFrequency	TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:26189250_26189273delGACGCTTGGCGCCACCCTTACCTA	ENST00000340756.2	-	1	31_54	c.32_55delTAGGTAAGGGTGGCGCCAAGCGTC	c.(31-57)ctaggtaagggtggcgccaagcgtcac>cac	p.LGKGGAKR11del		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	11					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.G15C(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				ACCTTACGGTGACGCTTGGCGCCACCCTTACCTAGACCCTTTCC	0.545													19	44	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653405	30653405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr6:30653405delC	ENST00000274853.3	-	1	2267	c.391delG	c.(391-393)gatfs	p.D131fs	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.D131fs	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	131						cytoplasm|cytoskeleton	actin binding										GGGCTCTGATCCCGCATCTCC	0.612													50	72	---	---	---	---					
CAPZA2	830	broad.mit.edu	37	7	116544264	116544264	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr7:116544264delG	ENST00000361183.3	+	5	392	c.253delG	c.(253-255)ggafs	p.G85fs	CAPZA2_ENST00000490693.1_Frame_Shift_Del_p.G85fs|CAPZA2_ENST00000458284.2_Frame_Shift_Del_p.G85fs	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTGGGAAATGGAAAGTTTTT	0.323													20	26	---	---	---	---					
SYT10	341359	broad.mit.edu	37	12	33579073	33579074	+	Splice_Site	INS	-	-	G			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:33579073_33579074insG	ENST00000228567.3	-	2	804_805	c.508_509insC	c.(508-510)cgc>cCgc	p.R170fs	SYT10_ENST00000567656.1_5'UTR|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	170						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R170S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTCCTTACCGGGTTGATGAC	0.391													174	81	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49436403	49436403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr12:49436403delG	ENST00000301067.7	-	27	5807	c.5808delC	c.(5806-5808)cccfs	p.P1936fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGCTGCTGGAGGGCAGATTGC	0.557													12	15	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48954342	48954343	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr13:48954342_48954343insT	ENST00000267163.4	+	16	1601_1602	c.1463_1464insT	c.(1462-1467)gcgtgcfs	p.C489fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	489	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.A488V(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTTATTGGCGTGCGCTCTTG	0.257		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			11	6	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60343050	60343050	+	RNA	DEL	G	G	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr17:60343050delG	ENST00000581291.1	-	0	1164																				breast(2)|kidney(1)|lung(2)	5						TTTCCGGGCTGGGCCCCACCT	0.652													5	1	---	---	---	---					
U2AF1	7307	broad.mit.edu	37	21	44513300	44513302	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chr21:44513300_44513302delCCA	ENST00000459639.1	-	7	1438_1440	c.414_416delTGG	c.(412-417)cgtggc>cgc	p.G150del	U2AF1_ENST00000398137.1_In_Frame_Del_p.G150del|U2AF1_ENST00000380276.2_In_Frame_Del_p.G223del|U2AF1_ENST00000291552.4_In_Frame_Del_p.G223del|U2AF1_ENST00000486519.1_5'UTR			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	223					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						accgccaccgccacgaccacGGT	0.591			Mis		"""CLL, MDS"""								20	31	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44941859	44941860	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E7-A6ME-01A-22D-A32B-08	TCGA-E7-A6ME-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b31caac1-aea3-44d7-8da8-adae11b4f7ce	0d628ec8-169a-4040-afee-a3cfc33abb17	g.chrX:44941859_44941860delAG	ENST00000377967.4	+	21	3224_3225	c.3183_3184delAG	c.(3181-3186)tcagatfs	p.D1062fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.D1069fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.D983fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.D1017fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1062					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAGACCACTCAGATAGTGAATC	0.317			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								27	3	---	---	---	---