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
EPHA8	2046	broad.mit.edu	37	1	22903296	22903296	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:22903296C>T	uc001bfx.1	+	2	871	c.746C>T	c.(745-747)gCg>gTg	p.A249V	EPHA8_uc001bfw.3_Missense_Mutation_p.A249V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	249	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTGCAGCGCGGAGGGCGAG	0.687												
TSSK3	81629	broad.mit.edu	37	1	32828323	32828323	+	Silent	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:32828323C>A	uc001bvf.3	+	0	462	c.21C>A	c.(19-21)tcC>tcA	p.S7S	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	7					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCTGCTCTCCAATGGGTACC	0.502												
GRIK3	2899	broad.mit.edu	37	1	37356541	37356541	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:37356541C>G	uc001caz.2	-	1	407	c.272G>C	c.(271-273)aGc>aCc	p.S91T	GRIK3_uc001cba.1_Missense_Mutation_p.S91T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	91					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCCTCGAAGCTGTCATGGAA	0.527												
ITIH2	3698	broad.mit.edu	37	10	7763617	7763617	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:7763617C>T	uc001ijs.3	+	7	906	c.744C>T	c.(742-744)caC>caT	p.H248H		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H248L(1)|p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTAGGCGCACGTCTCCTTCA	0.587												
EXOC6	54536	broad.mit.edu	37	10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:94653171G>A	uc010qnr.2	+	2	358	c.215G>A	c.(214-216)cGt>cAt	p.R72H	EXOC6_uc001kie.3_Missense_Mutation_p.R51H|EXOC6_uc001kif.4_Missense_Mutation_p.R56H|EXOC6_uc001kig.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.3_Missense_Mutation_p.R56H|EXOC6_uc009xuc.3_Missense_Mutation_p.R56H	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	56					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333												
SORBS1	10580	broad.mit.edu	37	10	97194458	97194458	+	Missense_Mutation	SNP	T	T	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:97194458T>A	uc001kkp.3	-	2	138	c.93A>T	c.(91-93)ttA>ttT	p.L31F	SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Missense_Mutation_p.L19F|SORBS1_uc001kko.3_Missense_Mutation_p.L31F|SORBS1_uc001kkq.3_Missense_Mutation_p.L31F|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Missense_Mutation_p.L31F|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.L31F|SORBS1_uc010qoe.2_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	31					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGCGTGCGCGTAAAGGGTCGG	0.483												
NLRP14	338323	broad.mit.edu	37	11	7065151	7065151	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:7065151A>G	uc001mfb.1	+	3	2217	c.1894A>G	c.(1894-1896)Agg>Ggg	p.R632G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	632					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCGGACCATCAGGCTGTCTGT	0.423												
OR5AN1	390195	broad.mit.edu	37	11	59132528	59132528	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:59132528G>A	uc010rks.2	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGTCATGACTGCTATAT	0.408												
ATM	472	broad.mit.edu	37	11	108172455	108172455	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:108172455A>G	uc001pkb.1	+	34	5643	c.5258A>G	c.(5257-5259)tAt>tGt	p.Y1753C	ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.2_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1753					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGGAGATTTATAAGATGACA	0.343			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)		
BUD13	84811	broad.mit.edu	37	11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	rs139478949		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:116633616C>T	uc001ppn.3	-	3	723	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.R230Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	230	Arg-rich.							p.R230Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGACGGGCTCGCCTAGGAGG	0.532												
TIMELESS	8914	broad.mit.edu	37	12	56822356	56822356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:56822356C>T	uc001slf.2	-	11	1553	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	462					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGCTCTCCCTCACAGCCTC	0.557												
KCNC2	3747	broad.mit.edu	37	12	75601221	75601221	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:75601221G>A	uc001sxg.1	-	1	1087	c.543C>T	c.(541-543)gaC>gaT	p.D181D	KCNC2_uc009zry.3_Silent_p.D181D|KCNC2_uc001sxe.3_Silent_p.D181D|KCNC2_uc001sxf.3_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	181					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTCCTCGTCGTCGCCGGGGT	0.726												
NTN4	59277	broad.mit.edu	37	12	96076575	96076575	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:96076575T>G	uc001tei.3	-	6	1867	c.1418A>C	c.(1417-1419)cAt>cCt	p.H473P	NTN4_uc009ztf.3_Missense_Mutation_p.H473P|NTN4_uc009ztg.3_Missense_Mutation_p.H436P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	473					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGGAACTTCATGATACCAGTC	0.423												
FOXA1	3169	broad.mit.edu	37	14	38061515	38061515	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:38061515G>A	uc001wuf.3	-	1	786	c.474C>T	c.(472-474)gaC>gaT	p.D158D	FOXA1_uc010tpz.2_Silent_p.D125D	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	158					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding	p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTCTTGGCGTcgccgccgc	0.697												
TMEM229B	161145	broad.mit.edu	37	14	67940157	67940157	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:67940157C>T	uc001xjk.3	-	2	894	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.G162S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	162						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGACATGGCCGTTGGCCAGG	0.632												
RPS6KL1	83694	broad.mit.edu	37	14	75388196	75388196	+	Nonsense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:75388196C>A	uc010tux.2	-	1	577	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Nonsense_Mutation_p.E17*|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	17						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAAGGCTCAGGCTCCAGG	0.607												
ACAN	176	broad.mit.edu	37	15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:89386832C>T	uc010upo.1	+	5	1378	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_uc002bmx.3_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	335					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCAACCAGACGGGCTACCCC	0.657												
LRRK1	79705	broad.mit.edu	37	15	101567475	101567475	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:101567475C>T	uc002bwr.3	+	17	2734	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	805	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAGATTTCCTGCAAGAGCC	0.562												
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	G	A	rs150520281	by1000genomes	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259												
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:48917794C>T	uc002isv.4	+	1	1839	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652												
ABCA10	10349	broad.mit.edu	37	17	67188731	67188731	+	Missense_Mutation	SNP	C	C	T	rs138792982	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:67188731C>T	uc010dfa.1	-	16	2723	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	615	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCCCACTTTCGCTTCAGAAA	0.328												
DNAH17	8632	broad.mit.edu	37	17	76557880	76557880	+	Silent	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:76557880G>A	uc010dhp.2	-	11	1877	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	DNAH17_uc002jvv.2_Silent_p.P286P	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577												
ANKRD12	23253	broad.mit.edu	37	18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr18:9258903C>T	uc002knv.3	+	8	5902	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1880						nucleus		p.P1880S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383												
ATCAY	85300	broad.mit.edu	37	19	3907801	3907801	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:3907801C>T	uc010xhz.2	+	5	929	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATCAY_uc002lyy.4_Missense_Mutation_p.T143M|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GACGGCACGACGGAGGACGGC	0.637												
HOMER3	9454	broad.mit.edu	37	19	19043763	19043784	+	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-	rs147820524	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	uc002nku.2	-	4	1135_1156	c.482_503delATGCCCCCGGCCCCACAGAGCG	c.(481-504)gatgcccccggccccacagagcgcfs	p.D161fs	HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	161					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	0.671												
LSM14A	26065	broad.mit.edu	37	19	34710329	34710329	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:34710329G>A	uc002nvb.4	+	6	1011	c.815G>A	c.(814-816)cGt>cAt	p.R272H	LSM14A_uc002nva.4_Missense_Mutation_p.R272H|LSM14A_uc010xru.2_Missense_Mutation_p.R231H|LSM14A_uc002nvc.4_Missense_Mutation_p.R78H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGAGAGGGCGTGGGGGTCAT	0.443												
SDC1	6382	broad.mit.edu	37	2	20403674	20403674	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr2:20403674T>C	uc002rdo.1	-	2	826	c.527A>G	c.(526-528)cAc>cGc	p.H176R	SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	176					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGGGAGTGTGAAGGTCAGC	0.662												
CHGB	1114	broad.mit.edu	37	20	5903378	5903378	+	Silent	SNP	C	C	T	rs149359798	by1000genomes	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:5903378C>T	uc002wmg.3	+	3	894	c.588C>T	c.(586-588)aaC>aaT	p.N196N	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	196						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483												
CD93	22918	broad.mit.edu	37	20	23066544	23066544	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:23066544C>T	uc002wsv.3	-	0	434	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	96	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTGGAGCCCAATCCAGAAC	0.642												
REM1	28954	broad.mit.edu	37	20	30070096	30070096	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:30070096A>T	uc002wwa.3	+	3	714	c.430A>T	c.(430-432)Agc>Tgc	p.S144C		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	144					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGATAAAAGCTGGAGCCA	0.587												
RBL1	5933	broad.mit.edu	37	20	35690525	35690525	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:35690525C>A	uc002xgi.3	-	7	1124	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	349					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACATTAGCCTGTGCTGTC	0.423												
KRTAP11-1	337880	broad.mit.edu	37	21	32253366	32253366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr21:32253366G>A	uc002yov.3	-	0	509	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	160						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGGTTCTTCGGCAGCTGGAC	0.562												
KCNH8	131096	broad.mit.edu	37	3	19574895	19574895	+	Silent	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:19574895A>G	uc003cbk.1	+	15	2823	c.2628A>G	c.(2626-2628)acA>acG	p.T876T	KCNH8_uc010hex.1_Silent_p.T337T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	876						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGTAACAACATTGACTCAGG	0.413												
ERC2	26059	broad.mit.edu	37	3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468												
SLC33A1	9197	broad.mit.edu	37	3	155547581	155547581	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:155547581C>T	uc003fan.4	-	4	1840	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SLC33A1_uc003fao.2_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_Non-coding_Transcript	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	460					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAGTTTCCTCCCAGATTG	0.428												
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597												
ABCG2	9429	broad.mit.edu	37	4	89061129	89061129	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:89061129C>T	uc003hrg.3	-	1	512	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ABCG2_uc003hrh.3_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	7					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATAAAAACTTCGACATTACTG	0.413												
TRAM1L1	133022	broad.mit.edu	37	4	118005603	118005603	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:118005603A>G	uc003ibv.4	-	0	1134	c.947T>C	c.(946-948)aTt>aCt	p.I316T		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	316	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGAGAGTAATTAAGTTCCA	0.408												
DNAH5	1767	broad.mit.edu	37	5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	rs141072655		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:13901576C>T	uc003jfd.2	-	13	1879	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	613	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGAGGATCGTATTTCTGC	0.448									Kartagener syndrome			
PRDM9	56979	broad.mit.edu	37	5	23527545	23527545	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:23527545G>A	uc003jgo.3	+	10	2530	c.2348G>A	c.(2347-2349)cGg>cAg	p.R783Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	783					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGA	0.577										HNSCC(3;0.000094)		
EMB	133418	broad.mit.edu	37	5	49698154	49698154	+	Splice_Site	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:49698154C>T	uc003jom.3	-	7	1127	c.878_splice	c.e7-1	p.D293_splice	EMB_uc010ivq.3_Splice_Site_p.D87_splice|EMB_uc003jol.3_Splice_Site_p.D224_splice|EMB_uc011cpy.2_Splice_Site_p.D243_splice	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	293						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCCCCTCATCTGTGTAACAA	0.318												
OCLN	4950	broad.mit.edu	37	5	68805174	68805174	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:68805174C>T	uc003jwu.3	+	2	693	c.257C>T	c.(256-258)aCg>aTg	p.T86M	OCLN_uc003jwv.4_Missense_Mutation_p.T86M|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	86	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGGCCTCCACGCTTGCCTGG	0.507												
PKHD1	5314	broad.mit.edu	37	6	51491843	51491843	+	Missense_Mutation	SNP	G	G	A	rs151198392		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:51491843G>A	uc003pah.1	-	65	12013	c.11737C>T	c.(11737-11739)Cgc>Tgc	p.R3913C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3913			R -> H (in dbSNP:rs2661487).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCTCGGCGTTTGGATGAG	0.433												
COL12A1	1303	broad.mit.edu	37	6	75898089	75898089	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:75898089C>A	uc021zbv.1	-	6	1021	c.986G>T	c.(985-987)aGt>aTt	p.S329I	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S329I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	329					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTTCTCCACTAACCAATTC	0.373												
DOPEY1	23033	broad.mit.edu	37	6	83841949	83841949	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:83841949C>T	uc011dyy.2	+	17	2904	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q891*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	891					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGCATCACCAGAAGAGTGT	0.373												
PREP	5550	broad.mit.edu	37	6	105771589	105771589	+	Missense_Mutation	SNP	C	C	T	rs141737006		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:105771589C>T	uc003prc.3	-	9	1501	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	423					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACCTCTCGGAAAACTCT	0.408												
DNAH11	8701	broad.mit.edu	37	7	21939697	21939697	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:21939697C>T	uc003svc.3	+	81	13314	c.13283C>T	c.(13282-13284)cCg>cTg	p.P4428L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4428					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATGGACACCCGCCAAGGGAA	0.488									Kartagener syndrome			
PPP1R9A	55607	broad.mit.edu	37	7	94879506	94879506	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:94879506T>C	uc003unp.3	+	8	2551	c.2269T>C	c.(2269-2271)Tat>Cat	p.Y757H	PPP1R9A_uc010lfj.3_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.3_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.2_Missense_Mutation_p.Y757H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	757	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAAAGCCAGTATCAGGCCTT	0.373										HNSCC(28;0.073)		
IRF5	3663	broad.mit.edu	37	7	128585975	128585975	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:128585975G>A	uc003voh.3	+	2	393	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003vog.3_Missense_Mutation_p.R91H|IRF5_uc010llt.3_Missense_Mutation_p.R91H|IRF5_uc003voi.3_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.4_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	91					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCCAACCTGCGCTGTGCCCTT	0.612												
OR2A12	346525	broad.mit.edu	37	7	143792799	143792799	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:143792799C>T	uc011kty.2	+	0	599	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A200V(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTATTTGCGGGTTCTGCG	0.532												
CSMD1	64478	broad.mit.edu	37	8	3057257	3057257	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:3057257C>T	uc022aqr.1	-	32	5563	c.5173G>A	c.(5173-5175)Ggc>Agc	p.G1725S	CSMD1_uc011kwj.2_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.3_Missense_Mutation_p.G882S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1726	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGAAGCCGCGGGCAGAG	0.512												
MSR1	4481	broad.mit.edu	37	8	15978016	15978016	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:15978016C>T	uc010lsu.3	-	8	1251	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	MSR1_uc003wwz.3_Missense_Mutation_p.R378H|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	378	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CACTTCCCAGCGATCGTCACA	0.562												
CDCA2	157313	broad.mit.edu	37	8	25341581	25341581	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:25341581C>A	uc003xep.1	+	9	1697	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	407					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTGATGAATCTTTGCCAGCA	0.428												
PKHD1L1	93035	broad.mit.edu	37	8	110424605	110424605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:110424605C>T	uc003yne.3	+	19	2301	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	733					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)			ACCAAACAGACGACCATATGG	0.368										HNSCC(38;0.096)		
DGAT1	8694	broad.mit.edu	37	8	145541816	145541818	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:145541816_145541818delCTT	uc003zbv.3	-	7	959_961	c.691_693delAAG	c.(691-693)aagdel	p.K231del		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	231					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACTGCTGGCCTTCTTCCCTGCA	0.709												
ZNF250	58500	broad.mit.edu	37	8	146108024	146108024	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:146108024T>C	uc003zeq.4	-	5	676	c.559A>G	c.(559-561)Act>Gct	p.T187A	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.T182A|ZNF250_uc010mgg.3_Missense_Mutation_p.T182A	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGTGCGGAGTGAGTGGCATG	0.498												
MOB3B	79817	broad.mit.edu	37	9	27455216	27455216	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:27455216C>T	uc003zqn.3	-	1	829	c.333G>A	c.(331-333)gcG>gcA	p.A111A		NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN	Homo sapiens MOB kinase activator 3B (MOB3B), mRNA.	111							metal ion binding|protein binding										GAGCTGGCAGCGCTGTTGGCT	0.488												
FBP2	8789	broad.mit.edu	37	9	97329591	97329591	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:97329591C>T	uc004auv.3	-	4	733	c.666G>A	c.(664-666)gcG>gcA	p.A222A	BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	222					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAGTGGTGGCCGCATCAAAAT	0.463												
ARSE	415	broad.mit.edu	37	X	2873479	2873479	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:2873479C>T	uc011mhh.2	-	4	821	c.360G>A	c.(358-360)acG>acA	p.T120T	ARSE_uc011mhi.2_Silent_p.T41T|ARSE_uc004crc.4_Silent_p.T95T			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	95					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTATCTGCCCGTGAGGAAGG	0.527												
TLR7	51284	broad.mit.edu	37	X	12903821	12903821	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:12903821C>T	uc004cvc.3	+	2	333	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	65					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGTATTCCCACGAACACCACG	0.488												
DMD	1756	broad.mit.edu	37	X	32407637	32407637	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:32407637G>A	uc004dda.1	-	31	4743	c.4499C>T	c.(4498-4500)tCa>tTa	p.S1500L	DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1500	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTAGCTGTGACTGTACTAC	0.393												
P2RY10	27334	broad.mit.edu	37	X	78216970	78216970	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:78216970G>A	uc022bzl.1	+	0	953	c.953G>A	c.(952-954)cGc>cAc	p.R318H	P2RY10_uc004ede.3_Missense_Mutation_p.R318H|P2RY10_uc004edf.3_Missense_Mutation_p.R318H	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	318						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAACTATCCCGCCATGGCAGT	0.438												
RPA4	29935	broad.mit.edu	37	X	96139918	96139918	+	Silent	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:96139918C>T	uc004efv.4	+	0	1012	c.609C>T	c.(607-609)gaC>gaT	p.D203D	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	203					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCATCCAGGACGAAGTGCTGC	0.522								Other identified genes with known or suspected DNA repair function				
RAB9B	51209	broad.mit.edu	37	X	103080537	103080537	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:103080537T>C	uc004ell.2	-	2	517	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.I60V	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	60					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTGTCCCAGATCTGGAGGGTT	0.507												
KLHL13	90293	broad.mit.edu	37	X	117043525	117043525	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:117043525A>T	uc011mtp.2	-	5	1247	c.1114T>A	c.(1114-1116)Tgg>Agg	p.W372R	KLHL13_uc004eqk.3_Missense_Mutation_p.W318R|KLHL13_uc004eql.3_Missense_Mutation_p.W369R|KLHL13_uc011mtn.2_Missense_Mutation_p.W209R|KLHL13_uc011mto.2_Missense_Mutation_p.W363R|KLHL13_uc011mtq.2_Missense_Mutation_p.W353R|KLHL13_uc004eqm.3_Missense_Mutation_p.W327R|KLHL13_uc022cde.1_Missense_Mutation_p.W353R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	369					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACGATTTCCACTCATGGGCC	0.493												
MAGEA8	4107	broad.mit.edu	37	X	149013837	149013837	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:149013837C>T	uc022cgq.1	+	0	791	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MAGEA8_uc022cgo.1_Missense_Mutation_p.A264V|MAGEA8_uc004fdw.2_Missense_Mutation_p.A264V|MAGEA8_uc022cgp.1_Missense_Mutation_p.A264V	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGCCAGGCGCCCGGCAGT	0.577												
PNCK	139728	broad.mit.edu	37	X	152937465	152937465	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:152937465C>T	uc011myu.2	-	4	719	c.533G>A	c.(532-534)gGt>gAt	p.G178D	PNCK_uc011myt.2_Missense_Mutation_p.G112D|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G122D|PNCK_uc011myw.2_Missense_Mutation_p.G122D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	95	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGCCACCCGTCACCCT	0.662												
RAB39B	116442	broad.mit.edu	37	X	154490194	154490194	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:154490194T>C	uc004fne.3	-	1	815	c.536A>G	c.(535-537)gAg>gGg	p.E179G		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	179					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTT	0.463