#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
AADACL4	343066	broad.mit.edu	37	1	12726621	12726621	+	Missense_Mutation	SNP	G	G	A	rs374658772		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:12726621G>A	ENST00000376221.1	+	4	1099	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	367						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCCGCGTGACATGGTA	0.493																																						uc001auf.3																			0		p.R366P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(1099-1101)Gtg>Atg		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.		G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	88.0	90.0	89.0		1099	2.7	0.0	1		89	0,8600		0,0,4300	no	missense	AADACL4	NM_001013630.1	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	367/408	12726621	1,13005	2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726621G>A		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1099G>A	1.37:g.12726621G>A	ENSP00000365395:p.Val367Met						p.V367M	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	1099	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	367						Missense_Mutation	SNP	ENST00000376221.1	37	c.1099G>A	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814922	0.32053	2.27E-4	0.0	ENSG00000204518	ENST00000376221	T	0.18174	2.23	4.53	2.67	0.31697	Alpha/beta hydrolase fold-3 (1);	0.067238	0.64402	D	0.000018	T	0.55893	0.1949	H	0.98980	4.39	0.44149	D	0.996943	D	0.89917	1.0	D	0.80764	0.994	T	0.66240	-0.5973	10	0.72032	D	0.01	-35.3324	9.7469	0.40453	0.1679:0.0:0.8321:0.0	.	367	Q5VUY2	ADCL4_HUMAN	M	367	ENSP00000365395:V367M	ENSP00000365395:V367M	V	+	1	0	AADACL4	12649208	1.000000	0.71417	0.040000	0.18447	0.004000	0.04260	6.102000	0.71486	0.531000	0.28639	-0.136000	0.14681	GTG		0.493	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
CNKSR1	10256	broad.mit.edu	37	1	26507045	26507045	+	Missense_Mutation	SNP	C	C	T	rs201898585		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:26507045C>T	ENST00000374253.5	+	2	193	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000361530.6_Missense_Mutation_p.R52W|CNKSR1_ENST00000531191.1_5'UTR	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	52	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGTGCGGTCTCTGGG	0.622																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(154-156)Cgg>Tgg		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							58.0	63.0	61.0					1																	26507045		2203	4300	6503	SO:0001583	missense	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26507045C>T	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.154C>T	1.37:g.26507045C>T	ENSP00000363371:p.Arg52Trp					CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	p.R52W	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	1	212	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	52			SAM.		B1AMW9|O95381	Missense_Mutation	SNP	ENST00000374253.5	37	c.154C>T		.	.	.	.	.	.	.	.	.	.	C	9.409	1.080062	0.20309	.	.	ENSG00000142675	ENST00000361530;ENST00000422547;ENST00000374253	T;T	0.50813	0.73;0.73	5.0	1.14	0.20703	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.469271	0.23063	N	0.052349	T	0.20170	0.0485	N	0.04297	-0.235	0.38278	D	0.942334	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.03840	-1.0999	10	0.33940	T	0.23	-1.1412	4.7109	0.12872	0.1658:0.4351:0.0:0.3991	.	52;52	Q969H4;Q53GM7	CNKR1_HUMAN;.	W	52	ENSP00000354609:R52W;ENSP00000363371:R52W	ENSP00000354609:R52W	R	+	1	2	CNKSR1	26379632	0.004000	0.15560	0.996000	0.52242	0.324000	0.28378	-0.911000	0.04050	0.027000	0.15297	-0.302000	0.09304	CGG		0.622	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
CYP4B1	1580	broad.mit.edu	37	1	47264924	47264924	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:47264924T>C	ENST00000271153.4	+	1	207	c.171T>C	c.(169-171)caT>caC	p.H57H	CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371919.4_Silent_p.H57H|CYP4B1_ENST00000371923.4_Silent_p.H57H			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	57					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TTTTTGGACATGCCCTCGAGG	0.572																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(169-171)caT>caC		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							31.0	28.0	29.0					1																	47264924		2203	4300	6503	SO:0001819	synonymous_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47264924T>C	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.171T>C	1.37:g.47264924T>C						CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.H57H|CYP4B1_uc009vym.3_Silent_p.H57H|CYP4B1_uc010omk.2_5'UTR	p.H57H	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			0	255	+	Acute lymphoblastic leukemia(166;0.155)		57					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Silent	SNP	ENST00000271153.4	37	c.171T>C	CCDS542.1																																																																																				0.572	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
MROH7	374977	broad.mit.edu	37	1	55166995	55166995	+	Splice_Site	SNP	C	C	T	rs200991427		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:55166995C>T	ENST00000421030.2	+	19	3570	c.3285C>T	c.(3283-3285)gaC>gaT	p.D1095D	MROH7_ENST00000409996.1_Splice_Site_p.D663D|MROH7-TTC4_ENST00000414150.2_Splice_Site_p.D1095D|MROH7_ENST00000454855.2_Splice_Site_p.D613D	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	1095						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											ACTTCAGCGACGTGAGGACCT	0.592													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20612	0.0		0.0	False		,,,				2504	0.0					uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e19+1		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.		C		0,4158		0,0,2079	42.0	44.0	43.0		3285	-5.2	0.9	1		43	2,8420		0,2,4209	yes	coding-synonymous-near-splice	HEATR8	NM_001039464.2		0,2,6288	TT,TC,CC		0.0237,0.0,0.0159		1095/1324	55166995	2,12578	2079	4211	6290	SO:0001630	splice_region_variant	374977					integral to membrane	binding	g.chr1:55166995C>T	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.3285+1C>T	1.37:g.55166995C>T						HEATR8_uc001cxq.3_Splice_Site|HEATR8_uc010ood.1_Splice_Site_p.D613_splice|HEATR8_uc001cxs.2_Splice_Site|HEATR8_uc010oof.1_Splice_Site|HEATR8_uc001cxr.1_Splice_Site|HEATR8_uc009vzq.1_Splice_Site|HEATR8_uc001cxt.1_Splice_Site|HEATR8_uc009vzr.1_Splice_Site_p.D297_splice	p.D1095_splice	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			19	3609	+			1095					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Silent	SNP	ENST00000421030.2	37	c.3285_splice	CCDS41342.2																																																																																				0.592	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	Silent
EVI5	7813	broad.mit.edu	37	1	93159365	93159366	+	Frame_Shift_Ins	INS	-	-	T	rs200529227		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:93159365_93159366insT	ENST00000370331.1	-	9	1231_1232	c.1222_1223insA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000543509.1_Frame_Shift_Ins_p.M408fs|EVI5_ENST00000540033.1_Frame_Shift_Ins_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTACTTTTTCATTTTTTTTGAA	0.317																																						uc010otf.2																			0		p.K407T(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38						c.(1222-1224)atgfs		Homo sapiens ecotropic viral integration site 5 (EVI5), mRNA.																																				SO:0001589	frameshift_variant	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93159365_93159366insT	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1223dupA	1.37:g.93159373_93159373dupT	ENSP00000359356:p.Met408fs					EVI5_uc001dox.3_Frame_Shift_Ins_p.M408fs|EVI5_uc001doy.1_Non-coding_Transcript	p.M408fs	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	8	1232_1233	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	408			Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.		A6NKX8|B9A6J0|Q9H1Y9	Frame_Shift_Ins	INS	ENST00000370331.1	37	c.1222_1223insA	CCDS30774.1																																																																																				0.317	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665	
CD101	9398	broad.mit.edu	37	1	117552685	117552685	+	Missense_Mutation	SNP	C	C	T	rs529866838		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:117552685C>T	ENST00000256652.4	+	2	315	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CD101_ENST00000369470.1_Missense_Mutation_p.T86M	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	86	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGTATATACGCAGCGGGTG	0.532																																						uc010oxb.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(256-258)aCg>aTg		Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.							98.0	86.0	90.0					1																	117552685		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117552685C>T	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.257C>T	1.37:g.117552685C>T	ENSP00000256652:p.Thr86Met					CD101_uc009whd.3_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	p.T86M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			1	315	+			86			Ig-like C2-type 1.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.257C>T	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.726376	0.30593	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.67865	-0.29;-0.29	5.79	-1.39	0.08997	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.875330	0.10072	N	0.719524	T	0.41488	0.1161	L	0.44542	1.39	0.09310	N	1	D	0.63046	0.992	P	0.45946	0.498	T	0.31475	-0.9942	10	0.59425	D	0.04	-1.5512	7.4719	0.27353	0.1113:0.3949:0.4253:0.0685	.	86	Q93033	IGSF2_HUMAN	M	86	ENSP00000256652:T86M;ENSP00000358482:T86M	ENSP00000256652:T86M	T	+	2	0	CD101	117354208	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.426000	0.21363	0.067000	0.16545	-2.232000	0.00291	ACG		0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
ACP6	51205	broad.mit.edu	37	1	147119358	147119358	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:147119358G>A	ENST00000369238.6	-	10	1601	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	ACP6_ENST00000460583.1_5'UTR	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	385					dephosphorylation (GO:0016311)|lysobisphosphatidic acid metabolic process (GO:2001311)|phospholipid metabolic process (GO:0006644)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	acid phosphatase activity (GO:0003993)|lysophosphatidic acid phosphatase activity (GO:0052642)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCAACCTCTCGGCACCTGCTC	0.522																																						uc001epr.2																			0				breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16						c.(1153-1155)cCg>cTg		Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.							72.0	68.0	69.0					1																	147119358		2203	4300	6503	SO:0001583	missense	51205				lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding	g.chr1:147119358G>A	BC009965	CCDS928.1	1q21	2008-02-05			ENSG00000162836	ENSG00000162836			29609	protein-coding gene	gene with protein product		611471				12010880, 10506173	Standard	NM_016361		Approved	LPAP, ACPL1	uc001epr.2	Q9NPH0	OTTHUMG00000014019	ENST00000369238.6:c.1154C>T	1.37:g.147119358G>A	ENSP00000358241:p.Pro385Leu						p.P385L	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN			9	1618	-	all_hematologic(923;0.0276)		385					Q59G61|Q5T490|Q6IAQ3|Q7LG81|Q9UIG6	Missense_Mutation	SNP	ENST00000369238.6	37	c.1154C>T	CCDS928.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.520108	0.00967	.	.	ENSG00000162836	ENST00000369238	T	0.34472	1.36	4.6	3.66	0.41972	.	0.261548	0.36134	N	0.002773	T	0.11495	0.0280	L	0.45137	1.4	0.22819	N	0.998692	B	0.18863	0.031	B	0.09377	0.004	T	0.06716	-1.0811	10	0.25106	T	0.35	.	6.8767	0.24151	0.2493:0.0:0.7507:0.0	.	385	Q9NPH0	PPA6_HUMAN	L	385	ENSP00000358241:P385L	ENSP00000358241:P385L	P	-	2	0	ACP6	145585982	0.991000	0.36638	0.941000	0.38009	0.042000	0.13812	2.704000	0.47118	2.284000	0.76573	0.563000	0.77884	CCG		0.522	ACP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039420.2	NM_016361	
AQP10	89872	broad.mit.edu	37	1	154295505	154295505	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154295505C>T	ENST00000324978.3	+	3	320	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Missense_Mutation_p.R94C	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTTGGACGCCTCCCCTG	0.527																																						uc001feu.3																			0		p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(280-282)Cgc>Tgc		Homo sapiens aquaporin 10 (AQP10), mRNA.							142.0	132.0	136.0					1																	154295505		2203	4300	6503	SO:0001583	missense	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295505C>T	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.280C>T	1.37:g.154295505C>T	ENSP00000318355:p.Arg94Cys					ATP8B2_uc001few.3_5'Flank	p.R94C	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	320	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		94					Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	ENST00000324978.3	37	c.280C>T	CCDS1065.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862961	0.71949	.	.	ENSG00000143595	ENST00000324978;ENST00000484864	D;D	0.85773	-2.03;-2.03	5.04	4.12	0.48240	Aquaporin-like (2);	0.056466	0.64402	D	0.000002	D	0.87561	0.6208	M	0.71581	2.175	0.43390	D	0.9955	D;D	0.89917	1.0;0.999	D;P	0.66847	0.947;0.877	D	0.86768	0.1971	10	0.36615	T	0.2	.	12.7265	0.57174	0.0:0.9192:0.0:0.0808	.	94;94	Q96PS8-2;Q96PS8	.;AQP10_HUMAN	C	94	ENSP00000318355:R94C;ENSP00000420341:R94C	ENSP00000318355:R94C	R	+	1	0	AQP10	152562129	0.000000	0.05858	0.996000	0.52242	0.947000	0.59692	0.067000	0.14510	1.364000	0.46038	0.555000	0.69702	CGC		0.527	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429	
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						uc021pah.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2104-2109)cagctc>ctc		Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	p.Q702del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2419_2421	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2105_2107delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
CAMK1G	57172	broad.mit.edu	37	1	209773439	209773439	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:209773439G>A	ENST00000009105.1	+	3	449	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CAMK1G_ENST00000361322.2_Silent_p.E68E			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	68	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGAATGAGATTGCTGTGT	0.453																																					Ovarian(163;530 1939 9680 28669 48710)	uc001hhd.3																			0				breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20						c.(202-204)gaG>gaA		Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.							144.0	128.0	134.0					1																	209773439		2203	4300	6503	SO:0001819	synonymous_variant	57172					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr1:209773439G>A		CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.204G>A	1.37:g.209773439G>A						CAMK1G_uc001hhf.4_Silent_p.E68E|CAMK1G_uc001hhe.3_Silent_p.E68E	p.E68E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0475)	2	306	+			68			Protein kinase.		Q86UH5|Q9Y3J7	Silent	SNP	ENST00000009105.1	37	c.204G>A	CCDS1486.1																																																																																				0.453	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088526.1	NM_020439	
GJC2	57165	broad.mit.edu	37	1	228345795	228345795	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:228345795C>T	ENST00000366714.2	+	2	511	c.336C>T	c.(334-336)cgC>cgT	p.R112R		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	112					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				Agcggcgccgcgccctccgcc	0.766																																						uc021pkg.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						c.(334-336)cgC>cgT		Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.							9.0	8.0	8.0					1																	228345795		2140	4172	6312	SO:0001819	synonymous_variant	57165				cell death	connexon complex|integral to membrane		g.chr1:228345795C>T	AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.336C>T	1.37:g.228345795C>T						GJC2_uc001hsk.3_Silent_p.R112R	p.R112R	NM_020435	NP_065168	Q5T442	CXG2_HUMAN			0	336	+		Prostate(94;0.0405)	112					O43440|Q7Z7J2|Q8IWJ9	Silent	SNP	ENST00000366714.2	37	c.336C>T	CCDS1569.1																																																																																				0.766	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095985.1	NM_020435	
OR2L8	391190	broad.mit.edu	37	1	248112821	248112821	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:248112821T>C	ENST00000357191.3	+	1	662	c.662T>C	c.(661-663)cTc>cCc	p.L221P	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCAGGTTCTCTTTGCTGTC	0.463																																						uc001idt.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(661-663)cTc>cCc		Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.							174.0	111.0	132.0					1																	248112821		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112821T>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.662T>C	1.37:g.248112821T>C	ENSP00000349719:p.Leu221Pro					OR2L13_uc001ids.3_Intron	p.L221P	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		0	662	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		221					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.662T>C	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	7.010	0.556532	0.13436	.	.	ENSG00000196936	ENST00000357191	T	0.00249	8.44	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.329841	0.16921	U	0.194073	T	0.00580	0.0019	M	0.91196	3.185	0.09310	N	0.999999	D	0.89917	1.0	D	0.76575	0.988	T	0.38845	-0.9642	10	0.87932	D	0	.	5.7286	0.18026	0.0:0.0:0.2772:0.7228	.	221	Q8NGY9	OR2L8_HUMAN	P	221	ENSP00000349719:L221P	ENSP00000349719:L221P	L	+	2	0	OR2L8	246179444	0.005000	0.15991	0.161000	0.22692	0.157000	0.22087	1.583000	0.36579	0.837000	0.34925	0.397000	0.26171	CTC		0.463	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
CUBN	8029	broad.mit.edu	37	10	17083094	17083094	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:17083094T>C	ENST00000377833.4	-	27	4020	c.3955A>G	c.(3955-3957)Aac>Gac	p.N1319D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1319	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTGTAGTTCACAGTGTTG	0.383																																						uc001ioo.3																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3955-3957)Aac>Gac		Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						252.0	244.0	247.0					10																	17083094		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17083094T>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3955A>G	10.37:g.17083094T>C	ENSP00000367064:p.Asn1319Asp						p.N1319D	NM_001081	NP_001072	O60494	CUBN_HUMAN			26	4007	-			1319			CUB 8.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.3955A>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205550	0.79127	.	.	ENSG00000107611	ENST00000377833	T	0.17691	2.26	5.84	5.84	0.93424	CUB (5);	0.000000	0.51477	D	0.000099	T	0.39860	0.1094	M	0.76002	2.32	0.80722	D	1	D	0.59767	0.986	D	0.62955	0.909	T	0.11012	-1.0605	10	0.33141	T	0.24	.	15.8778	0.79180	0.0:0.0:0.0:1.0	.	1319	O60494	CUBN_HUMAN	D	1319	ENSP00000367064:N1319D	ENSP00000367064:N1319D	N	-	1	0	CUBN	17123100	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	6.875000	0.75551	2.235000	0.73313	0.459000	0.35465	AAC		0.383	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
A1CF	29974	broad.mit.edu	37	10	52587910	52587910	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:52587910T>A	ENST00000373993.1	-	5	794	c.750A>T	c.(748-750)gaA>gaT	p.E250D	A1CF_ENST00000395495.1_Intron|A1CF_ENST00000374001.2_Missense_Mutation_p.E250D|A1CF_ENST00000373997.3_Missense_Mutation_p.E250D|A1CF_ENST00000395489.2_Missense_Mutation_p.E243D|A1CF_ENST00000282641.2_Missense_Mutation_p.E250D|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000373995.3_Missense_Mutation_p.E258D			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	250	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTGTTGAATTCCTTTTCAA	0.353																																						uc001jjj.3																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						c.(748-750)gaA>gaT		Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.							127.0	124.0	125.0					10																	52587910		2203	4300	6503	SO:0001583	missense	29974				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	g.chr10:52587910T>A	AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.750A>T	10.37:g.52587910T>A	ENSP00000363105:p.Glu250Asp					A1CF_uc010qho.2_Missense_Mutation_p.E258D|A1CF_uc010qhn.2_Missense_Mutation_p.E258D|A1CF_uc009xov.3_Missense_Mutation_p.E250D|A1CF_uc001jji.3_Missense_Mutation_p.E250D|A1CF_uc001jjh.3_Missense_Mutation_p.E258D	p.E250D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN			6	938	-			250			RRM 3.		A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	ENST00000373993.1	37	c.750A>T	CCDS7242.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614506	0.66672	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000373995;ENST00000282641;ENST00000395488;ENST00000395489	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.48	4.35	0.52113	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	L	0.42529	1.33	0.54753	D	0.999984	P;D;D;P	0.67145	0.94;0.984;0.996;0.883	P;P;P;P	0.59056	0.583;0.845;0.851;0.606	T	0.02004	-1.1231	10	0.36615	T	0.2	.	9.239	0.37484	0.0:0.0852:0.0:0.9148	.	243;250;250;258	F8W9F8;Q9NQ94;Q9NQ94-2;Q9NQ94-4	.;A1CF_HUMAN;.;.	D	250;250;250;258;250;233;243	ENSP00000363113:E250D;ENSP00000363105:E250D;ENSP00000363109:E250D;ENSP00000363107:E258D;ENSP00000282641:E250D;ENSP00000378868:E243D	ENSP00000282641:E250D	E	-	3	2	A1CF	52257916	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.731000	0.55013	0.929000	0.37192	0.460000	0.39030	GAA		0.353	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048086.2	NM_014576	
PTEN	5728	broad.mit.edu	37	10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	rs121913292|rs121909224		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	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.3	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	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(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(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)	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	GRCh37	CM971273	PTEN	M	rs121909224	c.(388-390)Cga>Tga		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							141.0	131.0	134.0					10																	89692904		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;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)				PTEN_uc021pvw.1_Non-coding_Transcript	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)	4	1420	+		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 -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|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).	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	
OR51G1	79324	broad.mit.edu	37	11	4945014	4945014	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:4945014T>A	ENST00000321961.2	-	1	623	c.556A>T	c.(556-558)Atc>Ttc	p.I186F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTCATGATCTCCAGGTGA	0.522																																						uc010qyr.2																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25						c.(556-558)Atc>Ttc		Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.							92.0	81.0	85.0					11																	4945014		2201	4298	6499	SO:0001583	missense	79324				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4945014T>A	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.556A>T	11.37:g.4945014T>A	ENSP00000322546:p.Ile186Phe						p.I186F	NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	556	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	186					B9EGW8|Q6IFH6	Missense_Mutation	SNP	ENST00000321961.2	37	c.556A>T	CCDS31366.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.482779	0.44147	.	.	ENSG00000176879	ENST00000321961	T	0.00237	8.47	4.41	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.186057	0.26106	U	0.026320	T	0.00300	0.0009	M	0.68952	2.095	0.09310	N	1	P	0.46064	0.872	P	0.54590	0.756	T	0.41484	-0.9506	10	0.72032	D	0.01	.	3.9741	0.09467	0.0:0.2741:0.1819:0.5441	.	186	Q8NGK1	O51G1_HUMAN	F	186	ENSP00000322546:I186F	ENSP00000322546:I186F	I	-	1	0	OR51G1	4901590	0.000000	0.05858	0.998000	0.56505	0.702000	0.40608	-1.721000	0.01870	0.752000	0.32923	0.455000	0.32223	ATC		0.522	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
FADS3	3995	broad.mit.edu	37	11	61646097	61646097	+	Missense_Mutation	SNP	C	C	G	rs377115399		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:61646097C>G	ENST00000278829.2	-	5	786	c.634G>C	c.(634-636)Gcc>Ccc	p.A212P	FADS3_ENST00000527697.1_Missense_Mutation_p.A88P|FADS3_ENST00000525588.1_Missense_Mutation_p.A184P|FADS3_ENST00000540820.1_Missense_Mutation_p.A212P	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	212					unsaturated fatty acid biosynthetic process (GO:0006636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water (GO:0016717)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTGGGCGGAGAAGCCC	0.667																																						uc001nsm.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(634-636)Gcc>Ccc		Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.							95.0	87.0	89.0					11																	61646097		2202	4299	6501	SO:0001583	missense	3995				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	g.chr11:61646097C>G		CCDS8013.1	11q12-q13.1	2013-01-25			ENSG00000221968	ENSG00000221968	1.14.19.3	"""Fatty acid desaturases"""	3576	protein-coding gene	gene with protein product	"""delta-9-desaturase"""	606150		LLCDL3			Standard	NM_021727		Approved	CYB5RP	uc001nsm.3	Q9Y5Q0	OTTHUMG00000167500	ENST00000278829.2:c.634G>C	11.37:g.61646097C>G	ENSP00000278829:p.Ala212Pro						p.A212P	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN			4	787	-			212					O60426	Missense_Mutation	SNP	ENST00000278829.2	37	c.634G>C	CCDS8013.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536525	0.85812	.	.	ENSG00000221968	ENST00000527697;ENST00000278829;ENST00000540820;ENST00000525588;ENST00000531956;ENST00000534223	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	4.85	3.94	0.45596	Fatty acid desaturase, type 1 (1);	.	.	.	.	T	0.32164	0.0820	M	0.78916	2.43	0.58432	D	0.999995	B;B	0.31611	0.217;0.331	B;P	0.45377	0.38;0.478	T	0.06881	-1.0802	9	0.36615	T	0.2	-14.7777	12.179	0.54202	0.0:0.9155:0.0:0.0844	.	88;212	E9PKP8;Q9Y5Q0	.;FADS3_HUMAN	P	88;212;212;184;88;88	ENSP00000431533:A88P;ENSP00000278829:A212P;ENSP00000439308:A212P;ENSP00000432206:A184P;ENSP00000436890:A88P;ENSP00000434551:A88P	ENSP00000278829:A212P	A	-	1	0	FADS3	61402673	0.933000	0.31639	0.952000	0.39060	0.989000	0.77384	1.978000	0.40598	1.172000	0.42781	0.561000	0.74099	GCC		0.667	FADS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394836.1		
DNAJC4	3338	broad.mit.edu	37	11	64001432	64001432	+	Silent	SNP	C	C	T	rs138996784	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:64001432C>T	ENST00000321685.3	+	6	1059	c.594C>T	c.(592-594)aaC>aaT	p.N198N	RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000355040.4_3'UTR|VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000321460.5_Silent_p.N199N|VEGFB_ENST00000426086.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	198					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CCTTCTACAACGAAGCCCGGG	0.547																																						uc001nyt.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(595-597)aaC>aaT		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.							107.0	117.0	114.0					11																	64001432		1996	4154	6150	SO:0001819	synonymous_variant	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:64001432C>T	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.594C>T	11.37:g.64001432C>T						AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Silent_p.N198N|DNAJC4_uc001nyu.3_Silent_p.N198N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank	p.N199N			Q9NNZ3	DNJC4_HUMAN			4	1020	+			198					O14716	Silent	SNP	ENST00000321685.3	37	c.597C>T	CCDS41666.1	.	.	.	.	.	.	.	.	.	.	c	0.056	-1.236026	0.01505	.	.	ENSG00000110011	ENST00000535246	.	.	.	4.37	-8.73	0.00841	.	.	.	.	.	T	0.59390	0.2190	.	.	.	0.51767	D	0.999932	.	.	.	.	.	.	T	0.69503	-0.5128	4	.	.	.	-15.2394	13.7649	0.62988	0.1037:0.6996:0.0:0.1967	.	.	.	.	M	136	.	.	T	+	2	0	DNAJC4	63758008	0.000000	0.05858	0.013000	0.15412	0.006000	0.05464	-3.339000	0.00506	-3.027000	0.00267	-0.990000	0.02549	ACG		0.547	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1		
FAT3	120114	broad.mit.edu	37	11	92533806	92533806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:92533806C>T	ENST00000298047.6	+	9	7644	c.7627C>T	c.(7627-7629)Cga>Tga	p.R2543*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.R2543*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.R2393*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2543	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCAAGGATCGATTCCTCAT	0.488										TCGA Ovarian(4;0.039)																												uc001pdj.4																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7627-7629)Cga>Tga		Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.							47.0	48.0	47.0					11																	92533806		2059	4202	6261	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533806C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7627C>T	11.37:g.92533806C>T	ENSP00000298047:p.Arg2543*	TCGA Ovarian(4;0.039)					p.R2543*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			8	7644	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2543			Cadherin 23.		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.7627C>T		.	.	.	.	.	.	.	.	.	.	C	48	14.439365	0.99795	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	.	.	.	5.95	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3345	0.66578	0.3893:0.6107:0.0:0.0	.	.	.	.	X	2543;2543;2393	.	ENSP00000298047:R2543X	R	+	1	2	FAT3	92173454	0.498000	0.26075	0.989000	0.46669	0.922000	0.55478	0.379000	0.20585	0.844000	0.35094	-0.152000	0.13540	CGA		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
CNTN5	53942	broad.mit.edu	37	11	99690432	99690432	+	Silent	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:99690432G>T	ENST00000524871.1	+	4	503	c.213G>T	c.(211-213)ggG>ggT	p.G71G	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Silent_p.G71G|CNTN5_ENST00000279463.3_Silent_p.G71G|CNTN5_ENST00000528682.1_Silent_p.G71G	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	71					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433																																						uc001pga.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(211-213)ggG>ggT		Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.							74.0	74.0	74.0					11																	99690432		1909	4109	6018	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690432G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.213G>T	11.37:g.99690432G>T						CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	p.G71G	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	3	717	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	71					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.213G>T	CCDS53696.1																																																																																				0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361	
CLDN25	644672	broad.mit.edu	37	11	113650596	113650596	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:113650596A>G	ENST00000453129.2	+	1	128	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGTGTTACCACCATCCT	0.557																																						uc009yyw.1																			0				large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						c.(79-81)Acc>Gcc		Homo sapiens claudin 25 (CLDN25), mRNA.							87.0	95.0	92.0					11																	113650596		2144	4269	6413	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650596A>G		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.79A>G	11.37:g.113650596A>G	ENSP00000396304:p.Thr27Ala						p.T27A	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			0	79	+			27						Missense_Mutation	SNP	ENST00000453129.2	37	c.79A>G	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	A	16.65	3.181557	0.57800	.	.	ENSG00000228607	ENST00000453129	D	0.88354	-2.37	5.04	3.91	0.45181	.	.	.	.	.	D	0.86289	0.5897	L	0.42008	1.315	0.39255	D	0.964117	P	0.35174	0.488	B	0.42653	0.394	D	0.84046	0.0367	9	0.41790	T	0.15	.	9.7973	0.40742	0.9194:0.0:0.0806:0.0	.	27	C9JDP6	CLD25_HUMAN	A	27	ENSP00000396304:T27A	ENSP00000396304:T27A	T	+	1	0	CLDN25	113155806	1.000000	0.71417	0.264000	0.24511	0.732000	0.41865	3.165000	0.50778	0.948000	0.37687	0.533000	0.62120	ACC		0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
ACSM4	341392	broad.mit.edu	37	12	7476137	7476137	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7476137G>C	ENST00000399422.4	+	9	1337	c.1289G>C	c.(1288-1290)tGt>tCt	p.C430S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	430					acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty-acyl-CoA synthase activity (GO:0004321)|metal ion binding (GO:0046872)			endometrium(6)|kidney(1)|lung(14)	21						CGGCCCTTCTGTTTCTTCTCT	0.398																																						uc001qsx.1																			0				endometrium(6)|kidney(1)|lung(14)	21						c.(1288-1290)tGt>tCt		Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.							65.0	63.0	64.0					12																	7476137		1832	4084	5916	SO:0001583	missense	341392				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr12:7476137G>C		CCDS44825.1	12p13.31	2008-06-12			ENSG00000215009	ENSG00000215009		"""Acyl-CoA synthetase family"""	32016	protein-coding gene	gene with protein product	"""similar to olfactory specific medium-chain acyl CoA synthetase"""	614360				17762044	Standard	NM_001080454		Approved		uc001qsx.1	P0C7M7	OTTHUMG00000154975	ENST00000399422.4:c.1289G>C	12.37:g.7476137G>C	ENSP00000382349:p.Cys430Ser						p.C430S	NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN			8	1289	+			430					A8MTI6	Missense_Mutation	SNP	ENST00000399422.4	37	c.1289G>C	CCDS44825.1	.	.	.	.	.	.	.	.	.	.	G	7.309	0.614634	0.14129	.	.	ENSG00000215009	ENST00000399422	T	0.37584	1.19	3.6	1.71	0.24356	AMP-dependent synthetase/ligase (1);	0.000000	0.42821	U	0.000646	T	0.15219	0.0367	N	0.03948	-0.315	0.31367	N	0.680639	B	0.14805	0.011	B	0.21360	0.034	T	0.07578	-1.0765	10	0.54805	T	0.06	-6.5183	6.5801	0.22589	0.1079:0.1839:0.7081:0.0	.	430	P0C7M7	ACSM4_HUMAN	S	430	ENSP00000382349:C430S	ENSP00000382349:C430S	C	+	2	0	ACSM4	7367404	0.755000	0.28372	0.998000	0.56505	0.828000	0.46876	0.154000	0.16343	0.321000	0.23259	-0.310000	0.09108	TGT		0.398	ACSM4-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337866.2	NM_001080454	
CD163	9332	broad.mit.edu	37	12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7636017G>A	ENST00000359156.4	-	12	3236	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_ENST00000541972.1_Missense_Mutation_p.R1000C|CD163_ENST00000396620.3_Missense_Mutation_p.R1045C|CD163_ENST00000539632.1_5'UTR|CD163_ENST00000432237.2_Missense_Mutation_p.R1012C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1012	SRCR 9. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGGCCCCAGCGTCTGGCAGGA	0.512																																						uc001qsz.3																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(3034-3036)Cgc>Tgc		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.							118.0	102.0	108.0					12																	7636017		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7636017G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.3034C>T	12.37:g.7636017G>A	ENSP00000352071:p.Arg1012Cys					CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	p.R1012C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			11	3162	-			1012			SRCR 9.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.3034C>T	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	G	16.50	3.141415	0.57044	.	.	ENSG00000177575	ENST00000359156;ENST00000542280;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.4	0.998	0.19857	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.647597	0.15236	N	0.273152	T	0.47116	0.1428	L	0.61218	1.895	0.09310	N	1	D;D;D	0.65815	0.995;0.969;0.995	P;B;P	0.54706	0.759;0.436;0.759	T	0.33803	-0.9854	10	0.56958	D	0.05	.	4.9216	0.13872	0.0932:0.1331:0.5919:0.1818	.	1045;1012;1012	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	C	1012;52;1000;1045;1012	ENSP00000352071:R1012C;ENSP00000445438:R52C;ENSP00000444071:R1000C;ENSP00000379863:R1045C;ENSP00000403885:R1012C	ENSP00000352071:R1012C	R	-	1	0	CD163	7527284	0.000000	0.05858	0.003000	0.11579	0.973000	0.67179	-0.124000	0.10595	-0.047000	0.13423	0.555000	0.69702	CGC		0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
KIAA1467	57613	broad.mit.edu	37	12	13208635	13208635	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:13208635A>G	ENST00000197268.8	+	2	308	c.188A>G	c.(187-189)gAt>gGt	p.D63G		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	63						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCGACTCAGATGCTGAGGTT	0.562																																						uc001rbi.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(187-189)gAt>gGt		Homo sapiens KIAA1467 (KIAA1467), mRNA.							68.0	65.0	66.0					12																	13208635		2203	4300	6503	SO:0001583	missense	57613					integral to membrane		g.chr12:13208635A>G	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.188A>G	12.37:g.13208635A>G	ENSP00000197268:p.Asp63Gly						p.D63G	NM_020853	NP_065904	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	1	211	+		Prostate(47;0.184)	63					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Missense_Mutation	SNP	ENST00000197268.8	37	c.188A>G	CCDS31750.1	.	.	.	.	.	.	.	.	.	.	A	17.06	3.291536	0.59976	.	.	ENSG00000084444	ENST00000197268	T	0.22134	1.97	5.35	5.35	0.76521	.	0.410514	0.28908	N	0.013741	T	0.35711	0.0941	L	0.60455	1.87	0.45378	D	0.998365	D	0.57899	0.981	P	0.54100	0.742	T	0.09164	-1.0687	10	0.56958	D	0.05	-14.0992	15.3563	0.74428	1.0:0.0:0.0:0.0	.	63	A2RU67	K1467_HUMAN	G	63	ENSP00000197268:D63G	ENSP00000197268:D63G	D	+	2	0	KIAA1467	13099902	1.000000	0.71417	0.205000	0.23548	0.291000	0.27294	7.000000	0.76290	2.023000	0.59567	0.491000	0.48974	GAT		0.562	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	NM_020853	
PTPRB	5787	broad.mit.edu	37	12	70949924	70949924	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:70949924A>G	ENST00000261266.5	-	17	4094	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	PTPRB_ENST00000550857.1_Silent_p.P1265P|PTPRB_ENST00000451516.2_Silent_p.P1265P|PTPRB_ENST00000538708.1_Silent_p.P1265P|PTPRB_ENST00000550358.1_Silent_p.P1485P|PTPRB_ENST00000334414.6_Silent_p.P1573P	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1355	Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTATCTTGTCAGGCTCTAAAG	0.438																																						uc001swb.4																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4063-4065)ccT>ccC		Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.							34.0	31.0	32.0					12																	70949924		1826	4089	5915	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949924A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4065T>C	12.37:g.70949924A>G						PTPRB_uc010sto.2_Silent_p.P1265P|PTPRB_uc010stp.2_Silent_p.P1265P|PTPRB_uc001swc.4_Silent_p.P1573P|PTPRB_uc001swa.4_Silent_p.P1485P	p.P1355P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		16	4095	-	Renal(347;0.236)		1355			Fibronectin type-III 16.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.4065T>C	CCDS44944.1																																																																																				0.438	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
FSCB	84075	broad.mit.edu	37	14	44974610	44974610	+	Silent	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:44974610A>T	ENST00000340446.4	-	1	1872	c.1581T>A	c.(1579-1581)ctT>ctA	p.L527L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	527	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCTGCTAGAAGCTGAATTT	0.493																																						uc001wvn.3																			0				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89						c.(1579-1581)ctT>ctA		Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.							30.0	30.0	30.0					14																	44974610		2202	4300	6502	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44974610A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1581T>A	14.37:g.44974610A>T							p.L527L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	0	1890	-			527			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1581T>A	CCDS9679.1																																																																																				0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
SYT16	83851	broad.mit.edu	37	14	62536340	62536340	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:62536340C>T	ENST00000430451.2	+	2	740	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SYT16_ENST00000446982.2_Silent_p.D181D|RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	181					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGGGGATGACGAAGAGCTGT	0.483																																						uc001xfu.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(541-543)gaC>gaT		Homo sapiens synaptotagmin XVI (SYT16), mRNA.							151.0	140.0	143.0					14																	62536340		1955	4139	6094	SO:0001819	synonymous_variant	83851							g.chr14:62536340C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.543C>T	14.37:g.62536340C>T						SYT16_uc010tsd.1_Silent_p.D181D	p.D181D	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	1	740	+			181					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.543C>T	CCDS45121.1																																																																																				0.483	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
SERPINA5	5104	broad.mit.edu	37	14	95054156	95054156	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:95054156T>C	ENST00000554866.1	+	2	571	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	SERPINA5_ENST00000329597.7_Missense_Mutation_p.Y153H|SERPINA5_ENST00000554276.1_Missense_Mutation_p.Y153H|SERPINA5_ENST00000553780.1_Missense_Mutation_p.Y153H			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	153					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGACGCTGTACCTGGCAGA	0.537																																						uc001ydm.2																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(457-459)Tac>Cac		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						93.0	79.0	84.0					14																	95054156		2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95054156T>C	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.457T>C	14.37:g.95054156T>C	ENSP00000451126:p.Tyr153His					SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	p.Y153H	NM_000624	NP_000615	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	2	667	+			153					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.457T>C	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	T	19.65	3.867829	0.72065	.	.	ENSG00000188488	ENST00000554220;ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276;ENST00000557598	D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	3.74	3.74	0.42951	Serpin domain (3);	0.000000	0.56097	D	0.000038	D	0.94295	0.8167	M	0.92784	3.345	0.44181	D	0.996998	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95110	0.8237	10	0.87932	D	0	.	12.0875	0.53706	0.0:0.0:0.0:1.0	.	153;153	G3V5Q9;P05154	.;IPSP_HUMAN	H	153;153;153;153;153;153;5;77;153;153	ENSP00000450484:Y153H;ENSP00000450837:Y153H;ENSP00000452469:Y153H;ENSP00000451126:Y153H;ENSP00000333203:Y153H;ENSP00000450745:Y153H;ENSP00000451610:Y153H;ENSP00000450485:Y153H	ENSP00000333203:Y153H	Y	+	1	0	SERPINA5	94123909	1.000000	0.71417	0.994000	0.49952	0.030000	0.12068	7.258000	0.78371	1.706000	0.51276	0.459000	0.35465	TAC		0.537	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624	
WDR72	256764	broad.mit.edu	37	15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A	rs201559909	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:53994476G>A	ENST00000396328.1	-	12	1663	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_ENST00000559418.1_Missense_Mutation_p.S485L|WDR72_ENST00000360509.5_Missense_Mutation_p.S475L|WDR72_ENST00000557913.1_Missense_Mutation_p.S472L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13678	0.0		0.001	False		,,,				2504	0.0					uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1423-1425)tCg>tTg		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							125.0	120.0	122.0					15																	53994476		2194	4293	6487	SO:0001583	missense	256764							g.chr15:53994476G>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1424C>T	15.37:g.53994476G>A	ENSP00000379619:p.Ser475Leu					WDR72_uc010bfi.1_Missense_Mutation_p.S475L	p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	11	1466	-			475					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.1424C>T	CCDS10151.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.23	3.338029	0.60963	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01705	4.68;4.68	5.72	4.81	0.61882	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.311310	0.26887	N	0.021995	T	0.03434	0.0099	L	0.57536	1.79	0.35965	D	0.834865	D	0.55172	0.97	P	0.48738	0.588	T	0.44847	-0.9301	10	0.62326	D	0.03	.	5.1999	0.15258	0.1727:0.0:0.6611:0.1662	.	475	Q3MJ13	WDR72_HUMAN	L	475	ENSP00000379619:S475L;ENSP00000353699:S475L	ENSP00000353699:S475L	S	-	2	0	WDR72	51781768	0.910000	0.30920	1.000000	0.80357	0.932000	0.56968	3.347000	0.52200	1.429000	0.47314	0.655000	0.94253	TCG		0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
HERC1	8925	broad.mit.edu	37	15	63948072	63948072	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:63948072C>T	ENST00000443617.2	-	50	10040	c.9953G>A	c.(9952-9954)cGa>cAa	p.R3318Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3318					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAATTCCTCGGAGAAAGCT	0.448																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(9952-9954)cGa>cAa		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							52.0	48.0	49.0					15																	63948072		1843	4092	5935	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948072C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9953G>A	15.37:g.63948072C>T	ENSP00000390158:p.Arg3318Gln						p.R3318Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			49	10101	-			3318					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9953G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139045	0.94560	.	.	ENSG00000103657	ENST00000443617	T	0.23552	1.9	5.06	5.06	0.68205	.	0.000000	0.64402	D	0.000003	T	0.44912	0.1316	L	0.47716	1.5	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.15780	-1.0425	10	0.36615	T	0.2	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	3318	Q15751	HERC1_HUMAN	Q	3318	ENSP00000390158:R3318Q	ENSP00000390158:R3318Q	R	-	2	0	HERC1	61735125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.926000	0.70070	2.520000	0.84964	0.655000	0.94253	CGA		0.448	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
LOC645752	645752	broad.mit.edu	37	15	78211165	78211165	+	lincRNA	SNP	A	A	G	rs113224490	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:78211165A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							GTGGTTCTGGAAGAGCACGAG	0.597													-|||	196	0.0391374	0.1029	0.0187	5008	,	,		10777	0.001		0.0149	False		,,,				2504	0.0317					uc010bky.2																			0											c.(601-603)tTc>tCc		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78211165A>G																													15.37:g.78211165A>G							p.F201S							10	1366	-									Missense_Mutation	SNP	ENST00000565869.1	37	c.602T>C																																																																																					0.597	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
GOLGA6L3	100133220	broad.mit.edu	37	15	83015554	83015554	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:83015554A>G	ENST00000557886.1	-	3	359	c.260T>C	c.(259-261)cTg>cCg	p.L87P																	endometrium(6)|kidney(5)|prostate(1)	12						TCTTACCTCCAGATCCTGCAG	0.622																																						uc021ssz.1																			0				endometrium(1)|kidney(4)	5						c.(223-225)cTg>cCg		Homo sapiens golgin A6 family-like 10 (GOLGA6L10), mRNA.							8.0	12.0	11.0					15																	83015554		304	986	1290	SO:0001583	missense	647042							g.chr15:83015554A>G																												ENST00000557886.1:c.260T>C	15.37:g.83015554A>G	ENSP00000452844:p.Leu87Pro					LOC440295_uc002bhl.2_Intron|GOLGA6L9_uc021ssr.1_Intron|LOC440295_uc002bhm.2_Intron|GOLGA6L10_uc021sta.1_Non-coding_Transcript	p.L75P			A6NI86	GG6LA_HUMAN			2	360	-			87						Missense_Mutation	SNP	ENST00000557886.1	37	c.224T>C																																																																																					0.622	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1		
ACSM2B	348158	broad.mit.edu	37	16	20548638	20548638	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:20548638T>C	ENST00000329697.6	-	14	1844	c.1676A>G	c.(1675-1677)cAa>cGa	p.Q559R	ACSM2B_ENST00000567001.1_Missense_Mutation_p.Q559R|ACSM2B_ENST00000565232.1_Missense_Mutation_p.Q559R|ACSM2B_ENST00000565322.1_Missense_Mutation_p.Q480R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	559					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTGGTTCGTTGAATTTTCCC	0.483																																						uc002dhj.4																			0				breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						c.(1675-1677)cAa>cGa		Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							253.0	233.0	240.0					16																	20548638		2202	4300	6502	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548638T>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1676A>G	16.37:g.20548638T>C	ENSP00000327453:p.Gln559Arg					ACSM2B_uc002dhk.4_Missense_Mutation_p.Q559R	p.Q559R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			14	1886	-			559					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1676A>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.625782	0.00117	.	.	ENSG00000066813	ENST00000329697	T	0.49720	0.77	3.09	1.92	0.25849	.	1.015480	0.07922	N	0.976046	T	0.27241	0.0668	N	0.25890	0.77	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.29610	-1.0006	10	0.02654	T	1	-0.1171	3.4866	0.07622	0.0:0.2147:0.2061:0.5791	.	559	Q68CK6	ACS2B_HUMAN	R	559	ENSP00000327453:Q559R	ENSP00000327453:Q559R	Q	-	2	0	ACSM2B	20456139	0.001000	0.12720	0.001000	0.08648	0.073000	0.16967	1.046000	0.30354	0.350000	0.24002	0.496000	0.49642	CAA		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
IL21R	50615	broad.mit.edu	37	16	27441407	27441407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:27441407G>A	ENST00000337929.3	+	2	488	c.15G>A	c.(13-15)tgG>tgA	p.W5*	IL21R_ENST00000564089.1_Nonsense_Mutation_p.W5*|IL21R_ENST00000395754.4_Nonsense_Mutation_p.W5*|IL21R_ENST00000395755.1_Nonsense_Mutation_p.W5*	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	5					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCGTGGCTGGGCCGCCCCCT	0.716			T	BCL6	NHL																																	uc002dor.2				Dom	yes		16	16p11	50615	T	interleukin 21 receptor			L	BCL6		NHL		0				breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						c.(79-81)tgG>tgA		Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.							19.0	21.0	20.0					16																	27441407		2195	4295	6490	SO:0001587	stop_gained	50615				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	g.chr16:27441407G>A	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.15G>A	16.37:g.27441407G>A	ENSP00000338010:p.Trp5*					IL21R_uc002doq.2_Nonsense_Mutation_p.W5*|IL21R_uc002dos.2_Nonsense_Mutation_p.W5*	p.W27*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN			2	629	+			5					A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Nonsense_Mutation	SNP	ENST00000337929.3	37	c.81G>A	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	g	20.3	3.971887	0.74246	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	.	.	.	3.98	3.0	0.34707	.	0.937244	0.09010	N	0.861736	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5015	8.1302	0.31022	0.1113:0.0:0.8887:0.0	.	.	.	.	X	5	.	ENSP00000338010:W5X	W	+	3	0	IL21R	27348908	0.984000	0.35163	0.094000	0.20943	0.003000	0.03518	1.595000	0.36708	1.222000	0.43521	0.650000	0.86243	TGG		0.716	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
SCARF1	8578	broad.mit.edu	37	17	1551765	1551765	+	5'Flank	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:1551765G>T	ENST00000263071.4	-	0	0				RILP_ENST00000301336.6_Missense_Mutation_p.R234S|SCARF1_ENST00000348987.3_5'Flank|SCARF1_ENST00000571272.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGAGGGGCGCCCGAGCTGC	0.637																																						uc002ftd.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15						c.(700-702)Cgc>Agc		Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.							32.0	32.0	32.0					17																	1551765		2203	4300	6503	SO:0001631	upstream_gene_variant	83547				endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding	g.chr17:1551765G>T	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551765G>T	Exception_encountered					SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	p.R234S	NM_031430	NP_113618	Q96NA2	RILP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	4	994	-			234					A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	ENST00000263071.4	37	c.700C>A	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	g	8.721	0.914373	0.17907	.	.	ENSG00000167705	ENST00000301336	T	0.30182	1.54	5.71	-7.19	0.01500	.	1.385250	0.04145	N	0.320268	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.23440	-1.0188	10	0.10377	T	0.69	-3.9392	0.0688	0.00020	0.3237:0.1892:0.1864:0.3007	.	234	Q96NA2	RILP_HUMAN	S	234	ENSP00000301336:R234S	ENSP00000301336:R234S	R	-	1	0	RILP	1498515	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.376000	0.20535	-1.137000	0.02888	-3.852000	0.00018	CGC		0.637	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693	
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7577097C>G	ENST00000269305.4	-	8	1030	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_ENST00000359597.4_Missense_Mutation_p.D281H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D281H|TP53_ENST00000445888.2_Missense_Mutation_p.D281H|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.D281H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726}.|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D281N(25)|p.D281H(19)|p.D281Y(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGCGCCGGTCTCTCCCAGGA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		86	Substitution - Missense(61)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(2)|Complex - insertion inframe(2)	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(1)	lung(14)|breast(13)|upper_aerodigestive_tract(8)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(8)|large_intestine(6)|ovary(5)|bone(5)|liver(5)|stomach(4)|central_nervous_system(3)|kidney(2)|skin(2)|biliary_tract(1)|endometrium(1)|oesophagus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076566	TP53	M		c.(841-843)Gac>Cac	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							80.0	69.0	73.0					17																	7577097		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577097C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.841G>C	17.37:g.7577097C>G	ENSP00000269305:p.Asp281His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.D281H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	1035	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	281		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.841G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824180	0.90955	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99873	-7.38;-7.38;-7.38;-7.38;-7.38;-7.38	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99885	0.9945	M	0.92649	3.33	0.80722	D	1	P;D;D;P	0.89917	0.954;1.0;0.963;0.684	P;D;P;P	0.97110	0.771;1.0;0.769;0.773	D	0.96400	0.9296	10	0.87932	D	0	-25.6697	16.1198	0.81342	0.0:1.0:0.0:0.0	.	281;281;281;281	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	281;281;281;281;281;270;149	ENSP00000352610:D281H;ENSP00000269305:D281H;ENSP00000398846:D281H;ENSP00000391127:D281H;ENSP00000391478:D281H;ENSP00000425104:D149H	ENSP00000269305:D281H	D	-	1	0	TP53	7517822	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAC		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KDM6B	23135	broad.mit.edu	37	17	7752755	7752755	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7752755C>T	ENST00000448097.2	+	11	3480	c.3149C>T	c.(3148-3150)cCa>cTa	p.P1050L	KDM6B_ENST00000254846.5_Missense_Mutation_p.P1050L			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1050	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACAGCTCCAGCCCCTCCA	0.677																																						uc002gix.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(1054-1056)cCa>cTa		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.							15.0	14.0	15.0					17																	7752755		2170	4268	6438	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752755C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3149C>T	17.37:g.7752755C>T	ENSP00000412513:p.Pro1050Leu					KDM6B_uc002giw.1_Missense_Mutation_p.P1050L	p.P352L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN			0	1892	+			1050			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.1055C>T		.	.	.	.	.	.	.	.	.	.	C	7.474	0.647321	0.14516	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.33438	1.41;1.42	4.11	2.04	0.26737	.	0.679507	0.12906	N	0.429321	T	0.13970	0.0338	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.0;0.003	T	0.33854	-0.9852	10	0.07030	T	0.85	-0.8656	6.8437	0.23977	0.0:0.7215:0.1785:0.1001	.	1050;1050	O15054;O15054-1	KDM6B_HUMAN;.	L	1050	ENSP00000254846:P1050L;ENSP00000412513:P1050L	ENSP00000254846:P1050L	P	+	2	0	KDM6B	7693480	0.000000	0.05858	0.160000	0.22671	0.910000	0.53928	0.411000	0.21115	0.483000	0.27608	0.462000	0.41574	CCA		0.677	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272	
GRB7	2886	broad.mit.edu	37	17	37902194	37902194	+	Missense_Mutation	SNP	C	C	A	rs373282915		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:37902194C>A	ENST00000309156.4	+	13	1556	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	GRB7_ENST00000309185.3_Intron|GRB7_ENST00000445327.2_Missense_Mutation_p.H456Q|GRB7_ENST00000394209.2_Missense_Mutation_p.H433Q|GRB7_ENST00000394211.3_Missense_Mutation_p.H433Q|GRB7_ENST00000394204.1_Intron	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	433	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|leukocyte migration (GO:0050900)|negative regulation of translation (GO:0017148)|positive regulation of cell migration (GO:0030335)|positive regulation of signal transduction (GO:0009967)|stress granule assembly (GO:0034063)	cell projection (GO:0042995)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTGGTTCCACGGGCGCATTT	0.617																																						uc002hsr.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1297-1299)caC>caA		Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.							104.0	108.0	107.0					17																	37902194		2203	4300	6503	SO:0001583	missense	2886				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	g.chr17:37902194C>A	D43772	CCDS11345.1, CCDS56028.1	17q12	2013-02-14			ENSG00000141738	ENSG00000141738		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4567	protein-coding gene	gene with protein product		601522					Standard	NM_005310		Approved		uc021twu.1	Q14451	OTTHUMG00000133253	ENST00000309156.4:c.1299C>A	17.37:g.37902194C>A	ENSP00000310771:p.His433Gln					GRB7_uc002hss.3_Missense_Mutation_p.H433Q|GRB7_uc021twu.1_Missense_Mutation_p.H456Q|GRB7_uc010cwc.3_Missense_Mutation_p.H433Q|GRB7_uc002hst.3_Intron	p.H433Q	NM_005310	NP_005301	Q14451	GRB7_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		12	1574	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		433			SH2.		B2RAV1|B3KNL0|B3KWP9|B7WP75|J3KQM4|Q53YD3|Q92568|Q96DF9|Q9Y220	Missense_Mutation	SNP	ENST00000309156.4	37	c.1299C>A	CCDS11345.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495509	0.44352	.	.	ENSG00000141738	ENST00000309156;ENST00000394211;ENST00000394209;ENST00000445327	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.21	-4.05	0.03998	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.68421	0.2999	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72520	-0.4268	10	0.87932	D	0	-17.9623	12.9967	0.58650	0.0:0.5169:0.0:0.4831	.	433	Q14451	GRB7_HUMAN	Q	433;433;433;456	ENSP00000310771:H433Q;ENSP00000377761:H433Q;ENSP00000377759:H433Q;ENSP00000403459:H456Q	ENSP00000310771:H433Q	H	+	3	2	GRB7	35155720	0.000000	0.05858	0.958000	0.39756	0.080000	0.17528	-1.912000	0.01582	-0.948000	0.03668	-0.768000	0.03414	CAC		0.617	GRB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257024.2	NM_005310	
GSDMA	284110	broad.mit.edu	37	17	38133285	38133285	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:38133285C>T	ENST00000301659.4	+	12	1430	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	438					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTCTCTCTCCTTCAGCAGCT	0.557																																						uc002htl.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(1312-1314)Ctt>Ttt		Homo sapiens gasdermin A (GSDMA), mRNA.							106.0	106.0	106.0					17																	38133285		1969	4164	6133	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38133285C>T	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1312C>T	17.37:g.38133285C>T	ENSP00000301659:p.Leu438Phe					GSDMA_uc002htm.1_Missense_Mutation_p.L438F	p.L438F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN			11	1430	+			438					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.1312C>T	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.170475	0.38315	.	.	ENSG00000167914	ENST00000301659	T	0.59224	0.28	5.85	2.69	0.31865	.	0.000000	0.53938	D	0.000051	T	0.49236	0.1545	M	0.64997	1.995	0.35551	D	0.803893	B	0.14805	0.011	B	0.12837	0.008	T	0.54214	-0.8327	10	0.52906	T	0.07	-3.8211	5.5671	0.17177	0.1573:0.6764:0.0:0.1663	.	438	Q96QA5	GSDMA_HUMAN	F	438	ENSP00000301659:L438F	ENSP00000301659:L438F	L	+	1	0	GSDMA	35386811	0.961000	0.32948	1.000000	0.80357	0.784000	0.44337	0.629000	0.24538	0.815000	0.34398	0.561000	0.74099	CTT		0.557	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171	
KRTAP4-9	100132386	broad.mit.edu	37	17	39262218	39262218	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:39262218C>A	ENST00000391415.1	+	1	635	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	193					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TATCGCCCAACCTGTGTCATC	0.647																																						uc010wfp.2																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(577-579)aCc>aAc		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							53.0	61.0	58.0					17																	39262218		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39262218C>A	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.578C>A	17.37:g.39262218C>A	ENSP00000375234:p.Thr193Asn						p.T193N	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	578	+			193						Missense_Mutation	SNP	ENST00000391415.1	37	c.578C>A	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	3.270	-0.149222	0.06585	.	.	ENSG00000212722	ENST00000377734;ENST00000391415;ENST00000333994	T	0.00614	6.21	2.08	1.1	0.20463	.	0.229512	0.21514	U	0.073338	T	0.00967	0.0032	M	0.72894	2.215	0.26443	N	0.975734	B	0.34349	0.45	B	0.37239	0.244	T	0.40869	-0.9540	10	0.59425	D	0.04	.	4.4508	0.11619	0.0:0.6647:0.0:0.3353	.	193	Q9BYQ8	KRA49_HUMAN	N	181;193;184	ENSP00000375234:T193N	ENSP00000334461:T184N	T	+	2	0	KRTAP4-9	36515744	0.028000	0.19301	1.000000	0.80357	0.117000	0.20001	-1.113000	0.03296	0.455000	0.26910	-1.111000	0.02071	ACC		0.647	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
MPO	4353	broad.mit.edu	37	17	56355275	56355275	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:56355275C>T	ENST00000225275.3	-	7	1293	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000340482.3_Missense_Mutation_p.G405S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	373					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGGGCCCGGCCGTTGTCTTGG	0.652																																						uc002ivu.1																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1117-1119)Ggc>Agc		Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	Cefdinir(DB00535)						62.0	62.0	62.0					17																	56355275		2203	4300	6503	SO:0001583	missense	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56355275C>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1117G>A	17.37:g.56355275C>T	ENSP00000225275:p.Gly373Ser						p.G373S	NM_000250	NP_000241	P05164	PERM_HUMAN			6	1294	-			373					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	c.1117G>A	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112548	0.77210	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.75704	-0.96;-0.96	5.32	4.35	0.52113	.	0.154636	0.56097	D	0.000025	D	0.87597	0.6217	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89435	0.3719	10	0.66056	D	0.02	-34.2314	12.7969	0.57564	0.0:0.9214:0.0:0.0786	.	373	P05164	PERM_HUMAN	S	405;373	ENSP00000344419:G405S;ENSP00000225275:G373S	ENSP00000225275:G373S	G	-	1	0	MPO	53710274	1.000000	0.71417	0.918000	0.36340	0.561000	0.35649	5.895000	0.69814	1.260000	0.44134	0.561000	0.74099	GGC		0.652	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
PGS1	9489	broad.mit.edu	37	17	76420030	76420030	+	Intron	SNP	G	G	A	rs143246806	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:76420030G>A	ENST00000262764.6	+	10	1707				PGS1_ENST00000588281.1_Intron|AC061992.1_ENST00000600087.1_5'Flank|DNAH17_ENST00000585328.1_Missense_Mutation_p.A4444V|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A4472V|PGS1_ENST00000329897.7_Intron	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GATCCACTTCGCTGCCTTCTC	0.567																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(13345-13347)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.							132.0	128.0	130.0					17																	76420030		2203	4300	6503	SO:0001627	intron_variant	8632							g.chr17:76420030G>A		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1669-112G>A	17.37:g.76420030G>A						PGS1_uc002jvm.3_Intron|PGS1_uc010wtt.2_Intron|PGS1_uc010dho.3_Intron|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Intron|DNAH17_uc002jvq.3_Missense_Mutation_p.A734V|DNAH17_uc002jvs.3_Non-coding_Transcript	p.A4449V	NM_173628	NP_775899			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		80	13471	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.13346C>T	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.864011	0.91511	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.08720	3.06	5.23	5.23	0.72850	.	0.107759	0.41194	D	0.000933	T	0.22166	0.0534	M	0.83953	2.67	0.48696	D	0.999695	P	0.46578	0.88	P	0.46659	0.523	T	0.01800	-1.1271	10	0.59425	D	0.04	.	19.0107	0.92871	0.0:0.0:1.0:0.0	.	4444	E7EUM8	.	V	4444;4472	ENSP00000374490:A4472V	ENSP00000300671:A4444V	A	-	2	0	DNAH17	73931625	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	9.050000	0.93843	2.713000	0.92767	0.655000	0.94253	GCG		0.567	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419	
TCF4	6925	broad.mit.edu	37	18	52921829	52921829	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:52921829C>T	ENST00000356073.4	-	15	1860	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	TCF4_ENST00000570177.2_Missense_Mutation_p.D287N|TCF4_ENST00000354452.3_Missense_Mutation_p.D417N|TCF4_ENST00000568673.1_Missense_Mutation_p.D393N|TCF4_ENST00000543082.1_Missense_Mutation_p.D375N|TCF4_ENST00000566279.1_Missense_Mutation_p.D357N|TCF4_ENST00000561992.1_Missense_Mutation_p.D287N|TCF4_ENST00000544241.2_Missense_Mutation_p.D346N|TCF4_ENST00000566286.1_Missense_Mutation_p.D414N|TCF4_ENST00000564999.1_Missense_Mutation_p.D417N|TCF4_ENST00000565018.2_Missense_Mutation_p.D417N|TCF4_ENST00000537856.3_Missense_Mutation_p.D287N|TCF4_ENST00000564228.1_Missense_Mutation_p.D346N|TCF4_ENST00000540999.1_Missense_Mutation_p.D393N|TCF4_ENST00000537578.1_Missense_Mutation_p.D393N|TCF4_ENST00000457482.3_Missense_Mutation_p.D257N|TCF4_ENST00000568740.1_Missense_Mutation_p.D392N|TCF4_ENST00000564403.2_Missense_Mutation_p.D423N|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000561831.3_Missense_Mutation_p.D257N|TCF4_ENST00000570287.2_Missense_Mutation_p.D257N|TCF4_ENST00000398339.1_Missense_Mutation_p.D519N|TCF4_ENST00000567880.1_Missense_Mutation_p.D357N	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	417					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGCATGTCCCCATGACCA	0.502																																						uc002lga.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1555-1557)Gac>Aac		Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.							121.0	109.0	113.0					18																	52921829		2203	4300	6503	SO:0001583	missense	6925				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding	g.chr18:52921829C>T	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1249G>A	18.37:g.52921829C>T	ENSP00000348374:p.Asp417Asn					TCF4_uc021ukg.1_Missense_Mutation_p.D257N|TCF4_uc021ukh.1_Missense_Mutation_p.D257N|TCF4_uc002lfw.4_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc021uki.1_Missense_Mutation_p.D346N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc021ukj.1_Missense_Mutation_p.D357N|TCF4_uc021ukk.1_Missense_Mutation_p.D357N|TCF4_uc021ukl.1_Missense_Mutation_p.D414N|TCF4_uc002lfz.2_Missense_Mutation_p.D417N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010dpi.3_Missense_Mutation_p.D423N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N	p.D519N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN		Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)	15	1615	-			417					B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	37	c.1555G>A	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539590	0.96474	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.62	5.62	0.85841	.	0.046947	0.85682	D	0.000000	T	0.73071	0.3540	M	0.80508	2.5	0.80722	D	1	P;D;D;P;P;P;P;P;P	0.58620	0.693;0.983;0.983;0.944;0.905;0.941;0.941;0.554;0.675	P;P;P;P;B;P;P;B;B	0.61800	0.58;0.894;0.691;0.818;0.403;0.69;0.786;0.279;0.311	T	0.76564	-0.2913	10	0.87932	D	0	-17.9081	18.4277	0.90614	0.0:1.0:0.0:0.0	.	393;417;257;519;417;375;346;257;414	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	N	417;257;417;375;393;393;346;287;519	ENSP00000346440:D417N;ENSP00000409447:D257N;ENSP00000348374:D417N;ENSP00000439656:D375N;ENSP00000445202:D393N;ENSP00000440731:D393N;ENSP00000441562:D346N;ENSP00000439827:D287N;ENSP00000381382:D519N	ENSP00000346440:D417N	D	-	1	0	TCF4	51072827	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.818000	0.86416	2.653000	0.90120	0.585000	0.79938	GAC		0.502	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
SOCS6	9306	broad.mit.edu	37	18	67992070	67992070	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:67992070A>G	ENST00000397942.3	+	2	482	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	SOCS6_ENST00000582322.1_Missense_Mutation_p.I56V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	56					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CAGCTGCGATATCAACGGTGA	0.428																																					Melanoma(84;1024 1361 24382 36583 42651)	uc002lkr.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(166-168)Atc>Gtc		Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.							95.0	95.0	95.0					18																	67992070		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992070A>G	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.166A>G	18.37:g.67992070A>G	ENSP00000381034:p.Ile56Val					SOCS6_uc010dqq.2_Missense_Mutation_p.I56V|SOCS6_uc021ulj.1_Missense_Mutation_p.I56V	p.I56V	NM_004232	NP_004223	O14544	SOCS6_HUMAN			1	482	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	56					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.166A>G	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032623	0.19590	.	.	ENSG00000170677	ENST00000397942	T	0.24908	1.83	5.4	-3.08	0.05347	.	0.494865	0.19031	N	0.124543	T	0.12433	0.0302	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14924	-1.0455	10	0.35671	T	0.21	-5.5596	7.8139	0.29247	0.3505:0.4593:0.1902:0.0	.	56	O14544	SOCS6_HUMAN	V	56	ENSP00000381034:I56V	ENSP00000381034:I56V	I	+	1	0	SOCS6	66143050	0.000000	0.05858	0.000000	0.03702	0.776000	0.43924	-0.327000	0.07955	-0.545000	0.06224	0.459000	0.35465	ATC		0.428	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2		
HMHA1	23526	broad.mit.edu	37	19	1083208	1083208	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:1083208G>A	ENST00000313093.2	+	21	3042	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	HMHA1_ENST00000543365.1_Silent_p.T820T|HMHA1_ENST00000591169.1_Intron|HMHA1_ENST00000536472.1_Silent_p.T805T|HMHA1_ENST00000590577.1_Silent_p.T572T|HMHA1_ENST00000539243.2_Silent_p.T953T|HMHA1_ENST00000586866.1_Silent_p.T941T|HMHA1_ENST00000590214.1_Silent_p.T964T	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	937	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGCCCACGCTGCTTCGGC	0.672																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(2809-2811)acG>acA		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							45.0	37.0	40.0					19																	1083208		2201	4300	6501	SO:0001819	synonymous_variant	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1083208G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.2811G>A	19.37:g.1083208G>A						HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T	p.T937T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	20	3042	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	937			Rho-GAP.		B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Silent	SNP	ENST00000313093.2	37	c.2811G>A	CCDS32863.1																																																																																				0.672	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		
FARSA	2193	broad.mit.edu	37	19	13035595	13035595	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:13035595G>A	ENST00000314606.4	-	10	1071	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	FARSA_ENST00000588025.1_Silent_p.F391F|FARSA_ENST00000423140.2_Silent_p.F320F	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	351					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGTCGATGGAGAAGTACTTGA	0.612																																						uc002mvs.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20						c.(1051-1053)ttC>ttT		Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	L-Phenylalanine(DB00120)						90.0	91.0	91.0					19																	13035595		2203	4300	6503	SO:0001819	synonymous_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13035595G>A	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1053C>T	19.37:g.13035595G>A						FARSA_uc010xmv.1_Silent_p.F320F	p.F351F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			9	1101	-			351					B4E363|Q9NSD8|Q9Y4W8	Silent	SNP	ENST00000314606.4	37	c.1053C>T	CCDS12287.1																																																																																				0.612	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)	p.D404E(20)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
TRAPPC12	51112	broad.mit.edu	37	2	3482694	3482694	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:3482694G>T	ENST00000324266.5	+	11	2150	c.1955G>T	c.(1954-1956)aGa>aTa	p.R652I	TRAPPC12-AS1_ENST00000453806.1_RNA|TRAPPC12_ENST00000382110.2_Missense_Mutation_p.R652I	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	652					vesicle-mediated transport (GO:0016192)												ATGGATCCAAGAAACGCAGTG	0.532																																						uc002qxm.1																			0											c.(1954-1956)aGa>aTa		Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.							80.0	85.0	83.0					2																	3482694		2203	4300	6503	SO:0001583	missense	51112						binding	g.chr2:3482694G>T	BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1955G>T	2.37:g.3482694G>T	ENSP00000324318:p.Arg652Ile					TRAPPC12_uc002qxn.1_Missense_Mutation_p.R652I|TRAPPC12_uc010ewm.1_Missense_Mutation_p.R658I	p.R652I	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN			10	2161	+			652					B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	ENST00000324266.5	37	c.1955G>T	CCDS1652.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.027|0.027	-1.361027|-1.361027	0.01245|0.01245	.|.	.|.	ENSG00000171853|ENSG00000171853	ENST00000416918;ENST00000452495|ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	.|T;T;T	.|0.59638	.|0.25;0.25;0.25	5.92|5.92	4.1|4.1	0.47936|0.47936	.|.	.|0.424132	.|0.29355	.|N	.|0.012382	T|T	0.40979|0.40979	0.1139|0.1139	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B	.|0.17667	.|0.023;0.005	.|B;B	.|0.22152	.|0.038;0.003	T|T	0.25363|0.25363	-1.0134|-1.0134	5|10	.|0.44086	.|T	.|0.13	.|.	16.7467|16.7467	0.85474|0.85474	0.0:0.636:0.364:0.0|0.0:0.636:0.364:0.0	.|.	.|641;652	.|E7ENL7;Q8WVT3	.|.;TPC12_HUMAN	N|I	38;53|652;641;652;151	.|ENSP00000371544:R652I;ENSP00000324318:R652I;ENSP00000396592:R151I	.|ENSP00000303612:R641I	K|R	+|+	3|2	2|0	TTC15|TTC15	3461701|3461701	0.585000|0.585000	0.26774|0.26774	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	2.600000|2.600000	0.46240|0.46240	0.403000|0.403000	0.25479|0.25479	-0.805000|-0.805000	0.03199|0.03199	AAG|AGA		0.532	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206693.2	NM_016030	
RNF144A	9781	broad.mit.edu	37	2	7154885	7154885	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:7154885A>G	ENST00000320892.6	+	5	725	c.283A>G	c.(283-285)Aag>Gag	p.K95E	RNF144A_ENST00000467276.1_Intron	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	95					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGATATAAAAAGCTACAATT	0.368																																						uc002qys.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25						c.(283-285)Aag>Gag		Homo sapiens ring finger protein 144A (RNF144A), mRNA.							110.0	114.0	113.0					2																	7154885		2203	4300	6503	SO:0001583	missense	9781					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding	g.chr2:7154885A>G	D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.283A>G	2.37:g.7154885A>G	ENSP00000321330:p.Lys95Glu						p.K95E	NM_014746	NP_055561	P50876	R144A_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.195)	4	725	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)	95					D6W4Y6|Q585H5	Missense_Mutation	SNP	ENST00000320892.6	37	c.283A>G	CCDS1657.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227604	0.58668	.	.	ENSG00000151692	ENST00000320892;ENST00000427092	T	0.80566	-1.39	5.52	5.52	0.82312	Zinc finger, C6HC-type (2);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	L	0.28556	0.865	0.54753	D	0.999984	B	0.33807	0.426	B	0.34652	0.187	T	0.67703	-0.5602	10	0.11794	T	0.64	.	15.9458	0.79792	1.0:0.0:0.0:0.0	.	95	P50876	R144A_HUMAN	E	95	ENSP00000321330:K95E	ENSP00000321330:K95E	K	+	1	0	RNF144A	7072336	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.501000	0.73691	2.216000	0.71823	0.533000	0.62120	AAG		0.368	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206725.2	NM_014746	
THADA	63892	broad.mit.edu	37	2	43802136	43802136	+	Silent	SNP	C	C	T	rs548584846		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:43802136C>T	ENST00000405006.4	-	11	1419	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	THADA_ENST00000405975.2_Silent_p.L356L|THADA_ENST00000404790.1_Silent_p.L356L|THADA_ENST00000330266.7_Silent_p.L66L|THADA_ENST00000403856.1_Silent_p.L356L|THADA_ENST00000415080.2_Silent_p.L66L|THADA_ENST00000402360.2_Silent_p.L356L	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	356										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATTCTAGACAGAAACATTT	0.373																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(1066-1068)ctG>ctA		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							118.0	114.0	116.0					2																	43802136		1821	4079	5900	SO:0001819	synonymous_variant	63892						binding	g.chr2:43802136C>T	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.1068G>A	2.37:g.43802136C>T						THADA_uc002rsx.4_Silent_p.L356L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.4_Silent_p.L356L|THADA_uc002rtd.3_Silent_p.L356L	p.L356L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			10	1420	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	356					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.1068G>A	CCDS46268.1																																																																																				0.373	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
TTC30B	150737	broad.mit.edu	37	2	178416069	178416069	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:178416069A>T	ENST00000408939.3	-	1	1673	c.1423T>A	c.(1423-1425)Tac>Aac	p.Y475N		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	475					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCTTTGTATTTGTTTTCC	0.393																																						uc002uln.3																			0				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23						c.(1423-1425)Tac>Aac		Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.							78.0	80.0	79.0					2																	178416069		2164	4256	6420	SO:0001583	missense	150737				cell projection organization	cilium	binding	g.chr2:178416069A>T	AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.1423T>A	2.37:g.178416069A>T	ENSP00000386181:p.Tyr475Asn					TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N	p.Y475N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)		0	1456	-			475					Q63HQ1|Q96NE6	Missense_Mutation	SNP	ENST00000408939.3	37	c.1423T>A	CCDS42784.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340088	0.60963	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.68479	-0.33	4.75	4.75	0.60458	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83640	0.5298	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	D	0.87265	0.2282	10	0.87932	D	0	.	14.7035	0.69171	1.0:0.0:0.0:0.0	.	475	Q8N4P2	TT30B_HUMAN	N	428;475	ENSP00000386181:Y475N	ENSP00000386181:Y475N	Y	-	1	0	TTC30B	178124315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.255000	0.78338	2.125000	0.65367	0.533000	0.62120	TAC		0.393	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334193.2	NM_152517	
MYO1B	4430	broad.mit.edu	37	2	192265141	192265141	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:192265141A>G	ENST00000392318.3	+	22	2576	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	MYO1B_ENST00000304164.4_Missense_Mutation_p.K777E|MYO1B_ENST00000439065.2_Missense_Mutation_p.K51E|MYO1B_ENST00000392316.1_Missense_Mutation_p.K777E|MYO1B_ENST00000339514.4_Missense_Mutation_p.K777E	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	777	IQ 3. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAGCATCAAAAGCGCTGTAA	0.473																																						uc010fsg.2																			0				NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55						c.(2329-2331)Aag>Gag		Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.							99.0	100.0	99.0					2																	192265141		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192265141A>G	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2329A>G	2.37:g.192265141A>G	ENSP00000376132:p.Lys777Glu					MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E	p.K777E	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		21	2584	+			777			IQ 3.		O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.2329A>G	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753251	0.69648	.	.	ENSG00000128641	ENST00000339514;ENST00000392318;ENST00000304164;ENST00000392316;ENST00000439065	D;D;D;D;T	0.88201	-2.3;-2.33;-2.33;-2.35;-0.53	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.78654	0.4317	N	0.08118	0	0.58432	D	0.999997	B;B;B	0.22746	0.002;0.074;0.023	B;B;B	0.20577	0.002;0.03;0.016	T	0.74472	-0.3654	10	0.30078	T	0.28	.	14.6294	0.68645	1.0:0.0:0.0:0.0	.	51;777;777	E7EPB4;O43795;O43795-2	.;MYO1B_HUMAN;.	E	777;777;777;777;51	ENSP00000341903:K777E;ENSP00000376132:K777E;ENSP00000306382:K777E;ENSP00000376130:K777E;ENSP00000391442:K51E	ENSP00000306382:K777E	K	+	1	0	MYO1B	191973386	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.902000	0.92568	2.184000	0.69523	0.528000	0.53228	AAG		0.473	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
DNAH7	56171	broad.mit.edu	37	2	196852773	196852773	+	Missense_Mutation	SNP	A	A	G	rs374965359		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:196852773A>G	ENST00000312428.6	-	13	1634	c.1534T>C	c.(1534-1536)Ttc>Ctc	p.F512L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	512	Stem. {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						TCTGCGAGGAAGTTATCAACA	0.338																																						uc002utj.4																			0				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						c.(1534-1536)Ttc>Ctc		Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.							110.0	99.0	102.0					2																	196852773		1820	4083	5903	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196852773A>G	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.1534T>C	2.37:g.196852773A>G	ENSP00000311273:p.Phe512Leu						p.F512L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			12	1635	-			512			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.1534T>C	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831417	0.50845	.	.	ENSG00000118997	ENST00000312428	T	0.24151	1.87	5.46	5.46	0.80206	.	0.067439	0.64402	D	0.000020	T	0.30355	0.0762	M	0.64567	1.98	0.80722	D	1	B	0.18166	0.026	B	0.19391	0.025	T	0.05115	-1.0905	10	0.49607	T	0.09	.	15.1954	0.73084	1.0:0.0:0.0:0.0	.	512	Q8WXX0	DYH7_HUMAN	L	512	ENSP00000311273:F512L	ENSP00000311273:F512L	F	-	1	0	DNAH7	196561018	1.000000	0.71417	0.490000	0.27465	0.579000	0.36224	5.713000	0.68415	2.076000	0.62316	0.528000	0.53228	TTC		0.338	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
CXCR1	3577	broad.mit.edu	37	2	219029097	219029097	+	Missense_Mutation	SNP	G	G	A	rs61755739		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:219029097G>A	ENST00000295683.2	-	2	958	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	280					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	ATGTTGTTGCGGCGCTCACAG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		19235	0.0		0.001	False		,,,				2504	0.0					uc021vwq.1																			0		p.R279C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(838-840)Cgc>Tgc		Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.							76.0	74.0	75.0					2																	219029097		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029097G>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.838C>T	2.37:g.219029097G>A	ENSP00000295683:p.Arg280Cys					CXCR1_uc002vhc.3_Missense_Mutation_p.R280C|HV303425_uc021vwr.1_5'Flank	p.R280C	NM_000634	NP_000625	P25024	CXCR1_HUMAN			0	838	-			280					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.838C>T	CCDS2409.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.03	2.115151	0.37339	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.37411	1.2	4.89	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.054967	0.64402	D	0.000003	T	0.57636	0.2067	M	0.81942	2.565	0.54753	D	0.999985	D	0.76494	0.999	D	0.70487	0.969	T	0.62238	-0.6896	10	0.87932	D	0	.	10.0276	0.42081	0.0:0.1462:0.7038:0.15	rs61755739	280	P25024	CXCR1_HUMAN	C	280;224	ENSP00000295683:R280C	ENSP00000295683:R280C	R	-	1	0	CXCR1	218737342	0.513000	0.26194	0.970000	0.41538	0.130000	0.20726	1.176000	0.31957	2.406000	0.81754	0.561000	0.74099	CGC		0.572	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634	
TRIP12	9320	broad.mit.edu	37	2	230724206	230724206	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:230724206C>T	ENST00000283943.5	-	3	361	c.183G>A	c.(181-183)ggG>ggA	p.G61G	TRIP12_ENST00000389044.4_Silent_p.G103G|TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Silent_p.G103G|TRIP12_ENST00000409677.1_Silent_p.G103G	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	61					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGGCACCTGCCCCGTTTTTT	0.453																																						uc002vpx.1																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(307-309)ggG>ggA		Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.							169.0	178.0	175.0					2																	230724206		2203	4300	6503	SO:0001819	synonymous_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230724206C>T	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.183G>A	2.37:g.230724206C>T						TRIP12_uc021vxw.1_Silent_p.G61G|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Silent_p.G61G|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Silent_p.G61G	p.G103G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	3	418	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	61					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Silent	SNP	ENST00000283943.5	37	c.309G>A	CCDS33391.1																																																																																				0.453	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	
SLC52A3	113278	broad.mit.edu	37	20	744614	744614	+	Missense_Mutation	SNP	C	C	T	rs565998859		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:744614C>T	ENST00000217254.7	-	3	842	c.601G>A	c.(601-603)Gga>Aga	p.G201R	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000381944.3_Missense_Mutation_p.G201R	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	201					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GCTTCCATTCCGGGGAGGGCG	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		17950	0.0		0.0	False		,,,				2504	0.001					uc002wed.4																			0											c.(601-603)Gga>Aga		Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.							29.0	26.0	27.0					20																	744614		2201	4298	6499	SO:0001583	missense	113278				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	g.chr20:744614C>T	AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.601G>A	20.37:g.744614C>T	ENSP00000217254:p.Gly201Arg					SLC52A3_uc002wee.2_Missense_Mutation_p.G201R	p.G201R	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN			2	940	-			201					A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Missense_Mutation	SNP	ENST00000217254.7	37	c.601G>A	CCDS13007.1	.	.	.	.	.	.	.	.	.	.	C	0.769	-0.766397	0.02974	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.72051	-0.62;-0.62	2.49	-3.89	0.04193	.	3.044690	0.01024	N	0.004033	T	0.47600	0.1454	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.37407	-0.9707	10	0.15952	T	0.53	.	8.1589	0.31187	0.0:0.3795:0.0:0.6205	.	201;201	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	R	201	ENSP00000217254:G201R;ENSP00000371370:G201R	ENSP00000217254:G201R	G	-	1	0	C20orf54	692614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.457000	0.06745	-0.992000	0.03472	-1.326000	0.01283	GGA		0.587	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077482.2	NM_033409	
PCSK2	5126	broad.mit.edu	37	20	17434509	17434509	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:17434509C>T	ENST00000262545.2	+	9	1323	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	PCSK2_ENST00000377899.1_Silent_p.N317N|PCSK2_ENST00000536609.1_Silent_p.N301N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	336	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCCATCAACGACGGCAGGA	0.617																																						uc002wpm.3																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1006-1008)aaC>aaT		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						151.0	113.0	126.0					20																	17434509		2203	4300	6503	SO:0001819	synonymous_variant	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17434509C>T	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1008C>T	20.37:g.17434509C>T						PCSK2_uc002wpl.3_Silent_p.N317N|PCSK2_uc010zrm.2_Silent_p.N301N	p.N336N	NM_002594	NP_001188457	P16519	NEC2_HUMAN			8	1362	+			336			Catalytic.		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	c.1008C>T	CCDS13125.1																																																																																				0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
HELZ2	85441	broad.mit.edu	37	20	62198633	62198633	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:62198633G>A	ENST00000467148.1	-	6	2147	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	HELZ2_ENST00000479540.1_5'Flank|HELZ2_ENST00000427522.2_Missense_Mutation_p.A124V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	693	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GTGGTCGCCCGCCAGCACGAG	0.682																																						uc002yfm.2																			0		p.L692L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(2077-2079)gCg>gTg		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.							13.0	17.0	15.0					20																	62198633		2137	4188	6325	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62198633G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2078C>T	20.37:g.62198633G>A	ENSP00000417401:p.Ala693Val					PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	p.A693V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		6	2970	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		693					Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.2078C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027804	0.75390	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.73575	-0.76;-0.76	4.67	4.67	0.58626	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	L	0.37630	1.12	0.49051	D	0.999749	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.99	T	0.73285	-0.4031	10	0.11182	T	0.66	-21.7097	17.5685	0.87927	0.0:0.0:1.0:0.0	.	693;124	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	124;693	ENSP00000393257:A124V;ENSP00000417401:A693V	ENSP00000393257:A124V	A	-	2	0	RP4-697K14.7	61669077	1.000000	0.71417	0.743000	0.31040	0.087000	0.18053	7.552000	0.82192	2.173000	0.68751	0.549000	0.68633	GCG		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
SAMSN1	64092	broad.mit.edu	37	21	15858270	15858270	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr21:15858270A>T	ENST00000400566.1	-	8	1166	c.1085T>A	c.(1084-1086)aTg>aAg	p.M362K	SAMSN1_ENST00000400564.1_Missense_Mutation_p.M194K|SAMSN1_ENST00000285670.2_Missense_Mutation_p.M430K	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	362					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTATGTACCATGTCAGACAG	0.398																																						uc002yju.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(1084-1086)aTg>aAg		Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.							176.0	160.0	165.0					21																	15858270		1865	4122	5987	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15858270A>T	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.1085T>A	21.37:g.15858270A>T	ENSP00000383411:p.Met362Lys					SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	p.M362K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	7	1167	-			362					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.1085T>A	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	A	12.64	1.999678	0.35320	.	.	ENSG00000155307	ENST00000285670;ENST00000400566;ENST00000400564	T;T	0.42900	0.96;1.01	6.08	4.92	0.64577	.	0.302388	0.38436	N	0.001691	T	0.46852	0.1414	M	0.72479	2.2	0.48511	D	0.999664	P;P;P	0.51933	0.763;0.949;0.651	B;P;B	0.46543	0.311;0.52;0.165	T	0.44283	-0.9338	10	0.31617	T	0.26	-23.5298	12.4261	0.55548	0.9339:0.0:0.0661:0.0	.	194;430;362	Q9NSI8-2;F8WAA1;Q9NSI8	.;.;SAMN1_HUMAN	K	430;362;194	ENSP00000285670:M430K;ENSP00000383411:M362K	ENSP00000285670:M430K	M	-	2	0	SAMSN1	14780141	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	3.005000	0.49521	2.333000	0.79357	0.482000	0.46254	ATG		0.398	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
RBMS3	27303	broad.mit.edu	37	3	30032579	30032579	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:30032579G>T	ENST00000383767.2	+	14	1522	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	RBMS3_ENST00000456853.1_Missense_Mutation_p.V393F|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000273139.9_Missense_Mutation_p.V380F|RBMS3_ENST00000383766.2_Missense_Mutation_p.V378F|RBMS3_ENST00000396583.3_Missense_Mutation_p.V393F|RBMS3_ENST00000434693.2_Missense_Mutation_p.V395F|RBMS3_ENST00000452462.1_Missense_Mutation_p.V380F			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	396					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTAGGGTGTTGTTGCTGATAC	0.493																																						uc003cel.3																			0				breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11						c.(1186-1188)Gtt>Ttt		Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.							197.0	164.0	176.0					3																	30032579		2203	4300	6503	SO:0001583	missense	27303					cytoplasm	nucleotide binding|RNA binding	g.chr3:30032579G>T	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.1186G>T	3.37:g.30032579G>T	ENSP00000373277:p.Val396Phe					RBMS3_uc010hfq.3_Missense_Mutation_p.V393F|RBMS3_uc003cek.3_Missense_Mutation_p.V380F|RBMS3_uc010hfr.3_Missense_Mutation_p.V380F|RBMS3_uc003cem.3_Missense_Mutation_p.V378F	p.V396F	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN			13	1556	+		Ovarian(412;0.0956)	396					A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Missense_Mutation	SNP	ENST00000383767.2	37	c.1186G>T	CCDS33724.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907561	0.92107	.	.	ENSG00000144642	ENST00000434693;ENST00000396583;ENST00000383767;ENST00000273139;ENST00000383766;ENST00000452462;ENST00000456853	T;T;T;T;T;T;T	0.27104	1.69;1.7;1.7;1.7;1.85;1.7;1.71	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	N	0.08118	0	0.58432	D	0.999992	B;D;B;B	0.52996	0.052;0.957;0.132;0.081	B;P;B;B	0.52481	0.007;0.7;0.043;0.019	T	0.11012	-1.0605	9	.	.	.	.	18.9853	0.92767	0.0:0.0:1.0:0.0	.	380;393;378;396	G5E9J9;Q6XE24-2;Q6XE24-3;Q6XE24	.;.;.;RBMS3_HUMAN	F	395;393;396;380;378;380;393	ENSP00000395592:V395F;ENSP00000379828:V393F;ENSP00000373277:V396F;ENSP00000273139:V380F;ENSP00000373276:V378F;ENSP00000397926:V380F;ENSP00000400519:V393F	.	V	+	1	0	RBMS3	30007583	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.950000	0.93019	2.469000	0.83416	0.655000	0.94253	GTT		0.493	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
CLASP2	23122	broad.mit.edu	37	3	33584995	33584995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:33584995G>A	ENST00000468888.2	-	32	3404	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CLASP2_ENST00000539981.1_Nonsense_Mutation_p.R889*|CLASP2_ENST00000480013.1_Nonsense_Mutation_p.R899*|CLASP2_ENST00000359576.5_Nonsense_Mutation_p.R1111*|CLASP2_ENST00000307312.7_Nonsense_Mutation_p.R601*|CLASP2_ENST00000461133.3_Nonsense_Mutation_p.R879*|CLASP2_ENST00000399362.4_Nonsense_Mutation_p.R1119*			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	900	Interaction with RSN and localization to the Golgi and kinetochores.|Required for cortical localization.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGATCGTGGTGTTGGT	0.373																																						uc021wvc.1																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(3358-3360)Cga>Tga		Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.							157.0	154.0	155.0					3																	33584995		1889	4125	6014	SO:0001587	stop_gained	23122							g.chr3:33584995G>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.3358C>T	3.37:g.33584995G>A	ENSP00000419974:p.Arg1120*					CLASP2_uc003cfs.3_Nonsense_Mutation_p.R319*|CLASP2_uc021wva.1_Nonsense_Mutation_p.R194*|CLASP2_uc021wvb.1_Nonsense_Mutation_p.R899*|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712*	p.R1120*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN			31	3569	-			1121					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Nonsense_Mutation	SNP	ENST00000468888.2	37	c.3358C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.695754|4.695754	0.88830|0.88830	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.054289|.	0.64402|.	D|.	0.000001|.	.|T	.|0.64994	.|0.2649	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69676	.|-0.5081	.|3	0.02654|.	T|.	1|.	-10.7607|-10.7607	13.4032|13.4032	0.60896|0.60896	0.0747:0.0:0.9253:0.0|0.0747:0.0:0.9253:0.0	.|.	.|.	.|.	.|.	X|M	1120;1119;1111;601;889;899;879|175	.|.	ENSP00000304743:R601X|.	R|T	-|-	1|2	2|0	CLASP2|CLASP2	33559999|33559999	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.464000|3.464000	0.53057|0.53057	2.697000|2.697000	0.92050|0.92050	0.585000|0.585000	0.79938|0.79938	CGA|ACG		0.373	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044	
STAB1	23166	broad.mit.edu	37	3	52550236	52550236	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:52550236G>A	ENST00000321725.6	+	38	4202	c.4126G>A	c.(4126-4128)Ggg>Agg	p.G1376R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1376	Laminin EGF-like 1. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCGCTACGGGCCCAACTG	0.697																																						uc003dej.3																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(4126-4128)Ggg>Agg		Homo sapiens stabilin 1 (STAB1), mRNA.							29.0	28.0	29.0					3																	52550236		2203	4298	6501	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52550236G>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4126G>A	3.37:g.52550236G>A	ENSP00000312946:p.Gly1376Arg					STAB1_uc003dek.1_5'Flank	p.G1376R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	37	4200	+			1376			Laminin EGF-like 1.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.4126G>A	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	32	5.141008	0.94560	.	.	ENSG00000010327	ENST00000321725	D	0.87650	-2.28	4.96	4.96	0.65561	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.94941	0.8364	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95704	0.8752	10	0.62326	D	0.03	.	18.1742	0.89756	0.0:0.0:1.0:0.0	.	1376	Q9NY15	STAB1_HUMAN	R	1376	ENSP00000312946:G1376R	ENSP00000312946:G1376R	G	+	1	0	STAB1	52525276	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.147000	0.94646	2.448000	0.82819	0.462000	0.41574	GGG		0.697	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
DENND6A	201627	broad.mit.edu	37	3	57646541	57646541	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:57646541A>G	ENST00000311128.5	-	7	715	c.645T>C	c.(643-645)ccT>ccC	p.P215P		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	215					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										GCACTGGGGCAGGCCATCGAT	0.303																																						uc003dja.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16						c.(643-645)ccT>ccC		Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.							42.0	42.0	42.0					3																	57646541		2203	4300	6503	SO:0001819	synonymous_variant	201627							g.chr3:57646541A>G	AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.645T>C	3.37:g.57646541A>G							p.P215P	NM_152678	NP_689891	Q8IWF6	F116A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)	6	716	-			215					Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	ENST00000311128.5	37	c.645T>C	CCDS33773.1	.	.	.	.	.	.	.	.	.	.	A	9.329	1.059936	0.19987	.	.	ENSG00000174839	ENST00000477344	.	.	.	5.02	2.59	0.31030	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26538	-1.0100	4	.	.	.	-23.5419	1.7881	0.03046	0.4611:0.2659:0.0841:0.189	.	.	.	.	R	5	.	.	C	-	1	0	FAM116A	57621581	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	0.878000	0.28126	0.255000	0.21593	0.377000	0.23210	TGC		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
C3orf67	200844	broad.mit.edu	37	3	58739528	58739528	+	Missense_Mutation	SNP	C	C	T	rs139574013	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:58739528C>T	ENST00000482387.1	-	12	2021	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	C3orf67_ENST00000295966.7_Missense_Mutation_p.R516H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	642										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAATCTGGACGCTGCTCAGC	0.388																																						uc003dkt.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19						c.(1546-1548)cGt>cAt		Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.		C	HIS/ARG	0,4406		0,0,2203	54.0	56.0	56.0		1547	-3.5	0.0	3	dbSNP_134	56	5,8595	4.3+/-15.6	0,5,4295	yes	missense	C3orf67	NM_198463.2	29	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	516/564	58739528	5,13001	2203	4300	6503	SO:0001583	missense	200844							g.chr3:58739528C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1925G>A	3.37:g.58739528C>T	ENSP00000417122:p.Arg642His					C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.R457H	p.R516H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	14	1956	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	508					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.1547G>A		.	.	.	.	.	.	.	.	.	.	C	4.423	0.078220	0.08485	0.0	5.81E-4	ENSG00000163689	ENST00000295966;ENST00000482387	T;T	0.19250	2.18;2.16	5.77	-3.52	0.04682	.	0.856700	0.10587	N	0.657161	T	0.04363	0.0120	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39014	-0.9634	10	0.02654	T	1	0.0948	3.3387	0.07110	0.1015:0.1929:0.1045:0.6011	.	516;642	Q6ZVT6-2;Q6ZVT6	.;CC067_HUMAN	H	516;642	ENSP00000295966:R516H;ENSP00000417122:R642H	ENSP00000295966:R516H	R	-	2	0	C3orf67	58714568	0.008000	0.16893	0.000000	0.03702	0.113000	0.19764	-0.113000	0.10774	-0.314000	0.08716	-1.154000	0.01816	CGT		0.388	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
PPP4R2	151987	broad.mit.edu	37	3	73114106	73114106	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:73114106C>T	ENST00000356692.5	+	8	995	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PPP4R2_ENST00000394284.3_Missense_Mutation_p.L191F|PPP4R2_ENST00000295862.9_Missense_Mutation_p.L192F			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	248					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGTAAAAAGACTCAGGTTTGA	0.433																																						uc003dph.1																			0		p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12						c.(742-744)Ctc>Ttc		Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.							59.0	62.0	61.0					3																	73114106		2203	4300	6503	SO:0001583	missense	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114106C>T	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.742C>T	3.37:g.73114106C>T	ENSP00000349124:p.Leu248Phe					PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	p.L248F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	7	812	+		Prostate(10;0.0187)|Lung SC(41;0.236)	248					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Missense_Mutation	SNP	ENST00000356692.5	37	c.742C>T	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.051330	0.75960	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.29	4.4	0.53042	.	0.108374	0.64402	D	0.000004	T	0.65729	0.2719	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65109	-0.6248	10	0.42905	T	0.14	.	13.6742	0.62443	0.0:0.9255:0.0:0.0745	.	191;248	Q9NY27-2;Q9NY27	.;PP4R2_HUMAN	F	248;223;191;192	ENSP00000349124:L248F;ENSP00000418750:L223F;ENSP00000377825:L191F;ENSP00000295862:L192F	ENSP00000295862:L192F	L	+	1	0	PPP4R2	73196796	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.326000	0.65875	2.622000	0.88805	0.650000	0.86243	CTC		0.433	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907	
ABCC5	10057	broad.mit.edu	37	3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	rs376038853		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ATTGTCCAGACGCTTCAGCTC	0.562																																						uc003fmg.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(3121-3123)cGt>cAt		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.		C	HIS/ARG	1,4213		0,1,2106	121.0	130.0	127.0		3122	4.9	1.0	3		127	1,8447		0,1,4223	no	missense	ABCC5	NM_005688.2	29	0,2,6329	TT,TC,CC		0.0118,0.0237,0.0158	probably-damaging	1041/1438	183667646	2,12660	2107	4224	6331	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183667646C>T	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3122G>A	3.37:g.183667646C>T	ENSP00000333926:p.Arg1041His					ABCC5_uc011bqt.2_Missense_Mutation_p.R569H|ABCC5_uc010hxl.3_Intron	p.R1041H	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		21	3287	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1041			ABC transmembrane type-1 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3122G>A	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003048	0.93287	2.37E-4	1.18E-4	ENSG00000114770	ENST00000334444	D	0.90444	-2.67	5.81	4.94	0.65067	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047266	0.85682	N	0.000000	D	0.96623	0.8898	H	0.95151	3.63	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97496	1.0057	10	0.66056	D	0.02	-8.3426	14.6272	0.68629	0.0:0.9305:0.0:0.0695	.	1041	O15440	MRP5_HUMAN	H	1041	ENSP00000333926:R1041H	ENSP00000333926:R1041H	R	-	2	0	ABCC5	185150340	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.802000	0.85969	1.461000	0.47929	0.655000	0.94253	CGT		0.562	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
HTR3E	285242	broad.mit.edu	37	3	183824315	183824315	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183824315G>T	ENST00000415389.2	+	9	1671	c.1205G>T	c.(1204-1206)gGg>gTg	p.G402V	HTR3E_ENST00000440596.2_Missense_Mutation_p.G428V|HTR3E_ENST00000425359.2_Missense_Mutation_p.G387V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.G402V|HTR3E_ENST00000335304.2_Missense_Mutation_p.G417V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	402					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GAGCTGACAGGGGGCTCAGAA	0.612																																					Melanoma(7;227 727 6634 44770)	uc010hxr.3																			0		p.H428H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40						c.(1282-1284)gGg>gTg		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.							64.0	63.0	63.0					3																	183824315		2203	4300	6503	SO:0001583	missense	285242					integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183824315G>T	AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1205G>T	3.37:g.183824315G>T	ENSP00000401444:p.Gly402Val					HTR3E_uc010hxq.3_Missense_Mutation_p.G402V|HTR3E_uc003fml.4_Missense_Mutation_p.G387V|HTR3E_uc003fmm.3_Missense_Mutation_p.G417V|HTR3E_uc003fmn.3_Missense_Mutation_p.G402V	p.G428V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		6	1477	+	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		402					A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	ENST00000415389.2	37	c.1283G>T	CCDS58868.1	.	.	.	.	.	.	.	.	.	.	g	9.042	0.989941	0.18966	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62	4.07	0.0322	0.14174	Neurotransmitter-gated ion-channel transmembrane domain (1);	1.484720	0.05092	U	0.485475	T	0.81133	0.4759	L	0.49778	1.585	0.09310	N	1	B;B;P;B;B	0.36010	0.022;0.078;0.532;0.384;0.028	B;B;P;P;B	0.45681	0.024;0.376;0.49;0.49;0.258	T	0.64183	-0.6467	10	0.29301	T	0.29	.	3.0482	0.06160	0.3337:0.0:0.4752:0.191	.	428;402;402;417;387	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	402;387;417;402;428	ENSP00000401444:G402V;ENSP00000401900:G387V;ENSP00000335511:G417V;ENSP00000395833:G402V;ENSP00000406050:G428V	ENSP00000335511:G417V	G	+	2	0	HTR3E	185307009	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	0.362000	0.20284	-0.129000	0.11620	-0.126000	0.14955	GGG		0.612	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
RGS12	6002	broad.mit.edu	37	4	3427237	3427237	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:3427237T>G	ENST00000344733.5	+	14	4185	c.3281T>G	c.(3280-3282)cTg>cGg	p.L1094R	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Missense_Mutation_p.L1094R|RGS12_ENST00000306648.7_Missense_Mutation_p.L492R|RGS12_ENST00000382788.3_Missense_Mutation_p.L1094R|RGS12_ENST00000338806.4_Missense_Mutation_p.L446R|RGS12_ENST00000538395.1_Missense_Mutation_p.L436R	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1094	RBD 2. {ECO:0000255|PROSITE- ProRule:PRU00262}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATCGAGTCTGGACGGACAG	0.572																																						uc003ggw.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3280-3282)cTg>cGg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							131.0	140.0	137.0					4																	3427237		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3427237T>G	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3281T>G	4.37:g.3427237T>G	ENSP00000339381:p.Leu1094Arg					RGS12_uc003ggv.3_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.3_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.2_Missense_Mutation_p.L436R|RGS12_uc003gha.3_Missense_Mutation_p.L436R|RGS12_uc010icv.3_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R	p.L1094R	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	13	4185	+			1094			RBD 2.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.3281T>G	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.704090	0.68615	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.49432	1.09;1.09;1.09;0.8;0.78;0.83	4.76	4.76	0.60689	Raf-like Ras-binding (3);	0.000000	0.64402	D	0.000005	T	0.64360	0.2591	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	T	0.68070	-0.5506	10	0.87932	D	0	-19.2234	13.7417	0.62852	0.0:0.0:0.0:1.0	.	436;293;293;436;446;492;1094;1094	B7Z764;B3KVS7;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;RGS12_HUMAN;.	R	1094;1094;1094;492;446;436	ENSP00000339381:L1094R;ENSP00000338509:L1094R;ENSP00000372238:L1094R;ENSP00000304459:L492R;ENSP00000342133:L446R;ENSP00000438888:L436R	ENSP00000304459:L492R	L	+	2	0	RGS12	3397035	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.259000	0.78381	1.903000	0.55091	0.529000	0.55759	CTG		0.572	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
CLNK	116449	broad.mit.edu	37	4	10567771	10567771	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:10567771T>C	ENST00000226951.6	-	6	393	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CLNK_ENST00000507719.1_Missense_Mutation_p.R10G|CLNK_ENST00000442825.2_Missense_Mutation_p.R10G	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	52					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GCAAAGTTTCTTTCCTAAGCA	0.458																																					GBM(87;402 1286 6949 13902 35851)	uc003gmo.4																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						c.(154-156)Aga>Gga		Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.							144.0	142.0	143.0					4																	10567771		1982	4167	6149	SO:0001583	missense	116449				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity	g.chr4:10567771T>C	AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.154A>G	4.37:g.10567771T>C	ENSP00000226951:p.Arg52Gly					CLNK_uc003gmp.3_Missense_Mutation_p.R10G	p.R52G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN			5	291	-			52					Q05C27|Q9P2U9	Missense_Mutation	SNP	ENST00000226951.6	37	c.154A>G	CCDS47024.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666028	0.29604	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.54866	1.53;0.55;0.55	5.55	4.37	0.52481	.	1.505630	0.03782	N	0.261483	T	0.57140	0.2033	L	0.32530	0.975	0.09310	N	1	P;P	0.51351	0.944;0.919	P;P	0.52957	0.714;0.534	T	0.42396	-0.9454	10	0.72032	D	0.01	-5.5673	8.1528	0.31152	0.0:0.091:0.0:0.909	.	10;52	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	G	52;52;10;10	ENSP00000226951:R52G;ENSP00000390744:R10G;ENSP00000427208:R10G	ENSP00000226951:R52G	R	-	1	2	CLNK	10176869	0.490000	0.26012	0.015000	0.15790	0.023000	0.10783	1.377000	0.34317	0.950000	0.37743	0.477000	0.44152	AGA		0.458	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359047.1	NM_052964	
CORIN	10699	broad.mit.edu	37	4	47625643	47625643	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:47625643C>A	ENST00000273857.4	-	19	2484	c.2485G>T	c.(2485-2487)Ggc>Tgc	p.G829C	CORIN_ENST00000505909.1_Missense_Mutation_p.G792C|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.G762C|CORIN_ENST00000508498.1_Missense_Mutation_p.G690C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	829	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGACACAGCCACAGATATGT	0.527																																						uc003gxm.3																			0		p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						c.(2485-2487)Ggc>Tgc		Homo sapiens corin, serine peptidase (CORIN), mRNA.							106.0	103.0	104.0					4																	47625643		2203	4300	6503	SO:0001583	missense	10699				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	g.chr4:47625643C>A	AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.2485G>T	4.37:g.47625643C>A	ENSP00000273857:p.Gly829Cys					CORIN_uc011bzf.2_Missense_Mutation_p.G690C|CORIN_uc011bzg.2_Missense_Mutation_p.G762C	p.G829C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN			18	2578	-			829			Peptidase S1.		B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	ENST00000273857.4	37	c.2485G>T	CCDS3477.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887496	0.91814	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909	D;D;D;D	0.94092	-3.35;-3.35;-3.35;-3.35	5.14	5.14	0.70334	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.97952	0.9326	H	0.96460	3.825	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99170	1.0864	10	0.87932	D	0	.	18.9577	0.92665	0.0:1.0:0.0:0.0	.	762;829	B4E1Y7;Q9Y5Q5	.;CORIN_HUMAN	C	829;690;762;792	ENSP00000273857:G829C;ENSP00000425597:G690C;ENSP00000424212:G762C;ENSP00000425401:G792C	ENSP00000273857:G829C	G	-	1	0	CORIN	47320400	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.217000	0.77982	2.539000	0.85634	0.585000	0.79938	GGC		0.527	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216906.2		
PDHA2	5161	broad.mit.edu	37	4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:96761557C>T	ENST00000295266.4	+	1	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	86					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.R86C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		GAAATTCATTCGCGGTTTCTG	0.517																																						uc003htr.4																			1	Substitution - Missense(1)	p.R86C(2)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(256-258)Cgc>Tgc		Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	NADH(DB00157)						115.0	101.0	105.0					4																	96761557		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761557C>T		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.256C>T	4.37:g.96761557C>T	ENSP00000295266:p.Arg86Cys						p.R86C	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	0	319	+		Hepatocellular(203;0.114)	86					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.256C>T	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128171	0.56721	.	.	ENSG00000163114	ENST00000295266	D	0.97752	-4.52	4.91	4.07	0.47477	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.98654	0.9549	M	0.92169	3.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	10	0.87932	D	0	-15.3125	6.3783	0.21519	0.1805:0.7274:0.0:0.092	.	86	P29803	ODPAT_HUMAN	C	86	ENSP00000295266:R86C	ENSP00000295266:R86C	R	+	1	0	PDHA2	96980580	0.942000	0.31987	0.156000	0.22583	0.585000	0.36419	1.969000	0.40510	1.456000	0.47831	0.467000	0.42956	CGC		0.517	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1		
ENPEP	2028	broad.mit.edu	37	4	111464226	111464226	+	Splice_Site	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:111464226G>T	ENST00000265162.5	+	13	2342	c.2000G>T	c.(1999-2001)aGa>aTa	p.R667I		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	667					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCTTGGCAAGGTGCGTTTTA	0.328																																						uc003iab.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.e13+1		Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	L-Glutamic Acid(DB00142)						132.0	130.0	130.0					4																	111464226		2203	4300	6503	SO:0001630	splice_region_variant	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111464226G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.2000+1G>T	4.37:g.111464226G>T							p.R667_splice	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	13	2342	+		Hepatocellular(203;0.217)	667					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.2000_splice	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855297	0.91355	.	.	ENSG00000138792	ENST00000265162	T	0.08807	3.05	5.17	5.17	0.71159	.	0.044333	0.85682	N	0.000000	T	0.28699	0.0711	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	T	0.01027	-1.1476	10	0.39692	T	0.17	.	18.6652	0.91488	0.0:0.0:1.0:0.0	.	667	Q07075	AMPE_HUMAN	I	667	ENSP00000265162:R667I	ENSP00000265162:R667I	R	+	2	0	ENPEP	111683675	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	5.612000	0.67681	2.412000	0.81896	0.655000	0.94253	AGA		0.328	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		Missense_Mutation
BRIX1	55299	broad.mit.edu	37	5	34924991	34924991	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:34924991C>G	ENST00000336767.5	+	9	1066	c.703C>G	c.(703-705)Cgt>Ggt	p.R235G	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	235	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AATAGGACCTCGTTTTGTCTT	0.358																																						uc003jja.3																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(703-705)Cgt>Ggt		Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.							94.0	95.0	94.0					5																	34924991		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34924991C>G		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.703C>G	5.37:g.34924991C>G	ENSP00000338862:p.Arg235Gly						p.R235G	NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN			8	727	+			235			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.703C>G	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566373	0.86439	.	.	ENSG00000113460	ENST00000336767	T	0.35048	1.33	5.6	5.6	0.85130	Brix domain (3);Anticodon-binding (1);	0.046970	0.85682	D	0.000000	T	0.72637	0.3485	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80725	-0.1254	10	0.87932	D	0	-2.5016	19.5989	0.95551	0.0:1.0:0.0:0.0	.	235	Q8TDN6	BRX1_HUMAN	G	235	ENSP00000338862:R235G	ENSP00000338862:R235G	R	+	1	0	BRIX1	34960748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.301000	0.78850	2.634000	0.89283	0.655000	0.94253	CGT		0.358	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321	
CHSY3	337876	broad.mit.edu	37	5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:129244015C>T	ENST00000305031.4	+	2	1406	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	350					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438																																						uc003kvd.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28						c.(1048-1050)Cgc>Tgc		Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.							167.0	143.0	151.0					5																	129244015		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129244015C>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1048C>T	5.37:g.129244015C>T	ENSP00000302629:p.Arg350Cys						p.R350C	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	1	1048	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	350					B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1048C>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874556	0.72180	.	.	ENSG00000198108	ENST00000305031	T	0.17370	2.28	4.55	4.55	0.56014	.	0.000000	0.38381	N	0.001706	T	0.42063	0.1186	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.15350	-1.0440	9	.	.	.	.	18.6332	0.91368	0.0:1.0:0.0:0.0	.	350	Q70JA7	CHSS3_HUMAN	C	350	ENSP00000302629:R350C	.	R	+	1	0	CHSY3	129271914	0.902000	0.30710	1.000000	0.80357	0.993000	0.82548	1.843000	0.39259	2.807000	0.96579	0.591000	0.81541	CGC		0.438	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
CSNK1A1	1452	broad.mit.edu	37	5	148929730	148929730	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:148929730C>T	ENST00000377843.2	-	2	617	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CSNK1A1_ENST00000515768.1_Silent_p.K46K|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515748.2_Silent_p.K46K|CSNK1A1_ENST00000261798.5_Silent_p.K46K|CSNK1A1_ENST00000504676.1_5'UTR	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATTCTAGCTTCACTGCCA	0.502																																					Colon(5;64 69 1309 10383)	uc003lqw.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14						c.(136-138)aaG>aaA		Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.							105.0	111.0	109.0					5																	148929730		2184	4299	6483	SO:0001819	synonymous_variant	1452				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr5:148929730C>T	AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.138G>A	5.37:g.148929730C>T						CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K	p.K46K	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)	1	618	-			46			Protein kinase.		D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	ENST00000377843.2	37	c.138G>A	CCDS47303.1																																																																																				0.502	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001892	
DSP	1832	broad.mit.edu	37	6	7569463	7569463	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:7569463C>T	ENST00000379802.3	+	12	1805	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	DSP_ENST00000418664.2_Silent_p.N488N	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	488	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.|SH3.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACAACAACGAGCGCAGCA	0.527																																						uc003mxp.1																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(1462-1464)aaC>aaT		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							160.0	130.0	140.0					6																	7569463		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7569463C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.1464C>T	6.37:g.7569463C>T						DSP_uc003mxq.1_Silent_p.N488N|DSP_uc021yle.1_Silent_p.N488N	p.N488N	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	11	1743	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	488			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.1464C>T	CCDS4501.1																																																																																				0.527	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
SRPK1	6732	broad.mit.edu	37	6	35855829	35855829	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:35855829G>C	ENST00000373825.2	-	5	647	c.362C>G	c.(361-363)gCa>gGa	p.A121G	SRPK1_ENST00000373822.1_Missense_Mutation_p.A14G|SRPK1_ENST00000423325.2_Missense_Mutation_p.A105G|SRPK1_ENST00000373821.2_5'UTR					SRSF protein kinase 1											endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCATCTAGTGCTGTTTCAGT	0.338																																					NSCLC(31;67 978 16289 24856 26454)	uc003olj.3																			0				endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(361-363)gCa>gGa		Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.							83.0	77.0	79.0					6																	35855829		1831	4078	5909	SO:0001583	missense	6732				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr6:35855829G>C	U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.362C>G	6.37:g.35855829G>C	ENSP00000362931:p.Ala121Gly					SRPK1_uc003olh.3_Missense_Mutation_p.A14G|SRPK1_uc003oli.3_Missense_Mutation_p.A14G|SRPK1_uc011dtg.2_Missense_Mutation_p.A105G	p.A121G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN			4	486	-			121			Protein kinase.			Missense_Mutation	SNP	ENST00000373825.2	37	c.362C>G	CCDS47415.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956901	0.92726	.	.	ENSG00000096063	ENST00000373825;ENST00000361690;ENST00000423325;ENST00000373822;ENST00000512445	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.0	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.34019	0.0883	L	0.48986	1.54	0.80722	D	1	P;D	0.76494	0.79;0.999	P;D	0.91635	0.758;0.999	T	0.06899	-1.0801	9	0.87932	D	0	-11.509	17.2322	0.86988	0.0:0.0:1.0:0.0	.	105;121	B4DS61;Q96SB4	.;SRPK1_HUMAN	G	121;137;105;14;137	ENSP00000362931:A121G;ENSP00000354674:A137G;ENSP00000391069:A105G;ENSP00000362928:A14G;ENSP00000424068:A137G	ENSP00000354674:A137G	A	-	2	0	SRPK1	35963807	1.000000	0.71417	0.998000	0.56505	0.699000	0.40488	9.569000	0.98170	2.599000	0.87857	0.655000	0.94253	GCA		0.338	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040319.3	NM_003137	
CDKN1A	1026	broad.mit.edu	37	6	36652137	36652137	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:36652137G>A	ENST00000405375.1	+	2	494	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CDKN1A_ENST00000373711.2_Missense_Mutation_p.D87N|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D121N|CDKN1A_ENST00000244741.5_Missense_Mutation_p.D87N|CDKN1A_ENST00000478800.1_3'UTR	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	87					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|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)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGAGGCCGGGATGAGTTGGG	0.657																																						uc021yzb.1																			0		p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						c.(259-261)Gat>Aat		Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.							26.0	27.0	27.0					6																	36652137		2202	4299	6501	SO:0001583	missense	1026				cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36652137G>A	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.259G>A	6.37:g.36652137G>A	ENSP00000384849:p.Asp87Asn					CDKN1A_uc021yzc.1_Missense_Mutation_p.D87N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D121N|CDKN1A_uc003omm.4_Missense_Mutation_p.D87N|CDKN1A_uc003omn.3_Missense_Mutation_p.D87N	p.D87N	NM_078467	NP_510867	P38936	CDN1A_HUMAN			2	361	+			87					Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	37	c.259G>A	CCDS4824.1	.	.	.	.	.	.	.	.	.	.	G	3.529	-0.096060	0.07010	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.16	5.16	0.70880	.	0.330750	0.26013	N	0.026861	T	0.35451	0.0932	L	0.36672	1.1	0.09310	N	0.999993	B;B;B	0.33528	0.416;0.2;0.2	B;B;B	0.28385	0.089;0.055;0.055	T	0.13710	-1.0499	10	0.17369	T	0.5	-9.4053	14.0264	0.64588	0.0:0.0:1.0:0.0	.	121;87;87	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	N	121;87;87;87	ENSP00000409259:D121N;ENSP00000244741:D87N;ENSP00000384849:D87N;ENSP00000362815:D87N	ENSP00000244741:D87N	D	+	1	0	CDKN1A	36760115	0.265000	0.24102	0.042000	0.18584	0.008000	0.06430	1.838000	0.39211	2.689000	0.91719	0.511000	0.50034	GAT		0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467	
PKHD1	5314	broad.mit.edu	37	6	51910848	51910848	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:51910848G>T	ENST00000371117.3	-	24	2821	c.2546C>A	c.(2545-2547)aCc>aAc	p.T849N	PKHD1_ENST00000340994.4_Missense_Mutation_p.T849N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	849					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGACAAGGTCCACACGTG	0.463																																						uc003pah.1																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(2545-2547)aCc>aAc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							131.0	110.0	117.0					6																	51910848		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51910848G>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2546C>A	6.37:g.51910848G>T	ENSP00000360158:p.Thr849Asn					PKHD1_uc003pai.3_Missense_Mutation_p.T849N	p.T849N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			23	2822	-	Lung NSC(77;0.0605)		849					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2546C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292107	0.59976	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87887	-2.11;-2.31	6.02	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.88183	0.6368	M	0.62723	1.935	0.32579	N	0.52876	D;D	0.89917	0.998;1.0	D;D	0.85130	0.971;0.997	D	0.85126	0.0972	10	0.15952	T	0.53	.	14.9552	0.71107	0.0:0.1436:0.8564:0.0	.	849;849	P08F94-2;P08F94	.;PKHD1_HUMAN	N	849	ENSP00000360158:T849N;ENSP00000341097:T849N	ENSP00000341097:T849N	T	-	2	0	PKHD1	52018807	1.000000	0.71417	0.914000	0.36105	0.690000	0.40134	6.303000	0.72794	1.521000	0.48983	0.655000	0.94253	ACC		0.463	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
HCRTR2	3062	broad.mit.edu	37	6	55113582	55113582	+	Silent	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:55113582A>G	ENST00000370862.3	+	2	705	c.369A>G	c.(367-369)ggA>ggG	p.G123G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	123					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTTTTTTGGACAGTCCCTTT	0.428																																						uc003pcl.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(367-369)ggA>ggG		Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.							255.0	237.0	243.0					6																	55113582		2203	4299	6502	SO:0001819	synonymous_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55113582A>G	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.369A>G	6.37:g.55113582A>G						HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.G58G	p.G123G	NM_001526	NP_001517	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	684	+	Lung NSC(77;0.107)|Renal(3;0.122)		123					Q5VTM0	Silent	SNP	ENST00000370862.3	37	c.369A>G	CCDS4956.1																																																																																				0.428	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
SYNE1	23345	broad.mit.edu	37	6	152652051	152652051	+	Missense_Mutation	SNP	T	T	C	rs199827801		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:152652051T>C	ENST00000367255.5	-	78	14370	c.13769A>G	c.(13768-13770)aAc>aGc	p.N4590S	SYNE1_ENST00000423061.1_Missense_Mutation_p.N4519S|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4337S|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4519S|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4590S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4590					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTCATTAGGTTGATTTCAGG	0.353										HNSCC(10;0.0054)			T|||	1	0.000199681	0.0	0.0	5008	,	,		22813	0.001		0.0	False		,,,				2504	0.0					uc021zhb.1																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(13768-13770)aAc>aGc		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.							173.0	178.0	177.0					6																	152652051		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152652051T>C	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.13769A>G	6.37:g.152652051T>C	ENSP00000356224:p.Asn4590Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.4_Missense_Mutation_p.N4519S|SYNE1_uc003qou.4_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.3_Missense_Mutation_p.N345S	p.N4590S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	75	13992	-		Ovarian(120;0.0955)	4590					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.13769A>G	CCDS5236.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	T	14.03	2.415275	0.42817	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.51071	1.44;1.44;1.44;1.44;0.72	5.93	3.54	0.40534	.	0.080125	0.52532	N	0.000066	T	0.45115	0.1326	M	0.66939	2.045	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	D;D;D;D	0.70935	0.971;0.931;0.931;0.969	T	0.50701	-0.8797	10	0.10636	T	0.68	.	10.1988	0.43071	0.0:0.1341:0.0:0.8659	.	4590;4590;4590;4519	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	S	4590;4519;4590;4519;4337	ENSP00000356224:N4590S;ENSP00000396024:N4519S;ENSP00000265368:N4590S;ENSP00000390975:N4519S;ENSP00000341887:N4337S	ENSP00000265368:N4590S	N	-	2	0	SYNE1	152693744	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.532000	0.53553	0.497000	0.27926	0.533000	0.62120	AAC		0.353	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
ADCYAP1R1	117	broad.mit.edu	37	7	31126052	31126052	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:31126052T>A	ENST00000304166.4	+	10	1013	c.724T>A	c.(724-726)Ttc>Atc	p.F242I	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.F221I|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.F242I|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.F242I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	242					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCCAACTACTTCTGGCTGTT	0.542																																					Ovarian(44;225 1186 2158 11092)	uc003tca.2																			0				endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						c.(724-726)Ttc>Atc		Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.							238.0	175.0	196.0					7																	31126052		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31126052T>A		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.724T>A	7.37:g.31126052T>A	ENSP00000306620:p.Phe242Ile					ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	p.F242I	NM_001118	NP_001109	P41586	PACR_HUMAN			9	1013	+			242					A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.724T>A	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.816302	0.70912	.	.	ENSG00000078549	ENST00000304166;ENST00000381667;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.47528	1.02;0.88;0.84;0.84	5.69	3.27	0.37495	GPCR, family 2-like (1);	0.047550	0.85682	D	0.000000	T	0.69708	0.3141	M	0.91406	3.205	0.58432	D	0.999996	D;D;D;D;D	0.89917	1.0;0.998;0.999;0.987;0.996	D;D;D;D;D	0.80764	0.994;0.978;0.988;0.926;0.969	T	0.68765	-0.5322	10	0.66056	D	0.02	.	6.3458	0.21349	0.1406:0.0777:0.0:0.7817	.	242;242;242;221;242	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	I	242;13;221;242;242	ENSP00000306620:F242I;ENSP00000387335:F221I;ENSP00000379514:F242I;ENSP00000386395:F242I	ENSP00000306620:F242I	F	+	1	0	ADCYAP1R1	31092577	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	6.139000	0.71728	0.409000	0.25649	-1.260000	0.01463	TTC		0.542	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118	
HECW1	23072	broad.mit.edu	37	7	43485123	43485123	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:43485123G>A	ENST00000395891.2	+	11	2957	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	HECW1_ENST00000453890.1_Silent_p.P784P	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGAAGCCCGGAAGGTCTGG	0.612																																						uc003tid.1																			0		p.L784I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(2350-2352)ccG>ccA		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							11.0	13.0	12.0					7																	43485123		1852	4022	5874	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485123G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2352G>A	7.37:g.43485123G>A						HECW1_uc011kbi.1_Silent_p.P784P	p.P784P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			10	2957	+			784					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2352G>A	CCDS5469.2																																																																																				0.612	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
GNAT3	346562	broad.mit.edu	37	7	80091827	80091827	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80091827G>A	ENST00000398291.3	-	6	804	c.711C>T	c.(709-711)gaC>gaT	p.D237D	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	237					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCACTTCTTCGTCTTCCACGA	0.408																																						uc011kgu.2																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(709-711)gaC>gaT		Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.							145.0	134.0	137.0					7																	80091827		1944	4167	6111	SO:0001819	synonymous_variant	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091827G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.711C>T	7.37:g.80091827G>A						CD36_uc003uhc.3_Intron	p.D237D	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			5	711	-			237					A4D1B2|A4D1B3|B9EJG5	Silent	SNP	ENST00000398291.3	37	c.711C>T	CCDS47625.1																																																																																				0.408	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370	
SEMA3C	10512	broad.mit.edu	37	7	80378254	80378254	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80378254A>G	ENST00000265361.3	-	17	2363	c.1802T>C	c.(1801-1803)aTc>aCc	p.I601T	SEMA3C_ENST00000544525.1_Missense_Mutation_p.I619T|SEMA3C_ENST00000419255.2_Missense_Mutation_p.I601T	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	601	Ig-like C2-type.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCACTTGATAGATGCCTG	0.453																																						uc011kgw.2																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(1855-1857)aTc>aCc		Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.							141.0	129.0	133.0					7																	80378254		2203	4300	6503	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80378254A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1802T>C	7.37:g.80378254A>G	ENSP00000265361:p.Ile601Thr					SEMA3C_uc003uhj.3_Missense_Mutation_p.I601T	p.I619T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			16	1935	-			601			Ig-like C2-type.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.1856T>C	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218952	0.79464	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525	T;T;T	0.72282	-0.64;-0.64;-0.64	5.38	5.38	0.77491	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195010	0.50627	D	0.000106	T	0.72078	0.3416	M	0.62209	1.925	0.80722	D	1	P;P	0.42337	0.735;0.776	B;B	0.43155	0.287;0.41	T	0.76410	-0.2969	10	0.72032	D	0.01	.	15.3914	0.74747	1.0:0.0:0.0:0.0	.	619;601	F5H1Z7;Q99985	.;SEM3C_HUMAN	T	601;601;619	ENSP00000265361:I601T;ENSP00000411193:I601T;ENSP00000445649:I619T	ENSP00000265361:I601T	I	-	2	0	SEMA3C	80216190	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.310000	0.96267	2.031000	0.59945	0.460000	0.39030	ATC		0.453	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	
CACNA2D1	781	broad.mit.edu	37	7	81635118	81635118	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:81635118G>C	ENST00000356253.5	-	17	1733	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.S493C|CACNA2D1_ENST00000464354.1_5'UTR			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	493	Cache.				calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATCTTCCAAAGACACATCTAC	0.328																																						uc003uhr.1																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(1477-1479)tCt>tGt		Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						121.0	115.0	117.0					7																	81635118		2203	4299	6502	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81635118G>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.1478C>G	7.37:g.81635118G>C	ENSP00000348589:p.Ser493Cys						p.S493C	NM_000722	NP_000713	P54289	CA2D1_HUMAN			16	1734	-			493			Cache.		Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.1478C>G		.	.	.	.	.	.	.	.	.	.	G	25.0	4.590222	0.86851	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253	T;T	0.07800	3.17;3.16	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.88031	2.925	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.37384	-0.9708	10	0.87932	D	0	-18.2335	18.9575	0.92664	0.0:0.0:1.0:0.0	.	493	P54289-2	.	C	493	ENSP00000349320:S493C;ENSP00000348589:S493C	ENSP00000284088:S493C	S	-	2	0	CACNA2D1	81473054	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	9.408000	0.97327	2.580000	0.87095	0.591000	0.81541	TCT		0.328	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
KEL	3792	broad.mit.edu	37	7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A	rs184131044	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:142658027G>A	ENST00000355265.2	-	4	862	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	130					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502													G|||	4	0.000798722	0.0	0.0	5008	,	,		19594	0.002		0.0	False		,,,				2504	0.002					uc003wcb.3																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	GRCh37	CM973369	KEL	M	rs184131044	c.(388-390)Cgg>Tgg		Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.							185.0	189.0	188.0					7																	142658027		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142658027G>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.388C>T	7.37:g.142658027G>A	ENSP00000347409:p.Arg130Trp						p.R130W	NM_000420	NP_000411	P23276	KELL_HUMAN			3	598	-	Melanoma(164;0.059)		130					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.388C>T	CCDS34766.1	3|3	0.0013736263736263737|0.0013736263736263737	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.875|5.875	0.345548|0.345548	0.11126|0.11126	.|.	.|.	ENSG00000197993|ENSG00000197993	ENST00000355265;ENST00000476829;ENST00000467543|ENST00000460479	T;T;T|.	0.77229|.	-1.08;-1.08;-1.08|.	5.84|5.84	1.87|1.87	0.25490|0.25490	Peptidase M13 (1);|.	0.616178|.	0.14380|.	N|.	0.323161|.	T|T	0.36166|0.36166	0.0957|0.0957	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	B|.	0.30236|.	0.274|.	B|.	0.28465|.	0.09|.	T|T	0.24440|0.24440	-1.0160|-1.0160	10|5	0.62326|.	D|.	0.03|.	-17.8298|-17.8298	6.7327|6.7327	0.23393|0.23393	0.0825:0.0:0.4634:0.4541|0.0825:0.0:0.4634:0.4541	.|.	130|.	P23276|.	KELL_HUMAN|.	W|L	130;130;111|140	ENSP00000347409:R130W;ENSP00000419889:R130W;ENSP00000420011:R111W|.	ENSP00000347409:R130W|.	R|S	-|-	1|2	2|0	KEL|KEL	142368149|142368149	0.004000|0.004000	0.15560|0.15560	0.003000|0.003000	0.11579|0.11579	0.050000|0.050000	0.14768|0.14768	0.366000|0.366000	0.20365|0.20365	0.056000|0.056000	0.16144|0.16144	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.502	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420	
ARHGEF10	9639	broad.mit.edu	37	8	1871955	1871955	+	Silent	SNP	G	G	A	rs528316967	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:1871955G>A	ENST00000398564.1	+	21	2478	c.2478G>A	c.(2476-2478)acG>acA	p.T826T	ARHGEF10_ENST00000520359.1_Silent_p.T763T|ARHGEF10_ENST00000262112.6_Silent_p.T826T|ARHGEF10_ENST00000518288.1_Silent_p.T825T|ARHGEF10_ENST00000349830.3_Silent_p.T801T			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	826					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCGACCGACGTTCTTTACAG	0.488													G|||	9	0.00179712	0.0	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0092					uc003wpr.3																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(2401-2403)acG>acA		Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.							145.0	116.0	126.0					8																	1871955		2203	4300	6503	SO:0001819	synonymous_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1871955G>A	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.2478G>A	8.37:g.1871955G>A						ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.3_Silent_p.T763T|ARHGEF10_uc003wpv.3_Silent_p.T534T|ARHGEF10_uc010lre.3_Silent_p.T481T	p.T801T	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	20	2581	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	826					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Silent	SNP	ENST00000398564.1	37	c.2403G>A																																																																																					0.488	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding			
WRN	7486	broad.mit.edu	37	8	30977768	30977768	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:30977768G>C	ENST00000298139.5	+	21	2707	c.2458G>C	c.(2458-2460)Gct>Cct	p.A820P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	820	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTGTGTCATAGCTACCATAGC	0.353			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.4			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(2458-2460)Gct>Cct	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.							182.0	173.0	176.0					8																	30977768		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30977768G>C		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.2458G>C	8.37:g.30977768G>C	ENSP00000298139:p.Ala820Pro					WRN_uc010lvk.3_Missense_Mutation_p.A287P	p.A820P	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	20	3246	+		Breast(100;0.195)	820			Helicase C-terminal.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.2458G>C	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.878325	0.91740	.	.	ENSG00000165392	ENST00000298139	T	0.09163	3.01	5.76	5.76	0.90799	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	H	0.99838	4.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79235	-0.1887	10	0.87932	D	0	-16.0929	19.9192	0.97079	0.0:0.0:1.0:0.0	.	230;820	Q59F09;Q14191	.;WRN_HUMAN	P	820	ENSP00000298139:A820P	ENSP00000298139:A820P	A	+	1	0	WRN	31097310	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	8.146000	0.89626	2.882000	0.98803	0.655000	0.94253	GCT		0.353	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1		
SDC2	6383	broad.mit.edu	37	8	97614730	97614730	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:97614730C>G	ENST00000302190.4	+	3	1201	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	SDC2_ENST00000518385.1_Missense_Mutation_p.Q58E|SDC2_ENST00000519914.1_Missense_Mutation_p.Q65E|SDC2_ENST00000522911.1_Missense_Mutation_p.Q65E	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	94					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTGAATATACAGAACAAGAT	0.423																																						uc003yhv.1																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(280-282)Cag>Gag		Homo sapiens syndecan 2 (SDC2), mRNA.	Sargramostim(DB00020)						138.0	126.0	130.0					8																	97614730		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97614730C>G	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.280C>G	8.37:g.97614730C>G	ENSP00000307046:p.Gln94Glu					SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	p.Q94E	NM_002998	NP_002989	P34741	SDC2_HUMAN			2	898	+	Breast(36;3.41e-05)		94					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.280C>G	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.113384	0.37339	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914;ENST00000521590;ENST00000523877	T;T;T;T;T	0.29655	1.56;1.57;1.58;1.58;1.56	5.32	5.32	0.75619	.	0.323049	0.29522	N	0.011919	T	0.33000	0.0848	L	0.56769	1.78	0.39782	D	0.972318	B	0.23735	0.09	B	0.33846	0.171	T	0.16958	-1.0385	10	0.02654	T	1	-4.4401	17.5352	0.87829	0.0:1.0:0.0:0.0	.	94	P34741	SDC2_HUMAN	E	94;58;94;84;65;65;65;65	ENSP00000307046:Q94E;ENSP00000429045:Q58E;ENSP00000427784:Q65E;ENSP00000428256:Q65E;ENSP00000429121:Q65E	ENSP00000307046:Q94E	Q	+	1	0	SDC2	97683906	0.997000	0.39634	0.079000	0.20413	0.969000	0.65631	4.607000	0.61133	2.662000	0.90505	0.655000	0.94253	CAG		0.423	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998	
RGS22	26166	broad.mit.edu	37	8	101059740	101059740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:101059740G>A	ENST00000360863.6	-	11	1968	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	RGS22_ENST00000523287.1_Missense_Mutation_p.R411W|RGS22_ENST00000523437.1_Missense_Mutation_p.R580W	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	592					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R592W(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAAGCTCCCGCTTCCAAGGC	0.383																																						uc003yjb.1																		RGS22/SYCP1(2)	2	Substitution - Missense(2)	p.R592W(3)	endometrium(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1774-1776)Cgg>Tgg		Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.							116.0	107.0	110.0					8																	101059740		1821	4082	5903	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101059740G>A	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1774C>T	8.37:g.101059740G>A	ENSP00000354109:p.Arg592Trp					RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R496W	p.R592W	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		10	1969	-			592					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1774C>T	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275907	0.80580	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.32753	1.44;1.44;1.44	4.04	0.161	0.14977	.	0.786759	0.11759	N	0.532312	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	P;P;D	0.60575	0.937;0.937;0.988	P;P;P	0.50049	0.522;0.522;0.629	T	0.11275	-1.0594	10	0.66056	D	0.02	.	4.0854	0.09945	0.0:0.2015:0.3588:0.4396	.	580;592;411	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	W	592;580;411;580	ENSP00000354109:R592W;ENSP00000429382:R411W;ENSP00000428212:R580W	ENSP00000354109:R592W	R	-	1	2	RGS22	101128916	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.689000	0.25437	-0.210000	0.10140	-0.494000	0.04653	CGG		0.383	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
FAM83A	84985	broad.mit.edu	37	8	124206323	124206323	+	Silent	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:124206323C>T	ENST00000518448.1	+	4	2722	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FAM83A_ENST00000276699.6_Silent_p.F236F|FAM83A_ENST00000522648.1_Silent_p.F180F|FAM83A_ENST00000536633.1_Silent_p.F236F|FAM83A_ENST00000318462.6_Silent_p.F236F|FAM83A_ENST00000546351.1_Silent_p.F180F			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGGAAATTCGCTGGCCAAA	0.473																																						uc003ypv.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17						c.(706-708)ttC>ttT		Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.							138.0	116.0	123.0					8																	124206323		2203	4300	6503	SO:0001819	synonymous_variant	84985							g.chr8:124206323C>T	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.708C>T	8.37:g.124206323C>T						FAM83A_uc003ypw.3_Silent_p.F236F|FAM83A_uc003ypx.3_Silent_p.F236F|FAM83A_uc003ypy.3_Silent_p.F180F|FAM83A_uc003ypz.3_Silent_p.F236F	p.F236F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2722	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		236					Q71HL2|Q8N7I1|Q96I47	Silent	SNP	ENST00000518448.1	37	c.708C>T	CCDS6340.1																																																																																				0.473	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899	
RP11-498P14.3	0	broad.mit.edu	37	9	99961445	99961445	+	lincRNA	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:99961445G>A	ENST00000416066.1	-	0	0																											GTTCTCTGATGTCCTGAAAGC	0.408																																						uc004axd.2																			0											c.(349-351)Cat>Tat		Homo sapiens zinc finger protein 322 (ZNF322), transcript variant 2, mRNA.							162.0	164.0	163.0					9																	99961445		2201	4298	6499			387328				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr9:99961445G>A																													9.37:g.99961445G>A						BC070371_uc004axb.2_5'Flank|BC070371_uc004axc.1_5'Flank|AK309476_uc010msl.1_Intron	p.H117Y	NM_024639	NP_078915	Q6U7Q0	Z322A_HUMAN			0	408	-			117						Missense_Mutation	SNP	ENST00000416066.1	37	c.349C>T		.	.	.	.	.	.	.	.	.	.	N	2.474	-0.321132	0.05386	.	.	ENSG00000188801	ENST00000375210	.	.	.	.	.	.	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000521	T	0.62672	0.2447	.	.	.	0.32029	N	0.599825	D	0.61697	0.99	D	0.68943	0.961	T	0.66156	-0.5994	5	.	.	.	-13.9166	5.8178	0.18506	0.001:0.0:0.999:0.0	.	117	Q5SYY0	Z322B_HUMAN	Y	117	.	.	H	-	1	0	ZNF322P1	99001266	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.679000	0.61649	-0.000000	0.14550	0.000000	0.15137	CAT		0.408	RP11-498P14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000053307.1		
OR13C8	138802	broad.mit.edu	37	9	107332231	107332231	+	Silent	SNP	G	G	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:107332231G>A	ENST00000335040.1	+	1	783	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTACGCAAAGCCTGAGTCTA	0.453																																						uc011lvo.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						c.(781-783)aaG>aaA		Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.							111.0	97.0	102.0					9																	107332231		2203	4300	6503	SO:0001819	synonymous_variant	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107332231G>A		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.783G>A	9.37:g.107332231G>A							p.K261K	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			0	783	+			261					Q5VVG0|Q96R44	Silent	SNP	ENST00000335040.1	37	c.783G>A	CCDS35090.1																																																																																				0.453	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
PIR	8544	broad.mit.edu	37	X	15509315	15509315	+	Silent	SNP	C	C	T	rs370522973		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:15509315C>T	ENST00000380421.3	-	2	526	c.66G>A	c.(64-66)gcG>gcA	p.A22A	BMX_ENST00000357607.2_Intron|PIR_ENST00000380420.5_Silent_p.A22A|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	22					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522																																					Ovarian(180;1587 2015 10555 34192 51653)	uc004cwu.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(64-66)gcG>gcA		Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.		C	,	1,3834		0,0,1,1632,570	159.0	144.0	149.0		66,66	-11.1	0.0	X		149	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	PIR	NM_001018109.2,NM_003662.3	,	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	,	22/291,22/291	15509315	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8544				transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity	g.chrX:15509315C>T	Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.66G>A	X.37:g.15509315C>T						FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.A22A|BMX_uc004cww.3_Intron	p.A22A	NM_003662	NP_003653	O00625	PIR_HUMAN			1	551	-	Hepatocellular(33;0.183)		22					Q5U0G0|Q6FHD2	Silent	SNP	ENST00000380421.3	37	c.66G>A	CCDS14167.1																																																																																				0.522	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055863.1	NM_003662	
KLHL34	257240	broad.mit.edu	37	X	21675201	21675201	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:21675201C>T	ENST00000379499.2	-	1	1247	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	236	BACK.					extracellular space (GO:0005615)		p.V236M(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGAGTACACGCGCCGCAGT	0.667																																						uc004czz.1																			1	Substitution - Missense(1)	p.V236M(2)	endometrium(1)	cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(706-708)Gtg>Atg		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							18.0	17.0	17.0					X																	21675201		2200	4291	6491	SO:0001583	missense	257240							g.chrX:21675201C>T	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.706G>A	X.37:g.21675201C>T	ENSP00000368813:p.Val236Met						p.V236M	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1248	-			236			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.706G>A	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	3.828	-0.036284	0.07497	.	.	ENSG00000185915	ENST00000379499	T	0.69685	-0.42	4.65	1.83	0.25207	BTB/Kelch-associated (2);	0.338406	0.27966	N	0.017137	T	0.49795	0.1578	L	0.36672	1.1	0.09310	N	1	B	0.17667	0.023	B	0.11329	0.006	T	0.39820	-0.9595	10	0.49607	T	0.09	.	4.4061	0.11409	0.0:0.3588:0.1668:0.4745	.	236	Q8N239	KLH34_HUMAN	M	236	ENSP00000368813:V236M	ENSP00000368813:V236M	V	-	1	0	KLHL34	21585122	0.024000	0.19004	0.995000	0.50966	0.317000	0.28152	0.118000	0.15605	0.061000	0.16311	0.422000	0.28245	GTG		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
FAM47B	170062	broad.mit.edu	37	X	34962438	34962438	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:34962438A>T	ENST00000329357.5	+	1	1526	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	497										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACCAAAAGATTAAGAAG	0.468																																						uc004ddi.2																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(1489-1491)aAg>aTg		Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.							113.0	104.0	107.0					X																	34962438		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34962438A>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1490A>T	X.37:g.34962438A>T	ENSP00000328307:p.Lys497Met						p.K497M	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			0	1526	+			497					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.1490A>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	A	10.13	1.265173	0.23136	.	.	ENSG00000189132	ENST00000329357	T	0.44482	0.92	0.235	0.235	0.15431	.	.	.	.	.	T	0.48095	0.1481	M	0.65975	2.015	0.09310	N	1	D	0.59767	0.986	P	0.53360	0.724	T	0.35425	-0.9789	8	0.49607	T	0.09	.	.	.	.	.	497	Q8NA70	FA47B_HUMAN	M	497	ENSP00000328307:K497M	ENSP00000328307:K497M	K	+	2	0	FAM47B	34872359	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.543000	0.23237	0.245000	0.21373	0.242000	0.17961	AAG		0.468	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
HYPM	25763	broad.mit.edu	37	X	37850145	37850145	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:37850145A>T	ENST00000341016.3	+	1	76	c.53A>T	c.(52-54)cAa>cTa	p.Q18L	TM4SF2_ENST00000465127.1_Intron	NM_012274.1	NP_036406.1	O75409	HYPM_HUMAN		18										central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AACCAGACTCAAGACCCTTCT	0.458																																						uc004ddt.4																			0				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						c.(52-54)cAa>cTa		Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.							69.0	61.0	64.0					X																	37850145		1923	4130	6053	SO:0001583	missense	25763						DNA binding	g.chrX:37850145A>T																												ENST00000341016.3:c.53A>T	X.37:g.37850145A>T	ENSP00000339511:p.Gln18Leu						p.Q18L	NM_012274	NP_036406	O75409	HYPM_HUMAN			0	76	+			18					A1A4D3	Missense_Mutation	SNP	ENST00000341016.3	37	c.53A>T	CCDS43929.1	.	.	.	.	.	.	.	.	.	.	A	13.47	2.245371	0.39697	.	.	ENSG00000187516	ENST00000341016	T	0.42131	0.98	2.84	-1.52	0.08637	Histone-fold (2);	.	.	.	.	T	0.22551	0.0544	L	0.27053	0.805	0.09310	N	1	B	0.24576	0.106	B	0.20184	0.028	T	0.19647	-1.0299	9	0.23302	T	0.38	.	3.47	0.07563	0.5573:0.1762:0.0:0.2664	.	18	O75409	HYPM_HUMAN	L	18	ENSP00000339511:Q18L	ENSP00000339511:Q18L	Q	+	2	0	CXorf27	37735089	0.009000	0.17119	0.000000	0.03702	0.004000	0.04260	0.000000	0.12993	-0.417000	0.07461	0.486000	0.48141	CAA		0.458	CXorf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080888.1		
BCOR	54880	broad.mit.edu	37	X	39921626	39921626	+	Silent	SNP	T	T	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:39921626T>C	ENST00000378444.4	-	10	4422	c.4194A>G	c.(4192-4194)agA>agG	p.R1398R	BCOR_ENST00000378463.1_Silent_p.R241R|BCOR_ENST00000397354.3_Silent_p.R1364R|BCOR_ENST00000378455.4_Silent_p.R1346R|BCOR_ENST00000342274.4_Silent_p.R1364R	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1398					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGCCGCTTTCTGAATCTCC	0.587			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(4192-4194)agA>agG		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							51.0	38.0	42.0					X																	39921626		2202	4299	6501	SO:0001819	synonymous_variant	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39921626T>C	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.4194A>G	X.37:g.39921626T>C						BCOR_uc004dep.4_Silent_p.R1364R|BCOR_uc004deo.4_Silent_p.R1346R|BCOR_uc010nhb.3_Silent_p.R106R|BCOR_uc004dem.4_Silent_p.R1364R	p.R1398R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			9	4486	-			1398					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	ENST00000378444.4	37	c.4194A>G	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192444	0.21954	.	.	ENSG00000183337	ENST00000427012	.	.	.	5.71	-3.19	0.05171	.	.	.	.	.	T	0.50582	0.1624	.	.	.	0.39755	D	0.97194	.	.	.	.	.	.	T	0.48399	-0.9039	4	.	.	.	-13.502	7.3724	0.26808	0.0:0.4436:0.2448:0.3116	.	.	.	.	G	93	.	.	E	-	2	0	BCOR	39806570	0.011000	0.17503	0.060000	0.19600	0.918000	0.54935	-1.649000	0.01993	-0.564000	0.06070	0.486000	0.48141	GAA		0.587	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
SSX6	280657	broad.mit.edu	37	X	47970738	47970738	+	IGR	SNP	G	G	T			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:47970738G>T								snoU13 (29499 upstream) : SSX6 (5727 downstream)																							GTGGGAATGAGGGTGAGTAGA	0.483																																						uc011mlv.2																			0											c.e4+1		Homo sapiens putative protein SSX6-like (LOC100509575), mRNA.							96.0	74.0	82.0					X																	47970738		2192	4286	6478	SO:0001628	intergenic_variant	280657				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding	g.chrX:47970738G>T																													X.37:g.47970738G>T						LOC100509575_uc022bvt.1_Splice_Site	p.V94_splice	NM_001205103	NP_001192032	B7Z813	B7Z813_HUMAN			4	352	+			94						Missense_Mutation	SNP		37	c.280_splice		.	.	.	.	.	.	.	.	.	.	.	6.975	0.549940	0.13374	.	.	ENSG00000171483	ENST00000376932	T	0.08282	3.11	2.47	-1.86	0.07760	.	1.615220	0.04248	N	0.338129	T	0.05960	0.0155	.	.	.	0.22292	N	0.999227	P;P	0.35872	0.525;0.474	B;B	0.36092	0.217;0.103	T	0.26608	-1.0098	9	0.33141	T	0.24	.	2.6727	0.05071	0.4658:0.0:0.3129:0.2214	.	93;93	B7Z813;Q7RTT6	.;SSX6_HUMAN	D	93	ENSP00000366131:E93D	ENSP00000366131:E93D	E	+	3	2	SSX6	47855682	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.203000	0.09438	-0.677000	0.05231	0.411000	0.27672	GAG	0	0.483								
DGKK	139189	broad.mit.edu	37	X	50134485	50134485	+	RNA	SNP	A	A	C			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:50134485A>C	ENST00000376025.2	-	0	1853							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGATGTCCAGAGGTGACTTGC	0.537																																						uc010njr.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1792-1794)ccT>ccG		Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.							182.0	165.0	171.0					X																	50134485		2057	4175	6232			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50134485A>C	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50134485A>C							p.P598P	NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN			10	1838	-	Ovarian(276;0.236)		598			DAGKc.		B2RP91	Silent	SNP	ENST00000376025.2	37	c.1794T>G																																																																																					0.537	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742	
NAP1L2	4674	broad.mit.edu	37	X	72433530	72433530	+	Nonsense_Mutation	SNP	T	T	A			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:72433530T>A	ENST00000373517.3	-	1	1154	c.799A>T	c.(799-801)Aag>Tag	p.K267*	NAP1L2_ENST00000536638.1_Nonsense_Mutation_p.K125*	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	267					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAGGAGCTTCAGAATAGGC	0.368																																						uc004ebi.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(799-801)Aag>Tag		Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.							44.0	42.0	42.0					X																	72433530		2202	4300	6502	SO:0001587	stop_gained	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433530T>A	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.799A>T	X.37:g.72433530T>A	ENSP00000362616:p.Lys267*						p.K267*	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			0	1181	-	Renal(35;0.156)		267					B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	c.799A>T	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	t	39	7.342596	0.98224	.	.	ENSG00000186462	ENST00000373517;ENST00000536638	.	.	.	3.65	3.65	0.41850	.	0.051469	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7291	9.9521	0.41645	0.0:0.0:0.0:1.0	.	.	.	.	X	267;125	.	ENSP00000362616:K267X	K	-	1	0	NAP1L2	72350255	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.516000	0.53436	1.411000	0.46957	0.339000	0.21740	AAG		0.368	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963	
PCDH11X	27328	broad.mit.edu	37	X	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	rs62621113		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:91132696C>T	ENST00000373094.1	+	2	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_ENST00000361724.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T486M|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T486M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T486M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T486M	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	486	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1456-1458)aCg>aTg		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							99.0	82.0	88.0					X																	91132696		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132696C>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1457C>T	X.37:g.91132696C>T	ENSP00000362186:p.Thr486Met					PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	2302	+			486			Cadherin 5.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1457C>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873758	0.17322	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.38	5.38	0.77491	Cadherin (4);Cadherin-like (1);	0.049108	0.85682	D	0.000000	T	0.60379	0.2264	L	0.41906	1.305	0.51012	D	0.999908	D;D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.80764	0.975;0.967;0.99;0.99;0.99;0.994;0.958;0.958	T	0.57365	-0.7824	10	0.34782	T	0.22	.	17.0331	0.86466	0.0:1.0:0.0:0.0	rs62621113	486;486;486;486;486;486;486;486	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	M	486	ENSP00000378746:T486M;ENSP00000362186:T486M;ENSP00000362189:T486M;ENSP00000355040:T486M;ENSP00000362180:T486M;ENSP00000423762:T486M;ENSP00000355105:T486M;ENSP00000384758:T486M;ENSP00000298274:T486M	ENSP00000298274:T486M	T	+	2	0	PCDH11X	91019352	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	5.760000	0.68793	2.231000	0.72958	0.544000	0.68410	ACG		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
TMEM255A	55026	broad.mit.edu	37	X	119410875	119410875	+	Silent	SNP	G	G	A	rs372830851		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:119410875G>A	ENST00000309720.5	-	8	735	c.612C>T	c.(610-612)taC>taT	p.Y204Y	TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Silent_p.Y40Y|TMEM255A_ENST00000371369.4_Silent_p.Y180Y	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	204						integral component of membrane (GO:0016021)											CGATGTATTCGTAGTACCCAC	0.582																																						uc004eso.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						c.(610-612)taC>taT		Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.		G	,,	1,3834		0,1,1631,571	233.0	171.0	192.0		540,,612	-2.7	0.9	X		192	0,6728		0,0,2428,1872	no	coding-synonymous,intron,coding-synonymous	FAM70A	NM_001104544.1,NM_001104545.1,NM_017938.3	,,	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	,,	180/326,,204/350	119410875	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	55026					integral to membrane		g.chrX:119410875G>A	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.612C>T	X.37:g.119410875G>A						FAM70A_uc004esp.4_Silent_p.Y180Y|FAM70A_uc010nqo.3_Intron	p.Y204Y	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN			7	839	-			204					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Silent	SNP	ENST00000309720.5	37	c.612C>T	CCDS14597.1																																																																																				0.582	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	NM_017938	
