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
C14orf133	63894	broad.mit.edu	37	14	77908979	77908979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:77908979G>A	uc001xtt.2	-	10	1075	c.658C>T	c.(658-660)Cga>Tga	p.R220*	C14orf133_uc001xtu.2_Nonsense_Mutation_p.R220*|C14orf133_uc001xtv.2_Nonsense_Mutation_p.R220*|C14orf133_uc021rwu.1_Nonsense_Mutation_p.R220*|C14orf133_uc010tvj.2_Nonsense_Mutation_p.R171*	NM_022067	NP_071350	Q9H9C1	VIPAR_HUMAN	Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA.	220					endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	early endosome|late endosome|recycling endosome	protein binding							Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCAACCTGTCGCACCTCCAGC	0.433000													65	77					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480916	7480916	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:7480916G>C	uc002gho.2	+	18	3361	c.798G>C	c.(796-798)ttG>ttC	p.L266F	EIF4A1_uc002ghr.1_Missense_Mutation_p.L266F|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	266	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TATGTGACTTGTATGAAACCC	0.532000													59	11					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36226432	36226432	+	Missense_Mutation	SNP	C	C	T	rs114727604	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:36226432C>T	uc001bzi.3	-	7	1170	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	CLSPN_uc009vux.3_Missense_Mutation_p.G364S	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	364					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTCAGAACCTTTACTATGG	0.388000													35	45					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651459	1651459	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:1651459G>T	uc001lty.3	+	0	427	c.389G>T	c.(388-390)gGc>gTc	p.G130V	MOB2_uc001ltq.2_Intron	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN	Homo sapiens keratin associated protein 5-5 (KRTAP5-5), mRNA.	130	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GGGGGCTGTGGCTCCTGTGGG	0.692000													4	27					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231375862	231375862	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:231375862A>G	uc002vqt.3	+	23	2216	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	SP100_uc002vqu.1_Missense_Mutation_p.N692S|SP100_uc010fxp.1_Missense_Mutation_p.N10S	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	692					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCACAACAATACCTTAGTT	0.383000													17	41					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225684223	225684223	+	Silent	SNP	T	T	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:225684223T>G	uc010fwz.1	-	28	3446	c.3207A>C	c.(3205-3207)cgA>cgC	p.R1069R	DOCK10_uc002vob.2_Silent_p.R1063R|DOCK10_uc002voc.2_5'Flank	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1069							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)		ACACATACCCTCGGTCCATAA	0.318000													6	83					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22322019	22322019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:22322019C>A	uc002zvs.3	-	7	1243	c.808G>T	c.(808-810)Gca>Tca	p.A270S	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.A270S|TOP3B_uc010gtl.3_Missense_Mutation_p.A270S	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	270					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AACATCTGTGCGATCTCCCGG	0.507000													32	46					0	0	1	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282921	154282921	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154282921G>C	uc004fmw.3	+	4	694	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R		NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN	Homo sapiens FUN14 domain containing 2 (FUNDC2), mRNA.	182						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428000													4	86					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111503618	111503618	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:111503618A>T	uc003vfy.3	-	22	2552	c.2283T>A	c.(2281-2283)gcT>gcA	p.A761A	DOCK4_uc003vfw.3_Silent_p.A202A|DOCK4_uc003vfx.3_Silent_p.A761A|DOCK4_uc003vga.1_Silent_p.A366A	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	761					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAGAAACACAGCCTTAAAAA	0.468000													6	12					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157154782	157154782	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:157154782G>A	uc003fbl.4	+	0	203	c.60G>A	c.(58-60)tcG>tcA	p.S20S	VEPH1_uc003fbj.2_Intron|VEPH1_uc003fbk.2_Intron|VEPH1_uc010hvu.2_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	Homo sapiens pentraxin 3, long (PTX3), mRNA.	20					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGAGAACTCGGATGATTATG	0.468000													64	60					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40996148	40996148	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:40996148G>A	uc002ony.3	+	3	574	c.488G>A	c.(487-489)cGc>cAc	p.R163H	SPTBN4_uc002onx.3_Missense_Mutation_p.R163H|SPTBN4_uc002onz.3_Missense_Mutation_p.R163H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	163	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCATCCTGCGCTTCCAGGTG	0.577000													18	20					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118868962	118868962	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:118868962G>C	uc001pul.3	+	0	111	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	19										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGTGGTCGCGGGCACGTTTA	0.672000													4	4					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105393494	105393494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:105393494C>T	uc003yly.4	-	8	1621	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	DPYS_uc010mcf.1_Missense_Mutation_p.A68T	NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	498					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAGTGTGGCGACTTCTCCC	0.488000													40	83					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:125834175G>A	uc001uhe.1	+	1	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	77						integral to membrane		p.R77Q(2)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507000													23	136					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154020488	154020488	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154020488C>T	uc004fmp.2	-	1	329	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	MPP1_uc011mzv.2_Missense_Mutation_p.A29T|MPP1_uc010nvg.2_Missense_Mutation_p.A59T|MPP1_uc011mzw.2_Missense_Mutation_p.A59T|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	59					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542000													7	52					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17999206	17999206	+	Silent	SNP	C	C	T	rs121909177		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:17999206C>T	uc002nhr.4	+	12	1940	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	531					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTCTATTACGGTGCCCTGG	0.572000													53	78					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986928	1986928	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:1986928G>A	uc002lup.1	-	7	1317	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G	BTBD2_uc002luo.1_Silent_p.G118G	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	439						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTGAAGCCCGTGTCGT	0.637000													45	10					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30409441	30409441	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:30409441C>T	uc003agv.4	+	13	1742	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	MTMR3_uc003agu.4_Missense_Mutation_p.R472C|MTMR3_uc003agw.4_Missense_Mutation_p.R472C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	472	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E471K(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAATGAACGTTGCCCAGT	0.473000													19	155					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058119	9058119	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:9058119G>C	uc002mkp.3	-	2	29531	c.29327C>G	c.(29326-29328)tCa>tGa	p.S9776*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9778	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						TTTAGGCTCTGAGCTTGTATC	0.468000													10	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683805	100683805	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:100683805A>T	uc003uxp.1	+	2	9161	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3036	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACCGGCATACCAATCTCAA	0.507000													242	223					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728304	152728304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:152728304C>T	uc021zhb.1	-	42	6791	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	SYNE1_uc003qot.4_Missense_Mutation_p.D2197N|SYNE1_uc003qou.4_Missense_Mutation_p.D2190N|SYNE1_uc010kjb.1_Missense_Mutation_p.D2173N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2190					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CTCAGCCTATCCATGTTTTCT	0.443000										HNSCC(10;0.0054)			25	16					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63810670	63810670	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:63810670C>T	uc001jlt.2	+	4	1213	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ARID5B_uc010qil.2_Missense_Mutation_p.R253C|ARID5B_uc001jlu.2_Missense_Mutation_p.R10C	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	253					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCAGACCACGCAAAAAGAA	0.398000													22	44					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882353	16882353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:16882353G>C	uc001ioo.3	-	61	10060	c.10008C>G	c.(10006-10008)taC>taG	p.Y3336*		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3336	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			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)	GAAGCTGTAAGTAATTCTGCG	0.443000													4	71					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19213897	19213897	+	Silent	SNP	C	C	T	rs147549410		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:19213897C>T	uc001mpk.2	-	1	216	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_003476	NP_003467	P50461	CSRP3_HUMAN	Homo sapiens cysteine and glycine-rich protein 3 (cardiac LIM protein) (CSRP3), transcript variant 1, mRNA.	33	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGTGGAAACACGTCTTGTGGA	0.517000													3	47					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912525	23912525	+	Silent	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr13:23912525C>T	uc001uon.2	-	9	6079	c.5490G>A	c.(5488-5490)ctG>ctA	p.L1830L	SACS_uc001uoo.2_Silent_p.L1683L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1830					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAAACTTCAGAGCCTCTC	0.488000													60	76					0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647694	79647694	+	RNA	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:79647694C>T	uc010jaj.1	-	0		c.92G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		AACCTGCTCACGCTGGAGCGC	0.592000													22	27					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263944	33263944	+	Missense_Mutation	SNP	T	T	C	rs115737063	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:33263944T>C	uc003odv.3	-	5	1189	c.629A>G	c.(628-630)aAt>aGt	p.N210S	RGL2_uc003odu.3_5'UTR|RGL2_uc010jur.3_Intron|RGL2_uc003odw.3_Missense_Mutation_p.N128S|RGL2_uc011drb.2_Missense_Mutation_p.N128S	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	210	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGACCGGAGATTGCGGATGAG	0.662000													8	223					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938797	154938797	+	Silent	SNP	A	A	G	rs77859168	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:154938797A>G	uc001ffv.3	-	7	1401	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	SHC1_uc001ffw.3_Silent_p.L394L|SHC1_uc001ffx.3_Silent_p.L284L|SHC1_uc001ffy.3_Silent_p.L284L|SHC1_uc001ffz.1_Silent_p.L165L	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	394	CH1.				Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTTACCAATGTAGCTCCC	0.607000													3	43					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356737	42356737	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:42356737G>A	uc001wvm.3	+	2	2107	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_uc010ana.3_Silent_p.R303R	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	303	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483000										HNSCC(30;0.082)			42	44					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282410	152282410	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:152282410C>T	uc001ezu.1	-	2	4988	c.4952G>A	c.(4951-4953)aGa>aAa	p.R1651K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1651	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)			GCCTGATTGTCTGGAGCTCTC	0.552000									Ichthyosis				160	209					0	0	1	0	0
FAM18B2	201158	broad.mit.edu	37	17	15406266	15406266	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15406266C>A	uc002goq.2	-	5	926	c.743G>T	c.(742-744)tGg>tTg	p.W248L	CDRT4_uc021tqm.1_Intron|FAM18B2_uc010vvx.2_Intron|FAM18B2_uc010vvw.2_Intron|TRNA_Sup_uc021tqn.1_5'Flank	NM_145301	NP_660344	Q96ET8	F18B2_HUMAN	Homo sapiens family with sequence similarity 18, member B2 (FAM18B2), transcript variant 1, mRNA.	248						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0872)|BRCA - Breast invasive adenocarcinoma(8;0.0581)|READ - Rectum adenocarcinoma(1115;0.0967)		CCTCCAGGCCCAAAGCCGCAA	0.587000													19	8					0	0	1	0	0
FAM22G	441457	broad.mit.edu	37	9	99697711	99697711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:99697711G>A	uc022bkp.1	+	2	836	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	FAM22G_uc004awq.2_Missense_Mutation_p.R272Q	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	272										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				AACTTTGACCGGATGATTTTC	0.652000													7	95					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709884	196709884	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:196709884G>T	uc001gtj.4	+	17	3158	c.2918G>T	c.(2917-2919)tGc>tTc	p.C973F	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	973	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGCAAAATGCTTAGGAGAA	0.358000													33	33					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94353187	94353187	+	Splice_Site	SNP	T	T	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94353187T>A	uc003kkx.2	-	2	721	c.721_splice	c.e2-1	p.K241_splice	MCTP1_uc003kkv.2_Splice_Site_p.K20_splice|MCTP1_uc003kkw.2_Splice_Site_p.K20_splice|MCTP1_uc003kkz.2_Intron	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	241					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTATTATTTTCTGGAAAAC	0.343000													27	22					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77930359	77930359	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:77930359C>T	uc001ozh.3	-	9	2092	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	GAB2_uc001ozg.3_Missense_Mutation_p.V626M	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	664					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GACTGCCGCACGTCTGTCCAC	0.592000													39	37					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138381	203138381	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:203138381C>T	uc001gzh.1	-	8	1289	c.1230_splice	c.e8+1	p.K410_splice		NM_004997	NP_004988	Q13203	MYBPH_HUMAN	Homo sapiens myosin binding protein H (MYBPH), mRNA.	410	Ig-like C2-type 2.			RASPKP -> ELHQA (in Ref. 1; AAA36339).	cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCCCTCACCTTGGGTGAAG	0.647000													11	18					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545388	65545388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65545388T>C	uc001ofo.4	-	0	2435	c.2405A>G	c.(2404-2406)gAt>gGt	p.D802G		NM_138368	NP_612377	Q2VPB7	YK046_HUMAN	Homo sapiens adaptor protein 5 (DKFZp761E198), mRNA.	802							protein binding			lung(1)	1						GGCCCAGTCATCGGTCCGCAG	0.697000													5	2					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761444	26761444	+	Silent	SNP	C	C	T	rs146313552	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:26761444C>T	uc003acb.3	+	12	2902	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	SEZ6L_uc003acd.3_Silent_p.Y838Y|SEZ6L_uc011akd.2_Silent_p.Y902Y|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Silent_p.Y902Y|SEZ6L_uc003acc.3_Silent_p.Y902Y|SEZ6L_uc003acf.1_Silent_p.Y675Y|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	902	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATGTGCTACGAAGGCTTTG	0.552000													11	88					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538242	44538242	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr20:44538242C>T	uc002xqm.2	-	3	993	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	PLTP_uc002xql.2_Missense_Mutation_p.R45Q|PLTP_uc010zxj.2_Intron|PLTP_uc002xqq.2_Missense_Mutation_p.R102Q|PLTP_uc002xqn.2_Missense_Mutation_p.R133Q|PLTP_uc002xqo.2_Intron	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	133					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGATCCCGGGAGAGCTC	0.597000													7	138					0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94782294G>A	uc003kla.1	+	7	968	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	FAM81B_uc010jbe.1_Missense_Mutation_p.E104K	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	308								p.Y307Y(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279000													9	20					0	0	1	0	0
FAM89B	23625	broad.mit.edu	37	11	65340909	65340909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65340909C>A	uc001oel.2	+	1	688	c.367C>A	c.(367-369)Cac>Aac	p.H123N	FAM89B_uc001oem.2_Missense_Mutation_p.H110N|FAM89B_uc001oen.2_Missense_Mutation_p.T126K|EHBP1L1_uc001oeo.4_5'Flank	NM_001098785	NP_001092255	Q8N5H3	FA89B_HUMAN	Homo sapiens family with sequence similarity 89, member B (FAM89B), transcript variant 1, mRNA.	110										large_intestine(1)|urinary_tract(2)	3						GGACTACAAACACCTGTGCCA	0.612000													3	30					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135612748	135612748	+	Silent	SNP	G	G	A	rs144002982	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:135612748G>A	uc003yup.3	-	6	2592	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_uc003yun.3_Silent_p.T790T|ZFAT_uc003yuo.3_Silent_p.T790T|ZFAT_uc010meh.3_Silent_p.T790T|ZFAT_uc010mej.3_Silent_p.T740T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T790T|ZFAT_uc003yur.3_Silent_p.T790T|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448000													17	231					0	0	1	0	0
LOC440041	440041	broad.mit.edu	37	11	55065642	55065642	+	RNA	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:55065642C>A	uc021qjb.1	-	0		c.67G>T			LOC440041_uc001nhl.1_Non-coding_Transcript					Homo sapiens SPRY domain containing 5 pseudogene (LOC440041), non-coding RNA.																		ACAGGGCCGGCAAAAGCTGTG	0.488000													25	34					0	0	1	0	0
LRRC37A5P	652972	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:114371322T>A	uc022bly.1	-	1		c.784A>T								Homo sapiens chromosome 9 open reading frame 29 (C9orf29), non-coding RNA.																		TTTCTGTTCATTCTGGGCTTC	0.483000													3	26					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153943759	153943759	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:153943759delT	uc021xgc.1	+	10	2334	c.2050delT	c.(2050-2052)tttfs	p.F684fs	ARHGEF26_uc011bog.1_Frame_Shift_Del_p.F684fs|ARHGEF26_uc011boh.1_Frame_Shift_Del_p.F684fs|ARHGEF26_uc011boi.1_5'UTR	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	684	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGTCTACTTCTTTCTCTTTAA	0.403													15	31	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130857100	130857102	+	In_Frame_Del	DEL	AAC	-	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:130857100_130857102delAAC	uc003kvn.2	-	6	814_816	c.608_610delGTT	c.(607-612)agttta>ata	p.203_204SL>I	RAPGEF6_uc003kvp.2_In_Frame_Del_p.253_254SL>I|RAPGEF6_uc003kvo.2_In_Frame_Del_p.203_204SL>I|RAPGEF6_uc010jdi.2_In_Frame_Del_p.203_204SL>I|RAPGEF6_uc010jdj.2_In_Frame_Del_p.203_204SL>I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_In_Frame_Del_p.203_204SL>I|RAPGEF6_uc010jdk.3_In_Frame_Del_p.203_204SL>I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	203					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCAGATAAACTGCTGCTTCC	0.404													33	58	---	---	---	---					
ATP8B5P	158381	broad.mit.edu	37	9	35450410	35450411	+	RNA	INS	-	T	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:35450410_35450411insT	uc010mko.3	+	10		c.1820_1821insT			ATP8B5P_uc010mkp.3_Non-coding_Transcript|ATP8B5P_uc010mkn.2_Non-coding_Transcript|ATP8B5P_uc003zwu.2_Intron					Homo sapiens ATPase, class I, type 8B, member 5, pseudogene (ATP8B5P), transcript variant 2, non-coding RNA.																		TTGACTTGAGGTTTTTTTTTCC	0.342													2	4	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26580952	26580952	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:26580952delA	uc001rhg.3	-	48	7256	c.6839delT	c.(6838-6840)ttcfs	p.F2280fs	ITPR2_uc009zjg.1_Frame_Shift_Del_p.F431fs	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2280					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTGGAGAAGAAAAACAGCAT	0.393													17	27	---	---	---	---					
IL27	246778	broad.mit.edu	37	16	28511176	28511178	+	In_Frame_Del	DEL	CTC	-	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr16:28511176_28511178delCTC	uc002dqc.3	-	4	549_551	c.526_528delGAG	c.(526-528)gagdel	p.E176del	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding	p.E176delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCCCTtcctctcctcctcctcc	0.685													3	3	---	---	---	---					
