#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAMTS14	140766	broad.mit.edu;hgsc.bcm.edu	37	10	72496510	72496510	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:72496510G>T	ENST00000373207.1	+	10	1560	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.K523N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	520	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K523N(1)		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						AGACCAAGAAGGGGCCCCCGC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											84.0	76.0	79.0					10																	72496510		2203	4300	6503	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1560G>T	10.37:g.72496510G>T	ENSP00000362303:p.Lys520Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663179	0.67700	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.62941	-0.01;-0.01	3.62	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.65004	0.2650	L	0.28649	0.875	0.44719	D	0.997717	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.986;0.993	T	0.60146	-0.7320	10	0.27785	T	0.31	.	10.9255	0.47189	0.096:0.0:0.904:0.0	.	453;520;523	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	N	523;520	ENSP00000362304:K523N;ENSP00000362303:K520N	ENSP00000362303:K520N	K	+	3	2	ADAMTS14	72166516	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.011000	0.29911	2.320000	0.78422	0.467000	0.42956	AAG		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722	
AKAP9	10142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91736718	91736718	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr7:91736718C>T	ENST00000359028.2	+	48	11765	c.11540C>T	c.(11539-11541)cCt>cTt	p.P3847L	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3793L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3843L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3847					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.P3847L(1)|p.P3843L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTAGGTCCCCTTTACCATTT	0.358			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	kidney(2)											108.0	103.0	105.0					7																	91736718		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.11540C>T	7.37:g.91736718C>T	ENSP00000351922:p.Pro3847Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808123	0.50421	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.04049	3.79;3.79;3.82;3.72	5.31	3.5	0.40072	.	0.216607	0.23581	N	0.046645	T	0.04048	0.0113	N	0.19112	0.55	0.41857	D	0.990203	B;B;B;B;B	0.19583	0.007;0.037;0.022;0.037;0.037	B;B;B;B;B	0.19148	0.006;0.024;0.011;0.024;0.024	T	0.45702	-0.9243	10	0.37606	T	0.19	.	12.2514	0.54599	0.0:0.8646:0.0:0.1354	.	1118;3847;3847;3843;3835	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	L	3843;3847;3793;3847;1689	ENSP00000348573:P3843L;ENSP00000351922:P3847L;ENSP00000350813:P3793L;ENSP00000378042:P1689L	ENSP00000348573:P3843L	P	+	2	0	AKAP9	91574654	1.000000	0.71417	0.973000	0.42090	0.987000	0.75469	2.666000	0.46799	0.809000	0.34255	0.655000	0.94253	CCT		0.358	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
ANKRD34B	340120	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	79854670	79854670	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:79854670A>T	ENST00000338682.3	-	5	1841	c.1169T>A	c.(1168-1170)cTt>cAt	p.L390H		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	390						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L390H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTTTCCTATAAGTGCTTTGCC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											56.0	61.0	59.0					5																	79854670		2203	4300	6503	SO:0001583	missense	340120				CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.1169T>A	5.37:g.79854670A>T	ENSP00000339802:p.Leu390His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	A	6.047	0.377098	0.11466	.	.	ENSG00000189127	ENST00000338682	T	0.19806	2.12	6.17	5.02	0.67125	.	2.692750	0.02311	N	0.072071	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	1	P	0.51791	0.948	B	0.43155	0.41	T	0.17531	-1.0366	10	0.39692	T	0.17	-1.3107	8.6754	0.34176	0.8444:0.0:0.1556:0.0	.	390	A5PLL1	AN34B_HUMAN	H	390	ENSP00000339802:L390H	ENSP00000339802:L390H	L	-	2	0	ANKRD34B	79890426	0.008000	0.16893	0.001000	0.08648	0.768000	0.43524	2.424000	0.44714	1.168000	0.42723	0.533000	0.62120	CTT		0.463	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1		NM_001004441	
ATP6V0B	533	hgsc.bcm.edu;ucsc.edu	37	1	44442331	44442331	+	Splice_Site	DEL	G	G	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:44442331delG	ENST00000472174.2	+	5	741	c.348delG	c.(346-348)gag>ga	p.E116fs	ATP6V0B_ENST00000498664.1_Splice_Site_p.E69fs|B4GALT2_ENST00000372324.1_5'Flank|B4GALT2_ENST00000434555.2_5'Flank|ATP6V0B_ENST00000471859.2_Splice_Site_p.E163fs|ATP6V0B_ENST00000532642.1_Splice_Site_p.E116fs|ATP6V0B_ENST00000236067.4_Splice_Site_p.E69fs|ATP6V0B_ENST00000472277.1_Intron	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	116					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				ACATGGCTGAGGTATGGAAGG	0.483																																																	0													101.0	93.0	96.0					1																	44442331		2203	4300	6503	SO:0001630	splice_region_variant	533			BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.348+1G>-	1.37:g.44442331delG		Somatic		WXS	Illumina HiSeq	Phase_I	D3DPY5|Q6IB32	Frame_Shift_Del	DEL	ENST00000472174.2	37	CCDS505.1																																																																																				0.483	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2		NM_004047	Frame_Shift_Del
ATP1A2	477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160098797	160098797	+	Missense_Mutation	SNP	C	C	T	rs121918618		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:160098797C>T	ENST00000361216.3	+	10	1333	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.T415M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	415					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.T415M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGATCCCCTACGTGGACGGCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM072871	ATP1A2	M	rs121918618						42.0	35.0	37.0					1																	160098797		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1244C>T	1.37:g.160098797C>T	ENSP00000354490:p.Thr415Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.65|16.65	3.183451|3.183451	0.57800|0.57800	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.79845	.|-1.31;-1.31	4.13|4.13	4.13|4.13	0.48395|0.48395	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.100878	.|0.64402	.|D	.|0.000003	D|D	0.83036|0.83036	0.5167|0.5167	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	A|A	0.999992|0.999992	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.85749|0.85749	0.1342|0.1342	4|9	.|0.87932	.|D	.|0	.|.	15.6667|15.6667	0.77236|0.77236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|415;315;415	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	C|M	126|415;415;118	.|ENSP00000354490:T415M;ENSP00000376066:T415M	.|ENSP00000354490:T415M	R|T	+|+	1|2	0|0	ATP1A2|ATP1A2	158365421|158365421	1.000000|1.000000	0.71417|0.71417	0.031000|0.031000	0.17742|0.17742	0.170000|0.170000	0.22686|0.22686	7.651000|7.651000	0.83577|0.83577	2.306000|2.306000	0.77630|0.77630	0.561000|0.561000	0.74099|0.74099	CGT|ACG		0.577	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2		NM_000702	
C10orf71	118461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50532616	50532616	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:50532616G>A	ENST00000374144.3	+	3	2314	c.2026G>A	c.(2026-2028)Gtg>Atg	p.V676M	C10orf71_ENST00000323868.4_Missense_Mutation_p.V676M			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	676								p.V676M(2)		endometrium(1)	1						CTCCAGATCTGTGTCCCAAGA	0.522																																																	2	Substitution - Missense(2)	kidney(2)											40.0	43.0	42.0					10																	50532616		1874	4103	5977	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2026G>A	10.37:g.50532616G>A	ENSP00000363259:p.Val676Met	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051711	0.55218	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.17370	2.28;3.51	5.64	-6.78	0.01721	.	0.996046	0.08123	N	0.994471	T	0.16769	0.0403	L	0.36672	1.1	0.09310	N	1	P	0.44380	0.834	P	0.48627	0.584	T	0.32534	-0.9903	10	0.62326	D	0.03	.	9.7166	0.40278	0.7006:0.0:0.212:0.0874	.	676	Q711Q0-3	.	M	676	ENSP00000318713:V676M;ENSP00000363259:V676M	ENSP00000318713:V676M	V	+	1	0	C10orf71	50202622	0.001000	0.12720	0.464000	0.27143	0.686000	0.39977	-0.834000	0.04391	-1.089000	0.03073	-0.469000	0.05056	GTG		0.522	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2		NM_199459	
AXDND1	126859	hgsc.bcm.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	AAGAAC	AAGAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																																	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)								750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696	
CFAP58	159686	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	106209950	106209950	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr10:106209950A>T	ENST00000369704.3	+	17	2632	c.2498A>T	c.(2497-2499)gAa>gTa	p.E833V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		833						extracellular space (GO:0005615)		p.E833V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AAACGTAAAGAACAACTTCAA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											71.0	73.0	72.0					10																	106209950		2203	4299	6502	SO:0001583	missense	159686																														ENST00000369704.3:c.2498A>T	10.37:g.106209950A>T	ENSP00000358718:p.Glu833Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141574	0.77775	.	.	ENSG00000120051	ENST00000369704	T	0.43688	0.94	5.76	5.76	0.90799	.	0.223459	0.45867	D	0.000336	T	0.65302	0.2678	M	0.83012	2.62	0.80722	D	1	D	0.58268	0.982	P	0.62885	0.908	T	0.66870	-0.5814	10	0.38643	T	0.18	-18.8194	16.0745	0.80960	1.0:0.0:0.0:0.0	.	833	Q5T655	CC147_HUMAN	V	833	ENSP00000358718:E833V	ENSP00000358718:E833V	E	+	2	0	CCDC147	106199940	1.000000	0.71417	0.964000	0.40570	0.826000	0.46750	5.984000	0.70548	2.201000	0.70794	0.528000	0.53228	GAA		0.333	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			
CLK1	1195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	201719363	201719363	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:201719363G>C	ENST00000321356.4	-	11	1331	c.1196C>G	c.(1195-1197)cCa>cGa	p.P399R	CLK1_ENST00000409769.2_Missense_Mutation_p.P222R|CLK1_ENST00000434813.2_Missense_Mutation_p.P441R	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	399	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.P441R(1)|p.P399R(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CATATGTTTTGGTAGAGGTCC	0.333																																																	2	Substitution - Missense(2)	kidney(2)											203.0	205.0	204.0					2																	201719363		2203	4300	6503	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.1196C>G	2.37:g.201719363G>C	ENSP00000326830:p.Pro399Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637688	0.87760	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.23147	1.92;1.92;1.92	5.53	5.53	0.82687	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	M	0.87381	2.88	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.65327	-0.6195	10	0.87932	D	0	.	19.4145	0.94689	0.0:0.0:1.0:0.0	.	441;369;399;222	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	R	399;369;222;441	ENSP00000326830:P399R;ENSP00000386358:P222R;ENSP00000394734:P441R	ENSP00000326830:P399R	P	-	2	0	CLK1	201427608	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.397000	0.97276	2.757000	0.94681	0.563000	0.77884	CCA		0.333	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			
CTSB	1508	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	11703216	11703216	+	Silent	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:11703216G>T	ENST00000353047.6	-	9	1129	c.876C>A	c.(874-876)ccC>ccA	p.P292P	RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000533455.1_Silent_p.P292P|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000453527.2_Silent_p.P292P|CTSB_ENST00000534510.1_Silent_p.P292P|CTSB_ENST00000530640.2_Silent_p.P292P|CTSB_ENST00000531089.1_Silent_p.P292P|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000345125.3_Silent_p.P292P|CTSB_ENST00000434271.1_Silent_p.P292P	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	292					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)	p.P292P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCAGCCAGTAGGGTGTGCCAT	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											133.0	83.0	100.0					8																	11703216		2203	4300	6503	SO:0001819	synonymous_variant	1508			M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.876C>A	8.37:g.11703216G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQR5|B3KRR5|Q503A6|Q96D87	Silent	SNP	ENST00000353047.6	37	CCDS5986.1																																																																																				0.577	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3		NM_147780	
COLEC10	10584	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	120118232	120118232	+	Silent	SNP	T	T	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:120118232T>C	ENST00000332843.2	+	6	677	c.636T>C	c.(634-636)aaT>aaC	p.N212N		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	212	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.N212N(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TTGGCGTGAATGACCTTGAAA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	106.0	112.0					8																	120118232		2203	4300	6503	SO:0001819	synonymous_variant	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.636T>C	8.37:g.120118232T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SYH6|Q6UW19	Silent	SNP	ENST00000332843.2	37	CCDS6327.1																																																																																				0.522	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			
EIF2B2	8892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75475794	75475794	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:75475794T>C	ENST00000266126.5	+	8	1039	c.959T>C	c.(958-960)cTc>cCc	p.L320P	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	320					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)	p.L320P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		CCCCCAGAGCTCATTACCCTC	0.483																																																	1	Substitution - Missense(1)	kidney(1)											387.0	313.0	338.0					14																	75475794		2203	4300	6503	SO:0001583	missense	8892				CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.959T>C	14.37:g.75475794T>C	ENSP00000266126:p.Leu320Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O43201	Missense_Mutation	SNP	ENST00000266126.5	37	CCDS9836.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848515	0.91277	.	.	ENSG00000119718	ENST00000266126	D	0.97279	-4.32	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98842	0.9609	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99686	1.1000	10	0.72032	D	0.01	-19.4631	16.0745	0.80960	0.0:0.0:0.0:1.0	.	320	P49770	EI2BB_HUMAN	P	320	ENSP00000266126:L320P	ENSP00000266126:L320P	L	+	2	0	EIF2B2	74545547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.040000	0.89188	2.201000	0.70794	0.528000	0.53228	CTC		0.483	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1		NM_014239	
EPHA5	2044	hgsc.bcm.edu;ucsc.edu	37	4	66189869	66189869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr4:66189869delA	ENST00000273854.3	-	18	3677	c.3077delT	c.(3076-3078)atgfs	p.M1026fs	EPHA5_ENST00000432638.2_Frame_Shift_Del_p.M863fs|EPHA5_ENST00000354839.4_Frame_Shift_Del_p.M1004fs	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	1026	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTGCACCTTCATTTCTTGAAG	0.428										TSP Lung(17;0.13)																																							0													123.0	112.0	116.0					4																	66189869		2203	4300	6503	SO:0001589	frameshift_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.3077delT	4.37:g.66189869delA	ENSP00000273854:p.Met1026fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3F2	Frame_Shift_Del	DEL	ENST00000273854.3	37	CCDS3513.1																																																																																				0.428	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2		NM_004439	
FHOD1	29109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67265179	67265179	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:67265179A>C	ENST00000258201.4	-	17	2826	c.2579T>G	c.(2578-2580)cTa>cGa	p.L860R		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	860	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.L860R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAGATGGTGTAGCAGTGACTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											101.0	86.0	91.0					16																	67265179		2198	4300	6498	SO:0001583	missense	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2579T>G	16.37:g.67265179A>C	ENSP00000258201:p.Leu860Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.054754	0.55325	.	.	ENSG00000135723	ENST00000258201	T	0.81163	-1.46	5.39	5.39	0.77823	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	D	0.90242	0.6949	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91804	0.5454	10	0.87932	D	0	.	14.2313	0.65895	1.0:0.0:0.0:0.0	.	860	Q9Y613	FHOD1_HUMAN	R	860	ENSP00000258201:L860R	ENSP00000258201:L860R	L	-	2	0	FHOD1	65822680	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	9.339000	0.96797	2.043000	0.60533	0.459000	0.35465	CTA		0.587	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			
FAM65A	79567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67579292	67579292	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:67579292C>G	ENST00000379312.3	+	18	3178	c.3057C>G	c.(3055-3057)ttC>ttG	p.F1019L	FAM65A_ENST00000428437.2_Missense_Mutation_p.F1029L|FAM65A_ENST00000042381.4_Missense_Mutation_p.F1015L|FAM65A_ENST00000422602.2_Missense_Mutation_p.F1035L|FAM65A_ENST00000540839.3_Missense_Mutation_p.F1034L|CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1019						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.F1015L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGTGAAGTTCCTGGAGGATG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											38.0	42.0	40.0					16																	67579292		2198	4300	6498	SO:0001583	missense	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.3057C>G	16.37:g.67579292C>G	ENSP00000368614:p.Phe1019Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.045|0.045	-1.269070|-1.269070	0.01421|0.01421	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.72051|.	-0.62;-0.62;-0.62|.	4.92|4.92	0.596|0.596	0.17496|0.17496	.|.	0.180712|.	0.49916|.	N|.	0.000130|.	T|T	0.11495|0.11495	0.0280|0.0280	N|N	0.01729|0.01729	-0.75|-0.75	0.31766|0.31766	N|N	0.632749|0.632749	B;B;B|.	0.22346|.	0.068;0.068;0.068|.	B;B;B|.	0.16722|.	0.016;0.016;0.016|.	T|T	0.34004|0.34004	-0.9846|-0.9846	10|5	0.02654|.	T|.	1|.	-10.2239|-10.2239	6.5348|6.5348	0.22346|0.22346	0.0:0.5367:0.1524:0.3109|0.0:0.5367:0.1524:0.3109	.|.	1029;1035;1019|.	B4DIM2;E9PBS3;Q6ZS17|.	.;.;FA65A_HUMAN|.	L|A	1019;1015;1035;1029|1009	ENSP00000368614:F1019L;ENSP00000042381:F1015L;ENSP00000400099:F1035L|.	ENSP00000042381:F1015L|.	F|P	+|+	3|1	2|0	FAM65A|FAM65A	66136793|66136793	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.620000|0.620000	0.37586|0.37586	0.920000|0.920000	0.28705|0.28705	-0.012000|-0.012000	0.14223|0.14223	-1.202000|-1.202000	0.01658|0.01658	TTC|CCT		0.577	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3		NM_024519	
FTL	2512	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49469167	49469167	+	Silent	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:49469167C>T	ENST00000331825.6	+	2	450	c.243C>T	c.(241-243)gaC>gaT	p.D81D	CTD-2639E6.9_ENST00000599784.1_lincRNA	NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	81	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|membrane (GO:0016020)	ferric iron binding (GO:0008199)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)	p.D81D(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	TCTTCCAGGACATCAAGGTAA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	38.0	39.0					19																	49469167		2203	4300	6503	SO:0001819	synonymous_variant	2512			AY207005	CCDS33070.1	19q13.33	2014-05-19			ENSG00000087086	ENSG00000087086			3999	protein-coding gene	gene with protein product	"""ferritin light polypeptide-like 3"", ""L apoferritin"", ""ferritin L subunit"", ""ferritin light chain"", ""ferritin L-chain"", ""neurodegeneration with brain iron accumulation 3"""	134790				3000916, 9526618	Standard	NM_000146		Approved	MGC71996, NBIA3	uc002plo.3	P02792		ENST00000331825.6:c.243C>T	19.37:g.49469167C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R4B9|Q6IBT7|Q7Z2W1|Q86WI9|Q8WU07|Q96AU9|Q96CU0|Q9BTZ8	Silent	SNP	ENST00000331825.6	37	CCDS33070.1																																																																																				0.602	FTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466233.1		NM_000146	
GBA3	57733	broad.mit.edu;hgsc.bcm.edu	37	4	22749618	22749618	+	RNA	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr4:22749618A>G	ENST00000503442.1	+	0	377				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.2_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						carbohydrate metabolic process (GO:0005975)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	beta-galactosidase activity (GO:0004565)|beta-glucosidase activity (GO:0008422)|glycosylceramidase activity (GO:0017042)	p.D329G(1)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATTCTCCAGGATGCGGAAATT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											45.0	43.0	44.0					4																	22749618		1825	4099	5924			57733			AB017913		4p15.2	2013-05-09	2013-05-09		ENSG00000249948	ENSG00000249948	3.2.1.21		19069	protein-coding gene	gene with protein product	"""klotho-related protein"""	606619	"""glucosidase, beta, acid 3 (cytosolic)"""			11389701	Standard	NM_020973		Approved	GLUC, KLrP	uc031sdv.1	Q9H227	OTTHUMG00000160448		4.37:g.22749618A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q32LY7|Q3MIH4|Q53GG8|Q6NSF4|Q8NHT8|Q9H3T4|Q9H4C6	Missense_Mutation	SNP	ENST00000503442.1	37																																																																																					0.373	GBA3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000360620.2			
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53225887	53225887	+	Frame_Shift_Del	DEL	G	G	-	rs376421703		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chrX:53225887delG	ENST00000375401.3	-	19	3494	c.2962delC	c.(2962-2964)cacfs	p.H988fs	KDM5C_ENST00000404049.3_Frame_Shift_Del_p.H987fs|KDM5C_ENST00000375383.3_Frame_Shift_Del_p.H947fs|KDM5C_ENST00000452825.3_Frame_Shift_Del_p.H921fs|KDM5C_ENST00000375379.3_Frame_Shift_Del_p.H988fs	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	988					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGGCAGAGGTGGGCTTTCTCC	0.602			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													74.0	63.0	67.0					X																	53225887		2203	4300	6503	SO:0001589	frameshift_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2962delC	X.37:g.53225887delG	ENSP00000364550:p.His988fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Frame_Shift_Del	DEL	ENST00000375401.3	37	CCDS14351.1																																																																																				0.602	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KIAA0586	9786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	58937442	58937442	+	Splice_Site	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:58937442G>T	ENST00000556134.1	+	18	2782		c.e18+1		KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000538571.2_Splice_Site|KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000423743.3_Splice_Site	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586						cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGATAAAGGTATATTTCAG	0.318																																																	2	Unknown(2)	kidney(2)											77.0	71.0	73.0					14																	58937442		1854	4097	5951	SO:0001630	splice_region_variant	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2508+1G>T	14.37:g.58937442G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Splice_Site	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596835	0.46318	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0098	0.92868	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIAA0586	58007195	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	4.629000	0.61290	2.724000	0.93272	0.585000	0.79938	.		0.318	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		NM_014749	Intron
LOXL1	4016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74239564	74239564	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:74239564G>A	ENST00000261921.7	+	4	1832	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	502	Lysyl-oxidase like.				extracellular matrix organization (GO:0030198)|oxidation-reduction process (GO:0055114)|protein deamination (GO:0018277)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor (GO:0016641)	p.Q502Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CTCATACCCAGGTTGGGCTGG	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	68.0	68.0					15																	74239564		2198	4297	6495	SO:0001630	splice_region_variant	4016			L21186	CCDS10253.1	15q24-q25	2008-07-18			ENSG00000129038	ENSG00000129038			6665	protein-coding gene	gene with protein product		153456				7689553	Standard	NM_005576		Approved	LOXL, LOL	uc002awc.1	Q08397	OTTHUMG00000137595	ENST00000261921.7:c.1506+1G>A	15.37:g.74239564G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6NUL3|Q96BW7	Silent	SNP	ENST00000261921.7	37	CCDS10253.1																																																																																				0.617	LOXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268995.2		NM_005576	Silent
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	83940609	83940609	+	Silent	SNP	G	G	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:83940609G>T	ENST00000262430.4	+	2	565	c.546G>T	c.(544-546)ctG>ctT	p.L182L	RP11-505K9.4_ENST00000566309.1_5'Flank	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	182	Alpha-helical domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)	p.L182L(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATGGGGTGCTGAAAGGAATGC	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											172.0	167.0	169.0					16																	83940609		1881	4113	5994	SO:0001819	synonymous_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.546G>T	16.37:g.83940609G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	CCDS42206.1																																																																																				0.478	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1		NM_012213	
MYH4	4622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10351442	10351442	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr17:10351442G>A	ENST00000255381.2	-	34	4768	c.4658C>T	c.(4657-4659)gCa>gTa	p.A1553V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1553					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.A1553V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCAAGAGATGCCTTAATAAA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											84.0	76.0	79.0					17																	10351442		2202	4300	6502	SO:0001630	splice_region_variant	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4657-1C>T	17.37:g.10351442G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000255381.2	37	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.185536	0.38609	.	.	ENSG00000141048	ENST00000255381	T	0.80304	-1.36	5.59	-2.3	0.06785	Myosin tail (1);	0.205852	0.23387	U	0.048732	T	0.73434	0.3586	L	0.47716	1.5	0.44966	D	0.997985	B	0.06786	0.001	B	0.15052	0.012	T	0.63812	-0.6552	10	0.87932	D	0	.	15.8543	0.78965	0.0594:0.6101:0.3305:0.0	.	1553	Q9Y623	MYH4_HUMAN	V	1553	ENSP00000255381:A1553V	ENSP00000255381:A1553V	A	-	2	0	MYH4	10292167	0.091000	0.21658	0.915000	0.36163	0.925000	0.55904	0.336000	0.19823	-0.488000	0.06726	-0.126000	0.14955	GCA		0.323	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1		NM_017533	Missense_Mutation
NAT8	9027	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	73868095	73868095	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:73868095A>G	ENST00000272425.3	-	2	810	c.661T>C	c.(661-663)Tct>Cct	p.S221P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.S221P(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ACCTTAGAAGAAGGGAGGTGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											47.0	46.0	47.0					2																	73868095		2203	4300	6503	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.661T>C	2.37:g.73868095A>G	ENSP00000272425:p.Ser221Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000272425.3	37	CCDS1926.1	.	.	.	.	.	.	.	.	.	.	A	9.560	1.118338	0.20877	.	.	ENSG00000144035	ENST00000272425	T	0.33654	1.4	3.48	0.807	0.18714	.	0.372242	0.25941	N	0.027301	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	P	0.40578	0.722	B	0.38194	0.267	T	0.10941	-1.0608	10	0.42905	T	0.14	-8.319	4.2228	0.10567	0.5859:0.2108:0.0:0.2033	.	221	Q9UHE5	NAT8_HUMAN	P	221	ENSP00000272425:S221P	ENSP00000272425:S221P	S	-	1	0	NAT8	73721603	0.848000	0.29623	0.007000	0.13788	0.021000	0.10359	1.027000	0.30115	0.041000	0.15688	-0.349000	0.07799	TCT		0.483	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1		NM_003960	
OR4C3	256144	broad.mit.edu;hgsc.bcm.edu	37	11	48346849	48346849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:48346849T>A	ENST00000319856.4	+	1	378	c.357T>A	c.(355-357)taT>taA	p.Y119*		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y119*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CCATCTCTTATGAGTGCTGCA	0.443																																																	1	Substitution - Nonsense(1)	kidney(1)											258.0	245.0	250.0					11																	48346849		2201	4298	6499	SO:0001587	stop_gained	256144			AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.357T>A	11.37:g.48346849T>A	ENSP00000321419:p.Tyr119*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF2|Q6IFB3	Nonsense_Mutation	SNP	ENST00000319856.4	37	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.208873	0.58343	.	.	ENSG00000176547	ENST00000319856	.	.	.	5.78	0.907	0.19321	.	0.986829	0.08246	N	0.975403	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	4.4615	0.11668	0.1393:0.3091:0.0:0.5516	.	.	.	.	X	119	.	ENSP00000321419:Y119X	Y	+	3	2	OR4C3	48303425	0.000000	0.05858	0.000000	0.03702	0.887000	0.51463	-0.771000	0.04699	-0.066000	0.12998	0.391000	0.25812	TAT		0.443	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1		NM_001004702	
OTUD7B	56957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	149920957	149920957	+	Silent	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:149920957A>G	ENST00000369135.4	-	10	1446	c.1152T>C	c.(1150-1152)taT>taC	p.Y384Y		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	384	Catalytic.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.Y384Y(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCTTATACTCTGAAT	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	70.0	69.0					1																	149920957		2173	4289	6462	SO:0001819	synonymous_variant	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1152T>C	1.37:g.149920957A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	CCDS41389.1																																																																																				0.473	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3		NM_020205	
PARP16	54956	broad.mit.edu;ucsc.edu	37	15	65551800	65551800	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:65551800A>C	ENST00000444347.2	-	4	985	c.569T>G	c.(568-570)gTg>gGg	p.V190G	PARP16_ENST00000261888.6_Missense_Mutation_p.V306G			Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	305	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)	p.V306G(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GATGACACTCACTATGAGCAG	0.483																																					NSCLC(50;885 1163 13509 21242 41978)												1	Substitution - Missense(1)	kidney(1)											130.0	128.0	129.0					15																	65551800		2201	4299	6500	SO:0001583	missense	54956			AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000444347.2:c.569T>G	15.37:g.65551800A>C	ENSP00000396118:p.Val190Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000444347.2	37		.	.	.	.	.	.	.	.	.	.	A	22.4	4.282395	0.80692	.	.	ENSG00000138617	ENST00000261888;ENST00000444347	T;T	0.54279	0.6;0.58	5.86	5.86	0.93980	.	0.211092	0.47852	D	0.000220	T	0.50650	0.1628	N	0.24115	0.695	0.80722	D	1	D;P;P	0.53151	0.958;0.925;0.93	P;B;B	0.50754	0.649;0.346;0.446	T	0.56300	-0.8002	10	0.87932	D	0	-16.746	15.4264	0.75055	1.0:0.0:0.0:0.0	.	306;190;305	Q8N5Y8-3;Q8N5Y8-2;Q8N5Y8	.;.;PAR16_HUMAN	G	306;190	ENSP00000261888:V306G;ENSP00000396118:V190G	ENSP00000261888:V306G	V	-	2	0	PARP16	63338853	1.000000	0.71417	0.938000	0.37757	0.996000	0.88848	8.657000	0.91106	2.241000	0.73720	0.533000	0.62120	GTG		0.483	PARP16-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000418174.1		NM_017851	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52595822	52595822	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr3:52595822A>C	ENST00000296302.7	-	25	4250	c.4249T>G	c.(4249-4251)Tgg>Ggg	p.W1417G	PBRM1_ENST00000410007.1_Missense_Mutation_p.W1392G|PBRM1_ENST00000356770.4_Missense_Mutation_p.W1385G|PBRM1_ENST00000409114.3_Missense_Mutation_p.W1432G|PBRM1_ENST00000394830.3_Missense_Mutation_p.W1365G|PBRM1_ENST00000409057.1_Missense_Mutation_p.W1417G|PBRM1_ENST00000337303.4_Missense_Mutation_p.W1417G|SMIM4_ENST00000476842.1_Intron|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Missense_Mutation_p.W1432G			Q86U86	PB1_HUMAN	polybromo 1	1417					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.W1417G(2)|p.W1385G(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGATTTCTCCATTCTGTCCCC	0.517			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Substitution - Missense(3)	kidney(3)											240.0	245.0	244.0					3																	52595822		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4249T>G	3.37:g.52595822A>C	ENSP00000296302:p.Trp1417Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	17.69	3.453060	0.63290	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.99458	-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93;-5.93	5.89	5.89	0.94794	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.94847	3.59	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.998;0.981;0.998;0.996;0.998;0.999;0.998;0.996	D;D;D;D;D;D;D;D	0.83275	0.994;0.969;0.994;0.991;0.994;0.996;0.994;0.991	D	0.97562	1.0099	10	0.87932	D	0	-5.1481	16.3083	0.82859	1.0:0.0:0.0:0.0	.	1392;1365;1417;1432;1432;1417;1385;1417	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	G	1385;1365;1417;1417;1417;1392;1432;1432;1416	ENSP00000349213:W1385G;ENSP00000378307:W1365G;ENSP00000296302:W1417G;ENSP00000338302:W1417G;ENSP00000386593:W1417G;ENSP00000386529:W1392G;ENSP00000386643:W1432G;ENSP00000386601:W1432G;ENSP00000387775:W1416G	ENSP00000296302:W1417G	W	-	1	0	PBRM1	52570862	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.250000	0.74265	0.455000	0.32223	TGG		0.517	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52595829	52595829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr3:52595829delC	ENST00000296302.7	-	25	4243	c.4242delG	c.(4240-4242)gggfs	p.G1414fs	PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1389fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.G1382fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1429fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1362fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1414fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1414fs|SMIM4_ENST00000476842.1_Intron|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1429fs			Q86U86	PB1_HUMAN	polybromo 1	1414			G -> E (found in a lung cancer cell line). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCATTCTGTCCCCACCAGGC	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0													226.0	232.0	230.0					3																	52595829		2203	4300	6503	SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4242delG	3.37:g.52595829delC	ENSP00000296302:p.Gly1414fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16838838	16838838	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:16838838C>T	ENST00000355661.3	-	11	1385	c.1375G>A	c.(1375-1377)Ggt>Agt	p.G459S	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.G459S|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.G459S			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	459					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGGCCAGGACCCTGGCGAGGA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											43.0	49.0	47.0					11																	16838838		2191	4282	6473	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1375G>A	11.37:g.16838838C>T	ENSP00000347883:p.Gly459Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745878	0.49151	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06528	3.31;3.29;3.29	4.6	4.6	0.57074	.	0.289804	0.38548	N	0.001650	T	0.12347	0.0300	L	0.50333	1.59	0.38244	D	0.941403	B;P;D;P	0.55605	0.094;0.594;0.972;0.945	B;B;P;P	0.50440	0.027;0.293;0.449;0.641	T	0.26430	-1.0103	10	0.22109	T	0.4	-12.741	17.4204	0.87513	0.0:1.0:0.0:0.0	.	33;459;459;459	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	S	459	ENSP00000435389:G459S;ENSP00000347883:G459S;ENSP00000416895:G459S	ENSP00000347883:G459S	G	-	1	0	PLEKHA7	16795414	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.156000	0.58138	2.119000	0.64992	0.462000	0.41574	GGT		0.602	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058	
PLEKHA7	144100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	16847952	16847952	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr11:16847952T>G	ENST00000355661.3	-	10	1068	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.E353A|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.E353A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	353					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)	p.E353A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGCTTGCCCTCCAGTGGGTC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											79.0	67.0	71.0					11																	16847952		2200	4294	6494	SO:0001583	missense	144100			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1058A>C	11.37:g.16847952T>G	ENSP00000347883:p.Glu353Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.906771	0.52333	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.08008	3.14;3.16;3.15	5.15	5.15	0.70609	.	0.423167	0.26231	N	0.025580	T	0.09423	0.0232	L	0.46157	1.445	0.42739	D	0.993733	B;B;B	0.33940	0.366;0.172;0.433	B;B;B	0.30029	0.052;0.038;0.11	T	0.16335	-1.0406	10	0.34782	T	0.22	-31.684	15.1284	0.72500	0.0:0.0:0.0:1.0	.	353;353;353	E9PKC0;Q6IQ23;Q6IQ23-2	.;PKHA7_HUMAN;.	A	353	ENSP00000435389:E353A;ENSP00000347883:E353A;ENSP00000416895:E353A	ENSP00000347883:E353A	E	-	2	0	PLEKHA7	16804528	1.000000	0.71417	0.965000	0.40720	0.782000	0.44232	4.266000	0.58871	2.170000	0.68504	0.454000	0.30748	GAG		0.592	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2		NM_175058	
PPP2R2B	5521	broad.mit.edu;hgsc.bcm.edu	37	5	145980011	145980011	+	Missense_Mutation	SNP	G	G	A	rs148423117		TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:145980011G>A	ENST00000394413.3	-	7	1373	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PPP2R2B_ENST00000394410.2_Missense_Mutation_p.P257L|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.P326L|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.P271L|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.P268L|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.P257L|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.P268L|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.P334L|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.P268L|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.P274L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	268					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.P271L(3)|p.P326L(2)|p.P268L(1)|p.P257L(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATCTTCCGGCTCTTCAAA	0.413																																																	7	Substitution - Missense(7)	kidney(4)|large_intestine(3)						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		803,803,803,803,812,743,770	5.8	1.0	5	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	98,98,98,98,98,98,98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	268/444,268/444,268/444,268/444,271/447,248/424,257/433	145980011	1,13005	2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.803C>T	5.37:g.145980011G>A	ENSP00000377935:p.Pro268Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928122	0.73327	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.8	5.8	0.92144	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.79475	2.455	0.80722	D	1	P;P;P;P;P;P	0.43750	0.816;0.816;0.816;0.664;0.705;0.816	B;B;B;B;B;B	0.34590	0.13;0.186;0.134;0.13;0.035;0.186	T	0.43637	-0.9379	10	0.51188	T	0.08	-22.597	20.0467	0.97609	0.0:0.0:1.0:0.0	.	326;274;257;334;271;268	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	L	268;257;334;268;268;268;257;271;274;326	ENSP00000377935:P268L;ENSP00000431320:P257L;ENSP00000377936:P334L;ENSP00000377933:P268L;ENSP00000349283:P268L;ENSP00000398779:P268L;ENSP00000377932:P257L;ENSP00000336591:P271L;ENSP00000421396:P274L;ENSP00000377931:P326L	ENSP00000336591:P271L	P	-	2	0	AC011357.1	145960204	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	9.869000	0.99810	2.749000	0.94314	0.655000	0.94253	CCG		0.413	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2		NM_181678	
PTPRH	5794	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55710122	55710122	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:55710122C>T	ENST00000376350.3	-	8	1601	c.1579G>A	c.(1579-1581)Ggt>Agt	p.G527S	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597																																																	1	Substitution - Missense(1)	kidney(1)											182.0	150.0	161.0					19																	55710122		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1579G>A	19.37:g.55710122C>T	ENSP00000365528:p.Gly527Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	4.753	0.139963	0.09083	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.57907	0.37;0.37	2.49	2.49	0.30216	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24236	0.0587	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.22604	0.072;0.058;0.05	B;B;B	0.25405	0.06;0.036;0.05	T	0.19712	-1.0297	9	0.13108	T	0.6	.	8.6181	0.33845	0.0:1.0:0.0:0.0	.	349;349;527	C9JCH2;Q9HD43-2;Q9HD43	.;.;PTPRH_HUMAN	S	527;349	ENSP00000365528:G527S;ENSP00000263434:G349S	ENSP00000263434:G349S	G	-	1	0	PTPRH	60401934	0.001000	0.12720	0.005000	0.12908	0.006000	0.05464	0.593000	0.23999	1.714000	0.51371	0.561000	0.74099	GGT		0.597	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1			
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36125081	36125081	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:36125081C>T	ENST00000389698.3	-	28	4300	c.3910G>A	c.(3910-3912)Gaa>Aaa	p.E1304K	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1317K|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1304K|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.E1351K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1304					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.E1304K(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGGACTAGTTCTTCACAAATC	0.348																																																	2	Substitution - Missense(2)	kidney(2)											113.0	113.0	113.0					14																	36125081		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3910G>A	14.37:g.36125081C>T	ENSP00000374348:p.Glu1304Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354086	0.95830	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.36	5.36	0.76844	.	0.048380	0.85682	D	0.000000	T	0.57725	0.2073	M	0.72894	2.215	0.54753	D	0.999986	D;D;D;P	0.89917	0.999;0.998;1.0;0.768	D;D;D;P	0.83275	0.996;0.965;0.987;0.517	T	0.60702	-0.7211	10	0.72032	D	0.01	-16.7485	19.0796	0.93177	0.0:1.0:0.0:0.0	.	1351;1317;1304;1304	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	K	1304;1304;1304;1351;1317;1351	ENSP00000374348:E1304K;ENSP00000302647:E1304K;ENSP00000258840:E1351K;ENSP00000371803:E1317K;ENSP00000451877:E1351K	ENSP00000258840:E1351K	E	-	1	0	RALGAPA1	35194832	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.331000	0.79192	2.489000	0.83994	0.655000	0.94253	GAA		0.348	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	
ROR1	4919	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	64643611	64643611	+	Silent	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:64643611A>G	ENST00000371079.1	+	9	2262	c.1887A>G	c.(1885-1887)gtA>gtG	p.V629V	ROR1_ENST00000545203.1_Silent_p.V80V	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	629	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)	p.V629V(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACTTCATGTAAAGATTTCAG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	60.0	59.0					1																	64643611		2203	4300	6503	SO:0001819	synonymous_variant	4919			M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1887A>G	1.37:g.64643611A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVX6|Q66K77|Q92776	Silent	SNP	ENST00000371079.1	37	CCDS626.1																																																																																				0.468	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1		NM_005012	
RYR3	6263	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	33822793	33822793	+	Splice_Site	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:33822793G>A	ENST00000389232.4	+	4	350	c.280G>A	c.(280-282)Gca>Aca	p.A94T	RYR3_ENST00000415757.3_Splice_Site_p.A94T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	94					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.A94T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTCCCACAGGCAGCACAAGG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											54.0	53.0	53.0					15																	33822793		1970	4149	6119	SO:0001630	splice_region_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.280-1G>A	15.37:g.33822793G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312977	0.40895	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.98602	-5.02;-5.02	5.76	5.76	0.90799	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.061325	0.64402	D	0.000004	D	0.94162	0.8127	N	0.13235	0.315	0.58432	D	0.999993	B;B	0.15473	0.011;0.013	B;B	0.14023	0.006;0.01	D	0.91021	0.4857	9	.	.	.	.	13.6844	0.62506	0.0:0.0:0.8455:0.1545	.	94;94	Q15413-2;Q15413	.;RYR3_HUMAN	T	94	ENSP00000373884:A94T;ENSP00000399610:A94T	.	A	+	1	0	RYR3	31610085	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.246000	0.65411	2.713000	0.92767	0.655000	0.94253	GCA		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			Missense_Mutation
SASH1	23328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	148853944	148853944	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr6:148853944G>C	ENST00000367467.3	+	14	2051	c.1576G>C	c.(1576-1578)Gtg>Ctg	p.V526L		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	526					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)	p.V526L(1)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CGGTCAAACAGTGAGCACCAC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											88.0	92.0	91.0					6																	148853944		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.1576G>C	6.37:g.148853944G>C	ENSP00000356437:p.Val526Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262003	0.80358	.	.	ENSG00000111961	ENST00000367467;ENST00000535767	T	0.53640	0.61	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	M	0.68317	2.08	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66221	-0.5978	10	0.66056	D	0.02	-20.7431	18.9255	0.92541	0.0:0.0:1.0:0.0	.	507;526	Q6P4R9;O94885	.;SASH1_HUMAN	L	526;287	ENSP00000356437:V526L	ENSP00000356437:V526L	V	+	1	0	SASH1	148895637	1.000000	0.71417	0.530000	0.27963	0.393000	0.30537	7.628000	0.83189	2.477000	0.83638	0.655000	0.94253	GTG		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278	
SCAMP2	10066	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75142952	75142952	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr15:75142952A>C	ENST00000268099.9	-	6	644	c.535T>G	c.(535-537)Tcc>Gcc	p.S179A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	179					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)		p.S179A(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACTCCCTTGGAGCTGTTGCCC	0.537																																																	1	Substitution - Missense(1)	kidney(1)											136.0	124.0	128.0					15																	75142952		2197	4295	6492	SO:0001583	missense	10066			AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.535T>G	15.37:g.75142952A>C	ENSP00000268099:p.Ser179Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	A	5.557	0.287679	0.10513	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.18174	2.23	4.48	-8.95	0.00765	.	1.599140	0.02930	N	0.139072	T	0.10121	0.0248	L	0.35341	1.055	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.15484	0.005;0.013	T	0.22103	-1.0226	10	0.18710	T	0.47	.	6.1552	0.20334	0.2637:0.3272:0.0:0.4091	.	179;148	O15127;B3KU14	SCAM2_HUMAN;.	A	179;148	ENSP00000268099:S179A	ENSP00000268099:S179A	S	-	1	0	SCAMP2	72930005	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-0.833000	0.04396	-1.148000	0.02847	0.402000	0.26972	TCC		0.537	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3		NM_005697	
SEC14L1	6397	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	75209495	75209495	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr17:75209495G>A	ENST00000413679.2	+	16	2266	c.1963G>A	c.(1963-1965)Gtg>Atg	p.V655M	SEC14L1_ENST00000431431.2_Missense_Mutation_p.V621M|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V655M|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V655M|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V655M|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V655M|SEC14L1_ENST00000591437.1_Missense_Mutation_p.V621M|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V655M	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	655	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.V655M(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						GGTGGACGACGTGCTTGCGTC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											65.0	48.0	54.0					17																	75209495		2203	4300	6503	SO:0001583	missense	6397			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1963G>A	17.37:g.75209495G>A	ENSP00000394716:p.Val655Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	ENST00000413679.2	37	CCDS11752.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711396	0.89112	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.72835	-0.57;-0.57;-0.57;-0.57;-0.57;-0.69	5.02	5.02	0.67125	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.83050	0.5170	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.999;0.953	D	0.84644	0.0697	10	0.72032	D	0.01	-38.0157	17.5081	0.87752	0.0:0.0:1.0:0.0	.	655;49;655	Q92503-2;Q6ZP00;Q92503	.;.;S14L1_HUMAN	M	655;655;655;655;655;621	ENSP00000376268:V655M;ENSP00000406030:V655M;ENSP00000390392:V655M;ENSP00000408169:V655M;ENSP00000394716:V655M;ENSP00000389838:V621M	ENSP00000376268:V655M	V	+	1	0	SEC14L1	72721090	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.116000	0.94341	2.601000	0.87937	0.561000	0.74099	GTG		0.617	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000436240.1		NM_003003	
SIPA1L1	26037	hgsc.bcm.edu;ucsc.edu	37	14	72117112	72117112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr14:72117112delG	ENST00000555818.1	+	5	2227	c.1879delG	c.(1879-1881)gagfs	p.E627fs	SIPA1L1_ENST00000381232.3_Frame_Shift_Del_p.E627fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Del_p.E627fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Del_p.E102fs	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	627	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACTGAAGAAGAGATGTACAA	0.448																																																	0													177.0	170.0	172.0					14																	72117112		2203	4300	6503	SO:0001589	frameshift_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1879delG	14.37:g.72117112delG	ENSP00000450832:p.Glu627fs	Somatic		WXS	Illumina HiSeq	Phase_I	J3KP19|O95321|Q9UDU4|Q9UNU4	Frame_Shift_Del	DEL	ENST00000555818.1	37	CCDS9807.1																																																																																				0.448	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1		NM_015556	
SORT1	6272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	109888450	109888450	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:109888450A>G	ENST00000256637.6	-	8	944	c.886T>C	c.(886-888)Ttc>Ctc	p.F296L	SORT1_ENST00000538502.1_Missense_Mutation_p.F159L	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	296					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)	p.F296L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATAGTTTTGAAGCTTTTTCCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											115.0	114.0	115.0					1																	109888450		2203	4300	6503	SO:0001583	missense	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.886T>C	1.37:g.109888450A>G	ENSP00000256637:p.Phe296Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DWI3|C0JYZ0|Q8IZ49	Missense_Mutation	SNP	ENST00000256637.6	37	CCDS798.1	.	.	.	.	.	.	.	.	.	.	a	11.49	1.654481	0.29425	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	T;T	0.25749	1.78;2.01	5.81	4.58	0.56647	VPS10 (1);	0.221632	0.47455	D	0.000234	T	0.09774	0.0240	L	0.52364	1.645	0.54753	D	0.99998	B;B	0.25312	0.007;0.123	B;B	0.20955	0.012;0.032	T	0.04579	-1.0941	10	0.11794	T	0.64	-21.3774	11.1394	0.48394	0.8523:0.0:0.0:0.1477	.	159;296	B4DWI3;Q99523	.;SORT_HUMAN	L	296;159	ENSP00000256637:F296L;ENSP00000438597:F159L	ENSP00000256637:F296L	F	-	1	0	SORT1	109689973	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	1.865000	0.39479	2.219000	0.72066	0.378000	0.23410	TTC		0.408	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1		NM_002959	
STAT4	6775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	191900934	191900934	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:191900934C>A	ENST00000392320.2	-	17	1840	c.1526G>T	c.(1525-1527)gGt>gTt	p.G509V	STAT4_ENST00000358470.4_Missense_Mutation_p.G509V|STAT4_ENST00000470708.1_5'UTR	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	509					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G509V(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGAGTTAAGACCACGACCAAC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											122.0	106.0	111.0					2																	191900934		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.1526G>T	2.37:g.191900934C>A	ENSP00000376134:p.Gly509Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163882	0.94727	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.91407	-2.84;-2.84	5.83	5.83	0.93111	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.95452	0.8523	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95294	0.8397	10	0.87932	D	0	-15.2788	20.1195	0.97955	0.0:1.0:0.0:0.0	.	418;509;509	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	V	509	ENSP00000351255:G509V;ENSP00000376134:G509V	ENSP00000351255:G509V	G	-	2	0	STAT4	191609179	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.818000	0.86416	2.759000	0.94783	0.650000	0.86243	GGT		0.448	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1		NM_003151	
SCNM1	79005	hgsc.bcm.edu;ucsc.edu	37	1	151143053	151143054	+	IGR	DEL	AA	AA	-			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr1:151143053_151143054delAA	ENST00000368905.4	+	0	2016				TMOD4_ENST00000416280.2_Frame_Shift_Del_p.F250fs	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCTGTGTAAAGTGGTAGCC	0.584																																																	0																																										SO:0001628	intergenic_variant	29765			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258		1.37:g.151143053_151143054delAA		Somatic		WXS	Illumina HiSeq	Phase_I	B4DWR1|Q5JR74	Frame_Shift_Del	DEL	ENST00000368905.4	37	CCDS987.1																																																																																				0.584	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034064.2		NM_024041	
TNC	3371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	117848654	117848654	+	Silent	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr9:117848654G>A	ENST00000350763.4	-	3	1767	c.1356C>T	c.(1354-1356)ggC>ggT	p.G452G	TNC_ENST00000423613.2_Silent_p.G452G|TNC_ENST00000346706.3_Silent_p.G452G|TNC_ENST00000341037.4_Silent_p.G452G|TNC_ENST00000345230.3_Silent_p.G452G|TNC_ENST00000340094.3_Silent_p.G452G|TNC_ENST00000537320.1_Silent_p.G452G|TNC_ENST00000542877.1_Silent_p.G452G|TNC_ENST00000535648.1_Silent_p.G452G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	452	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)	p.G452G(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATACACATTTGCCCTCGACAC	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											135.0	125.0	129.0					9																	117848654		2203	4300	6503	SO:0001819	synonymous_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1356C>T	9.37:g.117848654G>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1																																																																																				0.567	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160	
UBLCP1	134510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158696067	158696067	+	Silent	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr5:158696067C>G	ENST00000296786.6	+	2	470	c.144C>G	c.(142-144)ctC>ctG	p.L48L		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	48	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.L48L(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTTGGACTCAAAGTTAAAG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	79.0	80.0					5																	158696067		2203	4300	6503	SO:0001819	synonymous_variant	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.144C>G	5.37:g.158696067C>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQJ7|Q96DK5	Silent	SNP	ENST00000296786.6	37	CCDS4345.1																																																																																				0.318	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2		NM_145049	
ULK1	8408	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	132400471	132400471	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr12:132400471G>A	ENST00000321867.4	+	19	1996	c.1645G>A	c.(1645-1647)Ggg>Agg	p.G549R	ULK1_ENST00000540647.1_5'Flank	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	549					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)	p.G549R(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCGCACTTCCGGGCTGGGCTG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											38.0	45.0	43.0					12																	132400471		2203	4295	6498	SO:0001583	missense	8408			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.1645G>A	12.37:g.132400471G>A	ENSP00000324560:p.Gly549Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.440924	0.63067	.	.	ENSG00000177169	ENST00000321867	T	0.38887	1.11	5.48	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.58803	-0.7572	10	0.08179	T	0.78	-30.6506	14.1131	0.65134	0.0724:0.0:0.9276:0.0	.	549	O75385	ULK1_HUMAN	R	549	ENSP00000324560:G549R	ENSP00000324560:G549R	G	+	1	0	ULK1	130966424	1.000000	0.71417	0.557000	0.28306	0.133000	0.20885	8.671000	0.91174	1.322000	0.45245	0.561000	0.74099	GGG		0.692	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			
ZNF212	7988	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148947875	148947875	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr7:148947875A>G	ENST00000335870.2	+	3	646	c.518A>G	c.(517-519)aAc>aGc	p.N173S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	173	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)	p.N173S(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			ATGGAGAGTAACTATGAGACA	0.483																																																	1	Substitution - Missense(1)	kidney(1)											176.0	171.0	173.0					7																	148947875		2203	4300	6503	SO:0001583	missense	7988			U38864	CCDS5896.1	7q36.1	2013-01-08			ENSG00000170260	ENSG00000170260		"""Zinc fingers, C2H2-type"", ""-"""	13004	protein-coding gene	gene with protein product		602386				9169157	Standard	NM_012256		Approved	C2H2-150	uc003wfp.3	Q9UDV6	OTTHUMG00000158968	ENST00000335870.2:c.518A>G	7.37:g.148947875A>G	ENSP00000338572:p.Asn173Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCF4|Q13396|Q8N664	Missense_Mutation	SNP	ENST00000335870.2	37	CCDS5896.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.621268	0.66787	.	.	ENSG00000170260	ENST00000335870	T	0.03635	3.86	5.61	1.97	0.26223	Krueppel-associated box (4);	0.000000	0.53938	D	0.000056	T	0.14399	0.0348	M	0.83012	2.62	0.28724	N	0.902878	D	0.76494	0.999	D	0.87578	0.998	T	0.04650	-1.0936	10	0.72032	D	0.01	-21.7404	4.6208	0.12449	0.5983:0.1548:0.2469:0.0	.	173	Q9UDV6	ZN212_HUMAN	S	173	ENSP00000338572:N173S	ENSP00000338572:N173S	N	+	2	0	ZNF212	148578808	0.988000	0.35896	1.000000	0.80357	0.995000	0.86356	3.338000	0.52128	0.101000	0.17610	0.533000	0.62120	AAC		0.483	ZNF212-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352710.1		NM_012256	
ZNF93	81931	broad.mit.edu;hgsc.bcm.edu	37	19	20044531	20044531	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:20044531C>A	ENST00000343769.5	+	4	795	c.767C>A	c.(766-768)cCc>cAc	p.P256H	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P256H(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GGAAAGAAACCCTACAAGTGT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											55.0	53.0	54.0					19																	20044531		2203	4297	6500	SO:0001583	missense	81931			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.767C>A	19.37:g.20044531C>A	ENSP00000342002:p.Pro256His	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	c	12.57	1.978849	0.34942	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.17528	2.27	0.85	-0.442	0.12253	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29850	0.0746	M	0.71920	2.185	0.29345	N	0.865768	D	0.58620	0.983	P	0.60012	0.867	T	0.18272	-1.0342	9	0.72032	D	0.01	.	4.5089	0.11901	0.0:0.6826:0.0:0.3174	.	256	P35789	ZNF93_HUMAN	H	256	ENSP00000342002:P256H	ENSP00000342002:P256H	P	+	2	0	ZNF93	19905531	0.000000	0.05858	0.100000	0.21137	0.100000	0.18952	0.367000	0.20382	0.192000	0.20272	0.195000	0.17529	CCC		0.368	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2		NM_031218	
COLEC11	78989	broad.mit.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr2:3691463G>A	ENST00000349077.4	+	7	674	c.571G>A	c.(571-573)Gca>Aca	p.A191T	COLEC11_ENST00000236693.7_Missense_Mutation_p.A188T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A167T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A117T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A141T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A205T|COLEC11_ENST00000403096.3_Missense_Mutation_p.A165T|COLEC11_ENST00000402794.1_Missense_Mutation_p.A141T	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672																																																	2	Substitution - Missense(2)	kidney(2)											36.0	40.0	39.0					2																	3691463		2203	4300	6503	SO:0001583	missense	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.571G>A	2.37:g.3691463G>A	ENSP00000339168:p.Ala191Thr	Somatic		WXS	Illumina GAIIx	Phase_I	A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623376	0.14193	.	.	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33;2.33;2.33;2.33	5.2	-0.861	0.10676	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.695666	0.15318	N	0.268725	T	0.07413	0.0187	N	0.11313	0.125	0.09310	N	1	B;B;B;B;B;B;B;B;B	0.22211	0.009;0.002;0.008;0.002;0.002;0.001;0.002;0.006;0.066	B;B;B;B;B;B;B;B;B	0.16289	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.015;0.007	T	0.26360	-1.0105	10	0.42905	T	0.14	-5.3795	6.5381	0.22365	0.1754:0.0:0.3207:0.5039	.	117;141;141;165;143;167;167;191;188	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	T	167;188;191;205;165;141;117;141	ENSP00000371494:A167T;ENSP00000236693:A188T;ENSP00000339168:A191T;ENSP00000411770:A205T;ENSP00000385130:A165T;ENSP00000384882:A141T;ENSP00000385827:A117T;ENSP00000385653:A141T	ENSP00000236693:A188T	A	+	1	0	COLEC11	3669338	0.628000	0.27138	0.350000	0.25708	0.027000	0.11550	2.152000	0.42272	-0.402000	0.07633	-0.444000	0.05651	GCA		0.672	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1		NM_024027	
CYP11B2	1585	broad.mit.edu	37	8	143994277	143994277	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr8:143994277C>A	ENST00000323110.2	-	7	1148	c.1146G>T	c.(1144-1146)ttG>ttT	p.L382F		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	382					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.L382F(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CCACTCGCTCCAAAAACAGAC	0.597									Familial Hyperaldosteronism type I																																								1	Substitution - Missense(1)	kidney(1)											72.0	68.0	69.0					8																	143994277		2203	4300	6503	SO:0001583	missense	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1146G>T	8.37:g.143994277C>A	ENSP00000325822:p.Leu382Phe	Somatic		WXS	Illumina GAIIx	Phase_I	B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455197	0.43634	.	.	ENSG00000179142	ENST00000323110	T	0.73681	-0.77	2.85	2.85	0.33270	.	0.786753	0.10755	N	0.637818	T	0.79203	0.4406	L	0.57130	1.785	0.31124	N	0.708538	P	0.44478	0.836	P	0.59171	0.853	T	0.74006	-0.3803	10	0.42905	T	0.14	.	5.841	0.18633	0.0:0.8549:0.0:0.1451	.	382	P19099	C11B2_HUMAN	F	382	ENSP00000325822:L382F	ENSP00000325822:L382F	L	-	3	2	CYP11B2	143991279	0.990000	0.36364	0.055000	0.19348	0.003000	0.03518	1.173000	0.31920	1.879000	0.54435	0.563000	0.77884	TTG		0.597	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			
HSH2D	84941	broad.mit.edu	37	19	16263872	16263872	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr19:16263872C>G	ENST00000253680.6	+	6	766	c.235C>G	c.(235-237)Cat>Gat	p.H79D	HSH2D_ENST00000593154.2_Missense_Mutation_p.H79D|HSH2D_ENST00000397372.4_Intron|HSH2D_ENST00000588246.1_Missense_Mutation_p.H79D			Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	79	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of mitochondrial depolarization (GO:0051902)|positive regulation of signal transduction (GO:0009967)|T cell activation (GO:0042110)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.H79D(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CAGCTGCTGCCATTTCATGGT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											30.0	37.0	35.0					19																	16263872		2051	4201	6252	SO:0001583	missense	84941			AK027792	CCDS74304.1	19p13.12	2013-02-14				ENSG00000196684		"""SH2 domain containing"""	24920	protein-coding gene	gene with protein product		608349				11700021	Standard	NM_032855		Approved	ALX, HSH2, FLJ14886	uc002ndp.4	Q96JZ2		ENST00000253680.6:c.235C>G	19.37:g.16263872C>G	ENSP00000253680:p.His79Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B5ME72|Q6ZNG7	Missense_Mutation	SNP	ENST00000253680.6	37		.	.	.	.	.	.	.	.	.	.	C	18.02	3.530630	0.64860	.	.	ENSG00000196684	ENST00000253680	T	0.57595	0.39	4.78	4.78	0.61160	SH2 motif (4);	0.176818	0.35067	N	0.003470	D	0.83220	0.5207	H	0.99104	4.43	0.43103	D	0.994798	D;D	0.89917	1.0;0.995	D;D	0.91635	0.998;0.999	D	0.89519	0.3777	10	0.87932	D	0	.	13.1599	0.59538	0.0:1.0:0.0:0.0	.	22;79	Q96JZ2-2;Q96JZ2	.;HSH2D_HUMAN	D	79	ENSP00000253680:H79D	ENSP00000253680:H79D	H	+	1	0	HSH2D	16124872	0.985000	0.35326	1.000000	0.80357	0.729000	0.41735	2.826000	0.48104	2.488000	0.83962	0.591000	0.81541	CAT		0.632	HSH2D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_032855	
SLC29A1	2030	broad.mit.edu	37	6	44200593	44200593	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr6:44200593T>G	ENST00000393841.1	+	13	1600	c.1109T>G	c.(1108-1110)gTg>gGg	p.V370G	SLC29A1_ENST00000371731.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000427851.2_Missense_Mutation_p.V370G|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V370G|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V370G|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V370G|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V449G|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V370G	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	370					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.V370G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	GCCCGGCTGGTGTTTGTGCCA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											60.0	45.0	50.0					6																	44200593		2203	4300	6503	SO:0001583	missense	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1109T>G	6.37:g.44200593T>G	ENSP00000377424:p.Val370Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.362935	0.61403	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.56	0.455	0.16649	.	0.565114	0.18177	N	0.149277	T	0.61540	0.2355	L	0.52364	1.645	0.58432	D	0.999998	P;P	0.49696	0.759;0.927	P;P	0.49853	0.624;0.609	T	0.58470	-0.7631	10	0.41790	T	0.15	-8.1844	5.0614	0.14559	0.1236:0.2045:0.0:0.6719	.	449;370	B3KQV7;Q99808	.;S29A1_HUMAN	G	370;449;370;370;370;370;370;370;370;370	ENSP00000377427:V370G;ENSP00000319152:V449G;ENSP00000392668:V370G;ENSP00000360820:V370G;ENSP00000360805:V370G;ENSP00000360796:V370G;ENSP00000377424:V370G;ENSP00000360789:V370G;ENSP00000360778:V370G;ENSP00000360773:V370G	ENSP00000319152:V449G	V	+	2	0	SLC29A1	44308571	1.000000	0.71417	0.002000	0.10522	0.930000	0.56654	4.270000	0.58896	-0.143000	0.11334	-0.250000	0.11733	GTG		0.647	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-BP-5189-01A-02D-1429-08	TCGA-BP-5189-11A-01D-1429-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca98342a-65ec-468a-9cc1-44c7d31a67d6	e83a85aa-b0d1-4c20-9434-2b3d28114c03	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
