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
HOXB13	10481	broad.mit.edu	37	17	46805666	46805666	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr17:46805666A>G	uc002ioa.3	-	0	446	c.290T>C	c.(289-291)cTg>cCg	p.L97P		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	97					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACAGGGTTTCAGCGAGCTCCG	0.672000													20	127					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486363	94486363	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:94486363T>C	uc004arj.2	-	8	2612	c.2413A>G	c.(2413-2415)Aag>Gag	p.K805E	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	805	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCCTTCATGGGGATG	0.662000													8	77					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72427735	72427735	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr3:72427735A>C	uc003dpe.3	-	3	458	c.458T>G	c.(457-459)gTg>gGg	p.V153G		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	163	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GACGTTGCCCACAGTTACTGC	0.512000													8	83					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2021549	2021549	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr8:2021549C>T	uc003wpx.4	+	9	1227	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	363	Ig-like C2-type 2.		V -> I (in dbSNP:rs34316994).		muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGGCGGCGTCAGCGACCACA	0.652000													12	39					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	184					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416413	144416413	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:144416413C>G	uc003qkr.1	-	0	342	c.222G>C	c.(220-222)caG>caC	p.Q74H		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	Homo sapiens splicing factor 3b, subunit 5, 10kDa (SF3B5), mRNA.	74					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTCCACAAGGCTGAAGCATCT	0.572000													28	125					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90028248	90028248	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:90028248C>G	uc002fpn.2	+	7	1099	c.966C>G	c.(964-966)caC>caG	p.H322Q	DEF8_uc002fpo.2_Missense_Mutation_p.H261Q|DEF8_uc002fpp.2_Missense_Mutation_p.H251Q|DEF8_uc021tmv.1_Missense_Mutation_p.H261Q|DEF8_uc010vpq.2_Missense_Mutation_p.H201Q|DEF8_uc010vpr.2_Missense_Mutation_p.H261Q|DEF8_uc002fpq.2_5'Flank	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	322					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCGTTGTACACAACTGGGACT	0.637000													3	56					0	0	1	0	0
FAM96B	51647	broad.mit.edu	37	16	66967968	66967968	+	Splice_Site	SNP	A	A	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:66967968A>T	uc021tjy.1	-	2	196	c.143_splice	c.e2-1	p.D48_splice	CES2_uc002eqr.3_5'Flank|CES2_uc002eqq.3_5'Flank|CES2_uc002eqs.3_5'Flank	NM_016062	NP_057146	Q9Y3D0	MIP18_HUMAN	Homo sapiens family with sequence similarity 96, member B (FAM96B), transcript variant 1, mRNA.	48					chromosome segregation	MMXD complex|cytoplasm|nucleus	protein binding			kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCGAATCAGATGTGGGAAGT	0.582000													6	22					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32120919	32120919	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:32120919G>A	uc001btk.1	-	66	4651	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F	COL16A1_uc001btj.1_Missense_Mutation_p.S1227F	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1429	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTTACCATGGAGCCAGGCAC	0.652000													11	62					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:20344654C>T	uc001vwh.1	+	0	228	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418000													52	326					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108143527	108143527	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr11:108143527C>G	uc001pkb.1	+	21	3617	c.3232C>G	c.(3232-3234)Ctt>Gtt	p.L1078V	ATM_uc009yxr.1_Missense_Mutation_p.L1078V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1078					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACACAATTTCTTGCTGACAA	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	56					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498708	72498708	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:72498708C>T	uc001jrg.3	+	10	1719	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	ADAMTS14_uc001jrh.3_Silent_p.G570G|ADAMTS14_uc001jri.1_Silent_p.G93G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	570	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGGGGGCGGGGTGCGAT	0.652000													5	48					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246844	56246844	+	Silent	SNP	C	C	T	rs78302914	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr18:56246844C>T	uc002lhj.4	-	3	1378	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	388							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCGTCACCCGACACCCGAG	0.547000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	69					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452709	102452709	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:102452709G>A	uc001yks.2	+	7	2311	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	716	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCGGGGCGCATTTTCACC	0.502000													3	41					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82339965	82339965	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:82339965C>T	uc004ald.3	+	20	3152	c.2303C>T	c.(2302-2304)tCa>tTa	p.S768L	TLE4_uc004alc.3_Missense_Mutation_p.S743L|TLE4_uc010mpr.3_Missense_Mutation_p.S622L|TLE4_uc004ale.3_Missense_Mutation_p.S380L|TLE4_uc011lsq.2_Missense_Mutation_p.S711L|TLE4_uc010mps.3_Missense_Mutation_p.S667L|TLE4_uc004alf.3_Missense_Mutation_p.S682L	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGAATCCTCATCGGTGCTT	0.368000													7	63					0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372001	34372001	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:34372001C>G	uc003zue.4	-	2	1105	c.938G>C	c.(937-939)cGa>cCa	p.R313P		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AATGGGGTCTCGGAAGGCCTC	0.612000													10	61					0	0	1	0	0
CCDC76	54482	broad.mit.edu	37	1	100609646	100609646	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:100609646A>C	uc001dsv.3	+	8	783	c.764A>C	c.(763-765)gAa>gCa	p.E255A	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Missense_Mutation_p.E255A	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	255					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		GTGCTAAGAGAAGAAAAACTA	0.338000													3	36					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94413536	94413536	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:94413536G>C	uc001kic.3	+	21	3462	c.3154G>C	c.(3154-3156)Gcc>Ccc	p.A1052P		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	1052					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCTGCGAGCCCAGATCAA	0.388000													6	48					0	0	1	0	0
KRTAP13-3	337960	broad.mit.edu	37	21	31798058	31798058	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:31798058T>C	uc002yob.1	-	0	173	c.173A>G	c.(172-174)gAg>gGg	p.E58G		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	58	5 X 10 AA approximate repeats.					intermediate filament		p.E58K(1)		endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CCAGCAGGTCTCCTGACAGCC	0.582000													4	100					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:102515335C>G	uc002cdi.3	+	8	1979	c.559C>G	c.(559-561)Ctg>Gtg	p.L187V	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652000													3	29					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144619403	144619403	+	Missense_Mutation	SNP	A	A	G	rs4067646		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:144619403A>G	uc009wig.1	+	5	738	c.544A>G	c.(544-546)Aaa>Gaa	p.K182E	NBPF10_uc010oxo.1_Missense_Mutation_p.K184E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.K115E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	184										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGTGCAGAAATCATCTGC	0.413000													6	314					0	0	1	0	0
RAB11FIP3	9727	broad.mit.edu	37	16	570797	570797	+	Silent	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:570797G>A	uc002chf.3	+	13	2568	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	RAB11FIP3_uc010uuf.2_Silent_p.V447V|RAB11FIP3_uc010uug.2_Silent_p.V478V	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	743	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGATCATCGTGGCCATCATGG	0.577000													21	61					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48414122	48414122	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:48414122C>T	uc001zwe.3	+	1	263	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SLC24A5_uc001zwd.3_Missense_Mutation_p.R64C|SLC24A5_uc010bel.3_Intron	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	64					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R64S(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGACAGGAGCGCAGAGATGG	0.413000													4	107					0	0	1	0	0
SIM2	6493	broad.mit.edu	37	21	38114059	38114059	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:38114059C>T	uc002yvr.2	+	7	948	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	SIM2_uc002yvq.3_Silent_p.L298L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	298	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTACCGGCTGCTGTCCAAGCG	0.627000													3	25					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	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													5	185					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936464	21936464	+	RNA	SNP	C	C	T	rs8025772	by1000genomes	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:21936464C>T	uc010tzj.1	-	0		c.4276G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GTTATGCAGACCATTTCTTTA	0.328000													6	61					0	0	1	0	0
HNRNPAB	3182	broad.mit.edu	37	5	177636394	177636394	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr5:177636394C>T	uc003miu.3	+	5	990	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	HNRNPAB_uc003miv.3_Missense_Mutation_p.R245C|HNRNPAB_uc003mix.3_Missense_Mutation_p.R245C|AGXT2L2_uc003miy.3_Intron|AGXT2L2_uc003mjc.3_Intron|AGXT2L2_uc003mjb.3_Intron|AGXT2L2_uc003miz.3_Intron|AGXT2L2_uc003mja.3_Intron	NM_031266	NP_112556	Q99729	ROAA_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A/B (HNRNPAB), transcript variant 1, mRNA.	245	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CTCTGGGGGCCGTGGAAACCG	0.572000													9	89					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16704208	16704208	+	Missense_Mutation	SNP	G	G	A	rs145877643		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:16704208G>A	uc010shz.2	-	5	677	c.452C>T	c.(451-453)aCg>aTg	p.T151M	LMO3_uc001rdj.2_Missense_Mutation_p.T140M|LMO3_uc010shy.2_Missense_Mutation_p.T147M|LMO3_uc001rdk.2_Missense_Mutation_p.T129M|LMO3_uc001rdl.2_Missense_Mutation_p.T129M|LMO3_uc009zii.2_Non-coding_Transcript|LMO3_uc001rdn.2_Missense_Mutation_p.T129M|LMO3_uc001rdm.2_Missense_Mutation_p.T129M|LMO3_uc009zij.2_Non-coding_Transcript|LMO3_uc001rdo.2_Non-coding_Transcript|LMO3_uc001rdp.2_Non-coding_Transcript|LMO3_uc009zik.2_Non-coding_Transcript	NM_001243613	NP_001230542	Q8TAP4	LMO3_HUMAN	Homo sapiens LIM domain only 3 (rhombotin-like 2) (LMO3), transcript variant 7, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTCGTAGTCCGTCTGGCAAAG	0.348000													5	74					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951036	204951036	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:204951036C>T	uc010prc.2	+	19	2588	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	NFASC_uc001hbj.3_Silent_p.Y786Y|NFASC_uc010pra.2_Silent_p.Y782Y|NFASC_uc001hbi.3_Silent_p.Y782Y|NFASC_uc010prb.2_Silent_p.Y797Y|NFASC_uc001hbk.1_Silent_p.Y592Y|NFASC_uc001hbl.2_Silent_p.Y36Y			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	786	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTCTCGCTACGTGGTGGGGC	0.602000													12	50					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:45959752G>A	uc002zfh.1	-	0	327	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	94	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662000													4	178					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000													4	54					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791146	91791146	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:91791146G>A	uc010aty.3	-	11	1473	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	440					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCGTTCTTGGACAGCTGCTC	0.612000													6	111					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72988435	72988435	+	Silent	SNP	T	T	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:72988435T>A	uc003tyh.3	-	2	413	c.279A>T	c.(277-279)atA>atT	p.I93I	TBL2_uc011kex.2_Silent_p.I57I|TBL2_uc010lbg.3_5'UTR|TBL2_uc003tyi.3_5'UTR|TBL2_uc011key.2_Intron	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	93										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCATGCAAGATATGTTCCCGC	0.582000													11	56					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741523	98741523	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:98741523G>A	uc001kmv.3	+	0	483	c.376G>A	c.(376-378)Gca>Aca	p.A126T	C10orf12_uc009xvg.2_Missense_Mutation_p.A436T	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	126										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACACAAAGCGGCAAATGGACA	0.458000													4	77					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66703846	66703846	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:66703846G>A	uc001sti.2	+	3	1166	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	380					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCATTTATGTGTCGATGTCGA	0.423000													55	165					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43275384	43275384	+	Silent	SNP	G	G	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:43275384G>C	uc010jyn.2	-	3	294	c.294C>G	c.(292-294)ccC>ccG	p.P98P	CRIP3_uc003ouu.1_Silent_p.P98P	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	98						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTTGGCCTGGGAGGGCTGA	0.632000													13	68					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:123301995_123301997delGAG	uc003vky.2	+	1	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													3	5	---	---	---	---					
KLHL9	55958	broad.mit.edu	37	9	21334407	21334408	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:21334407_21334408delAA	uc003zoy.3	-	0	1022_1023	c.451_452delTT	c.(451-453)ttgfs	p.L151fs	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	151					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACAGTTATCCAAAGAGACTCCT	0.337													9	44	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													8	109	---	---	---	---					
BC071797	0	broad.mit.edu	37	21	9766012	9766013	+	RNA	INS	-	-	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:9766012_9766013insA	uc011abu.2	+	7		c.509_510insA								Homo sapiens, clone IMAGE:4720764, mRNA.																		ACAACTATCAGAAAATGTATGT	0.277													3	6	---	---	---	---					
