#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_refseq_mrna_id	i_secondary_variant_classification
MASP2	10747	broad.mit.edu	37	1	11087589	11087589	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:11087589G>A	ENST00000400897.3	-	11	1429	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	472	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCATATAAAAGTGCACCTGCT	0.493																																					GBM(35;611 746 20780 22741 36496)	uc001aru.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(1414-1416)CTT>TTT		mannan-binding lectin serine protease 2 isoform							133.0	130.0	131.0					1																	11087589		2203	4300	6503	SO:0001583	missense	10747				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	g.chr1:11087589G>A	X98400	CCDS123.1, CCDS124.1	1p36.3-p36.2	2014-09-17	2005-08-17		ENSG00000009724	ENSG00000009724			6902	protein-coding gene	gene with protein product		605102	"""mannan-binding lectin serine protease 2"", ""mannan-binding lectin serine peptidase 1 pseudogene 1"", ""mannan-binding lectin serine protease 1 pseudogene 1"""	MASP1P1		9087411, 9777418	Standard	NM_006610		Approved		uc001aru.3	O00187	OTTHUMG00000002121	ENST00000400897.3:c.1414C>T	1.37:g.11087589G>A	ENSP00000383690:p.Leu472Phe						p.L472F	NM_006610	NP_006601	O00187	MASP2_HUMAN	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	11	1435	-	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	472			Peptidase S1.		A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270	Missense_Mutation	SNP	ENST00000400897.3	37	c.1414C>T	CCDS123.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108251	0.77096	.	.	ENSG00000009724	ENST00000400897	D	0.97404	-4.37	5.45	5.45	0.79879	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	D	0.000001	D	0.98865	0.9616	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.87932	D	0	.	15.6353	0.76946	0.0:0.0:0.8622:0.1378	.	472	O00187	MASP2_HUMAN	F	472	ENSP00000383690:L472F	ENSP00000383690:L472F	L	-	1	0	MASP2	11010176	1.000000	0.71417	0.362000	0.25862	0.982000	0.71751	3.883000	0.56168	2.549000	0.85964	0.563000	0.77884	CTT		0.493	MASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006072.1	NM_006610	
RNF2	6045	broad.mit.edu	37	1	185069006	185069006	+	Missense_Mutation	SNP	G	G	A	rs202081769	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:185069006G>A	ENST00000367510.3	+	6	1109	c.821G>A	c.(820-822)aGc>aAc	p.S274N	RNF2_ENST00000367509.4_Missense_Mutation_p.S202N	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	274					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAACTTCGAAGCAAAGGTGAA	0.393													G|||	2	0.000399361	0.0	0.0	5008	,	,		17113	0.002		0.0	False		,,,				2504	0.0					uc001grc.1																			0				breast(1)	1						c.(820-822)AGC>AAC		ring finger protein 2							96.0	96.0	96.0					1																	185069006		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185069006G>A	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.821G>A	1.37:g.185069006G>A	ENSP00000356480:p.Ser274Asn					RNF2_uc001grd.1_Missense_Mutation_p.S202N|RNF2_uc001gre.1_RNA	p.S274N	NM_007212	NP_009143	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	6	1054	+		Breast(1374;0.000496)	274					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.821G>A	CCDS1365.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.86	2.660886	0.47572	.	.	ENSG00000121481	ENST00000367510;ENST00000367509	D	0.85171	-1.95	5.83	3.95	0.45737	.	0.108653	0.85682	N	0.000000	T	0.74711	0.3752	N	0.22421	0.69	0.43050	D	0.994659	B;B	0.14012	0.009;0.0	B;B	0.04013	0.001;0.0	T	0.67217	-0.5726	10	0.36615	T	0.2	-31.6795	11.35	0.49583	0.0654:0.0:0.808:0.1267	.	202;274	B3KRH1;Q99496	.;RING2_HUMAN	N	274;202	ENSP00000356480:S274N	ENSP00000356479:S202N	S	+	2	0	RNF2	183335629	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.015000	0.64035	0.809000	0.34255	-0.187000	0.12897	AGC		0.393	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212	
SOX13	9580	broad.mit.edu	37	1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576																																						uc001ham.2																			0				breast(1)|central_nervous_system(1)	2						c.(547-552)AAGCAG>AAG		SRY-box 13																																				SO:0001651	inframe_deletion	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085764_204085766delAGC		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.548_550delAGC	1.37:g.204085773_204085775delAGC	ENSP00000356172:p.Gln187del					SOX13_uc001hal.2_In_Frame_Del_p.Q187del|SOX13_uc010pqp.1_In_Frame_Del_p.Q187del|SOX13_uc010pqq.1_In_Frame_Del_p.Q54del	p.Q187del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1143_1145	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		187			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	In_Frame_Del	DEL	ENST00000367204.1	37	c.548_550delAGC	CCDS44299.1																																																																																				0.576	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
REN	5972	broad.mit.edu	37	1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-	rs142739309|rs121917743		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204135375_204135377delAGC	ENST00000272190.8	-	1	73_75	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000367195.2_In_Frame_Del_p.15_16LL>L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	15			L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion). {ECO:0000269|PubMed:19664745}.		angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581																																						uc001haq.2																			0				skin(3)|central_nervous_system(1)	4						c.(43-48)CTGCTC>CTC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)																																			SO:0001651	inframe_deletion	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204135375_204135377delAGC	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.45_47delGCT	1.37:g.204135384_204135386delAGC	ENSP00000272190:p.Leu16del						p.15_16LL>L	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		1	89_91	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		15_16		L -> R (in HNFJ2; affects ER translocation and processing of nascent preprorenin, resulting in abolished prorenin and renin biosynthesis and secretion).			Q6FI38|Q6T5C2	In_Frame_Del	DEL	ENST00000272190.8	37	c.45_47delGCT	CCDS30981.1																																																																																				0.581	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1	NM_000537	
OR2C3	81472	broad.mit.edu	37	1	247695277	247695277	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:247695277A>G	ENST00000366487.3	-	2	898	c.537T>C	c.(535-537)ttT>ttC	p.F179F	GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCATCTCGCAAAAGAAGTGGT	0.557																																						uc009xgy.2																			0				ovary(1)|skin(1)	2						c.(535-537)TTT>TTC		olfactory receptor, family 2, subfamily C,							77.0	71.0	73.0					1																	247695277		2203	4300	6503	SO:0001819	synonymous_variant	81472				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247695277A>G	BC030717	CCDS1634.2	1q44	2014-02-19	2002-02-28		ENSG00000196242	ENSG00000196242		"""GPCR / Class A : Olfactory receptors"""	15005	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily C, member 4"""	OR2C4, OR2C5P			Standard	NM_198074		Approved	OST742	uc009xgy.3	Q8N628	OTTHUMG00000040579	ENST00000366487.3:c.537T>C	1.37:g.247695277A>G						C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	p.F179F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		2	899	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	179			Extracellular (Potential).		Q5JQS4|Q6IEZ1|Q8NGW7	Silent	SNP	ENST00000366487.3	37	c.537T>C	CCDS1634.2																																																																																				0.557	OR2C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097626.2	NM_198074	
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr10:89692904C>T	ENST00000371953.3	+	5	1745	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	130	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CWS1 and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9635567}.|R -> Q (in CWS1; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9915974}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R130G(102)|p.R130*(63)|p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.R130R(1)|p.A121_F145del(1)|p.R130fs*4(1)|p.G129fs*51(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2	R130G(OV56_OVARY)|R130G(KMBC2_URINARY_TRACT)	31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		224	Substitution - Missense(102)|Substitution - Nonsense(63)|Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R130G(65)|p.R130*(61)|p.R130Q(43)|p.R130fs*4(12)|p.R130L(7)|p.R130P(4)|p.R55fs*1(4)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.R130R(1)|p.F56fs*2(1)|p.G129fs*50(1)|p.G129fs*51(1)	endometrium(125)|central_nervous_system(37)|prostate(21)|ovary(10)|lung(9)|skin(6)|haematopoietic_and_lymphoid_tissue(5)|breast(3)|cervix(2)|large_intestine(2)|soft_tissue(2)|thyroid(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)CGA>TGA		phosphatase and tensin homolog							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692904C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.388C>T	10.37:g.89692904C>T	ENSP00000361021:p.Arg130*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.R130*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1419	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	130	R->M: Does not affect the ability to inhibit AKT/PKB activation.	R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.388C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.299622	0.99789	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.7685	18.7776	0.91918	0.0:1.0:0.0:0.0	.	.	.	.	X	130	.	.	R	+	1	2	PTEN	89682884	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.527000	0.67123	2.411000	0.81874	0.655000	0.94253	CGA		0.403	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
ANO9	338440	broad.mit.edu	37	11	420528	420528	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:420528C>T	ENST00000332826.6	-	19	1805	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	574					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|negative regulation of intracellular calcium activated chloride channel activity (GO:1902939)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGCGTCCAGGCGGATCTCCAC	0.682																																						uc001lpi.2																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1720-1722)CGC>CAC		tumor protein p53 inducible protein 5							21.0	20.0	21.0					11																	420528		2198	4289	6487	SO:0001583	missense	338440					chloride channel complex	chloride channel activity	g.chr11:420528C>T	U33271	CCDS31326.1	11p15.5	2014-04-09	2008-08-28	2008-08-28	ENSG00000185101	ENSG00000185101		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	20679	protein-coding gene	gene with protein product			"""tumor protein p53 inducible protein 5"", ""transmembrane protein 16J"""	TP53I5, TMEM16J		9305847, 24692353	Standard	NM_001012302		Approved	PIG5	uc001lpi.2	A1A5B4	OTTHUMG00000165446	ENST00000332826.6:c.1721G>A	11.37:g.420528C>T	ENSP00000332788:p.Arg574His					ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	p.R574H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN			19	1806	-			574			Cytoplasmic (Potential).		B3KUC4|B4E134|Q8TEN4	Missense_Mutation	SNP	ENST00000332826.6	37	c.1721G>A	CCDS31326.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308245	0.81247	.	.	ENSG00000185101	ENST00000332826	T	0.69926	-0.44	4.08	4.08	0.47627	.	0.079234	0.46758	U	0.000265	T	0.72835	0.3510	M	0.90145	3.09	0.58432	D	0.999995	P;P	0.48162	0.761;0.906	B;B	0.43103	0.286;0.408	T	0.80115	-0.1517	10	0.62326	D	0.03	.	12.2738	0.54721	0.0:0.9129:0.0:0.0871	.	275;574	A1A5B4-2;A1A5B4	.;ANO9_HUMAN	H	574	ENSP00000332788:R574H	ENSP00000332788:R574H	R	-	2	0	ANO9	410528	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.633000	0.61318	1.984000	0.57885	0.462000	0.41574	CGC		0.682	ANO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384116.1	NM_001012302	
OR4D11	219986	broad.mit.edu	37	11	59271634	59271634	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:59271634G>T	ENST00000313253.1	+	1	586	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTGCTCTTGAGTTCTTGAT	0.493																																						uc001noa.1																			0				ovary(1)|skin(1)	2						c.(586-588)GAG>TAG		olfactory receptor, family 4, subfamily D,							227.0	215.0	219.0					11																	59271634		2201	4295	6496	SO:0001587	stop_gained	219986				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59271634G>T	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.586G>T	11.37:g.59271634G>T	ENSP00000320077:p.Glu196*						p.E196*	NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN			1	586	+			196			Helical; Name=5; (Potential).			Nonsense_Mutation	SNP	ENST00000313253.1	37	c.586G>T	CCDS31563.1	.	.	.	.	.	.	.	.	.	.	g	13.00	2.106811	0.37145	.	.	ENSG00000176200	ENST00000313253	.	.	.	5.44	4.53	0.55603	.	0.000000	0.51477	D	0.000092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.2443	12.8901	0.58066	0.0792:0.0:0.9208:0.0	.	.	.	.	X	196	.	ENSP00000320077:E196X	E	+	1	0	OR4D11	59028210	0.952000	0.32445	0.848000	0.33437	0.072000	0.16883	3.915000	0.56409	1.304000	0.44892	0.557000	0.71058	GAG		0.493	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394236.1	NM_001004706	
CTTN	2017	broad.mit.edu	37	11	70255986	70255986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:70255986G>A	ENST00000301843.8	+	5	417	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTTN_ENST00000376561.3_Missense_Mutation_p.E71K|CTTN_ENST00000346329.3_Missense_Mutation_p.E71K|CTTN_ENST00000527622.1_3'UTR	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	71					negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GACCCTTAAGGAGAAGGAACT	0.468																																						uc001opv.3																			0				ovary(1)	1						c.(211-213)GAG>AAG		cortactin isoform a							209.0	207.0	207.0					11																	70255986		2200	4294	6494	SO:0001583	missense	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70255986G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.211G>A	11.37:g.70255986G>A	ENSP00000301843:p.Glu71Lys					CTTN_uc001opu.2_Missense_Mutation_p.E71K|CTTN_uc001opw.3_Missense_Mutation_p.E71K	p.E71K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	5	417	+			71					Q8N707|Q96H99	Missense_Mutation	SNP	ENST00000301843.8	37	c.211G>A	CCDS41680.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302285	0.05495	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561	T;T;T	0.27890	1.71;1.69;1.64	5.12	4.19	0.49359	.	0.111189	0.64402	N	0.000009	T	0.12561	0.0305	N	0.02721	-0.515	0.80722	D	1	B;B;B	0.12013	0.005;0.001;0.0	B;B;B	0.13407	0.006;0.009;0.002	T	0.12528	-1.0544	10	0.05721	T	0.95	-66.2766	14.9014	0.70681	0.0:0.0:0.8554:0.1446	.	71;71;71	Q96H99;Q14247;Q8N707	.;SRC8_HUMAN;.	K	71	ENSP00000317189:E71K;ENSP00000301843:E71K;ENSP00000365745:E71K	ENSP00000301843:E71K	E	+	1	0	CTTN	69933634	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	2.684000	0.46951	1.122000	0.41944	-0.311000	0.09066	GAG		0.468	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	
PRB3	5544	broad.mit.edu	37	12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420518G>A	ENST00000279573.7	-	3	800	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB3_ENST00000538488.1_Missense_Mutation_p.P201L|PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617																																						uc001qzs.2																			0				skin(1)	1						c.(664-666)CCA>CTA		proline-rich protein BstNI subfamily 3							67.0	32.0	44.0					12																	11420518		1671	3268	4939	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420518G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.665C>T	12.37:g.11420518G>A	ENSP00000279573:p.Pro222Leu					PRB4_uc001qzf.1_Intron	p.P222L	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	703	-			222			9.|10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.665C>T		.	.	.	.	.	.	.	.	.	.	.	6.581	0.475470	0.12521	.	.	ENSG00000197870	ENST00000538488	T	0.06608	3.28	1.25	0.0362	0.14191	.	0.262416	0.17612	U	0.168043	T	0.10078	0.0247	.	.	.	0.09310	N	1	D	0.71674	0.998	P	0.52343	0.696	T	0.13335	-1.0513	9	0.62326	D	0.03	.	5.8164	0.18495	0.0:0.0:0.3623:0.6377	.	222	Q04118	PRB3_HUMAN	L	201	ENSP00000442626:P201L	ENSP00000442626:P201L	P	-	2	0	PRB3	11311785	0.003000	0.15002	0.002000	0.10522	0.010000	0.07245	1.332000	0.33805	-0.002000	0.14469	0.194000	0.17425	CCG		0.617	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249	
PRB3	5544	broad.mit.edu	37	12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000538488.1_Missense_Mutation_p.P180L|PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000440870.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632																																						uc001qzs.2																			0				skin(1)	1						c.(601-603)CCG>CTG		proline-rich protein BstNI subfamily 3							83.0	114.0	104.0					12																	11420581		1628	3653	5281	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420581G>A			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.602C>T	12.37:g.11420581G>A	ENSP00000279573:p.Pro201Leu					PRB4_uc001qzf.1_Intron	p.P201L	NM_006249	NP_006240	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		3	640	-			201		Missing (in allele S).	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	Missense_Mutation	SNP	ENST00000279573.7	37	c.602C>T		.	.	.	.	.	.	.	.	.	.	.	7.574	0.667426	0.14710	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.06608	3.34;3.28	0.894	0.894	0.19242	.	0.000000	0.26109	U	0.026296	T	0.13072	0.0317	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.63877	0.919	T	0.04320	-1.0960	9	0.49607	T	0.09	.	4.1826	0.10383	0.0:0.0:0.6006:0.3994	.	201	Q04118	PRB3_HUMAN	L	201;180	ENSP00000371264:P201L;ENSP00000442626:P180L	ENSP00000279573:P201L	P	-	2	0	PRB3	11311848	0.099000	0.21834	0.002000	0.10522	0.018000	0.09664	2.322000	0.43814	0.809000	0.34255	0.134000	0.15878	CCG		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249	
MYF6	4618	broad.mit.edu	37	12	81101720	81101720	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:81101720C>T	ENST00000228641.3	+	1	444	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	74					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CACACTGCCCCGGCCAGTGTC	0.652																																						uc001szf.1																			0				central_nervous_system(1)	1						c.(220-222)CCC>CCT		myogenic factor 6							29.0	36.0	34.0					12																	81101720		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101720C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.222C>T	12.37:g.81101720C>T							p.P74P	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	275	+			74					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.222C>T	CCDS9019.1																																																																																				0.652	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469	
UBC	7316	broad.mit.edu	37	12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000536661.1_5'Flank|UBC_ENST00000339647.5_Missense_Mutation_p.A350V|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522																																						uc001ugs.3																			0				ovary(2)	2						c.(1048-1050)GCC>GTC		ubiquitin C							191.0	172.0	179.0					12																	125397269		2203	4300	6503	SO:0001583	missense	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397269G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1049C>T	12.37:g.125397269G>A	ENSP00000441543:p.Ala350Val					UBC_uc001ugr.2_Intron|UBC_uc001ugu.1_Missense_Mutation_p.A350V|UBC_uc001ugt.2_Missense_Mutation_p.A350V|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.A198V	p.A350V	NM_021009	NP_066289	P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	2	1497	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		350			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000536769.1	37	c.1049C>T	CCDS9260.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.416852	0.62511	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.74842	-0.88;-0.88;-0.88	3.17	3.17	0.36434	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.343088	0.19197	N	0.120281	T	0.82226	0.4991	M	0.74546	2.27	0.80722	D	1	P;P;P	0.46621	0.881;0.668;0.715	P;P;B	0.57244	0.816;0.63;0.365	D	0.84144	0.0419	10	0.72032	D	0.01	.	11.8774	0.52554	0.0:0.0:1.0:0.0	.	439;350;350	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	V	350;350;274;350;274	ENSP00000441543:A350V;ENSP00000344818:A350V;ENSP00000438394:A274V	ENSP00000344818:A350V	A	-	2	0	UBC	123963222	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.436000	0.80404	1.615000	0.50252	0.556000	0.70494	GCC		0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009	
CCNA1	8900	broad.mit.edu	37	13	37011790	37011790	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr13:37011790T>A	ENST00000255465.4	+	3	586	c.322T>A	c.(322-324)Tct>Act	p.S108T	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.S107T|CCNA1_ENST00000440264.1_Missense_Mutation_p.S64T|CCNA1_ENST00000449823.1_Missense_Mutation_p.S64T			P78396	CCNA1_HUMAN	cyclin A1	108					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGTGTTATTCTGGATCAGA	0.468																																						uc001uvr.3																			0				lung(2)|skin(2)|ovary(1)	5						c.(322-324)TCT>ACT		cyclin A1 isoform a							109.0	118.0	115.0					13																	37011790		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37011790T>A	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.322T>A	13.37:g.37011790T>A	ENSP00000255465:p.Ser108Thr					CCNA1_uc010teo.1_Missense_Mutation_p.S64T|CCNA1_uc010abq.2_Missense_Mutation_p.S64T|CCNA1_uc010abp.2_Missense_Mutation_p.S64T|CCNA1_uc001uvs.3_Missense_Mutation_p.S107T|CCNA1_uc010abr.2_RNA	p.S108T	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	3	672	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	108					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.322T>A	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860855	0.51482	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.21361	2.12;2.12;2.01;2.01	5.47	2.97	0.34412	.	0.346395	0.34555	N	0.003876	T	0.18467	0.0443	M	0.62723	1.935	0.32217	N	0.575713	B;B	0.25772	0.134;0.083	B;B	0.23419	0.046;0.014	T	0.13469	-1.0508	10	0.31617	T	0.26	.	5.0412	0.14460	0.0:0.1645:0.1539:0.6816	.	107;108	P78396-2;P78396	.;CCNA1_HUMAN	T	64;64;107;108	ENSP00000400666:S64T;ENSP00000409873:S64T;ENSP00000396479:S107T;ENSP00000255465:S108T	ENSP00000255465:S108T	S	+	1	0	CCNA1	35909790	1.000000	0.71417	0.969000	0.41365	0.912000	0.54170	1.278000	0.33179	0.337000	0.23665	0.374000	0.22700	TCT		0.468	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
NPAP1	23742	broad.mit.edu	37	15	24921520	24921520	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr15:24921520T>C	ENST00000329468.2	+	1	980	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	169					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCGGTGCAGATCGAAGGGGAG	0.612																																						uc001ywo.2																			0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(505-507)ATC>ACC		hypothetical protein LOC23742							44.0	38.0	40.0					15																	24921520		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921520T>C	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.506T>C	15.37:g.24921520T>C	ENSP00000333735:p.Ile169Thr						p.I169T	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	980	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	169						Missense_Mutation	SNP	ENST00000329468.2	37	c.506T>C	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	1.246	-0.620075	0.03636	.	.	ENSG00000185823	ENST00000329468	T	0.10573	2.86	2.12	-0.608	0.11611	.	.	.	.	.	T	0.04952	0.0133	N	0.19112	0.55	0.09310	N	1	B	0.24092	0.097	B	0.18561	0.022	T	0.44483	-0.9325	9	0.15499	T	0.54	.	2.7646	0.05316	0.0:0.4798:0.304:0.2161	.	169	Q9NZP6	CO002_HUMAN	T	169	ENSP00000333735:I169T	ENSP00000333735:I169T	I	+	2	0	C15orf2	22472613	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.240000	0.02914	0.169000	0.19679	-0.495000	0.04643	ATC		0.612	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																						uc010uny.1																			12	Substitution - coding silent(12)		kidney(6)|endometrium(4)|prostate(2)		0						c.(439-441)GTA>GTG		golgi autoantigen, golgin subfamily a, 6D-like																																				SO:0001819	synonymous_variant	647042							g.chr15:83014106T>C																												ENST00000557886.1:c.477A>G	15.37:g.83014106T>C						GOLGA6L10_uc010unt.1_RNA|uc002bhl.2_Intron|uc002bhm.2_Intron|GOLGA6L10_uc002bia.1_5'Flank	p.V147V	NM_198181	NP_937824	A6NI86	GG6LA_HUMAN			6	539	-			159			Potential.			Silent	SNP	ENST00000557886.1	37	c.441A>G																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
MYO15A	51168	broad.mit.edu	37	17	18024801	18024801	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr17:18024801delG	ENST00000205890.5	+	2	3025	c.2687delG	c.(2686-2688)aggfs	p.R896fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	896					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACCGCCCAGGGCCGGGGCC	0.741																																						uc010vxh.1																			0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(2686-2688)AGGfs		myosin XV							2.0	3.0	2.0					17																	18024801		1376	3189	4565	SO:0001589	frameshift_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18024801delG	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.2687delG	17.37:g.18024801delG	ENSP00000205890:p.Arg896fs						p.R896fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			2	3025	+	all_neural(463;0.228)		896			Myosin head-like.		B4DFC7	Frame_Shift_Del	DEL	ENST00000205890.5	37	c.2687delG	CCDS42271.1																																																																																				0.741	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
DSG4	147409	broad.mit.edu	37	18	28992962	28992962	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:28992962C>T	ENST00000308128.4	+	16	2662	c.2527C>T	c.(2527-2529)Ctt>Ttt	p.L843F	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.L862F|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	843					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTAGGACTCTTGCTGAGAT	0.438																																						uc002kwq.2																			0				central_nervous_system(5)|ovary(3)	8						c.(2527-2529)CTT>TTT		desmoglein 4 isoform 2 preproprotein							143.0	134.0	137.0					18																	28992962		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28992962C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2527C>T	18.37:g.28992962C>T	ENSP00000311859:p.Leu843Phe					DSG4_uc002kwr.2_Missense_Mutation_p.L862F	p.L843F	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		16	2662	+			843			Cytoplasmic (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2527C>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483431	0.63962	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	D;D	0.88124	-2.34;-2.34	5.64	5.64	0.86602	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.94574	0.8252	M	0.92507	3.315	0.35045	D	0.760105	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97814	1.0252	9	0.87932	D	0	.	12.5637	0.56297	0.0:0.8809:0.0:0.1191	.	862;843	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	F	843;862	ENSP00000311859:L843F;ENSP00000352785:L862F	ENSP00000311859:L843F	L	+	1	0	DSG4	27246960	0.773000	0.28580	1.000000	0.80357	0.989000	0.77384	1.076000	0.30729	2.650000	0.89964	0.650000	0.86243	CTT		0.438	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986	
LMAN1	3998	broad.mit.edu	37	18	57014768	57014768	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:57014768A>G	ENST00000251047.5	-	7	1516	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	267	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTCAGTCAACTGGAAAGTC	0.313																																						uc002lhz.2																			0				skin(1)	1						c.(799-801)TTG>CTG		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						34.0	38.0	37.0					18																	57014768		2203	4300	6503	SO:0001819	synonymous_variant	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57014768A>G	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.799T>C	18.37:g.57014768A>G							p.L267L	NM_005570	NP_005561	P49257	LMAN1_HUMAN			7	831	-		Colorectal(73;0.0946)	267			Lumenal (Potential).|L-type lectin-like.		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Silent	SNP	ENST00000251047.5	37	c.799T>C	CCDS11974.1																																																																																				0.313	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570	
CEACAM20	125931	broad.mit.edu	37	19	45016954	45016954	+	RNA	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:45016954C>T	ENST00000454753.1	-	0	1764							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGTGCTCCTCCTTCGGGATGG	0.587											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ejn.1																			0				large_intestine(2)	2						c.(1483-1485)AAG>AAA		carcinoembryonic antigen-related cell adhesion							99.0	104.0	102.0					19																	45016954		1932	4131	6063			125931					integral to membrane		g.chr19:45016954C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45016954C>T			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	p.K495K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN			9	1501	-		Prostate(69;0.0352)	495			Cytoplasmic (Potential).			Silent	SNP	ENST00000454753.1	37	c.1485G>A																																																																																					0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444	
A1BG	1	broad.mit.edu	37	19	58858802	58858802	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:58858802C>T	ENST00000263100.3	-	7	1458	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG_ENST00000596924.1_5'UTR|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	466	Ig-like V-type 5.					blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTGTAGTTGCCGGCGTGCTG	0.692																																						uc002qsd.3																			0					0						c.(1396-1398)GGC>GAC		alpha 1B-glycoprotein precursor							18.0	22.0	20.0					19																	58858802		2196	4297	6493	SO:0001583	missense	1					extracellular region		g.chr19:58858802C>T		CCDS12976.1	19q13.43	2013-10-15			ENSG00000121410	ENSG00000121410		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5	protein-coding gene	gene with protein product		138670				2591067	Standard	NM_130786		Approved		uc002qsd.4	P04217	OTTHUMG00000183507	ENST00000263100.3:c.1397G>A	19.37:g.58858802C>T	ENSP00000263100:p.Gly466Asp					NCRNA00181_uc002qse.2_5'Flank	p.G466D	NM_130786	NP_570602	P04217	A1BG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)	7	1459	-		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)	466			Ig-like V-type 5.		A8K052|Q68CK0|Q8IYJ6|Q96P39	Missense_Mutation	SNP	ENST00000263100.3	37	c.1397G>A	CCDS12976.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218866	0.79464	.	.	ENSG00000121410	ENST00000263100	T	0.01572	4.76	3.68	3.68	0.42216	Immunoglobulin-like fold (1);	0.000000	0.43416	D	0.000564	T	0.12902	0.0313	M	0.92649	3.33	0.32621	N	0.523343	D	0.89917	1.0	D	0.97110	1.0	T	0.08576	-1.0715	10	0.87932	D	0	.	11.1708	0.48571	0.0:1.0:0.0:0.0	.	466	P04217	A1BG_HUMAN	D	466	ENSP00000263100:G466D	ENSP00000263100:G466D	G	-	2	0	A1BG	63550614	0.000000	0.05858	0.981000	0.43875	0.784000	0.44337	-0.180000	0.09754	2.101000	0.63845	0.460000	0.39030	GGC		0.692	A1BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466930.1	NM_130786	
PIGF	5281	broad.mit.edu	37	2	46808672	46808672	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:46808672A>G	ENST00000281382.6	-	6	775	c.605T>C	c.(604-606)aTt>aCt	p.I202T	PIGF_ENST00000306465.4_3'UTR|RHOQ_ENST00000238738.4_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA	NM_002643.3	NP_002634.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	202					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ethanolaminephosphotransferase activity (GO:0004307)			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAGTGGTGAAATAACAAGGCC	0.418																																						uc002rvd.2																			0					0						c.(604-606)ATT>ACT		phosphatidylinositol glycan anchor biosynthesis,							42.0	41.0	41.0					2																	46808672		2203	4299	6502	SO:0001583	missense	5281				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity	g.chr2:46808672A>G		CCDS1827.1, CCDS1828.1	2p21-p16	2013-02-26	2006-06-28		ENSG00000151665	ENSG00000151665		"""Phosphatidylinositol glycan anchor biosynthesis"""	8962	protein-coding gene	gene with protein product		600153	"""phosphatidylinositol glycan, class F"""			8575782, 8463218	Standard	NM_173074		Approved		uc002rvd.3	Q07326	OTTHUMG00000128816	ENST00000281382.6:c.605T>C	2.37:g.46808672A>G	ENSP00000281382:p.Ile202Thr					RHOQ_uc002rva.2_3'UTR|uc002rvb.2_5'Flank|PIGF_uc002rvc.2_3'UTR	p.I202T	NM_002643	NP_002634	Q07326	PIGF_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		6	769	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	202			Helical; (Potential).		Q8WW20	Missense_Mutation	SNP	ENST00000281382.6	37	c.605T>C	CCDS1827.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.295085	0.23564	.	.	ENSG00000151665	ENST00000281382	.	.	.	5.54	1.84	0.25277	.	0.258782	0.45361	N	0.000376	T	0.43964	0.1271	M	0.62266	1.93	0.09310	N	0.999999	B	0.27910	0.193	B	0.31390	0.129	T	0.39396	-0.9616	9	0.49607	T	0.09	-2.1903	9.73	0.40355	0.8028:0.0:0.1972:0.0	.	202	Q07326	PIGF_HUMAN	T	202	.	ENSP00000281382:I202T	I	-	2	0	PIGF	46662176	0.984000	0.35163	0.036000	0.18154	0.992000	0.81027	3.473000	0.53122	0.166000	0.19597	-0.297000	0.09499	ATT		0.418	PIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250749.2	NM_173074	
LBX2	85474	broad.mit.edu	37	2	74729804	74729804	+	5'Flank	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:74729804G>A	ENST00000377566.4	-	0	0				LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000550249.1_Intron|PCGF1_ENST00000480844.2_5'Flank|RP11-523H20.3_ENST00000606287.1_RNA|LBX2_ENST00000341396.2_Intron|LBX2_ENST00000460508.3_Silent_p.C61C	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTTGGGGGCGGCAGGCCTGTG	0.602																																						uc002slw.2																			0					0						c.(181-183)TGC>TGT		ladybird homeobox 2							63.0	68.0	66.0					2																	74729804		2203	4300	6503	SO:0001631	upstream_gene_variant	85474					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:74729804G>A	AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595		2.37:g.74729804G>A	Exception_encountered					LOC151534_uc002slx.2_RNA	p.C61C	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN			1	640	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q7Z5Y8	Silent	SNP	ENST00000377566.4	37	c.183C>T																																																																																					0.602	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1	NM_001009812	
EVA1A	84141	broad.mit.edu	37	2	75720689	75720689	+	Silent	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:75720689G>A	ENST00000233712.1	-	4	569	c.132C>T	c.(130-132)atC>atT	p.I44I	EVA1A_ENST00000410071.1_Silent_p.I44I|EVA1A_ENST00000410010.1_Silent_p.I32I|EVA1A_ENST00000410113.1_Silent_p.I44I|EVA1A_ENST00000393913.3_Silent_p.I44I|EVA1A_ENST00000490746.1_Intron	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	44	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											GCACCAGCCCGATGCACACGC	0.537																																						uc002sni.2																			0					0						c.(130-132)ATC>ATT		family with sequence similarity 176, member A							34.0	32.0	33.0					2																	75720689		2203	4300	6503	SO:0001819	synonymous_variant	84141				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		g.chr2:75720689G>A	BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.132C>T	2.37:g.75720689G>A						FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	p.I44I	NM_001135032	NP_001128504	Q9H8M9	F176A_HUMAN			4	610	-			44			Necessary for the localization and biological activity.|Helical; (Potential).		D6W5J3|Q9HC41	Silent	SNP	ENST00000233712.1	37	c.132C>T	CCDS1959.1																																																																																				0.537	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328707.1	NM_032181	
DNAH7	56171	broad.mit.edu	37	2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348																																						uc002utj.3																			0				skin(10)|ovary(2)	12						c.(9121-9123)GAA>AAA		dynein, axonemal, heavy chain 7							124.0	114.0	117.0					2																	196689149		1822	4079	5901	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196689149C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9121G>A	2.37:g.196689149C>T	ENSP00000311273:p.Glu3041Lys						p.E3041K	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			49	9222	-			3041			AAA 5 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9121G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473197	0.63737	.	.	ENSG00000118997	ENST00000312428	T	0.31247	1.5	4.97	4.97	0.65823	.	0.053821	0.64402	D	0.000001	T	0.73353	0.3576	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.85034	0.0919	10	0.87932	D	0	.	18.3781	0.90441	0.0:1.0:0.0:0.0	.	3041	Q8WXX0	DYH7_HUMAN	K	3041	ENSP00000311273:E3041K	ENSP00000311273:E3041K	E	-	1	0	DNAH7	196397394	1.000000	0.71417	0.999000	0.59377	0.138000	0.21146	7.475000	0.81041	2.740000	0.93945	0.650000	0.86243	GAA		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
ABI2	10152	broad.mit.edu	37	2	204260428	204260428	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:204260428C>T	ENST00000422511.2	+	7	806	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ABI2_ENST00000261016.6_Nonsense_Mutation_p.R208*|ABI2_ENST00000261017.5_Nonsense_Mutation_p.R253*|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Nonsense_Mutation_p.R204*|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261018.7_Nonsense_Mutation_p.R45*|ABI2_ENST00000424558.1_Nonsense_Mutation_p.R253*|ABI2_ENST00000295851.5_Nonsense_Mutation_p.R259*			Q9NYB9	ABI2_HUMAN	abl-interactor 2	259	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GAGCAGCAGTCGAGAGAACAG	0.478																																						uc002vaa.2																			0					0						c.(775-777)CGA>TGA		abl interactor 2							214.0	182.0	193.0					2																	204260428		2203	4300	6503	SO:0001587	stop_gained	10152				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding	g.chr2:204260428C>T	AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.775C>T	2.37:g.204260428C>T	ENSP00000396249:p.Arg259*					ABI2_uc010zig.1_RNA|ABI2_uc002uzz.2_Nonsense_Mutation_p.R253*|ABI2_uc010zih.1_Intron|ABI2_uc010zii.1_Nonsense_Mutation_p.R253*|ABI2_uc010zij.1_Nonsense_Mutation_p.R197*|ABI2_uc002vab.2_Nonsense_Mutation_p.R208*|ABI2_uc010zik.1_Nonsense_Mutation_p.R45*|ABI2_uc010zil.1_Nonsense_Mutation_p.R94*|ABI2_uc010zim.1_Nonsense_Mutation_p.R45*|ABI2_uc002vac.2_Nonsense_Mutation_p.R45*|ABI2_uc010zin.1_Intron	p.R259*	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN			7	1010	+			259			Pro-rich.		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Nonsense_Mutation	SNP	ENST00000422511.2	37	c.775C>T		.	.	.	.	.	.	.	.	.	.	C	38	7.163097	0.98107	.	.	ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018	.	.	.	5.81	4.93	0.64822	.	0.101668	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5701	16.3042	0.82842	0.1335:0.8665:0.0:0.0	.	.	.	.	X	259;253;204;253;208;259;259;45	.	ENSP00000261016:R208X	R	+	1	2	ABI2	203968673	0.999000	0.42202	0.995000	0.50966	0.994000	0.84299	1.713000	0.37951	1.451000	0.47736	0.650000	0.86243	CGA		0.478	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000336179.2	NM_005759	
KIF16B	55614	broad.mit.edu	37	20	16337022	16337022	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:16337022C>T	ENST00000354981.2	-	23	3731	c.3574G>A	c.(3574-3576)Gtc>Atc	p.V1192I	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Missense_Mutation_p.V1192I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1192	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCAGAGGACGTAGCGTGGG	0.498																																						uc002wpg.1																			0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3574-3576)GTC>ATC		kinesin-like motor protein C20orf23							134.0	105.0	115.0					20																	16337022		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16337022C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3574G>A	20.37:g.16337022C>T	ENSP00000347076:p.Val1192Ile					KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.1_Missense_Mutation_p.V1141I	p.V1192I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			23	3732	-			1192			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3574G>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794209	0.50102	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997	T;T	0.28895	1.59;1.59	5.6	4.65	0.58169	Phox homologous domain (4);	.	.	.	.	T	0.18964	0.0455	N	0.11560	0.145	0.80722	D	1	B	0.17268	0.021	B	0.15052	0.012	T	0.04723	-1.0931	9	0.51188	T	0.08	.	14.27	0.66147	0.0:0.9284:0.0:0.0715	.	1192	Q96L93	KI16B_HUMAN	I	1192;1192;1036	ENSP00000347076:V1192I;ENSP00000347995:V1192I	ENSP00000347076:V1192I	V	-	1	0	KIF16B	16285022	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	3.479000	0.53165	2.795000	0.96236	0.643000	0.83706	GTC		0.498	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
PCK1	5105	broad.mit.edu	37	20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A	rs368269624		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:56137841G>A	ENST00000319441.4	+	4	660	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_ENST00000535860.1_Missense_Mutation_p.V34M|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	166					carbohydrate metabolic process (GO:0005975)|drug metabolic process (GO:0017144)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycerol biosynthetic process from pyruvate (GO:0046327)|internal protein amino acid acetylation (GO:0006475)|oxaloacetate metabolic process (GO:0006107)|response to activity (GO:0014823)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxylic acid binding (GO:0031406)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617																																						uc002xyn.3																			0				skin(1)	1						c.(496-498)GTG>ATG		cytosolic phosphoenolpyruvate carboxykinase 1		G	MET/VAL	0,4406		0,0,2203	72.0	61.0	65.0		496	5.1	1.0	20		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK1	NM_002591.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	166/623	56137841	1,13005	2203	4300	6503	SO:0001583	missense	5105				gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr20:56137841G>A		CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	4.1.1.32		8724	protein-coding gene	gene with protein product		614168				1492743	Standard	NM_002591		Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.496G>A	20.37:g.56137841G>A	ENSP00000319814:p.Val166Met					PCK1_uc010zzm.1_Intron	p.V166M	NM_002591	NP_002582	P35558	PCKGC_HUMAN	BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)		4	659	+	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		166					A8K437|B4DT64|Q8TCA3|Q9UJD2	Missense_Mutation	SNP	ENST00000319441.4	37	c.496G>A	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524913	0.85600	0.0	1.16E-4	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.10860	2.83;2.83	5.13	5.13	0.70059	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.53110	0.1776	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73953	-0.3820	10	0.87932	D	0	-43.4513	18.9476	0.92627	0.0:0.0:1.0:0.0	.	166	P35558	PCKGC_HUMAN	M	166;34	ENSP00000319814:V166M;ENSP00000444342:V34M	ENSP00000319814:V166M	V	+	1	0	PCK1	55571247	1.000000	0.71417	1.000000	0.80357	0.598000	0.36846	9.015000	0.93640	2.543000	0.85770	0.655000	0.94253	GTG		0.617	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079851.2		
NRIP1	8204	broad.mit.edu	37	21	16340303	16340303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:16340303G>A	ENST00000400202.1	-	3	923	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	NRIP1_ENST00000400199.1_Missense_Mutation_p.H71Y|NRIP1_ENST00000318948.4_Missense_Mutation_p.H71Y			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	71	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATATGTATGTGTATTGAGA	0.458																																						uc002yjx.2																			0					0						c.(211-213)CAT>TAT		nuclear receptor interacting protein 1							61.0	54.0	57.0					21																	16340303		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16340303G>A	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.211C>T	21.37:g.16340303G>A	ENSP00000383063:p.His71Tyr						p.H71Y	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	809	-			71					Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.211C>T	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	G	8.369	0.834973	0.16820	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.07908	3.15;3.15;3.15	5.58	2.46	0.29980	.	0.694414	0.14632	N	0.307744	T	0.04861	0.0131	N	0.19112	0.55	0.24589	N	0.993835	B	0.02656	0.0	B	0.04013	0.001	T	0.44467	-0.9326	10	0.13853	T	0.58	-3.9649	7.5484	0.27781	0.0862:0.0:0.3754:0.5384	.	71	P48552	NRIP1_HUMAN	Y	71	ENSP00000383060:H71Y;ENSP00000383063:H71Y;ENSP00000327213:H71Y	ENSP00000327213:H71Y	H	-	1	0	NRIP1	15262174	0.593000	0.26840	0.921000	0.36526	0.805000	0.45488	1.785000	0.38684	0.706000	0.31912	-0.188000	0.12872	CAT		0.458	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
TIAM1	7074	broad.mit.edu	37	21	32639088	32639088	+	Silent	SNP	G	G	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:32639088G>C	ENST00000286827.3	-	5	672	c.201C>G	c.(199-201)tcC>tcG	p.S67S	TIAM1_ENST00000541036.1_Silent_p.S67S|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	67					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCAGCCAGGGACTGGGGGA	0.617																																						uc002yow.1																			0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(199-201)TCC>TCG		T-cell lymphoma invasion and metastasis 1							50.0	53.0	52.0					21																	32639088		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639088G>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.201C>G	21.37:g.32639088G>C						TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	p.S67S	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	673	-			67					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.201C>G	CCDS13609.1																																																																																				0.617	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
CBR1	873	broad.mit.edu	37	21	37445093	37445093	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:37445093G>T	ENST00000290349.6	+	3	922	c.747G>T	c.(745-747)gaG>gaT	p.E249D	SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	249					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	AAGGTGCAGAGACCCCTGTGT	0.572																																						uc002yvb.1																			0					0						c.(745-747)GAG>GAT		carbonyl reductase 1	Acetohexamide(DB00414)|Lubiprostone(DB01046)						68.0	68.0	68.0					21																	37445093		2203	4300	6503	SO:0001583	missense	873				drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding	g.chr21:37445093G>T		CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.747G>T	21.37:g.37445093G>T	ENSP00000290349:p.Glu249Asp					uc011aea.1_Intron|SETD4_uc002yva.2_Intron|CBR1_uc010gmy.1_3'UTR	p.E249D	NM_001757	NP_001748	P16152	CBR1_HUMAN			3	876	+			249					B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	ENST00000290349.6	37	c.747G>T	CCDS13641.1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.577331	0.28180	.	.	ENSG00000159228	ENST00000290349	T	0.09350	2.99	5.85	2.45	0.29901	NAD(P)-binding domain (1);	0.156920	0.56097	D	0.000024	T	0.07007	0.0178	N	0.20483	0.58	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29427	-1.0012	10	0.25751	T	0.34	-24.3451	11.7406	0.51790	0.2384:0.0:0.7616:0.0	.	249	P16152	CBR1_HUMAN	D	249	ENSP00000290349:E249D	ENSP00000290349:E249D	E	+	3	2	CBR1	36366963	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.679000	0.46909	0.724000	0.32296	-0.136000	0.14681	GAG		0.572	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194633.2		
TSPEAR	54084	broad.mit.edu	37	21	45953585	45953585	+	Silent	SNP	G	G	A	rs201533971	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:45953585G>A	ENST00000323084.4	-	3	590	c.525C>T	c.(523-525)tgC>tgT	p.C175C	TSPEAR_ENST00000397916.1_Silent_p.C107C	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	175	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGGGAGGCCGCAGTCCGTGG	0.682													G|||	2	0.000399361	0.0	0.0014	5008	,	,		13233	0.0		0.0	False		,,,				2504	0.001					uc002zfe.1																			0					0						c.(523-525)TGC>TGT		chromosome 21 open reading frame 29 precursor		G		1,4373		0,1,2186	21.0	21.0	21.0		525	0.0	1.0	21		21	0,8550		0,0,4275	no	coding-synonymous	TSPEAR	NM_144991.2		0,1,6461	AA,AG,GG		0.0,0.0229,0.0077		175/670	45953585	1,12923	2187	4275	6462	SO:0001819	synonymous_variant	54084				cell adhesion	extracellular region	structural molecule activity	g.chr21:45953585G>A	AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.525C>T	21.37:g.45953585G>A						C21orf29_uc010gpv.1_Silent_p.C107C	p.C175C	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN			3	591	-			175			TSP N-terminal.			Silent	SNP	ENST00000323084.4	37	c.525C>T	CCDS13712.1																																																																																				0.682	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
RAF1	5894	broad.mit.edu	37	3	12632402	12632402	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:12632402T>C	ENST00000251849.4	-	12	1704	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	RAF1_ENST00000442415.2_Missense_Mutation_p.Q442R|RAF1_ENST00000534997.1_Missense_Mutation_p.Q207R|RAF1_ENST00000542177.1_Missense_Mutation_p.Q341R	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTCGCACCACTGGGTCACAAT	0.542			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													uc003bxf.3				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|SRGAP3/RAF1(4)	0				central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14						c.(1264-1266)CAG>CGG		v-raf-1 murine leukemia viral oncogene homolog	Sorafenib(DB00398)						135.0	125.0	129.0					3																	12632402		2203	4300	6503	SO:0001583	missense	5894	Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12632402T>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1265A>G	3.37:g.12632402T>C	ENSP00000251849:p.Gln422Arg					RAF1_uc011aut.1_Missense_Mutation_p.Q207R|RAF1_uc011auu.1_Missense_Mutation_p.Q340R	p.Q422R	NM_002880	NP_002871	P04049	RAF1_HUMAN			12	1680	-			422			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1265A>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664491	0.88251	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23	4.75	4.75	0.60458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97907	0.9312	N	0.16368	0.405	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.994	D;D;D	0.97110	1.0;1.0;0.999	D	0.99814	1.1043	10	0.87932	D	0	.	14.7128	0.69247	0.0:0.0:0.0:1.0	.	341;207;422	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	R	422;442;301;207;341	ENSP00000251849:Q422R;ENSP00000401888:Q442R;ENSP00000398591:Q301R;ENSP00000441186:Q207R;ENSP00000443567:Q341R	ENSP00000251849:Q422R	Q	-	2	0	RAF1	12607402	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.820000	0.86633	2.115000	0.64714	0.460000	0.39030	CAG		0.542	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
SCN5A	6331	broad.mit.edu	37	3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:38591931C>G	ENST00000333535.4	-	28	6081	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_ENST00000425664.1_Missense_Mutation_p.D1960H|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000423572.2_Missense_Mutation_p.D1977H|SCN5A_ENST00000414099.2_Missense_Mutation_p.D1960H|SCN5A_ENST00000451551.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000455624.2_Missense_Mutation_p.D1945H|SCN5A_ENST00000443581.1_Missense_Mutation_p.D1977H|SCN5A_ENST00000450102.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000449557.2_Missense_Mutation_p.D1924H|SCN5A_ENST00000413689.1_Missense_Mutation_p.D1978H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1978					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTGACACTGTCATAGGAGGGT	0.602																																						uc003cio.2																			0				ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(5932-5934)GAC>CAC		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						42.0	47.0	45.0					3																	38591931		2022	4172	6194	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591931C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5932G>C	3.37:g.38591931C>G	ENSP00000328968:p.Asp1978His					SCN5A_uc003cin.2_Missense_Mutation_p.D1977H|SCN5A_uc003cil.3_Missense_Mutation_p.D1978H|SCN5A_uc010hhi.2_Missense_Mutation_p.D1960H|SCN5A_uc010hhk.2_Missense_Mutation_p.D1945H|SCN5A_uc011ayr.1_Missense_Mutation_p.D1924H	p.D1978H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	6126	-	Medulloblastoma(35;0.163)		1978	D->A: No effect on interaction with NEDD4, NEDD4L or WWP2.				A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5932G>C	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.565807	0.65651	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96856	-4.02;-4.03;-4.03;-4.08;-4.03;-4.02;-4.03;-4.15;-4.08;-4.08	4.95	4.95	0.65309	.	0.058474	0.64402	D	0.000003	D	0.95529	0.8547	N	0.08118	0	0.54753	D	0.999986	D;D;P;D;D;D	0.89917	0.959;1.0;0.64;0.999;0.958;1.0	P;D;B;D;P;D	0.85130	0.496;0.997;0.387;0.973;0.693;0.996	D	0.97067	0.9775	10	0.62326	D	0.03	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1924;1945;1960;1978;1977;1978	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	H	1960;1977;1978;1924;1977;1960;1978;1945;1924;1924	ENSP00000398962:D1960H;ENSP00000398266:D1977H;ENSP00000410257:D1978H;ENSP00000388797:D1924H;ENSP00000397915:D1977H;ENSP00000416634:D1960H;ENSP00000328968:D1978H;ENSP00000399524:D1945H;ENSP00000403355:D1924H;ENSP00000413996:D1924H	ENSP00000328968:D1978H	D	-	1	0	SCN5A	38566935	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	4.781000	0.62389	2.573000	0.86826	0.655000	0.94253	GAC		0.602	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
SLC9A9	285195	broad.mit.edu	37	3	143212496	143212496	+	Splice_Site	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:143212496T>C	ENST00000316549.6	-	11	1522	c.1314A>G	c.(1312-1314)tcA>tcG	p.S438S		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	438					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCACATACCTGAAAACATCA	0.403																																						uc003evn.2																			0				ovary(2)|skin(1)	3						c.(1312-1314)TCA>TCG		solute carrier family 9 (sodium/hydrogen							118.0	115.0	116.0					3																	143212496		2203	4300	6503	SO:0001630	splice_region_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143212496T>C	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1315+1A>G	3.37:g.143212496T>C							p.S438S	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			11	1496	-			438			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.1314A>G	CCDS33872.1																																																																																				0.403	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653	Silent
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	C	T	rs192110951	byFrequency	TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:55597497C>T	ENST00000288135.5	+	15	2242	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in dbSNP:rs56094246). {ECO:0000269|PubMed:17344846}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S715del(7)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				C|||	2	0.000399361	0.0	0.0	5008	,	,		20107	0.002		0.0	False		,,,				2504	0.0					uc010igr.2		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	Mis|O	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		GIST|epithelioma	GIST|AML|TGCT|mastocytosis|mucosal melanoma		7	Deletion - In frame(7)	p.S715del(7)	soft_tissue(7)	soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1)	5118						c.(2143-2145)AGC>AGT		v-kit Hardy-Zuckerman 4 feline sarcoma viral	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						110.0	102.0	105.0					4																	55597497		2203	4300	6503	SO:0001819	synonymous_variant	3815	Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55597497C>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2145C>T	4.37:g.55597497C>T						KIT_uc010igs.2_Silent_p.S711S|KIT_uc010igt.1_Silent_p.C163C	p.S715S	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	15	2232	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		715			Protein kinase.|Cytoplasmic (Potential).		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	c.2145C>T	CCDS3496.1																																																																																				0.458	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
ARL9	132946	broad.mit.edu	37	4	57389924	57389924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:57389924G>A	ENST00000360096.2	+	4	568	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	149					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TCTGAAGTGGGAAATGACAGG	0.433																																						uc003hby.1																			0					0						c.(253-255)GGA>GAA		ADP-ribosylation factor-like 9							126.0	120.0	122.0					4																	57389924		1950	4152	6102	SO:0001583	missense	132946						GTP binding	g.chr4:57389924G>A	AY439003	CCDS59474.1	4q12	2014-05-09				ENSG00000196503		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23592	protein-coding gene	gene with protein product		612405					Standard	NM_206919		Approved		uc003hby.1	Q6T311		ENST00000360096.2:c.254G>A	4.37:g.57389924G>A	ENSP00000353210:p.Gly85Glu						p.G85E	NM_206919	NP_996802	Q6T311	ARL9_HUMAN			4	702	+	Glioma(25;0.08)|all_neural(26;0.101)		149						Missense_Mutation	SNP	ENST00000360096.2	37	c.254G>A	CCDS59474.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296172	0.81025	.	.	ENSG00000196503	ENST00000360096	.	.	.	5.32	5.32	0.75619	.	0.050686	0.85682	D	0.000000	T	0.73265	0.3565	L	0.47016	1.485	0.47949	D	0.999550	D	0.89917	1.0	D	0.91635	0.999	T	0.69844	-0.5035	8	0.31617	T	0.26	-20.6727	16.8642	0.86025	0.0:0.0:1.0:0.0	.	149	Q6T311	ARL9_HUMAN	E	149	.	ENSP00000353210:G149E	G	+	2	0	ARL9	57084681	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.659000	0.83766	2.639000	0.89480	0.557000	0.71058	GGA		0.433	ARL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467724.1	NM_206919	
UGT2B27P	54569	broad.mit.edu	37	4	69885591	69885591	+	IGR	SNP	C	C	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:69885591C>G								UGT2A3 (68082 upstream) : UGT2B7 (31602 downstream)																							GAAGCTGTGACTGTACACAAA	0.408																																						uc011cao.1																			0				skin(3)|ovary(2)	5						c.(397-399)AGT>ACT		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							152.0	109.0	122.0					4																	69885591		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885591C>G																													4.37:g.69885591C>G						UGT2B10_uc011can.1_Intron	p.S133T			P36537	UDB10_HUMAN			4	534	-			170						Missense_Mutation	SNP		37	c.398G>C																																																																																				0	0.408								
MUC7	4589	broad.mit.edu	37	4	71346617	71346617	+	Silent	SNP	A	A	G			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:71346617A>G	ENST00000304887.5	+	3	346	c.156A>G	c.(154-156)ctA>ctG	p.L52L	MUC7_ENST00000413702.1_Silent_p.L52L|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.L52L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	52					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTGGACTGCTAGCTCACCAGA	0.453																																						uc011cat.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(154-156)CTA>CTG		mucin 7, secreted precursor							176.0	173.0	174.0					4																	71346617		2203	4300	6503	SO:0001819	synonymous_variant	4589					extracellular region	protein binding	g.chr4:71346617A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.156A>G	4.37:g.71346617A>G						MUC7_uc011cau.1_Silent_p.L52L|MUC7_uc003hfj.2_Silent_p.L52L|uc011cav.1_RNA	p.L52L	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	444	+			52					Q9UCD7|Q9UCD8	Silent	SNP	ENST00000304887.5	37	c.156A>G	CCDS3541.1																																																																																				0.453	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
CARD6	84674	broad.mit.edu	37	5	40853218	40853218	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:40853218T>A	ENST00000254691.5	+	3	1983	c.1784T>A	c.(1783-1785)aTt>aAt	p.I595N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	595					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGCTCAAATTTTTCAGAGG	0.483																																						uc003jmg.2																			0				ovary(2)|skin(2)|lung(1)	5						c.(1783-1785)ATT>AAT		caspase recruitment domain family, member 6							117.0	118.0	118.0					5																	40853218		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40853218T>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1784T>A	5.37:g.40853218T>A	ENSP00000254691:p.Ile595Asn						p.I595N	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1859	+			595					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1784T>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	T	18.73	3.686618	0.68157	.	.	ENSG00000132357	ENST00000254691	T	0.13420	2.59	5.49	5.49	0.81192	.	0.437579	0.21007	N	0.081755	T	0.10895	0.0266	L	0.40543	1.245	0.80722	D	1	B	0.34372	0.451	B	0.30179	0.112	T	0.10800	-1.0614	10	0.36615	T	0.2	-6.1588	8.8455	0.35168	0.1667:0.0:0.0:0.8333	.	595	Q9BX69	CARD6_HUMAN	N	595	ENSP00000254691:I595N	ENSP00000254691:I595N	I	+	2	0	CARD6	40888975	0.220000	0.23631	1.000000	0.80357	0.949000	0.60115	0.384000	0.20668	2.311000	0.77944	0.533000	0.62120	ATT		0.483	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3		
ARHGEF28	64283	broad.mit.edu	37	5	73045681	73045681	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:73045681C>T	ENST00000426542.2	+	2	73	c.53C>T	c.(52-54)gCg>gTg	p.A18V	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A18V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A18V|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A18V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A18V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A18V			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	18					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										ATGATCTATGCGAAGTTTGAC	0.443																																						uc011csq.1																			0					0						c.(52-54)GCG>GTG		Rho-guanine nucleotide exchange factor							153.0	148.0	149.0					5																	73045681		1955	4169	6124	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73045681C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.53C>T	5.37:g.73045681C>T	ENSP00000412175:p.Ala18Val					RGNEF_uc003kcx.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc010izf.2_Missense_Mutation_p.A18V	p.A18V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	2	64	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	18					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.53C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665504	0.47677	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000509848;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.09350	3.24;3.23;3.23;2.99;3.23;3.23	4.9	4.9	0.64082	.	.	.	.	.	T	0.19167	0.0460	L	0.31804	0.96	0.30965	N	0.723172	D;D;D;D	0.89917	0.998;0.979;1.0;0.997	P;B;D;P	0.74348	0.773;0.304;0.983;0.886	T	0.02512	-1.1148	9	0.13108	T	0.6	.	14.2534	0.66035	0.0:0.85:0.15:0.0	.	18;18;18;18	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	V	18	ENSP00000296794:A18V;ENSP00000441913:A18V;ENSP00000441436:A18V;ENSP00000287898:A18V;ENSP00000411459:A18V;ENSP00000412175:A18V	ENSP00000287898:A18V	A	+	2	0	RP11-428C6.1	73081437	1.000000	0.71417	0.918000	0.36340	0.317000	0.28152	3.339000	0.52135	2.276000	0.75962	0.655000	0.94253	GCG		0.443	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
GABRA6	2559	broad.mit.edu	37	5	161119124	161119124	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:161119124C>T	ENST00000274545.5	+	8	1437	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.A325V			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	335					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ACACAGAAGGCCAAAAGGAAG	0.438										TCGA Ovarian(5;0.080)																												uc003lyu.2																			0				ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1003-1005)GCC>GTC		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						162.0	139.0	147.0					5																	161119124		2203	4300	6503	SO:0001583	missense	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161119124C>T		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1004C>T	5.37:g.161119124C>T	ENSP00000274545:p.Ala335Val	TCGA Ovarian(5;0.080)				GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	p.A335V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1342	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	335			Cytoplasmic (Probable).		A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1004C>T	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119678	0.37436	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	D;D	0.85556	-2.0;-2.0	5.04	3.24	0.37175	Neurotransmitter-gated ion-channel transmembrane domain (2);	4.873430	0.00839	N	0.001738	D	0.85796	0.5780	L	0.47016	1.485	0.38774	D	0.954618	B	0.20459	0.045	B	0.35353	0.201	T	0.61778	-0.6993	10	0.30854	T	0.27	.	11.6608	0.51345	0.0:0.8519:0.0:0.1481	.	335	Q16445	GBRA6_HUMAN	V	335;325	ENSP00000274545:A335V;ENSP00000430527:A325V	ENSP00000274545:A335V	A	+	2	0	GABRA6	161051702	1.000000	0.71417	0.989000	0.46669	0.678000	0.39670	3.593000	0.54001	1.111000	0.41721	0.557000	0.71058	GCC		0.438	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		
TLX3	30012	broad.mit.edu	37	5	170736674	170736674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:170736674C>T	ENST00000296921.5	+	1	387	c.305C>T	c.(304-306)cCg>cTg	p.P102L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	102					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGTGCCACCGCCTCTGCCA	0.701			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)	uc003mbf.2				Dom	yes		5	5q35.1	30012	T	"""T-cell leukemia, homeobox 3 (HOX11L2)"""			L	BCL11B		T-ALL		0				central_nervous_system(1)	1						c.(304-306)CCG>CTG		T-cell leukemia homeobox 3							8.0	10.0	9.0					5																	170736674		2122	4177	6299	SO:0001583	missense	30012					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:170736674C>T	AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.305C>T	5.37:g.170736674C>T	ENSP00000296921:p.Pro102Leu					uc003mbe.1_5'Flank	p.P102L	NM_021025	NP_066305	O43711	TLX3_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		1	387	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	102					Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	c.305C>T	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231888	0.39399	.	.	ENSG00000164438	ENST00000296921	D	0.91996	-2.95	4.4	4.4	0.53042	.	0.196730	0.43110	D	0.000607	D	0.87834	0.6277	M	0.61703	1.905	0.46749	D	0.999188	P	0.37525	0.598	B	0.29524	0.103	D	0.86403	0.1743	10	0.09084	T	0.74	.	15.9465	0.79799	0.0:1.0:0.0:0.0	.	102	O43711	TLX3_HUMAN	L	102	ENSP00000296921:P102L	ENSP00000296921:P102L	P	+	2	0	TLX3	170669279	0.501000	0.26099	1.000000	0.80357	0.804000	0.45430	0.952000	0.29149	2.293000	0.77203	0.555000	0.69702	CCG		0.701	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3		
DNAH11	8701	broad.mit.edu	37	7	21784532	21784532	+	Silent	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:21784532C>T	ENST00000409508.3	+	51	8392	c.8361C>T	c.(8359-8361)tgC>tgT	p.C2787C	DNAH11_ENST00000328843.6_Silent_p.C2794C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2794					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATTTATTGCCACTTTGCTG	0.448									Kartagener syndrome																													uc003svc.2																			0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(8380-8382)TGC>TGT		dynein, axonemal, heavy chain 11							82.0	76.0	78.0					7																	21784532		1982	4170	6152	SO:0001819	synonymous_variant	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21784532C>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8361C>T	7.37:g.21784532C>T							p.C2794C	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			52	8413	+			2794					Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.8382C>T																																																																																					0.448	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						uc011ksq.1																			0					0						c.(565-567)CTT>CTC		SubName: Full=Protease, serine, 3; Flags: Fragment;																																						154754							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|uc003wan.1_Intron	p.L189L	NR_001296						4	650	+									Silent	SNP	ENST00000603901.1	37	c.567T>C																																																																																					0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
OR6V1	346517	broad.mit.edu	37	7	142749846	142749846	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:142749846G>T	ENST00000418316.1	+	1	430	c.409G>T	c.(409-411)Gct>Tct	p.A137S		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GATGAGCCGGGCTATGTGTGT	0.597																																						uc011ksv.1																			0				ovary(1)	1						c.(409-411)GCT>TCT		olfactory receptor, family 6, subfamily V,							73.0	80.0	78.0					7																	142749846		2146	4271	6417	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749846G>T		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.409G>T	7.37:g.142749846G>T	ENSP00000396085:p.Ala137Ser						p.A137S	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	409	+	Melanoma(164;0.059)		137			Cytoplasmic (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.409G>T	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489623	0.26686	.	.	ENSG00000225781	ENST00000418316	T	0.01335	5.0	4.26	0.0996	0.14503	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00754	0.0025	N	0.03115	-0.41	0.09310	N	1	B	0.22414	0.069	B	0.23574	0.047	T	0.48790	-0.9004	9	0.59425	D	0.04	.	0.8418	0.01152	0.2832:0.1643:0.3846:0.168	.	137	Q8N148	OR6V1_HUMAN	S	137	ENSP00000396085:A137S	ENSP00000396085:A137S	A	+	1	0	OR6V1	142459968	0.000000	0.05858	0.978000	0.43139	0.959000	0.62525	-0.825000	0.04433	0.068000	0.16574	0.655000	0.94253	GCT		0.597	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1		
TEX15	56154	broad.mit.edu	37	8	30695499	30695499	+	Silent	SNP	C	C	T	rs369884354		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:30695499C>T	ENST00000256246.2	-	3	7226	c.7152G>A	c.(7150-7152)acG>acA	p.T2384T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2384					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCTTTTTTGGCGTTAAATGAT	0.388																																						uc003xil.2																			0				ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(7150-7152)ACG>ACA		testis expressed 15		C		0,4406		0,0,2203	169.0	169.0	169.0		7152	-1.0	0.0	8		169	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TEX15	NM_031271.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		2384/2790	30695499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56154							g.chr8:30695499C>T	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7152G>A	8.37:g.30695499C>T							p.T2384T	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7152	-			2384						Silent	SNP	ENST00000256246.2	37	c.7152G>A	CCDS6080.1																																																																																				0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
GPR124	25960	broad.mit.edu	37	8	37697018	37697018	+	Splice_Site	SNP	T	T	C			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:37697018T>C	ENST00000412232.2	+	16	2402	c.2389T>C	c.(2389-2391)Tcc>Ccc	p.S797P	GPR124_ENST00000315215.7_Splice_Site_p.S580P	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	797					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCCGGGCAGCTCCATCCGTGT	0.592																																						uc003xkj.2																			0				large_intestine(2)|ovary(2)|skin(1)	5						c.(2389-2391)TCC>CCC		G protein-coupled receptor 124 precursor							56.0	50.0	52.0					8																	37697018		2203	4300	6503	SO:0001630	splice_region_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37697018T>C	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2388-1T>C	8.37:g.37697018T>C						GPR124_uc010lvy.2_Missense_Mutation_p.S580P	p.S797P	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		16	2752	+			797			Cytoplasmic (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.2389T>C	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504897	0.64410	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.46819	0.86;0.86	4.73	4.73	0.59995	GPCR, family 2-like (1);	0.193539	0.45867	D	0.000333	T	0.50086	0.1595	L	0.43152	1.355	0.43435	D	0.995609	P;P	0.52692	0.955;0.949	P;P	0.54815	0.529;0.761	T	0.45877	-0.9231	10	0.38643	T	0.18	-27.7428	9.4894	0.38951	0.1988:0.0:0.0:0.8012	.	580;797	Q96PE1-2;Q96PE1	.;GP124_HUMAN	P	790;580;797	ENSP00000323508:S580P;ENSP00000406367:S797P	ENSP00000323508:S580P	S	+	1	0	GPR124	37816176	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.406000	0.44557	1.987000	0.57996	0.533000	0.62120	TCC		0.592	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2		Missense_Mutation
TBC1D2	55357	broad.mit.edu	37	9	101014108	101014108	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:101014108G>A	ENST00000375064.1	-	2	508	c.470C>T	c.(469-471)gCc>gTc	p.A157V	TBC1D2_ENST00000342112.5_Intron|TBC1D2_ENST00000375066.5_Missense_Mutation_p.A157V	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	157	Interaction with CADH1.				positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCCAGGGCGGCATCAGGGGT	0.637																																						uc011lvb.1																			0				ovary(3)	3						c.(469-471)GCC>GTC		TBC1 domain family, member 2							69.0	64.0	66.0					9																	101014108		2203	4300	6503	SO:0001583	missense	55357					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	g.chr9:101014108G>A	AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.470C>T	9.37:g.101014108G>A	ENSP00000364205:p.Ala157Val					TBC1D2_uc004ayq.2_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.A157V	p.A157V	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)	2	650	-		Myeloproliferative disorder(762;0.0255)	157			Interaction with CADH1.		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	ENST00000375064.1	37	c.470C>T		.	.	.	.	.	.	.	.	.	.	G	14.83	2.653973	0.47362	.	.	ENSG00000095383	ENST00000375064;ENST00000375066	T;T	0.08193	3.41;3.12	5.07	4.08	0.47627	.	0.765902	0.12026	N	0.506434	T	0.11153	0.0272	L	0.60455	1.87	0.19775	N	0.999955	B;B	0.30439	0.183;0.279	B;B	0.28139	0.039;0.086	T	0.08764	-1.0706	10	0.66056	D	0.02	.	11.4655	0.50237	0.0:0.0:0.8079:0.1921	.	157;157	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	V	157	ENSP00000364205:A157V;ENSP00000364207:A157V	ENSP00000364205:A157V	A	-	2	0	TBC1D2	100053929	0.005000	0.15991	0.004000	0.12327	0.295000	0.27426	0.905000	0.28504	2.365000	0.80145	0.305000	0.20034	GCC		0.637	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053366.1	NM_018421	
TTLL11	158135	broad.mit.edu	37	9	124751932	124751932	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124751932C>T	ENST00000373776.3	-	4	1268	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	TTLL11_ENST00000321582.5_Missense_Mutation_p.A361T|TTLL11_ENST00000474723.1_5'UTR	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	361	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGGGTCCCTGCCAGGCGGATG	0.517																																						uc004blt.1																			0					0						c.(1081-1083)GCA>ACA		tubulin tyrosine ligase-like family, member 11							91.0	96.0	95.0					9																	124751932		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751932C>T	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1081G>A	9.37:g.124751932C>T	ENSP00000362881:p.Ala361Thr					TTLL11_uc011lyl.1_Missense_Mutation_p.A361T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blu.1_3'UTR	p.A361T	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1269	-			361			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.1081G>A	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008204	0.35415	.	.	ENSG00000175764	ENST00000321582;ENST00000373776	T;T	0.05447	3.44;3.44	5.12	-3.63	0.04529	.	0.663319	0.14352	N	0.325025	T	0.02342	0.0072	N	0.11892	0.195	0.24548	N	0.994034	B;B	0.25809	0.012;0.135	B;B	0.22880	0.007;0.042	T	0.46721	-0.9171	10	0.08599	T	0.76	.	5.5755	0.17220	0.2106:0.3076:0.0:0.4819	.	361;361	F8W6M1;Q8NHH1	.;TTL11_HUMAN	T	361	ENSP00000321346:A361T;ENSP00000362881:A361T	ENSP00000321346:A361T	A	-	1	0	TTLL11	123791753	0.054000	0.20591	0.984000	0.44739	0.994000	0.84299	-0.408000	0.07169	-0.484000	0.06763	-0.300000	0.09419	GCA		0.517	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
TTLL11	158135	broad.mit.edu	37	9	124794081	124794081	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124794081T>A	ENST00000373776.3	-	3	1071	c.884A>T	c.(883-885)cAg>cTg	p.Q295L	TTLL11_ENST00000321582.5_Missense_Mutation_p.Q295L|TTLL11_ENST00000474723.1_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	295	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AAAGAGATTCTGCATGGTTCT	0.507																																						uc004blt.1																			0					0						c.(883-885)CAG>CTG		tubulin tyrosine ligase-like family, member 11							143.0	128.0	133.0					9																	124794081		2203	4300	6503	SO:0001583	missense	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124794081T>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.884A>T	9.37:g.124794081T>A	ENSP00000362881:p.Gln295Leu					TTLL11_uc011lyl.1_Missense_Mutation_p.Q295L|TTLL11_uc004blr.2_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blu.1_Intron	p.Q295L	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			3	1072	-			295			TTL.			Missense_Mutation	SNP	ENST00000373776.3	37	c.884A>T	CCDS6834.2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645033	0.67358	.	.	ENSG00000175764	ENST00000321582;ENST00000373778;ENST00000373776	T;T	0.05513	3.43;3.43	5.51	5.51	0.81932	.	0.145674	0.47093	D	0.000254	T	0.08714	0.0216	L	0.42632	1.34	0.58432	D	0.999999	P;B	0.43633	0.813;0.274	B;B	0.44224	0.444;0.27	T	0.37478	-0.9704	10	0.23891	T	0.37	.	13.2854	0.60241	0.0:0.0:0.0:1.0	.	295;295	F8W6M1;Q8NHH1	.;TTL11_HUMAN	L	295;18;295	ENSP00000321346:Q295L;ENSP00000362881:Q295L	ENSP00000321346:Q295L	Q	-	2	0	TTLL11	123833902	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.226000	0.72624	0.482000	0.46254	CAG		0.507	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486	
