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
POLRMT	5442	broad.mit.edu	37	19	620015	620015	+	Silent	SNP	G	G	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:620015G>C	ENST00000588649.2	-	12	2913	c.2829C>G	c.(2827-2829)tcC>tcG	p.S943S		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	943	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CCAGGTTGACGGAGGCGGCGC	0.697000													3	10					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:5844400T>C	ENST00000303225.6	-	3	1085	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_ENST00000589918.1_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000458379.2_Missense_Mutation_p.R151G	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	151					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642000													14	56					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132292	15132292	+	Silent	SNP	C	C	T			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:15132292C>T	ENST00000292574.3	+	4	1084	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	334					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622000													3	30					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr15:72454662T>C	ENST00000309731.7	-	11	1026	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	338						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488000													11	33					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr8:133919035A>C	ENST00000220616.4	+	17	3777	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1246					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCAGTGCCAATTGCTGTGC	0.632000													10	28					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20013740	20013740	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr17:20013740C>A	ENST00000395529.3	+	3	200	c.147_splice	c.e3-1	p.L50_splice	SPECC1_ENST00000261503.5_Splice_Site_p.L50_splice|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Splice_Site_p.L50_splice	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	50						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCTCTCAGCTCAAGAGGGC	0.572000													17	51					1.33834e-09	1.44129e-09	1	1	0
FRG1B	0	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													3	25					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			31	46					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71682911	71682911	+	Missense_Mutation	SNP	T	T	C	rs149705576		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr16:71682911T>C	ENST00000393524.2	-	17	4386	c.3653A>G	c.(3652-3654)cAt>cGt	p.H1218R	PHLPP2_ENST00000568954.1_Missense_Mutation_p.H1285R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1285						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCCAGGTCATGAGGCACAAC	0.552000													5	51					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													2	1					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr7:44801338G>A	ENST00000309315.4	+	11	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	477	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACGAGGACCGGCAGATGAAC	0.612000													16	17					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140209392	140209392	+	Silent	SNP	T	T	C	rs146736705	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr5:140209392T>C	ENST00000529310.1	+	1	1830	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGTGGTACTGGTGGTG	0.687000													6	100					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	368928	368928	+	Silent	SNP	T	T	C	rs148217969	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr12:368928T>C	ENST00000436453.1	-	2	343	c.291A>G	c.(289-291)ccA>ccG	p.P97P	SLC6A13_ENST00000445055.2_Intron|SLC6A13_ENST00000343164.4_Intron	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			tatacatctatgGGACTCCCC	0.522000													3	16					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr20:23065236G>C	ENST00000246006.4	-	1	1741	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCATCTTGAGTGGGGCAGAT	0.662000													21	59					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr6:74228523T>C	ENST00000316292.9	-	4	1661	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G|EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	224						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	24					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065236	23065236	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr20:23065236G>C	ENST00000246006.4	-	1	1741	c.1594C>G	c.(1594-1596)Ctc>Gtc	p.L532V		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	532					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCATCTTGAGTGGGGCAGAT	0.662000													21	59					0	0	1	0	0
FUT3	2525	broad.mit.edu	37	19	5844400	5844400	+	Missense_Mutation	SNP	T	T	C	rs417341	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:5844400T>C	ENST00000303225.6	-	3	1085	c.451A>G	c.(451-453)Aga>Gga	p.R151G	FUT3_ENST00000458379.2_Missense_Mutation_p.R151G|FUT3_ENST00000589620.1_Missense_Mutation_p.R151G|FUT3_ENST00000589918.1_Missense_Mutation_p.R151G	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	151					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTGAAGTATCTGTCCAGGGCT	0.642000													14	56					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15132292	15132292	+	Silent	SNP	C	C	T			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr19:15132292C>T	ENST00000292574.3	+	4	1084	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	334					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GTGTGTGTGCCTCGCTGGCGC	0.622000													3	30					0	0	1	0	0
GRAMD2	196996	broad.mit.edu	37	15	72454662	72454662	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr15:72454662T>C	ENST00000309731.7	-	11	1026	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	338						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TAACTGCTGCTCTAGCCGAGA	0.488000													11	33					0	0	1	0	0
FAM86FP	0	broad.mit.edu	37	12	8386955	8386955	+	RNA	SNP	T	T	C	rs75997195		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr12:8386955T>C	ENST00000427893.2	-	0	811																											CTTGTGCTCCTGGCAGGCAGC	0.612000													5	44					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133919035	133919035	+	Missense_Mutation	SNP	A	A	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr8:133919035A>C	ENST00000220616.4	+	17	3777	c.3737A>C	c.(3736-3738)cAa>cCa	p.Q1246P	TG_ENST00000377869.1_Missense_Mutation_p.Q1246P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1246					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCAGTGCCAATTGCTGTGC	0.632000													10	28					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20013740	20013740	+	Splice_Site	SNP	C	C	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr17:20013740C>A	ENST00000395529.3	+	3	200	c.147_splice	c.e3-1	p.L50_splice	SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Splice_Site_p.L50_splice|SPECC1_ENST00000395527.4_Splice_Site_p.L50_splice	NM_152904.4	NP_690868.3	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	50						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ACTCTCTCAGCTCAAGAGGGC	0.572000													17	51					1.33834e-09	1.39187e-09	1	1	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			31	46					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71682911	71682911	+	Missense_Mutation	SNP	T	T	C	rs149705576		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr16:71682911T>C	ENST00000393524.2	-	17	4386	c.3653A>G	c.(3652-3654)cAt>cGt	p.H1218R	PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Missense_Mutation_p.H1285R|PHLPP2_ENST00000568954.1_Missense_Mutation_p.H1285R|PHLPP2_ENST00000567016.1_Missense_Mutation_p.H1320R			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1285						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCCAGGTCATGAGGCACAAC	0.552000													5	51					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													5	40					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44801338	44801338	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:44801338G>A	ENST00000309315.4	+	11	1553	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R419Q|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R477Q|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R445Q|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R451Q	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	477	Interaction with AR.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CACGAGGACCGGCAGATGAAC	0.612000													16	17					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													4	10					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140209392	140209392	+	Silent	SNP	T	T	C	rs146736705	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr5:140209392T>C	ENST00000529310.1	+	1	1830	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGGTGGTACTGGTGGTG	0.687000													6	100					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	368928	368928	+	Silent	SNP	T	T	C	rs148217969	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr12:368928T>C	ENST00000436453.1	-	2	343	c.291A>G	c.(289-291)ccA>ccG	p.P97P	SLC6A13_ENST00000343164.4_Intron|SLC6A13_ENST00000445055.2_Intron	NM_001243392.1	NP_001230321.1	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			tatacatctatgGGACTCCCC	0.522000													3	16					0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228523	74228523	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr6:74228523T>C	ENST00000316292.9	-	4	1661	c.670A>G	c.(670-672)Agt>Ggt	p.S224G	EEF1A1_ENST00000331523.2_Missense_Mutation_p.S224G|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.S224G	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	224						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GTGGTTCCACTGGCATTGCCA	0.517000											OREG0003891|OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	24					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr7:81596976_81596977delAC	ENST00000356860.3	-	30	2736_2737	c.2398_2399delGT	c.(2398-2400)tfs	p.V800fs	CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.V812fs	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	812						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTAATTCCAACAACTGAAAAA	0.262													2	4	---	---	---	---					
MICALCL	84953	broad.mit.edu	37	11	12316384	12316389	+	In_Frame_Del	DEL	CTCCTA	CTCCTA	-	rs3812754	byFrequency	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr11:12316384_12316389delCTCCTA	ENST00000256186.2	+	3	1697_1702	c.1406_1411delCTCCTA	c.(1405-1413)cca>c	p.PPT469del		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	469	Poly-Pro.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	p.T471delT(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		cctcctcctcctcctACAGCGGGAGG	0.573													4	7	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	RNA	INS	-	-	C	rs36063533		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													9	2	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													3	3	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085837	11085838	+	RNA	INS	-	-	TAC	rs151194290	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	4f280fa7-808c-445d-b173-cb9c2d2f3a96	g.chr21:11085837_11085838insTAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		accatcaccatcaccaccacca	0.584													2	4	---	---	---	---					
FAM86JP	0	broad.mit.edu	37	3	125642556	125642557	+	RNA	INS	-	-	C	rs112362688		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr3:125642556_125642557insC	ENST00000485843.1	+	0	332					NR_024251.1																						ATCATCTCCCAGGCATCACAGG	0.579													5	11	---	---	---	---					
MSH3	4437	broad.mit.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs3045983		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)del	p.PPA66del	DHFR_ENST00000439211.2_5'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)					4	5	---	---	---	---					
CACNA2D1	781	broad.mit.edu	37	7	81596976	81596977	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:81596976_81596977delAC	ENST00000356860.3	-	30	2736_2737	c.2398_2399delGT	c.(2398-2400)tfs	p.V800fs	CACNA2D1_ENST00000535308.1_Frame_Shift_Del_p.V12fs|CACNA2D1_ENST00000356253.5_Frame_Shift_Del_p.V812fs	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	812						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTTAATTCCAACAACTGAAAAA	0.262													2	4	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149499116	149499117	+	RNA	DEL	AT	AT	-	rs61047652		TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													4	8	---	---	---	---					
RP11-439I14.2	0	broad.mit.edu	37	16	64770704	64770705	+	RNA	INS	-	-	CCAGTGATGGTCACCT	rs140029302	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr16:64770704_64770705insCCAGTGATGGTCACCT	ENST00000564293.1	+	0	453_454																											TGTCACCACTGCCACCTTGTTC	0.371													3	3	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)del	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													8	28	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085837	11085838	+	RNA	INS	-	-	TAC	rs151194290	by1000genomes	TCGA-BJ-A45F-01A-12D-A23U-08	TCGA-BJ-A45F-11A-21D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ce7fe03-659a-4e69-a365-9096354276e4	3f734baf-71fe-415d-aad5-cb29b08cfe9c	g.chr21:11085837_11085838insTAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		accatcaccatcaccaccacca	0.584													2	4	---	---	---	---					
