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
DNAH8	1769	broad.mit.edu	37	6	38820472	38820472	+	Silent	SNP	G	G	A	rs61757626		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:38820472G>A	uc021yzh.1	+	39	5578	c.5469G>A	c.(5467-5469)ccG>ccA	p.P1823P	DNAH8_uc003ooe.2_Silent_p.P1606P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393000													3	44					0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:161206260C>G	uc001fzx.3	-	1	299	c.96G>C	c.(94-96)aaG>aaC	p.K32N	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.K32N|NR1I3_uc001fzm.3_Intron|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Missense_Mutation_p.K32N|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Missense_Mutation_p.K32N|NR1I3_uc001fzq.3_Missense_Mutation_p.K32N|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.K32N|NR1I3_uc001fzw.3_Missense_Mutation_p.K32N|NR1I3_uc001fzz.3_Missense_Mutation_p.K32N|NR1I3_uc001fzh.3_Intron|NR1I3_uc001gab.3_Missense_Mutation_p.K32N|NR1I3_uc001gac.3_Intron|NR1I3_uc001fzp.3_Missense_Mutation_p.K32N|NR1I3_uc001fzg.3_Intron|NR1I3_uc001gaa.3_Missense_Mutation_p.K32N|NR1I3_uc001fzj.3_Intron|NR1I3_uc001fzi.3_Intron|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Intron|NR1I3_uc010pkn.1_Missense_Mutation_p.K32N	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	32					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAAGAAACCCTTGCAGCCCT	0.537000													40	53					0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8384447	8384447	+	RNA	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:8384447C>T	uc010sgk.2	-	4		c.1341G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CAAACCCTTTCGAGCAGCGCC	0.577000													13	43					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54186159	54186159	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:54186159G>T	uc003pcj.2	+	2	630	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	162					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAATTAATTGAACAGGTCAA	0.398000													3	32					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:220329189C>T	uc010fwg.3	+	8	2740	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.R122W|SPEG_uc002vln.1_Missense_Mutation_p.R122W|SPEG_uc002vlp.1_Missense_Mutation_p.R122W|SPEG_uc002vlq.3_Missense_Mutation_p.R65W	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	914	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCAGCGGCGCTTTGC	0.652000													30	73					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537738	1537738	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr16:1537738C>T	uc010uvf.2	-	1	360	c.360G>A	c.(358-360)ttG>ttA	p.L120L		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	125						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGTGAGGTCCAAGGCCCGCA	0.701000													33	49					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768854	88768854	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:88768854G>A	uc001kee.2	+	11	2049	c.845G>A	c.(844-846)gGc>gAc	p.G282D	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	282	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCGTCACTGGCCAAACGTGC	0.507000													5	194					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414144	105414144	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr14:105414144G>A	uc010axc.1	-	6	7764	c.7644C>T	c.(7642-7644)gaC>gaT	p.D2548D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D2448D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2548						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACTTGGC	0.637000													5	310					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:64491035G>A	uc010ssp.1	+	14	1749	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SRGAP1_uc001srv.2_Missense_Mutation_p.A502T	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	565	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAATCCTTTGGCTGATGACCA	0.353000													6	38					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093139	30093139	+	RNA	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr18:30093139C>T	uc010dmc.3	+	0		c.1514C>T								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		CCACGACCACCGACTTTTACT	0.607000													5	5					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714198	138714198	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:138714198G>A	uc004cgr.4	-	10	2309	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	CAMSAP1_uc004cgq.4_Missense_Mutation_p.S660L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.S492L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	770						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAGTTTGGCCGACTCTTCCTC	0.557000													4	153					0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:30954349A>G	uc003nsh.2	+	1	648	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S117G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.A132V(2)|p.S133R(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612000													5	338					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215804	20215804	+	Silent	SNP	T	T	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:20215804T>G	uc003cbu.3	-	5	1374	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_uc003cbw.3_Intron|SGOL1_uc003cbv.3_Intron|SGOL1_uc003cbt.3_Intron|SGOL1_uc010hfa.3_Intron|SGOL1_uc003cbs.3_Silent_p.R407R|SGOL1_uc003cbr.3_Intron|SGOL1_uc003ccc.3_Intron|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Intron|SGOL1_uc003cca.3_Silent_p.R407R|SGOL1_uc003cby.3_Intron|SGOL1_uc003cbx.3_Intron|SGOL1_uc003cbz.3_Silent_p.R407R	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	407					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAGTGCTCTTTTAGCTAGA	0.413000													7	94					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133814172	133814172	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:133814172G>A	uc001qgx.4	-	2	583	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	118	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGTCCAGCATGAGCACT	0.577000													3	33					0	0	1	0	0
EIF5A2	56648	broad.mit.edu	37	3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:170624851C>T	uc003fhd.3	-	2	327	c.197G>A	c.(196-198)gGc>gAc	p.G66D		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A2 (EIF5A2), mRNA.	66					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity	p.T65T(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343000													3	29					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183368748	183368748	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:183368748G>A	uc003flv.3	+	2	899	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	KLHL24_uc003flw.3_Missense_Mutation_p.E202K|KLHL24_uc003flx.3_Missense_Mutation_p.E202K	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	202	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCCAGCACGAAGAATTTCT	0.378000													4	86					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37602836	37602836	+	Missense_Mutation	SNP	C	C	T	rs143937169		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr22:37602836C>T	uc003ara.3	-	1	1069	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SSTR3_uc003arb.3_Missense_Mutation_p.R336H|SSTR3_uc021wos.1_Missense_Mutation_p.R336H	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	336			R -> C (in dbSNP:rs4988469).		G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CTCCTGGCTGCGCACACGGCG	0.657000													34	68					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103701637	103701637	+	Splice_Site	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr13:103701637A>G	uc001vpy.4	-	5	1516	c.919_splice	c.e5+1	p.F307_splice		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	307					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGATTCCTTACATCCTAAGA	0.423000													4	96					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106500261	106500261	+	Missense_Mutation	SNP	G	G	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:106500261G>C	uc001tlj.1	-	1	1663	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	95	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACCATGTCTTGTTCATCCTTA	0.338000													3	42					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:39974421G>T	uc002hxv.2	+	2	797	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L	FKBP10_uc002hxw.1_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	158					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACCGTGCAGGTGAGCACATT	0.622000													27	28					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72858969	72858969	+	Silent	SNP	A	A	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:72858969A>C	uc010wrl.2	-	11	1662	c.1575T>G	c.(1573-1575)ccT>ccG	p.P525P	GRIN2C_uc002jlt.1_5'Flank|GRIN2C_uc010wrh.1_5'Flank|GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.2_Silent_p.P430P|FDXR_uc010wrj.2_Silent_p.P480P|FDXR_uc002jlw.3_Silent_p.P239P|FDXR_uc002jlx.3_Silent_p.P488P|FDXR_uc002jly.3_Silent_p.P482P|FDXR_uc010wrk.2_Silent_p.P513P|FDXR_uc010wrm.2_Silent_p.P442P|FDXR_uc002jlz.3_Silent_p.P474P|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	482					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GCATCTCCTGAGGATCCACCA	0.692000													5	68					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:91967356T>A	uc001doe.3	+	1	248	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_uc001dof.3_Nonsense_Mutation_p.L28*|CDC7_uc010osw.2_Nonsense_Mutation_p.L28*|CDC7_uc009wdc.3_Nonsense_Mutation_p.L28*	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	28					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													4	112					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49072961	49072961	+	Silent	SNP	T	T	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:49072961T>G	uc004dnb.3	-	26	3212	c.3150A>C	c.(3148-3150)ggA>ggC	p.G1050G	CACNA1F_uc010nip.3_Silent_p.G1039G	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1050					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGACACGTCTCCATCTGGGT	0.567000													13	1					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:62328731T>A	uc002yfy.3	+	5	1103	c.475T>A	c.(475-477)Tca>Aca	p.S159T	RTEL1_uc002yfw.3_Non-coding_Transcript|TNFRSF6B_uc002yfz.3_Missense_Mutation_p.S159T	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	159					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGCACCTTCTCAGCCAGCAG	0.662000													11	22					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195404651	195404651	+	Missense_Mutation	SNP	C	C	G	rs1996904	by1000genomes	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:195404651C>G	uc003fuw.3	+	9	1402	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		TGTCACGAATCTTGACAAATT	0.418000													3	36					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40501921	40501921	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:40501921G>A	uc001zkx.4	+	16	2441	c.2229G>A	c.(2227-2229)ttG>ttA	p.L743L		NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTGCAGAGTTGTGTATAGAAG	0.448000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	61					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268717C>T	uc003pao.4	+	1	880	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PAQR8_uc021zal.1_Missense_Mutation_p.H236Y	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	236					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCGCTCTGTCACCTGGCTGG	0.567000													5	63					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474462	99474462	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:99474462C>T	uc003usc.1	-	0	195	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGGGAGAGCTGGCTGAGCA	0.488000													26	37					0	0	1	0	0
TSGA13	114960	broad.mit.edu	37	7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:130357704G>A	uc003vqi.3	-	5	857	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSGA13_uc003vqj.3_Nonsense_Mutation_p.Q134*	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	134										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGTTTGTGCTGATGATGACTT	0.463000													4	37					0	0	1	0	0
NXN	64359	broad.mit.edu	37	17	722762	722762	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:722762T>C	uc002fsa.3	-	4	817	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_uc002fsb.1_Missense_Mutation_p.Y133C|NXN_uc010vqd.2_5'UTR|NXN_uc010vqe.2_Missense_Mutation_p.Y138C	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	246	Thioredoxin.				Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTCACTGAAGTACTGTTTGAA	0.632000													29	66					0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:21299769A>T	uc002npo.4	+	4	677	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_uc002npl.3_5'UTR|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGTACAAAAAAGGTTATGAA	0.318000													13	27					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	rs148262159		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr5:170640699A>G	uc003mba.3	+	20	2438	c.2296A>G	c.(2296-2298)Aca>Gca	p.T766A	RANBP17_uc003mbb.3_Missense_Mutation_p.T91A|RANBP17_uc003mbd.3_Missense_Mutation_p.T129A|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	766					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C765F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAACATGTACAACTCCCAT	0.418000			T	TRD@	ALL								47	63					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:29628243T>C	uc010ztl.1	+	2	187	c.155T>C	c.(154-156)tTg>tCg	p.L52S	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	147					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124016065	124016065	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:124016065A>G	uc001pzu.3	+	17	2485	c.2276A>G	c.(2275-2277)cAt>cGt	p.H759R	VWA5A_uc001pzt.3_Missense_Mutation_p.H759R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	759			H -> R.					p.H759R(2)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGCGTGCCCATGCAGGTAGG	0.587000													33	33					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:28359926C>T	uc001zbj.3	-	89	13851	c.13745G>A	c.(13744-13746)gGa>gAa	p.G4582E	HERC2_uc001zbi.3_Missense_Mutation_p.G271E	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4582	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACATGAGTCCAGGAATAAA	0.502000													13	61					0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18704899	18704899	+	Missense_Mutation	SNP	A	A	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:18704899A>G	uc010ebt.2	-	7	1425	c.1231T>C	c.(1231-1233)Tcg>Ccg	p.S411P		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	411					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTCTGCCCGAGGGCAGGATC	0.662000													4	7					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:130919341C>A	uc001uil.2	-	10	2356	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	RIMBP2_uc001uim.3_Missense_Mutation_p.D622Y	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	714						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTTGAAGTCTGGAGAGTCA	0.597000													7	159					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	rs141976331	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:135458234C>T	uc004cbp.1	+	0	242	c.50C>T	c.(49-51)gCg>gTg	p.A17V		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	Homo sapiens BarH-like homeobox 1 (BARHL1), mRNA.	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCCCACCGCGCGGGCAGCCCC	0.662000													4	107					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3828281	3828281	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:3828281G>A	uc003zhx.1	-	10	3497	c.2784C>T	c.(2782-2784)acC>acT	p.T928T	GLIS3_uc010mhf.1_Silent_p.T322T|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.T773T	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	773					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTTAGCCTTCGGTGTAGACAG	0.552000													3	56					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268580C>G	uc003pao.4	+	1	743	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PAQR8_uc021zal.1_Missense_Mutation_p.S190C	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	190					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512000													4	86					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268889	52268889	+	Missense_Mutation	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268889C>T	uc003pao.4	+	1	1052	c.878C>T	c.(877-879)aCg>aTg	p.T293M	PAQR8_uc021zal.1_Missense_Mutation_p.T293M	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	293					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCATCTGTACGCTCTCCCAG	0.587000													5	56					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:92577146G>A	uc001pdj.4	+	17	10630	c.10613G>A	c.(10612-10614)cGc>cAc	p.R3538H	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3538	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACATCCGCGTGCGAGTC	0.468000										TCGA Ovarian(4;0.039)			10	237					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268842	52268842	+	Silent	SNP	C	C	A	rs34615735	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268842C>A	uc003pao.4	+	1	1005	c.831C>A	c.(829-831)atC>atA	p.I277I	PAQR8_uc021zal.1_Silent_p.I277I	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	277					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGTGACATCGTGGGCCATG	0.572000													5	68					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268632	52268632	+	Silent	SNP	C	C	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268632C>T	uc003pao.4	+	1	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_uc021zal.1_Silent_p.V207V	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	207					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.V207V(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547000													5	83					0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:33261413G>T	uc001zhf.4	-	3	1820	c.1820C>A	c.(1819-1821)cCc>cAc	p.P607H	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	830	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGCTTTTTGGGTACTAATTG	0.468000													99	133					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35793406	35793406	+	Silent	SNP	G	G	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:35793406G>A	uc002nyy.2	+	6	1224	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	MAG_uc002nyx.2_Silent_p.T342T|MAG_uc010eds.2_Silent_p.T317T|MAG_uc002nyz.2_Silent_p.T342T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	342	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577000													27	47					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:165491240delT	uc003fem.4	-	3	1899	c.1739delA	c.(1738-1740)aatfs	p.N580fs	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	580					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.N580N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATCATGTAATTGTTCCAGCG	0.313													13	7	---	---	---	---					
PTPN12	5782	broad.mit.edu	37	7	77221501	77221502	+	Splice_Site	INS	-	-	A			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:77221501_77221502insA	uc003ugh.2	+	6	512	c.421_splice	c.e6-1	p.K141_splice	PTPN12_uc011kgp.1_Splice_Site_p.K22_splice|PTPN12_uc011kgq.1_Splice_Site_p.K11_splice	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	141	Tyrosine-protein phosphatase.					soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTGGATGACAGAAAAAATGTGA	0.317													27	53	---	---	---	---					
HNRNPKP3	399881	broad.mit.edu	37	11	43283606	43283606	+	RNA	DEL	A	A	-			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:43283606delA	uc001mxe.1	-	1		c.1330delT								Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA.																		AAGCAAATGTAAAAAAAAAAA	0.388													5	6	---	---	---	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:12647692_12647694delCAG	uc002gno.2	+	7	1209_1211	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_uc002gnn.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.Q309Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													7	50	---	---	---	---					
