#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
CFAP74	85452	broad.mit.edu	37	1	1900265	1900265	+	IGR	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:1900265C>G								TMEM52 (49553 upstream) : C1orf222 (19297 downstream)																							TGCTCCTCCTCAAAGGCCCTG	0.597																																						uc001aim.1																			0				breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32						c.(1054-1056)Gag>Cag		Homo sapiens KIAA1751 (KIAA1751), mRNA.							91.0	94.0	93.0					1																	1900265		2011	4178	6189	SO:0001628	intergenic_variant	85452							g.chr1:1900265C>G																													1.37:g.1900265C>G						KIAA1751_uc009vkz.1_Missense_Mutation_p.E352Q	p.E352Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1210	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	352						Missense_Mutation	SNP		37	c.1054G>C		.	.	.	.	.	.	.	.	.	.	c	16.45	3.125475	0.56721	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.67	1.7	0.24286	.	0.787356	0.11081	N	0.601867	T	0.66723	0.2818	M	0.68952	2.095	0.80722	D	1	D;D	0.59767	0.986;0.972	P;P	0.60886	0.88;0.797	T	0.60311	-0.7288	9	0.37606	T	0.19	-18.4903	7.1595	0.25657	0.0:0.722:0.1739:0.1041	.	352;352	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	Q	352	.	ENSP00000270720:E352Q	E	-	1	0	C1orf222	1890125	0.746000	0.28272	0.864000	0.33941	0.855000	0.48748	0.450000	0.21762	0.292000	0.22492	0.556000	0.70494	GAG	0	0.597								
MMEL1	79258	broad.mit.edu	37	1	2527458	2527458	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:2527458G>A	ENST00000378412.3	-	15	1651	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	MMEL1_ENST00000288709.6_Missense_Mutation_p.A488V|MMEL1_ENST00000502556.1_Missense_Mutation_p.A340V			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	497						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTTCTCCTGCGCCTTCTTCTT	0.632																																						uc001ajy.2																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(1489-1491)gCg>gTg		Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.							221.0	180.0	194.0					1																	2527458		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2527458G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.1490C>T	1.37:g.2527458G>A	ENSP00000367668:p.Ala497Val					MMEL1_uc009vlg.1_Non-coding_Transcript	p.A497V	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	14	1704	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	497					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.1490C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621321	0.87460	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.83837	-1.77;-1.77;-1.77	5.25	5.25	0.73442	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92909	0.7744	M	0.91459	3.21	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.94227	0.7473	10	0.87932	D	0	-34.9491	17.7647	0.88475	0.0:0.0:1.0:0.0	.	497	Q495T6	MMEL1_HUMAN	V	340;488;497;340	ENSP00000288709:A488V;ENSP00000367668:A497V;ENSP00000422492:A340V	ENSP00000288709:A488V	A	-	2	0	MMEL1	2517318	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	9.481000	0.97933	2.606000	0.88127	0.655000	0.94253	GCG		0.632	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
KLHDC7A	127707	broad.mit.edu	37	1	18809060	18809060	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:18809060G>A	ENST00000400664.1	+	1	1637	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	529						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGAGGCCGTGTCCCGGGG	0.662																																						uc001bax.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(1585-1587)Gtg>Atg		Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.							37.0	46.0	43.0					1																	18809060		2195	4288	6483	SO:0001583	missense	127707					integral to membrane		g.chr1:18809060G>A	AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.1585G>A	1.37:g.18809060G>A	ENSP00000383505:p.Val529Met					KLHDC7A_uc009vpg.3_Missense_Mutation_p.V311M	p.V529M	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	0	1637	+		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)	529					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.1585G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694031	0.30052	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.66460	-0.21	5.41	3.16	0.36331	Kelch-type beta propeller (1);	0.239529	0.33772	N	0.004578	T	0.43875	0.1267	N	0.17082	0.46	0.22796	N	0.998722	P;P	0.37731	0.607;0.607	B;B	0.28991	0.097;0.066	T	0.33214	-0.9877	10	0.35671	T	0.21	.	11.1935	0.48698	0.1859:0.0:0.8141:0.0	.	466;529	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	529;466	ENSP00000383505:V529M	ENSP00000383505:V529M	V	+	1	0	KLHDC7A	18681647	0.681000	0.27614	0.939000	0.37840	0.974000	0.67602	1.109000	0.31135	1.251000	0.43983	0.561000	0.74099	GTG		0.662	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375	
TXLNA	200081	broad.mit.edu	37	1	32650218	32650218	+	Splice_Site	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:32650218G>A	ENST00000373609.1	+	3	878		c.e3+1		TXLNA_ENST00000373610.3_Splice_Site			P40222	TXLNA_HUMAN	taxilin alpha						B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCTGAACTGGTCAGTTCCCC	0.537																																						uc001bui.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.e4+1		Homo sapiens taxilin alpha (TXLNA), mRNA.							128.0	119.0	122.0					1																	32650218		2203	4300	6503	SO:0001630	splice_region_variant	200081				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	g.chr1:32650218G>A	AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.597+1G>A	1.37:g.32650218G>A						TXLNA_uc001buj.3_Splice_Site_p.L199_splice	p.L199_splice	NM_175852	NP_787048	P40222	TXLNA_HUMAN			4	662	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	199					D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Splice_Site	SNP	ENST00000373609.1	37	c.597_splice	CCDS353.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053540	0.93793	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6348	0.91372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TXLNA	32422805	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.829000	0.99411	2.777000	0.95525	0.579000	0.79373	.		0.537	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1	NM_175852	Intron
EPHA10	284656	broad.mit.edu	37	1	38227170	38227170	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:38227170G>A	ENST00000373048.4	-	3	756	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	EPHA10_ENST00000427468.2_Missense_Mutation_p.R253C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R253C	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	253					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTGCATGCGTGGGGGGCTG	0.692																																						uc009vvi.3																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(757-759)Cgc>Tgc		Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.							20.0	22.0	21.0					1																	38227170		2186	4256	6442	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227170G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.757C>T	1.37:g.38227170G>A	ENSP00000362139:p.Arg253Cys					EPHA10_uc001cbw.4_Missense_Mutation_p.R253C	p.R253C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			2	843	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	253					A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.757C>T	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102161	0.76983	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.77098	-1.07;-1.06;4.32	4.4	4.4	0.53042	.	0.000000	0.42294	D	0.000722	D	0.88764	0.6525	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.973	D	0.90855	0.4734	10	0.87932	D	0	.	16.4796	0.84155	0.0:0.0:1.0:0.0	.	253;253	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	C	253	ENSP00000397746:R253C;ENSP00000362139:R253C;ENSP00000316395:R253C	ENSP00000316395:R253C	R	-	1	0	EPHA10	37999757	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.358000	0.66064	2.411000	0.81874	0.551000	0.68910	CGC		0.692	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641	
MACF1	23499	broad.mit.edu	37	1	39913453	39913453	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:39913453G>A	ENST00000372915.3	+	81	19635	c.19548G>A	c.(19546-19548)caG>caA	p.Q6516Q	MACF1_ENST00000361689.2_Silent_p.Q4558Q|MACF1_ENST00000567887.1_Silent_p.Q6654Q|MACF1_ENST00000539005.1_Silent_p.Q4428Q|MACF1_ENST00000564288.1_Silent_p.Q6617Q|MACF1_ENST00000317713.7_Silent_p.Q4558Q|MACF1_ENST00000545844.1_Silent_p.Q4558Q|MACF1_ENST00000289893.4_Silent_p.Q5060Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6516					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAAAAGCAGGATGTTGTTC	0.438																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15178-15180)caG>caA		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							120.0	117.0	118.0					1																	39913453		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39913453G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19548G>A	1.37:g.39913453G>A						MACF1_uc021ols.1_Silent_p.Q4555Q|MACF1_uc021olt.1_Silent_p.Q4558Q	p.Q5060Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		46	15180	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6626					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.15180G>A		.	.	.	.	.	.	.	.	.	.	G	7.923	0.738916	0.15642	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.08	4.21	0.49690	.	.	.	.	.	T	0.60741	0.2292	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59080	-0.7521	4	.	.	.	.	10.2784	0.43523	0.2561:0.0:0.7439:0.0	.	.	.	.	R	3562	.	.	G	+	1	0	MACF1	39686040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.892000	0.39748	1.594000	0.50039	0.655000	0.94253	GGA		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
SPAG17	200162	broad.mit.edu	37	1	118548128	118548128	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:118548128T>C	ENST00000336338.5	-	32	4750	c.4685A>G	c.(4684-4686)aAg>aGg	p.K1562R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1562						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K1562R(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCACGCTTTTGAAAAGG	0.448																																						uc001ehk.2																			1	Substitution - Missense(1)	p.K1562R(2)	lung(1)	NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(4684-4686)aAg>aGg		Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.							121.0	117.0	119.0					1																	118548128		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548128T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4685A>G	1.37:g.118548128T>C	ENSP00000337804:p.Lys1562Arg					SPAG17_uc021osr.1_Missense_Mutation_p.K72R	p.K1562R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	31	4753	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1562					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4685A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502968	0.26949	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19806	2.12	5.72	3.37	0.38596	.	0.569182	0.19678	N	0.108579	T	0.05960	0.0155	L	0.41236	1.265	0.09310	N	1	B	0.28850	0.225	B	0.28849	0.095	T	0.23726	-1.0180	10	0.56958	D	0.05	.	4.2127	0.10519	0.1543:0.1525:0.0:0.6933	.	1562	Q6Q759	SPG17_HUMAN	R	1562;42	ENSP00000337804:K1562R	ENSP00000337804:K1562R	K	-	2	0	SPAG17	118349651	0.002000	0.14202	0.784000	0.31847	0.204000	0.24138	0.971000	0.29396	0.952000	0.37798	0.533000	0.62120	AAG		0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
HAO2	51179	broad.mit.edu	37	1	119925581	119925581	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:119925581G>T	ENST00000325945.3	+	3	248	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	HAO2_ENST00000361035.4_Missense_Mutation_p.D72Y	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	59	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCTGAGGTGGACACCAGAAC	0.552																																						uc001ehr.1																			0		p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(175-177)Gac>Tac		Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.							117.0	91.0	100.0					1																	119925581		2203	4300	6503	SO:0001583	missense	51179				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	g.chr1:119925581G>T	AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.175G>T	1.37:g.119925581G>T	ENSP00000316339:p.Asp59Tyr					HAO2_uc001ehq.1_Missense_Mutation_p.D59Y	p.D59Y	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)	2	307	+	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)	59			FMN hydroxy acid dehydrogenase.		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	ENST00000325945.3	37	c.175G>T	CCDS901.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447580	0.84101	.	.	ENSG00000116882	ENST00000457318;ENST00000361035;ENST00000325945	T;T;T	0.39997	1.05;1.05;1.05	5.64	5.64	0.86602	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82816	-0.0270	9	.	.	.	-27.7396	13.9224	0.63940	0.0726:0.0:0.9274:0.0	.	59	Q9NYQ3	HAOX2_HUMAN	Y	59;72;59	ENSP00000393955:D59Y;ENSP00000354314:D72Y;ENSP00000316339:D59Y	.	D	+	1	0	HAO2	119727104	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.486000	0.81215	2.660000	0.90430	0.655000	0.94253	GAC		0.552	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034984.1	NM_001005783	
ZNF697	90874	broad.mit.edu	37	1	120165681	120165681	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120165681G>A	ENST00000421812.2	-	3	1404	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	429					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAGTGCGTGCGCTTGTGCGTG	0.667																																						uc001ehy.1																			0				ovary(2)	2						c.(1285-1287)Cgc>Tgc		Homo sapiens zinc finger protein 697 (ZNF697), mRNA.							15.0	17.0	16.0					1																	120165681		2191	4292	6483	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120165681G>A	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.1285C>T	1.37:g.120165681G>A	ENSP00000396857:p.Arg429Cys						p.R429C	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	2	1399	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	429					Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.1285C>T	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041284	0.35989	.	.	ENSG00000143067	ENST00000421812	T	0.25749	1.78	4.98	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37053	N	0.002276	T	0.48732	0.1516	M	0.91140	3.18	0.50039	D	0.999843	D	0.89917	1.0	D	0.79784	0.993	T	0.62402	-0.6862	10	0.87932	D	0	-24.5497	12.7507	0.57306	0.0:0.0:0.8342:0.1658	.	429	Q5TEC3	ZN697_HUMAN	C	429	ENSP00000396857:R429C	ENSP00000396857:R429C	R	-	1	0	ZNF697	119967204	0.671000	0.27521	1.000000	0.80357	0.031000	0.12232	2.165000	0.42396	1.228000	0.43614	-0.311000	0.09066	CGC		0.667	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3	XM_371286	
NOTCH2	4853	broad.mit.edu	37	1	120512133	120512133	+	Splice_Site	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120512133C>T	ENST00000256646.2	-	6	1328		c.e6+1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTACCTACCTGCCTTCCC	0.537			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.3				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.e6+1		Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.							80.0	58.0	66.0					1																	120512133		2203	4300	6503	SO:0001630	splice_region_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120512133C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.1108+1G>A	1.37:g.120512133C>T						NOTCH2_uc001eil.3_Splice_Site_p.G370_splice|NOTCH2_uc021osy.1_Splice_Site_p.G331_splice|NOTCH2_uc001eim.4_Splice_Site_p.G287_splice	p.G370_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	1405	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	370			EGF-like 9; calcium-binding (Potential).		Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	ENST00000256646.2	37	c.1108_splice	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026754	0.93518	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8677	0.92300	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120313656	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.487000	0.81328	2.703000	0.92315	0.650000	0.86243	.		0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	Intron
BCL9	607	broad.mit.edu	37	1	147091673	147091673	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:147091673C>G	ENST00000234739.3	+	8	2452	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	571	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)		p.S571F(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGATAAACTCTGAAATGGAA	0.547			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		1	Substitution - Missense(1)	p.S571F(1)	skin(1)	breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1711-1713)tCt>tGt		Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.							77.0	84.0	82.0					1																	147091673		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091673C>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1712C>G	1.37:g.147091673C>G	ENSP00000234739:p.Ser571Cys					BCL9_uc010ozr.1_Missense_Mutation_p.S497C	p.S571C	NM_004326	NP_004317	O00512	BCL9_HUMAN			7	2452	+	all_hematologic(923;0.115)		571			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1712C>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123536	0.37436	.	.	ENSG00000116128	ENST00000234739	T	0.49139	0.79	5.41	5.41	0.78517	.	0.050384	0.85682	D	0.000000	T	0.23846	0.0577	N	0.14661	0.345	0.41118	D	0.985798	P;P	0.51653	0.947;0.947	B;B	0.40101	0.319;0.319	T	0.13899	-1.0492	10	0.62326	D	0.03	-17.3139	19.3785	0.94521	0.0:1.0:0.0:0.0	.	571;571	Q1JQ81;O00512	.;BCL9_HUMAN	C	571	ENSP00000234739:S571C	ENSP00000234739:S571C	S	+	2	0	BCL9	145558297	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	5.750000	0.68712	2.815000	0.96918	0.561000	0.74099	TCT		0.547	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
HRNR	388697	broad.mit.edu	37	1	152193180	152193180	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:152193180G>A	ENST00000368801.2	-	3	1000	c.925C>T	c.(925-927)Cac>Tac	p.H309Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	309					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACGTGGCTAGGAGAC	0.602																																						uc001ezt.1																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(925-927)Cac>Tac		Homo sapiens hornerin (HRNR), mRNA.							104.0	111.0	109.0					1																	152193180		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193180G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.925C>T	1.37:g.152193180G>A	ENSP00000357791:p.His309Tyr						p.H309Y	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	1001	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		309					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.925C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	7.497	0.651953	0.14516	.	.	ENSG00000197915	ENST00000368801	T	0.01599	4.74	3.4	-3.5	0.04710	.	.	.	.	.	T	0.00300	0.0009	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43015	-0.9417	9	0.33141	T	0.24	.	1.2105	0.01904	0.3142:0.1451:0.393:0.1478	.	309	Q86YZ3	HORN_HUMAN	Y	309	ENSP00000357791:H309Y	ENSP00000357791:H309Y	H	-	1	0	HRNR	150459804	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.902000	0.00703	-0.898000	0.03906	0.543000	0.68304	CAC		0.602	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
ZBTB7B	51043	broad.mit.edu	37	1	154987218	154987218	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:154987218C>T	ENST00000368426.3	+	3	219	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.R62C|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.R28C|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.R28C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	28					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAATGAGCAGCGCCAGCTGGG	0.592																																						uc001fgj.4																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(184-186)Cgc>Tgc		Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.							61.0	63.0	63.0					1																	154987218		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987218C>T	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.82C>T	1.37:g.154987218C>T	ENSP00000357411:p.Arg28Cys					ZBTB7B_uc009wpa.3_Missense_Mutation_p.R28C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R28C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R62C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R28C	p.R62C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	469	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		28			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.184C>T	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585532	0.66105	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	3.59	3.59	0.41128	BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000002	D	0.84570	0.5501	M	0.93550	3.43	0.50467	D	0.999875	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.88340	0.2974	10	0.87932	D	0	.	12.7145	0.57107	0.0:1.0:0.0:0.0	.	28;28;62	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	C	28;28;62;28	ENSP00000438647:R28C;ENSP00000357411:R28C;ENSP00000406286:R62C;ENSP00000292176:R28C	ENSP00000292176:R28C	R	+	1	0	ZBTB7B	153253842	0.993000	0.37304	1.000000	0.80357	0.991000	0.79684	0.340000	0.19892	1.827000	0.53221	0.462000	0.41574	CGC		0.592	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872	
FAM78B	149297	broad.mit.edu	37	1	166039701	166039701	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:166039701G>A	ENST00000338353.3	-	3	1152	c.563C>T	c.(562-564)aCc>aTc	p.T188I	FAM78B_ENST00000354422.3_Missense_Mutation_p.T188I			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	188										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACTTGATGGTCTGCAGAAT	0.572																																						uc021pef.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(562-564)aCc>aTc		Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.							203.0	181.0	188.0					1																	166039701		2203	4300	6503	SO:0001583	missense	149297							g.chr1:166039701G>A	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.563C>T	1.37:g.166039701G>A	ENSP00000339681:p.Thr188Ile					FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	p.T188I	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			1	1036	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		188					B7Z693	Missense_Mutation	SNP	ENST00000338353.3	37	c.563C>T	CCDS30931.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325767	0.81580	.	.	ENSG00000188859	ENST00000354422;ENST00000338353	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.76033	0.3931	M	0.74881	2.28	0.51012	D	0.999909	D	0.76494	0.999	D	0.78314	0.991	T	0.77968	-0.2388	8	0.87932	D	0	-0.8519	17.5764	0.87950	0.0:0.0:1.0:0.0	.	188	Q5VT40	FA78B_HUMAN	I	188	.	ENSP00000339681:T188I	T	-	2	0	FAM78B	164306325	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.731000	0.98807	2.746000	0.94184	0.655000	0.94253	ACC		0.572	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961	
URB2	9816	broad.mit.edu	37	1	229772130	229772130	+	Silent	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:229772130C>A	ENST00000258243.2	+	4	1906	c.1770C>A	c.(1768-1770)acC>acA	p.T590T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	590						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCGGACACCCCAGGCCCAG	0.597																																						uc001hts.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						c.(1768-1770)acC>acA		Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.							100.0	105.0	103.0					1																	229772130		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229772130C>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.1770C>A	1.37:g.229772130C>A						URB2_uc009xfd.1_Silent_p.T590T	p.T590T	NM_014777	NP_055592	Q14146	URB2_HUMAN			3	1906	+			590					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.1770C>A	CCDS31052.1																																																																																				0.597	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777	
ZNF365	22891	broad.mit.edu	37	10	64415230	64415230	+	Missense_Mutation	SNP	G	G	A	rs41306564		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:64415230G>A	ENST00000395251.1	+	4	564	c.230G>A	c.(229-231)cGt>cAt	p.R77H	ZNF365_ENST00000395249.1_Intron|AC067751.1_ENST00000579246.1_RNA|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365	77										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGTTTGGCGTTGGCAGTCA	0.507																																						uc001jmc.2																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27								Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.							132.0	105.0	114.0					10																	64415230		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64415230G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.230G>A	10.37:g.64415230G>A	ENSP00000378672:p.Arg77His					ZNF365_uc001jmd.1_Missense_Mutation_p.R77H|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron		NM_199451	NP_955523	Q70YC4	TALAN_HUMAN					+	Prostate(12;0.0297)|all_hematologic(501;0.228)								Missense_Mutation	SNP	ENST00000395251.1	37		CCDS7265.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803274	0.31869	.	.	ENSG00000138311	ENST00000395251	T	0.56103	0.48	4.75	-3.29	0.05017	.	.	.	.	.	T	0.24851	0.0603	N	0.08118	0	0.09310	N	0.999995	B	0.09022	0.002	B	0.04013	0.001	T	0.13764	-1.0497	9	0.87932	D	0	.	1.4125	0.02295	0.3652:0.289:0.2205:0.1253	rs41306564	77	Q70YC4	TALAN_HUMAN	H	77	ENSP00000378672:R77H	ENSP00000378672:R77H	R	+	2	0	ZNF365	64085236	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.260000	0.02858	-0.811000	0.04369	-0.742000	0.03525	CGT		0.507	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
PIPSL	266971	broad.mit.edu	37	10	95720191	95720191	+	RNA	SNP	A	A	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:95720191A>C	ENST00000480546.1	-	0	1106					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CCATGGTGCCACCCCGTCGAG	0.517																																						uc009xuj.2																			0											c.(961-963)ggT>ggG		Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																																						266971							g.chr10:95720191A>C	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720191A>C							p.G321G							0	1482	-								Q6NUK8	Silent	SNP	ENST00000480546.1	37	c.963T>G																																																																																					0.517	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319	
SMC3	9126	broad.mit.edu	37	10	112350849	112350851	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:112350849_112350851delAAC	ENST00000361804.4	+	17	1897_1899	c.1771_1773delAAC	c.(1771-1773)aacdel	p.N591del		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	591	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTGCCTCTTAACAAGTTAGATG	0.325																																						uc001kze.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1771-1773)aacdel		Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.																																				SO:0001651	inframe_deletion	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112350849_112350851delAAC	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1771_1773delAAC	10.37:g.112350849_112350851delAAC	ENSP00000354720:p.Asn591del						p.N591del	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	16	1897_1899	+		Breast(234;0.0848)|Lung NSC(174;0.238)	591			Flexible hinge.		A8K156|O60464|Q5T482	In_Frame_Del	DEL	ENST00000361804.4	37	c.1771_1773delAAC	CCDS31285.1																																																																																				0.325	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445	
HPX	3263	broad.mit.edu	37	11	6462111	6462111	+	Splice_Site	SNP	G	G	A	rs566505317		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:6462111G>A	ENST00000265983.3	-	1	183	c.83C>T	c.(82-84)cCg>cTg	p.P28L	HPX_ENST00000525057.1_Intron	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	28					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTTTACTCACGGAGGAAGAGG	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17872	0.0		0.0	False		,,,				2504	0.001					uc001mdg.2																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.e1+1		Homo sapiens hemopexin (HPX), mRNA.							56.0	54.0	55.0					11																	6462111		2201	4296	6497	SO:0001630	splice_region_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6462111G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.83+1C>T	11.37:g.6462111G>A						HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	1	144	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	28			O-glycosylated at one, two and three sites.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.83_splice	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	G	2.243	-0.373451	0.05034	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.08807	3.05	4.03	0.828	0.18841	.	1.360120	0.04720	N	0.419142	T	0.04227	0.0117	N	0.08118	0	0.35619	D	0.809307	B;B	0.11235	0.004;0.0	B;B	0.04013	0.001;0.0	T	0.39603	-0.9606	10	0.23302	T	0.38	-24.9543	3.1814	0.06586	0.2792:0.2263:0.4946:0.0	.	28;28	B7Z8Q4;P02790	.;HEMO_HUMAN	L	28	ENSP00000265983:P28L	ENSP00000265983:P28L	P	-	2	0	HPX	6418687	0.549000	0.26481	0.819000	0.32651	0.945000	0.59286	0.463000	0.21972	0.382000	0.24878	0.430000	0.28490	CCG		0.572	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613	Missense_Mutation
DHCR7	1717	broad.mit.edu	37	11	71146770	71146770	+	Missense_Mutation	SNP	A	A	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:71146770A>T	ENST00000355527.3	-	9	1355	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	DHCR7_ENST00000407721.2_Missense_Mutation_p.L360Q	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	360					blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						GCGGCGGAACAGGTCCTTCTG	0.662									Smith-Lemli-Opitz syndrome																													uc001oqk.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19	GRCh37	CM042972	DHCR7	M		c.(1078-1080)cTg>cAg		Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	NADH(DB00157)						39.0	37.0	38.0					11																	71146770		2200	4293	6493	SO:0001583	missense	1717	Smith-Lemli-Opitz syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146770A>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1079T>A	11.37:g.71146770A>T	ENSP00000347717:p.Leu360Gln					DHCR7_uc001oql.3_Missense_Mutation_p.L360Q	p.L360Q	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN			8	1329	-			360					B2R6Z2|O60492|O60717	Missense_Mutation	SNP	ENST00000355527.3	37	c.1079T>A	CCDS8200.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.32|13.32	2.202918|2.202918	0.38905|0.38905	.|.	.|.	ENSG00000172893|ENSG00000172893	ENST00000525137|ENST00000407721;ENST00000355527;ENST00000533800	D|D;D;D	0.99394|0.97831	-5.82|-4.56;-4.56;-4.56	5.12|5.12	3.98|3.98	0.46160|0.46160	.|.	.|0.141158	.|0.48767	.|D	.|0.000172	D|D	0.97102|0.97102	0.9053|0.9053	L|L	0.48877|0.48877	1.53|1.53	0.58432|0.58432	D|D	0.999999|0.999999	.|D	.|0.62365	.|0.991	.|P	.|0.62435	.|0.902	D|D	0.95492|0.95492	0.8570|0.8570	7|10	0.66056|0.32370	D|T	0.02|0.25	-19.6713|-19.6713	9.282|9.282	0.37733|0.37733	0.9105:0.0:0.0895:0.0|0.9105:0.0:0.0895:0.0	.|.	.|360	.|Q9UBM7	.|DHCR7_HUMAN	S|Q	194|360;360;110	ENSP00000435956:C194S|ENSP00000384739:L360Q;ENSP00000347717:L360Q;ENSP00000435011:L110Q	ENSP00000435956:C194S|ENSP00000347717:L360Q	C|L	-|-	1|2	0|0	DHCR7|DHCR7	70824418|70824418	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.838000|0.838000	0.47535|0.47535	6.368000|6.368000	0.73104|0.73104	1.932000|1.932000	0.55993|0.55993	0.459000|0.459000	0.35465|0.35465	TGT|CTG		0.662	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360	
AAMDC	28971	broad.mit.edu	37	11	77580777	77580777	+	Missense_Mutation	SNP	G	G	A	rs201315751		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:77580777G>A	ENST00000526415.1	+	4	315	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	AAMDC_ENST00000525034.1_Missense_Mutation_p.G67S|AAMDC_ENST00000525409.1_Intron|AAMDC_ENST00000533193.1_Missense_Mutation_p.G94S|AAMDC_ENST00000393427.2_Missense_Mutation_p.G48S|RP11-91P24.7_ENST00000525594.1_RNA|AAMDC_ENST00000527134.1_Missense_Mutation_p.G48S|AAMDC_ENST00000304716.8_Missense_Mutation_p.G48S|RP11-91P24.6_ENST00000530972.1_RNA|AAMDC_ENST00000532481.1_Missense_Mutation_p.G48S			Q9H7C9	AAMDC_HUMAN	adipogenesis associated, Mth938 domain containing	48	MTH138-like domain. {ECO:0000250}.				negative regulation of apoptotic process (GO:0043066)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)											GCATTCTCCTGGTGTGCAGCC	0.458																																						uc001oyq.3																			0				stomach(2)	2						c.(142-144)Ggt>Agt		Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.							283.0	261.0	269.0					11																	77580777		2200	4292	6492	SO:0001583	missense	28971							g.chr11:77580777G>A	BC016854	CCDS8254.1	11q14.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000087884	ENSG00000087884			30205	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 67"""	C11orf67		12477932	Standard	NM_024684		Approved	PTD015, FLJ21035, CK067	uc001oyq.3	Q9H7C9	OTTHUMG00000166651	ENST00000526415.1:c.142G>A	11.37:g.77580777G>A	ENSP00000431808:p.Gly48Ser					C11orf67_uc001oyp.3_Missense_Mutation_p.G48S|C11orf67_uc001oyr.1_Missense_Mutation_p.G48S	p.G48S	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)		2	240	+	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		48					Q96AQ4|Q9Y6B1	Missense_Mutation	SNP	ENST00000526415.1	37	c.142G>A	CCDS8254.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900160	0.92035	.	.	ENSG00000087884	ENST00000532481;ENST00000526415;ENST00000393427;ENST00000527134;ENST00000304716;ENST00000533193;ENST00000525034	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.54	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.87095	0.6092	M	0.72894	2.215	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.966;0.961	D	0.88868	0.3331	10	0.87932	D	0	-12.9103	15.643	0.77020	0.0:0.0:0.8617:0.1383	.	48;48;48	E9PLK9;Q9H7C9;Q9H7C9-3	.;CK067_HUMAN;.	S	48;48;48;48;48;94;67	ENSP00000433293:G48S;ENSP00000431808:G48S;ENSP00000377078:G48S;ENSP00000433281:G48S;ENSP00000307254:G48S;ENSP00000436086:G94S;ENSP00000432830:G67S	ENSP00000307254:G48S	G	+	1	0	C11orf67	77258425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.234000	0.89801	1.565000	0.49641	0.650000	0.86243	GGT		0.458	AAMDC-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390976.1	NM_024684	
CLMP	79827	broad.mit.edu	37	11	122945484	122945484	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:122945484G>A	ENST00000448775.2	-	6	1087	c.747C>T	c.(745-747)ttC>ttT	p.F249F	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	249					digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ACACCAAGAGGAAAATCAGCA	0.443																																						uc001pyt.3																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						c.(745-747)ttC>ttT		Homo sapiens CXADR-like membrane protein (CLMP), mRNA.							116.0	111.0	112.0					11																	122945484		2202	4299	6501	SO:0001819	synonymous_variant	79827					integral to membrane|tight junction		g.chr11:122945484G>A	BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.747C>T	11.37:g.122945484G>A							p.F249F	NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN			5	1106	-			249						Silent	SNP	ENST00000448775.2	37	c.747C>T	CCDS8441.1																																																																																				0.443	CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	
NCAPD3	23310	broad.mit.edu	37	11	134048751	134048751	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:134048751C>T	ENST00000534548.2	-	21	2704	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	880					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCAGGACGGACTGAATCAGAA	0.468																																						uc001qhd.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2638-2640)caG>caA		Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.							110.0	96.0	101.0					11																	134048751		2201	4297	6498	SO:0001819	synonymous_variant	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134048751C>T	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.2640G>A	11.37:g.134048751C>T						NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	p.Q880Q	NM_015261	NP_056076	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	20	3246	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	880					A6NFS2|Q4KMQ9	Silent	SNP	ENST00000534548.2	37	c.2640G>A	CCDS31723.1																																																																																				0.468	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
PLBD1	79887	broad.mit.edu	37	12	14695158	14695158	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:14695158C>T	ENST00000240617.5	-	3	1055	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	135					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AAATCCTGCACTTTATCCATG	0.343																																						uc001rcc.1																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(403-405)Gtg>Atg		Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.							195.0	181.0	186.0					12																	14695158		2203	4300	6503	SO:0001583	missense	79887				lipid catabolic process	extracellular region	hydrolase activity	g.chr12:14695158C>T	BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.403G>A	12.37:g.14695158C>T	ENSP00000240617:p.Val135Met						p.V135M	NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN			2	564	-			135					A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	ENST00000240617.5	37	c.403G>A	CCDS31751.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152703	0.57259	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T;T	0.19394	2.15;2.15	6.02	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.51381	0.1671	M	0.86651	2.83	0.48341	D	0.999636	D	0.89917	1.0	D	0.79784	0.993	T	0.56529	-0.7964	10	0.72032	D	0.01	-24.0718	14.7497	0.69516	0.1439:0.8561:0.0:0.0	.	135	Q6P4A8	PLBL1_HUMAN	M	135;88	ENSP00000240617:V135M;ENSP00000438367:V88M	ENSP00000240617:V135M	V	-	1	0	PLBD1	14586425	1.000000	0.71417	0.985000	0.45067	0.269000	0.26545	2.443000	0.44881	2.865000	0.98341	0.655000	0.94253	GTG		0.343	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401203.1	NM_024829	
ABCC9	10060	broad.mit.edu	37	12	21997449	21997449	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:21997449G>A	ENST00000261201.4	-	26	3282	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	ABCC9_ENST00000261200.4_Missense_Mutation_p.R1095C|ABCC9_ENST00000345162.2_Missense_Mutation_p.R1059C|RP11-729I10.2_ENST00000539874.1_RNA	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1095	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GCTGAAAAGCGATTGAGAATC	0.353																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3283-3285)Cgc>Tgc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						103.0	111.0	109.0					12																	21997449		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997449G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3283C>T	12.37:g.21997449G>A	ENSP00000261201:p.Arg1095Cys					ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C	p.R1095C	NM_020297	NP_064693	O60706	ABCC9_HUMAN			25	3303	-			1095			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3283C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.162145	0.78226	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.05	5.05	0.67936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	H	0.97077	3.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98763	1.0725	10	0.59425	D	0.04	-9.942	18.6123	0.91290	0.0:0.0:1.0:0.0	.	1095;1095	O60706;O60706-2	ABCC9_HUMAN;.	C	1095;722;1095;1059	ENSP00000261200:R1095C;ENSP00000440521:R722C;ENSP00000261201:R1095C;ENSP00000261202:R1059C	ENSP00000261200:R1095C	R	-	1	0	ABCC9	21888716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.375000	0.52410	2.634000	0.89283	0.650000	0.86243	CGC		0.353	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
PKP2	5318	broad.mit.edu	37	12	32977045	32977045	+	Silent	SNP	G	G	A	rs397517006		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:32977045G>A	ENST00000070846.6	-	8	1764	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	PKP2_ENST00000340811.4_Silent_p.D536D	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	580					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAATGAGTCCGTCACATCTTC	0.398																																						uc001rlj.4																			0				NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50						c.(1738-1740)gaC>gaT		Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.							161.0	135.0	144.0					12																	32977045		2203	4300	6503	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32977045G>A	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1740C>T	12.37:g.32977045G>A						PKP2_uc001rlk.4_Silent_p.D536D|PKP2_uc010skj.2_Silent_p.D536D	p.D580D	NM_004572	NP_004563	Q99959	PKP2_HUMAN			7	1855	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		580					A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.1740C>T	CCDS8731.1																																																																																				0.398	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
GRIP1	23426	broad.mit.edu	37	12	66786464	66786464	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:66786464C>G	ENST00000398016.3	-	17	2174	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H	GRIP1_ENST00000286445.7_Missense_Mutation_p.Q754H|GRIP1_ENST00000359742.4_Missense_Mutation_p.Q754H|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACCATCTGTCTGTTTCTTAA	0.413																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(2104-2106)caG>caC		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							150.0	140.0	143.0					12																	66786464		1877	4111	5988	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786464C>G	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2106G>C	12.37:g.66786464C>G	ENSP00000381098:p.Gln702His					GRIP1_uc010sta.1_Missense_Mutation_p.Q646H|GRIP1_uc001stj.3_Missense_Mutation_p.Q484H|GRIP1_uc001stm.3_Missense_Mutation_p.Q702H|GRIP1_uc001stl.1_Missense_Mutation_p.Q594H	p.Q702H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	16	2347	-			754			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2106G>C	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.535943|2.535943	0.45176|0.45176	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|.	0.30448|.	1.53;1.53;1.53;1.53;1.53;1.53|.	4.71|4.71	2.89|2.89	0.33648|0.33648	PDZ/DHR/GLGF (3);|.	0.052477|.	0.85682|.	D|.	0.000000|.	T|T	0.57460|0.57460	0.2055|0.2055	L|L	0.52823|0.52823	1.66|1.66	0.48288|0.48288	D|D	0.99962|0.99962	D;D;D;D|.	0.65815|.	0.991;0.995;0.98;0.992|.	D;D;P;D|.	0.70016|.	0.944;0.94;0.891;0.967|.	T|T	0.51718|0.51718	-0.8670|-0.8670	9|5	.|.	.|.	.|.	-13.2467|-13.2467	8.1796|8.1796	0.31302|0.31302	0.0:0.6247:0.0:0.3753|0.0:0.6247:0.0:0.3753	.|.	702;754;702;754|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	H|T	702;754;754;702;646;594|569	ENSP00000381098:Q702H;ENSP00000352780:Q754H;ENSP00000286445:Q754H;ENSP00000446047:Q702H;ENSP00000446024:Q646H;ENSP00000446011:Q594H|.	.|.	Q|R	-|-	3|2	2|0	GRIP1|GRIP1	65072731|65072731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.873000|0.873000	0.50193|0.50193	0.933000|0.933000	0.28897|0.28897	0.729000|0.729000	0.32403|0.32403	-0.448000|-0.448000	0.05591|0.05591	CAG|AGA		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
USP30	84749	broad.mit.edu	37	12	109509449	109509449	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:109509449G>A	ENST00000257548.5	+	5	606	c.513G>A	c.(511-513)tcG>tcA	p.S171S	USP30_ENST00000392784.2_Silent_p.S140S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	171	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATTACCTCGTCATTGGAAG	0.463																																						uc010sxi.2																			0				endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						c.(511-513)tcG>tcA		Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.							131.0	109.0	116.0					12																	109509449		2203	4300	6503	SO:0001819	synonymous_variant	84749				ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr12:109509449G>A	BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.513G>A	12.37:g.109509449G>A						USP30_uc001tnu.4_Silent_p.S140S	p.S171S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN			4	617	+			171					Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	ENST00000257548.5	37	c.513G>A	CCDS9123.2																																																																																				0.463	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257733.2	NM_032663	
TMEM120B	144404	broad.mit.edu	37	12	122209423	122209423	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:122209423G>A	ENST00000449592.2	+	8	748	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TMEM120B_ENST00000540377.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	216						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAGAAGTTTCGCAACCAGTTC	0.488																																						uc001ubc.4																			0		p.R216C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11						c.(646-648)cGc>cAc		Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.							206.0	183.0	190.0					12																	122209423		1867	4107	5974	SO:0001583	missense	144404					integral to membrane		g.chr12:122209423G>A	BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.647G>A	12.37:g.122209423G>A	ENSP00000404991:p.Arg216His					TMEM120B_uc009zxh.3_Missense_Mutation_p.R216H	p.R216H	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)	7	791	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		216					A0PK01|B3KX33	Missense_Mutation	SNP	ENST00000449592.2	37	c.647G>A	CCDS41852.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491867	0.64074	.	.	ENSG00000188735	ENST00000449592;ENST00000541467	T;T	0.35789	1.29;1.29	5.43	4.51	0.55191	.	0.049151	0.85682	D	0.000000	T	0.68851	0.3046	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.78099	-0.2336	10	0.62326	D	0.03	-27.3826	14.8539	0.70319	0.0:0.1451:0.8549:0.0	.	216	A0PK00	T120B_HUMAN	H	216;195	ENSP00000404991:R216H;ENSP00000442105:R195H	ENSP00000345152:R216H	R	+	2	0	TMEM120B	120693806	1.000000	0.71417	0.803000	0.32268	0.229000	0.25112	9.608000	0.98331	1.241000	0.43820	0.514000	0.50259	CGC		0.488	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402158.1	NM_001080825	
LAMP1	3916	broad.mit.edu	37	13	113964010	113964010	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr13:113964010C>A	ENST00000332556.4	+	3	430	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	LAMP1_ENST00000397181.3_Missense_Mutation_p.S79Y	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	79	First lumenal domain.				autophagic cell death (GO:0048102)|autophagy (GO:0006914)|establishment of protein localization to organelle (GO:0072594)|Golgi to lysosome transport (GO:0090160)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|protein stabilization (GO:0050821)|regulation of organelle transport along microtubule (GO:1902513)	alveolar lamellar body (GO:0097208)|cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|phagolysosome membrane (GO:0061474)|sarcolemma (GO:0042383)	enzyme binding (GO:0019899)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AACCGCAGCTCCTGTGGAAAA	0.443																																						uc001vtm.1																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16						c.(235-237)tCc>tAc		Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.							111.0	114.0	113.0					13																	113964010		1967	4157	6124	SO:0001583	missense	3916					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction		g.chr13:113964010C>A	J03263	CCDS41909.1	13q34	2011-11-24			ENSG00000185896	ENSG00000185896		"""CD molecules"""	6499	protein-coding gene	gene with protein product		153330					Standard	NM_005561		Approved	CD107a	uc001vtm.1	P11279	OTTHUMG00000017380	ENST00000332556.4:c.236C>A	13.37:g.113964010C>A	ENSP00000333298:p.Ser79Tyr					LAMP1_uc010tka.1_Missense_Mutation_p.S79Y	p.S79Y	NM_005561	NP_005552	P11279	LAMP1_HUMAN	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)		2	517	+	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	79			First lumenal domain.		B4DWL3|Q8WU33|Q96I40|Q9BRD2|Q9NP13	Missense_Mutation	SNP	ENST00000332556.4	37	c.236C>A	CCDS41909.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.700192	0.30142	.	.	ENSG00000185896	ENST00000332556;ENST00000397181	T;T	0.37058	1.38;1.22	5.15	3.31	0.37934	.	0.286398	0.34067	N	0.004295	T	0.60235	0.2253	M	0.86343	2.81	0.22156	N	0.999328	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.99	T	0.52510	-0.8566	10	0.87932	D	0	-14.6211	8.1066	0.30890	0.0:0.7288:0.1743:0.0969	.	79;79	B4DWL3;P11279	.;LAMP1_HUMAN	Y	79	ENSP00000333298:S79Y;ENSP00000415354:S79Y	ENSP00000333298:S79Y	S	+	2	0	LAMP1	113012011	0.095000	0.21747	0.720000	0.30636	0.136000	0.21042	0.335000	0.19806	1.165000	0.42670	0.557000	0.71058	TCC		0.443	LAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045876.2		
OR4K1	79544	broad.mit.edu	37	14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T	rs368279248		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr14:20404274C>T	ENST00000285600.4	+	1	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463																																						uc001vwj.2																			0		p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(448-450)gCg>gTg		Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.		C	VAL/ALA	0,4406		0,0,2203	140.0	134.0	136.0		449	3.9	1.0	14		136	1,8599		0,1,4299	no	missense	OR4K1	NM_001004063.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	150/312	20404274	1,13005	2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404274C>T		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.449C>T	14.37:g.20404274C>T	ENSP00000285600:p.Ala150Val						p.A150V	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	0	508	+	all_cancers(95;0.00108)		150					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.449C>T	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	5.687	0.311329	0.10789	0.0	1.16E-4	ENSG00000155249	ENST00000285600	T	0.35048	1.33	4.82	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.615477	0.15377	N	0.265542	T	0.12433	0.0302	N	0.01817	-0.705	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.13150	-1.0520	10	0.02654	T	1	.	11.1775	0.48607	0.0:0.9068:0.0:0.0932	.	150	Q8NGD4	OR4K1_HUMAN	V	150	ENSP00000285600:A150V	ENSP00000285600:A150V	A	+	2	0	OR4K1	19474114	0.003000	0.15002	0.980000	0.43619	0.778000	0.44026	1.613000	0.36900	2.487000	0.83934	0.563000	0.77884	GCG		0.463	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1		
TGM5	9333	broad.mit.edu	37	15	43525396	43525396	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:43525396G>A	ENST00000220420.5	-	13	2163	c.2156C>T	c.(2155-2157)gCa>gTa	p.A719V	TGM5_ENST00000349114.4_Missense_Mutation_p.A637V	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	719					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTTATAATGCAAAGTCTAC	0.438																																						uc001zrd.2																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(2155-2157)gCa>gTa		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)						168.0	145.0	153.0					15																	43525396		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43525396G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.2156C>T	15.37:g.43525396G>A	ENSP00000220420:p.Ala719Val					TGM5_uc001zrc.2_Missense_Mutation_p.A376V|TGM5_uc001zre.2_Missense_Mutation_p.A637V	p.A719V	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	12	2164	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	719					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.2156C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150597	0.57151	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.79141	-1.24;-1.22	6.03	3.02	0.34903	Transglutaminase, C-terminal (1);	0.618502	0.14920	N	0.290735	T	0.80014	0.4546	L	0.38175	1.15	0.09310	N	0.999999	D;D	0.69078	0.997;0.992	P;P	0.62014	0.897;0.701	T	0.69610	-0.5099	10	0.87932	D	0	-6.1009	10.6525	0.45657	0.1359:0.4376:0.4265:0.0	.	637;719	O43548-2;O43548	.;TGM5_HUMAN	V	719;637;718	ENSP00000220420:A719V;ENSP00000220419:A637V	ENSP00000220420:A719V	A	-	2	0	TGM5	41312688	0.000000	0.05858	0.186000	0.23195	0.622000	0.37654	-0.049000	0.11924	0.373000	0.24621	-0.165000	0.13383	GCA		0.438	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
BTBD1	53339	broad.mit.edu	37	15	83725179	83725179	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:83725179G>A	ENST00000261721.4	-	2	722	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.H174Y|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	174					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)		p.H174D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GCCCTAAGATGTTTGGTGAGA	0.363																																						uc002bjn.3																			1	Substitution - Missense(1)	p.H174D(2)	ovary(1)	central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10						c.(520-522)Cat>Tat		Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.							115.0	100.0	105.0					15																	83725179		2203	4300	6503	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83725179G>A	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.520C>T	15.37:g.83725179G>A	ENSP00000261721:p.His174Tyr					BTBD1_uc002bjo.3_Missense_Mutation_p.H174Y	p.H174Y	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	1	723	-			174					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.520C>T	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441113	0.43326	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.67865	-0.29;-0.29	5.92	5.92	0.95590	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.29908	0.895	0.58432	D	0.999992	P;P	0.40553	0.721;0.721	P;P	0.49887	0.625;0.522	T	0.70296	-0.4911	10	0.66056	D	0.02	-20.3638	20.3172	0.98658	0.0:0.0:1.0:0.0	.	174;174	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	Y	174	ENSP00000261721:H174Y;ENSP00000368713:H174Y	ENSP00000261721:H174Y	H	-	1	0	BTBD1	81516183	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.020000	0.70826	2.801000	0.96364	0.650000	0.86243	CAT		0.363	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1		
PKD1	5310	broad.mit.edu	37	16	2155892	2155892	+	Silent	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000423118.1_Silent_p.L2613L|PKD1_ENST00000561991.1_5'UTR	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1; unknown pathological significance). {ECO:0000269|PubMed:11571556}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657																																						uc002cos.1																			1	Substitution - coding silent(1)	p.L2613L(2)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(7837-7839)Ttg>Ctg		Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.							46.0	45.0	45.0					16																	2155892		1400	2465	3865	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2155892A>G	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7837T>C	16.37:g.2155892A>G						TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank	p.L2613L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			19	8046	-			2613		Missing (in ADPKD1; could be a polymorphism).	REJ.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.7837T>C	CCDS32369.1																																																																																				0.657	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1		
DNAH3	55567	broad.mit.edu	37	16	20999316	20999316	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:20999316T>A	ENST00000261383.3	-	45	6672	c.6673A>T	c.(6673-6675)Agt>Tgt	p.S2225C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2225	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATCGAACTGAAAATCTTG	0.428																																						uc010vbe.2																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(6673-6675)Agt>Tgt		Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.							124.0	112.0	116.0					16																	20999316		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20999316T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6673A>T	16.37:g.20999316T>A	ENSP00000261383:p.Ser2225Cys					DNAH3_uc010vbd.2_5'Flank	p.S2225C	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	44	6673	-			2225			AAA 3 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.6673A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882566	0.33255	.	.	ENSG00000158486	ENST00000261383	T	0.38560	1.13	5.09	2.76	0.32466	.	0.472911	0.21345	N	0.076072	T	0.46678	0.1405	M	0.92077	3.27	0.22701	N	0.998839	B	0.11235	0.004	B	0.18871	0.023	T	0.56177	-0.8022	10	0.72032	D	0.01	.	1.4907	0.02456	0.1415:0.1535:0.1474:0.5576	.	2225	Q8TD57	DYH3_HUMAN	C	2225	ENSP00000261383:S2225C	ENSP00000261383:S2225C	S	-	1	0	DNAH3	20906817	0.896000	0.30565	0.895000	0.35142	0.928000	0.56348	0.813000	0.27225	0.254000	0.21573	0.477000	0.44152	AGT		0.428	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
KCTD19	146212	broad.mit.edu	37	16	67327795	67327795	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:67327795T>C	ENST00000304372.5	-	12	1925	c.1870A>G	c.(1870-1872)Acc>Gcc	p.T624A		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	624					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTCTTTGGTTTCAGATTTC	0.532																																						uc002esu.2																			0		p.E623K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(1870-1872)Acc>Gcc		Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.							137.0	143.0	141.0					16																	67327795		1914	4130	6044	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327795T>C	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.1870A>G	16.37:g.67327795T>C	ENSP00000305702:p.Thr624Ala					KCTD19_uc002est.2_Missense_Mutation_p.T396A|KCTD19_uc010vjj.1_Missense_Mutation_p.T367A	p.T624A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	11	1921	-		Ovarian(137;0.192)	624					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.1870A>G	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694028	0.30052	.	.	ENSG00000168676	ENST00000304372	T	0.57595	0.39	5.63	2.18	0.27775	.	0.457877	0.20370	N	0.093666	T	0.28333	0.0700	N	0.12182	0.205	0.21604	N	0.999629	B	0.02656	0.0	B	0.01281	0.0	T	0.17623	-1.0363	10	0.17369	T	0.5	-2.8457	7.1928	0.25834	0.0:0.2644:0.0:0.7356	.	624	Q17RG1	KCD19_HUMAN	A	624	ENSP00000305702:T624A	ENSP00000305702:T624A	T	-	1	0	KCTD19	65885296	0.979000	0.34478	0.980000	0.43619	0.961000	0.63080	0.680000	0.25306	0.106000	0.17784	0.459000	0.35465	ACC		0.532	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1	XM_085367	
SGSM2	9905	broad.mit.edu	37	17	2276367	2276367	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:2276367A>G	ENST00000426855.2	+	15	1949	c.1774A>G	c.(1774-1776)Atg>Gtg	p.M592V	SGSM2_ENST00000574563.1_Missense_Mutation_p.M592V|SGSM2_ENST00000268989.3_Missense_Mutation_p.M637V|RP1-59D14.5_ENST00000574290.1_RNA	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	592	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGAAGGAGATGGAGCAGGT	0.617																																						uc002fum.4																			0				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1909-1911)Atg>Gtg		Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.							50.0	39.0	43.0					17																	2276367		2202	4300	6502	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2276367A>G	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.1774A>G	17.37:g.2276367A>G	ENSP00000415107:p.Met592Val					SGSM2_uc002fun.4_Missense_Mutation_p.M592V|SGSM2_uc010vqw.2_Missense_Mutation_p.M592V|SGSM2_uc002fuo.2_3'UTR	p.M637V	NM_014853	NP_055668	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	15	2086	+			592			Rab-GAP TBC.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.1909A>G	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	a	22.4	4.285296	0.80803	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.03920	3.76;3.76	5.8	5.8	0.92144	Rab-GAP/TBC domain (3);	0.065535	0.85682	D	0.000000	T	0.18341	0.0440	M	0.66939	2.045	0.80722	D	1	D;D;P	0.58620	0.983;0.972;0.951	P;D;P	0.63381	0.793;0.914;0.512	T	0.00069	-1.2138	10	0.62326	D	0.03	-22.1157	15.3275	0.74179	1.0:0.0:0.0:0.0	.	592;592;637	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	V	637;592	ENSP00000268989:M637V;ENSP00000415107:M592V	ENSP00000268989:M637V	M	+	1	0	SGSM2	2223117	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	5.791000	0.69045	2.220000	0.72140	0.454000	0.30748	ATG		0.617	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1	NM_014853	
UNC45B	146862	broad.mit.edu	37	17	33491149	33491149	+	Missense_Mutation	SNP	G	G	A	rs143612410	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:33491149G>A	ENST00000268876.5	+	9	1212	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	UNC45B_ENST00000378449.1_Missense_Mutation_p.R372H|UNC45B_ENST00000394570.2_Missense_Mutation_p.R372H|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Missense_Mutation_p.R372H|UNC45B_ENST00000591048.1_Missense_Mutation_p.R372H	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	372					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACCCGGAGCGCGATCACTTC	0.532													G|||	4	0.000798722	0.0	0.0	5008	,	,		20119	0.0		0.0	False		,,,				2504	0.0041					uc002hja.3																			0		p.R372C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1114-1116)cGc>cAc		Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	178.0	168.0	172.0		1115,1115	4.4	0.2	17	dbSNP_134	172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UNC45B	NM_001033576.1,NM_173167.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	372/930,372/932	33491149	1,13005	2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33491149G>A	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1115G>A	17.37:g.33491149G>A	ENSP00000268876:p.Arg372His					UNC45B_uc002hjb.3_Missense_Mutation_p.R372H|UNC45B_uc002hjc.3_Missense_Mutation_p.R372H|UNC45B_uc010cto.3_Missense_Mutation_p.R372H	p.R372H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN			8	1212	+		Ovarian(249;0.17)	372					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.1115G>A	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023359	0.93462	0.0	1.16E-4	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.67869	0.2939	M	0.69823	2.125	0.31261	N	0.692862	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.72327	-0.4327	10	0.72032	D	0.01	-18.5649	16.5352	0.84371	0.0:0.0:1.0:0.0	.	372;372;372	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	H	372	ENSP00000378071:R372H;ENSP00000268876:R372H;ENSP00000412840:R372H;ENSP00000367710:R372H	ENSP00000268876:R372H	R	+	2	0	UNC45B	30515262	1.000000	0.71417	0.166000	0.22797	0.949000	0.60115	9.573000	0.98181	2.461000	0.83175	0.462000	0.41574	CGC		0.532	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
KIF2B	84643	broad.mit.edu	37	17	51900723	51900723	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:51900723G>A	ENST00000268919.4	+	1	485	c.329G>A	c.(328-330)cGt>cAt	p.R110H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	110					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGACCAGCGTACCGCCACG	0.607																																						uc002iua.2																			0		p.R110C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(328-330)cGt>cAt		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							80.0	86.0	84.0					17																	51900723		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900723G>A	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.329G>A	17.37:g.51900723G>A	ENSP00000268919:p.Arg110His					KIF2B_uc010wna.1_Non-coding_Transcript	p.R110H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	485	+			110					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.329G>A	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	G	5.475	0.272626	0.10349	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74737	-0.87	5.11	0.918	0.19386	.	1.490870	0.04423	N	0.367975	T	0.42177	0.1191	N	0.01874	-0.695	0.09310	N	1	P	0.40000	0.698	B	0.27796	0.083	T	0.47169	-0.9138	10	0.59425	D	0.04	.	3.2961	0.06966	0.3234:0.0:0.4981:0.1785	.	110	Q8N4N8	KIF2B_HUMAN	H	110;33	ENSP00000268919:R110H	ENSP00000268919:R110H	R	+	2	0	KIF2B	49255722	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.396000	0.20867	0.403000	0.25479	-0.152000	0.13540	CGT		0.607	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
ENPP7	339221	broad.mit.edu	37	17	77708908	77708908	+	Missense_Mutation	SNP	C	C	T	rs142610423		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:77708908C>T	ENST00000328313.5	+	3	687	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7											breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGTGACGCGGAGCCGGAA	0.592																																						uc002jxa.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34						c.(466-468)Cgg>Tgg		Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.		C	TRP/ARG	0,4406		0,0,2203	64.0	53.0	57.0		466	2.7	0.7	17	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ENPP7	NM_178543.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	156/459	77708908	1,13005	2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77708908C>T	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.466C>T	17.37:g.77708908C>T	ENSP00000332656:p.Arg156Trp						p.R156W	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		2	486	+			156						Missense_Mutation	SNP	ENST00000328313.5	37	c.466C>T	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919188	0.33908	0.0	1.16E-4	ENSG00000182156	ENST00000328313	T	0.73469	-0.75	5.0	2.73	0.32206	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	2.764320	0.02234	N	0.065106	D	0.82756	0.5106	M	0.64997	1.995	0.09310	N	1	D	0.71674	0.998	P	0.61658	0.892	T	0.61058	-0.7139	10	0.38643	T	0.18	-12.1788	7.9413	0.29961	0.25:0.4846:0.2653:0.0	.	156	Q6UWV6	ENPP7_HUMAN	W	156	ENSP00000332656:R156W	ENSP00000332656:R156W	R	+	1	2	ENPP7	75323503	0.000000	0.05858	0.683000	0.30040	0.182000	0.23217	0.318000	0.19504	1.028000	0.39785	0.591000	0.81541	CGG		0.592	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543	
C17orf70	80233	broad.mit.edu	37	17	79516305	79516305	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:79516305C>G	ENST00000327787.8	-	4	1376	c.1330G>C	c.(1330-1332)Gcc>Ccc	p.A444P	C17orf70_ENST00000537152.1_Missense_Mutation_p.A293P|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	444					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCATCCTGGCTGGGCCAGGC	0.592																																						uc002kaq.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(1330-1332)Gcc>Ccc		Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.							53.0	47.0	49.0					17																	79516305		2203	4300	6503	SO:0001583	missense	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79516305C>G	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1330G>C	17.37:g.79516305C>G	ENSP00000333283:p.Ala444Pro					C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A293P	p.A444P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		3	1403	-	all_neural(118;0.0878)|Melanoma(429;0.242)		444					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Missense_Mutation	SNP	ENST00000327787.8	37	c.1330G>C	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993320	0.35131	.	.	ENSG00000185504	ENST00000327787;ENST00000537152;ENST00000541246	T;T	0.34072	1.38;1.39	5.04	-7.92	0.01160	.	0.963646	0.08480	N	0.939640	T	0.20495	0.0493	L	0.34521	1.04	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.23368	-1.0190	10	0.59425	D	0.04	.	5.6964	0.17857	0.2848:0.4862:0.0:0.229	.	444	Q0VG06	FP100_HUMAN	P	444;293;293	ENSP00000333283:A444P;ENSP00000440151:A293P	ENSP00000333283:A444P	A	-	1	0	C17orf70	77126747	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.033000	0.03571	-2.052000	0.00902	-0.319000	0.08680	GCC		0.592	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161	
ZNF556	80032	broad.mit.edu	37	19	2877392	2877392	+	Missense_Mutation	SNP	C	C	T	rs138176298	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:2877392C>T	ENST00000307635.2	+	4	523	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ZNF556_ENST00000586426.1_Missense_Mutation_p.R145W	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TAGTGTAAGACGGTACGAATG	0.393													C|||	4	0.000798722	0.0	0.0014	5008	,	,		21531	0.002		0.0	False		,,,				2504	0.001					uc002lwp.1																			0		p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(436-438)Cgg>Tgg		Homo sapiens zinc finger protein 556 (ZNF556), mRNA.		C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	127.0	133.0		436	-0.1	0.0	19	dbSNP_134	133	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ZNF556	NM_024967.1	101	0,7,6496	TT,TC,CC		0.0581,0.0454,0.0538	probably-damaging	146/457	2877392	7,12999	2203	4300	6503	SO:0001583	missense	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2877392C>T	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.436C>T	19.37:g.2877392C>T	ENSP00000302603:p.Arg146Trp					ZNF556_uc002lwq.3_Missense_Mutation_p.R145W	p.R146W	NM_024967	NP_079243	Q9HAH1	ZN556_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)	3	523	+			146		R -> L (in dbSNP:rs35499960).			Q96GM3	Missense_Mutation	SNP	ENST00000307635.2	37	c.436C>T	CCDS12097.1	3	0.0013736263736263737	0	0.0	1	0.0027624309392265192	2	0.0034965034965034965	0	0.0	C	12.22	1.873762	0.33069	4.54E-4	5.81E-4	ENSG00000172000	ENST00000307635	T	0.28666	1.6	2.27	-0.102	0.13613	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20780	0.0500	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.26430	-1.0103	9	0.87932	D	0	.	4.1278	0.10134	0.2263:0.6307:0.0:0.143	.	146	Q9HAH1	ZN556_HUMAN	W	146	ENSP00000302603:R146W	ENSP00000302603:R146W	R	+	1	2	ZNF556	2828392	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	2.441000	0.44864	-0.207000	0.10187	-1.884000	0.00543	CGG		0.393	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	NM_024967	
MUC16	94025	broad.mit.edu	37	19	9047753	9047753	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:9047753G>A	ENST00000397910.4	-	5	34081	c.33878C>T	c.(33877-33879)cCt>cTt	p.P11293L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11295	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTGTAGAAGGCATAGTGTC	0.473																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(33877-33879)cCt>cTt		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							66.0	61.0	63.0					19																	9047753		1988	4163	6151	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9047753G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.33878C>T	19.37:g.9047753G>A	ENSP00000381008:p.Pro11293Leu						p.P11293L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			4	34082	-			11295			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.33878C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.430	0.447530	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.03212	4.01	2.9	-0.725	0.11174	.	.	.	.	.	T	0.01976	0.0062	N	0.04959	-0.14	.	.	.	B	0.14438	0.01	B	0.10450	0.005	T	0.39396	-0.9616	8	0.87932	D	0	.	5.3084	0.15817	0.4963:0.0:0.5037:0.0	.	11293	B5ME49	.	L	11293	ENSP00000381008:P11293L	ENSP00000381008:P11293L	P	-	2	0	MUC16	8908753	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.917000	0.04025	-0.069000	0.12931	0.556000	0.70494	CCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SLC1A6	6511	broad.mit.edu	37	19	15082585	15082585	+	Missense_Mutation	SNP	G	G	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:15082585G>T	ENST00000221742.3	-	2	314	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.L103M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.L103M|SLC1A6_ENST00000598504.1_Missense_Mutation_p.L103M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.A107D	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	103					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGTAACACCAGCATCTGCAGC	0.567																																						uc002naa.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(307-309)Ctg>Atg		Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	L-Glutamic Acid(DB00142)						141.0	120.0	127.0					19																	15082585		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15082585G>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.307C>A	19.37:g.15082585G>T	ENSP00000221742:p.Leu103Met					SLC1A6_uc010dzu.1_Missense_Mutation_p.L103M|SLC1A6_uc010xod.1_Missense_Mutation_p.A107D|SLC1A6_uc002nab.3_Missense_Mutation_p.L103M|SLC1A6_uc002nac.3_Missense_Mutation_p.L103M|SLC1A6_uc002nad.1_Missense_Mutation_p.L103M	p.L103M	NM_005071	NP_005062	P48664	EAA4_HUMAN			1	314	-			103					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.307C>A	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.02|16.02	3.005234|3.005234	0.54254|0.54254	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.71341|0.61859	-0.56|0.07;0.07	4.02|4.02	0.532|0.532	0.17114|0.17114	.|Sodium:dicarboxylate symporter, conserved site (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.66025|0.66025	0.2748|0.2748	M|M	0.64567|0.64567	1.98|1.98	0.45718|0.45718	D|D	0.998628|0.998628	B|D;D;P	0.23442|0.76494	0.085|0.999;0.999;0.538	B|D;D;P	0.17098|0.81914	0.017|0.991;0.995;0.525	T|T	0.61806|0.61806	-0.6987|-0.6987	9|10	0.20046|0.39692	T|T	0.44|0.17	-10.7274|-10.7274	7.2857|7.2857	0.26337|0.26337	0.3432:0.0:0.6568:0.0|0.3432:0.0:0.6568:0.0	.|.	107|103;104;103	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	D|M	107|103;103;104	ENSP00000409386:A107D|ENSP00000221742:L103M;ENSP00000446175:L103M	ENSP00000409386:A107D|ENSP00000221742:L103M	A|L	-|-	2|1	0|2	SLC1A6|SLC1A6	14943585|14943585	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.995000|0.995000	0.86356|0.86356	1.735000|1.735000	0.38176|0.38176	0.365000|0.365000	0.24400|0.24400	0.561000|0.561000	0.74099|0.74099	GCT|CTG		0.567	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
CILP2	148113	broad.mit.edu	37	19	19655518	19655518	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:19655518C>T	ENST00000291495.5	+	8	2249	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	CILP2_ENST00000586018.1_Missense_Mutation_p.R728W	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	722						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGAGATCCGGGAGCGGCG	0.706																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(2182-2184)Cgg>Tgg		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							11.0	13.0	12.0					19																	19655518		2187	4264	6451	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655518C>T	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2164C>T	19.37:g.19655518C>T	ENSP00000291495:p.Arg722Trp					CILP2_uc002nmv.4_Missense_Mutation_p.R722W	p.R728W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	2267	+			722					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2182C>T	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049949	0.75846	.	.	ENSG00000160161	ENST00000291495	T	0.55413	0.52	4.89	4.89	0.63831	.	0.053328	0.64402	D	0.000001	T	0.68805	0.3041	L	0.58810	1.83	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.72418	-0.4300	10	0.87932	D	0	-26.945	15.6166	0.76773	0.0:1.0:0.0:0.0	.	722;722	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	W	722	ENSP00000291495:R722W	ENSP00000291495:R722W	R	+	1	2	CILP2	19516518	0.994000	0.37717	0.690000	0.30148	0.980000	0.70556	1.023000	0.30065	2.275000	0.75901	0.555000	0.69702	CGG		0.706	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
FGF21	26291	broad.mit.edu	37	19	49261318	49261318	+	Silent	SNP	A	A	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_ENST00000310160.3_5'Flank|FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling (GO:0007267)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glucose import (GO:0046326)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|regulation of low-density lipoprotein particle clearance (GO:0010988)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682																																						uc002pkn.1																			0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(469-471)gcA>gcC		Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.							28.0	35.0	33.0					19																	49261318		2202	4298	6500	SO:0001819	synonymous_variant	26291				cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity	g.chr19:49261318A>C	AB021975	CCDS12734.1	19q13.33	2012-09-20			ENSG00000105550	ENSG00000105550			3678	protein-coding gene	gene with protein product		609436				10858549	Standard	XM_005258731		Approved		uc002pko.1	Q9NSA1		ENST00000593756.1:c.471A>C	19.37:g.49261318A>C						FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A	p.A157A	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)	3	1043	+		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	157					Q8N683	Silent	SNP	ENST00000593756.1	37	c.471A>C	CCDS12734.1																																																																																				0.682	FGF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466200.1		
PTOV1	53635	broad.mit.edu	37	19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:50360994_50360996delCAA	ENST00000601675.1	+	7	863_865	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000391842.1_In_Frame_Del_p.N255del|PTOV1_ENST00000601638.1_In_Frame_Del_p.N223del|PTOV1_ENST00000599732.1_In_Frame_Del_p.N255del|AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000600603.1_In_Frame_Del_p.N223del|AC018766.4_ENST00000596624.1_RNA|PTOV1_ENST00000221557.9_In_Frame_Del_p.N223del|AC018766.5_ENST00000593654.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	255	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616																																						uc002pqf.1																			0				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16						c.(757-762)gtcaac>gtc		Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.				2,4262		1,0,2131						4.0	1.0			92	2,8252		0,2,4125	no	coding	PTOV1	NM_017432.3		1,2,6256	A1A1,A1R,RR		0.0242,0.0469,0.032				4,12514				SO:0001651	inframe_deletion	53635				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane		g.chr19:50360994_50360996delCAA	AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.759_761delCAA	19.37:g.50361000_50361002delCAA	ENSP00000472816:p.Asn255del					PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	p.N255del	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)	6	929_931	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	255			Interaction with FLOT1.		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	In_Frame_Del	DEL	ENST00000601675.1	37	c.759_761delCAA	CCDS12782.1																																																																																				0.616	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465347.1	NM_017432	
LILRB5	10990	broad.mit.edu	37	19	54758761	54758761	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:54758761C>T	ENST00000316219.5	-	6	1199	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	LILRB5_ENST00000449561.2_Silent_p.P364P|LILRB5_ENST00000450632.1_Silent_p.P355P|LILRB5_ENST00000345866.6_Silent_p.P264P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	364	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547																																						uc010yer.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1063-1065)ccG>ccA		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.							74.0	73.0	73.0					19																	54758761		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54758761C>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1092G>A	19.37:g.54758761C>T						LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P364P|LILRB5_uc002qez.3_Silent_p.P264P|LILRB5_uc002qex.3_Silent_p.P364P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_Non-coding_Transcript	p.P355P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	1176	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		364	L -> S (in Ref. 2; BAB71361).		Ig-like C2-type 4.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.1065G>A	CCDS12885.1																																																																																				0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2		
TNNT1	7138	broad.mit.edu	37	19	55648558	55648558	+	Missense_Mutation	SNP	C	C	T	rs376309451		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:55648558C>T	ENST00000588981.1	-	11	728	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000587465.2_Missense_Mutation_p.R105Q|TNNT1_ENST00000588426.1_Missense_Mutation_p.R72Q|TNNT1_ENST00000587758.1_Missense_Mutation_p.R164Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R164Q|TNNT1_ENST00000585321.2_Missense_Mutation_p.R105Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R164Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.R175Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	175					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCCGTCTGCCGCTTACCACG	0.627																																						uc002qjb.4																			0				endometrium(2)|kidney(3)|lung(4)|ovary(1)	10						c.(523-525)cGg>cAg		Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	66.0	49.0	55.0		524,491,524	4.2	1.0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	TNNT1	NM_001126132.1,NM_001126133.1,NM_003283.4	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	175/263,164/252,175/279	55648558	1,13005	2203	4300	6503	SO:0001583	missense	7138				muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	g.chr19:55648558C>T		CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.524G>A	19.37:g.55648558C>T	ENSP00000467176:p.Arg175Gln					TNNT1_uc002qjc.4_Missense_Mutation_p.R175Q|TNNT1_uc002qje.4_Missense_Mutation_p.R164Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R164Q	p.R175Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)	10	613	-			175					O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	ENST00000588981.1	37	c.524G>A	CCDS12917.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.120364	0.77323	0.0	1.16E-4	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693	D;D;D	0.94497	-3.44;-3.44;-3.44	4.15	4.15	0.48705	.	0.150605	0.42294	D	0.000722	D	0.95962	0.8685	M	0.85542	2.76	0.42202	D	0.991773	D;D;D;D	0.69078	0.993;0.997;0.994;0.993	P;P;P;P	0.57009	0.576;0.771;0.811;0.576	D	0.95876	0.8895	10	0.87932	D	0	-13.6842	8.2282	0.31582	0.0:0.8879:0.0:0.1121	.	164;175;175;164	P13805-2;P13805-3;P13805;F5H1H4	.;.;TNNT1_HUMAN;.	Q	175;164;164;105	ENSP00000291901:R175Q;ENSP00000349233:R164Q;ENSP00000439640:R164Q	ENSP00000291901:R175Q	R	-	2	0	TNNT1	60340370	0.816000	0.29132	0.996000	0.52242	0.824000	0.46624	1.439000	0.35013	2.047000	0.60756	0.484000	0.47621	CGG		0.627	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451825.2	NM_003283	
PNPT1	87178	broad.mit.edu	37	2	55874482	55874482	+	Splice_Site	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:55874482C>G	ENST00000447944.2	-	19	1688	c.1602G>C	c.(1600-1602)ttG>ttC	p.L534F		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	534					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATACTTGCCAAAATATCTG	0.308																																						uc002rzf.2																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27						c.e19+1		Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.							78.0	81.0	80.0					2																	55874482		2203	4300	6503	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55874482C>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1602+1G>C	2.37:g.55874482C>G							p.L534_splice	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		19	1655	-			534					Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	ENST00000447944.2	37	c.1602_splice	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.669300	0.88348	.	.	ENSG00000138035	ENST00000447944	T	0.43294	0.95	5.54	5.54	0.83059	Exoribonuclease, phosphorolytic domain 2 (2);	0.000000	0.64402	D	0.000001	T	0.77322	0.4113	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83824	0.0248	10	0.62326	D	0.03	-10.5607	19.831	0.96636	0.0:1.0:0.0:0.0	.	534	Q8TCS8	PNPT1_HUMAN	F	534	ENSP00000400646:L534F	ENSP00000386075:L534F	L	-	3	2	PNPT1	55727986	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.073000	0.64395	2.755000	0.94549	0.563000	0.77884	TTG		0.308	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Missense_Mutation
SLC5A7	60482	broad.mit.edu	37	2	108625088	108625088	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:108625088G>A	ENST00000264047.2	+	8	1339	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	SLC5A7_ENST00000540517.1_Missense_Mutation_p.A250T|SLC5A7_ENST00000409059.1_Missense_Mutation_p.A355T	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	355					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATCTTGTCAGCAAGTTCCAT	0.413																																						uc002tdv.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1063-1065)Gca>Aca		Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	Choline(DB00122)						155.0	133.0	140.0					2																	108625088		2203	4300	6503	SO:0001583	missense	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108625088G>A	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1063G>A	2.37:g.108625088G>A	ENSP00000264047:p.Ala355Thr					SLC5A7_uc010ywm.2_Missense_Mutation_p.A108T|SLC5A7_uc010fjj.3_Missense_Mutation_p.A355T|SLC5A7_uc010ywn.2_Missense_Mutation_p.A242T	p.A355T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN			7	1339	+			355					Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	c.1063G>A	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	36	5.728298	0.96856	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.90197	-2.63;-2.63;-2.63	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.93943	0.8061	M	0.74467	2.265	0.80722	D	1	P	0.45474	0.859	P	0.54706	0.759	D	0.91980	0.5594	10	0.30078	T	0.28	-18.7939	19.8024	0.96513	0.0:0.0:1.0:0.0	.	355	Q9GZV3	SC5A7_HUMAN	T	355;250;355	ENSP00000387346:A355T;ENSP00000445351:A250T;ENSP00000264047:A355T	ENSP00000264047:A355T	A	+	1	0	SLC5A7	107991520	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	GCA		0.413	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						uc002ths.2																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	central_nervous_system(1)	1						c.(5278-5280)Cct>Gct		Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	84220				intracellular transport	cytoplasm	binding	g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD5_uc010fkk.2_Missense_Mutation_p.P1620A	p.P1760A	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN			22	5470	-			1760					Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	
CKAP2L	150468	broad.mit.edu	37	2	113504041	113504041	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:113504041C>A	ENST00000302450.6	-	6	1792	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CKAP2L_ENST00000541405.1_Missense_Mutation_p.D407Y	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	572						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CCAATAACATCAAAGGTGCCT	0.373																																						uc002tie.2																			0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1714-1716)Gat>Tat		Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.							184.0	180.0	181.0					2																	113504041		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113504041C>A	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1714G>T	2.37:g.113504041C>A	ENSP00000305204:p.Asp572Tyr					CKAP2L_uc002tif.2_Missense_Mutation_p.D161Y|CKAP2L_uc010yxp.1_Missense_Mutation_p.D407Y	p.D572Y	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			5	1793	-			572					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.1714G>T	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.209907	0.79240	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.26067	1.76;1.76	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.77103	2.36	0.43808	D	0.996361	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.55648	-0.8108	10	0.87932	D	0	-24.2067	18.0409	0.89318	0.0:1.0:0.0:0.0	.	161;572	Q8IYA6-2;Q8IYA6	.;CKP2L_HUMAN	Y	407;572	ENSP00000438763:D407Y;ENSP00000305204:D572Y	ENSP00000305204:D572Y	D	-	1	0	CKAP2L	113220512	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.682000	0.61671	2.850000	0.98022	0.650000	0.86243	GAT		0.373	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515	
ABCB11	8647	broad.mit.edu	37	2	169791877	169791877	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:169791877C>T	ENST00000263817.6	-	23	2997	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	958	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		R -> Q. {ECO:0000269|PubMed:16763017}.		bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TTCAATGAACCGCCTCTCCTT	0.448																																						uc002ueo.1																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57						c.(2872-2874)cGg>cAg		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)						141.0	136.0	138.0					2																	169791877		1892	4120	6012	SO:0001583	missense	8647				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism	g.chr2:169791877C>T	AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"""ATP binding cassette transporters / subfamily B"""	42	protein-coding gene	gene with protein product	"""ABC member 16, MDR/TAP subfamily"""	603201	"""progressive familial intrahepatic cholestasis 2"", ""bile salt export pump"""	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.2873G>A	2.37:g.169791877C>T	ENSP00000263817:p.Arg958Gln					ABCB11_uc010zda.1_Missense_Mutation_p.R400Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R434Q	p.R958Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN			22	2999	-			958		R -> Q.	ABC transmembrane type-1 2.		Q53TL2|Q9UNB2	Missense_Mutation	SNP	ENST00000263817.6	37	c.2873G>A	CCDS46444.1	.	.	.	.	.	.	.	.	.	.	C	10.37	1.331052	0.24167	.	.	ENSG00000073734	ENST00000263817	D	0.88975	-2.45	5.68	-0.235	0.13071	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	1.717000	0.02838	N	0.127650	T	0.78097	0.4230	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12156	0.007;0.007	T	0.62651	-0.6809	10	0.30078	T	0.28	.	2.626	0.04929	0.097:0.2325:0.1799:0.4907	.	400;958	B4DZQ8;O95342	.;ABCBB_HUMAN	Q	958	ENSP00000263817:R958Q	ENSP00000263817:R958Q	R	-	2	0	ABCB11	169500123	0.000000	0.05858	0.005000	0.12908	0.665000	0.39181	-0.719000	0.04974	-0.109000	0.12044	-0.136000	0.14681	CGG		0.448	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333616.2	NM_003742	
FZD5	7855	broad.mit.edu	37	2	208632195	208632195	+	Silent	SNP	G	G	A	rs35642228		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:208632195G>A	ENST00000295417.3	-	2	1822	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	423					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGAGCGACACGAAGCCCGCCA	0.637																																						uc021vvr.1																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1267-1269)ttC>ttT		Homo sapiens frizzled family receptor 5 (FZD5), mRNA.							43.0	43.0	43.0					2																	208632195		2203	4300	6503	SO:0001819	synonymous_variant	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632195G>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1269C>T	2.37:g.208632195G>A						FZD5_uc002vcj.3_Silent_p.F423F	p.F423F	NM_003468	NP_003459	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	0	1269	-			423					A8K2X1|B2RCZ1|Q53R22	Silent	SNP	ENST00000295417.3	37	c.1269C>T	CCDS33366.1																																																																																				0.637	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468	
RBM44	375316	broad.mit.edu	37	2	238727201	238727201	+	Missense_Mutation	SNP	G	G	A	rs558399203		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:238727201G>A	ENST00000409864.1	+	3	1896	c.1642G>A	c.(1642-1644)Gtt>Att	p.V548I	RBM44_ENST00000316997.4_Missense_Mutation_p.V548I|RBM44_ENST00000444524.2_Intron			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	547						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATCTCTCTCCGTTGACAGTTT	0.308													G|||	1	0.000199681	0.0	0.0	5008	,	,		17642	0.0		0.0	False		,,,				2504	0.001					uc002vxi.4																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1642-1644)Gtt>Att		Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.							27.0	24.0	25.0					2																	238727201		1812	4066	5878	SO:0001583	missense	375316						nucleotide binding|RNA binding	g.chr2:238727201G>A	AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"""RNA binding motif (RRM) containing"""	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.1642G>A	2.37:g.238727201G>A	ENSP00000386727:p.Val548Ile						p.V548I	NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)	2	1774	+		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	547					A0AUW3	Missense_Mutation	SNP	ENST00000409864.1	37	c.1642G>A	CCDS46554.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415243	0.25552	.	.	ENSG00000177483	ENST00000316997;ENST00000409864	T;T	0.24151	1.87;1.87	5.74	2.85	0.33270	.	0.966838	0.08521	N	0.933415	T	0.20941	0.0504	M	0.63428	1.95	0.09310	N	1	P	0.44659	0.84	B	0.28385	0.089	T	0.17992	-1.0351	10	0.44086	T	0.13	-3.1072	7.3135	0.26488	0.0899:0.3278:0.5823:0.0	.	547	Q6ZP01	RBM44_HUMAN	I	548	ENSP00000321179:V548I;ENSP00000386727:V548I	ENSP00000321179:V548I	V	+	1	0	RBM44	238391940	0.000000	0.05858	0.015000	0.15790	0.836000	0.47400	0.346000	0.19997	0.300000	0.22699	0.591000	0.81541	GTT		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328733.2	NM_001080504	
SNRPB2	6629	broad.mit.edu	37	20	16721056	16721056	+	Silent	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:16721056T>C	ENST00000246071.6	+	6	732	c.516T>C	c.(514-516)aaT>aaC	p.N172N	SNRPB2_ENST00000377943.5_Silent_p.N172N	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B	172	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						TGCTGTTTAATCAGTAAGTTT	0.348																																						uc002wph.2																			0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.(514-516)aaT>aaC		Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.							101.0	102.0	101.0					20																	16721056		2201	4300	6501	SO:0001819	synonymous_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16721056T>C		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.516T>C	20.37:g.16721056T>C						SNRPB2_uc002wpi.2_Silent_p.N172N	p.N172N	NM_003092	NP_937863	P08579	RU2B_HUMAN			5	752	+			172			RRM 2.		B2R7J3|D3DW21|Q9UJD4	Silent	SNP	ENST00000246071.6	37	c.516T>C	CCDS13123.1																																																																																				0.348	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	NM_003092	
NKX2-4	644524	broad.mit.edu	37	20	21377636	21377636	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:21377636G>A	ENST00000351817.4	-	1	1030	c.402C>T	c.(400-402)acC>acT	p.T134T	RP11-227D2.3_ENST00000552439.1_RNA|RP11-227D2.3_ENST00000419666.2_RNA	NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	134					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|upper_aerodigestive_tract(1)	3						CGTACCAGCCGGTGGCCGCGC	0.736																																						uc010gcz.3																			0				lung(2)|upper_aerodigestive_tract(1)	3						c.(400-402)acC>acT		Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.							3.0	4.0	3.0					20																	21377636		1392	3254	4646	SO:0001819	synonymous_variant	644524				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:21377636G>A		CCDS42855.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125816	ENSG00000125816		"""Homeoboxes / ANTP class : NKL subclass"""	7837	protein-coding gene	gene with protein product		607808	"""NK-2 (Drosophila) homolog D"", ""NK2 transcription factor related, locus 4 (Drosophila)"""	NKX2D		1346742, 10818213	Standard	NM_033176		Approved	NKX2.4	uc010gcz.3	Q9H2Z4	OTTHUMG00000032022	ENST00000351817.4:c.402C>T	20.37:g.21377636G>A							p.T134T	NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN			0	412	-			134					Q5VZV8	Silent	SNP	ENST00000351817.4	37	c.402C>T	CCDS42855.1																																																																																				0.736	NKX2-4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078270.2		
CST9	128822	broad.mit.edu	37	20	23584188	23584188	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:23584188C>T	ENST00000376971.3	-	2	450	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	147						extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TCAGCTGCTCCTGTGCCCACA	0.577																																						uc002wtl.3																			0				central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(439-441)Gga>Aga		Homo sapiens cystatin 9 (testatin) (CST9), mRNA.							146.0	107.0	120.0					20																	23584188		2203	4300	6503	SO:0001583	missense	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23584188C>T	AF494536	CCDS33450.1	20p11.21	2012-08-14			ENSG00000173335	ENSG00000173335			13261	protein-coding gene	gene with protein product						20565543	Standard	NM_001008693		Approved	CLM, CTES7A	uc002wtl.3	Q5W186	OTTHUMG00000032076	ENST00000376971.3:c.439G>A	20.37:g.23584188C>T	ENSP00000366170:p.Gly147Arg						p.G147R	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			1	548	-	Colorectal(13;0.0993)		147					B2RP76|Q8TD53	Missense_Mutation	SNP	ENST00000376971.3	37	c.439G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723652	0.30593	.	.	ENSG00000173335	ENST00000376971	D	0.89875	-2.58	1.85	-1.5	0.08691	.	2.328760	0.02505	N	0.090949	T	0.72301	0.3443	N	0.08118	0	0.09310	N	1	P	0.41597	0.756	B	0.25506	0.061	T	0.68845	-0.5301	10	0.66056	D	0.02	.	5.1188	0.14849	0.0:0.4071:0.0:0.5929	.	147	Q5W186	CST9_HUMAN	R	147	ENSP00000366170:G147R	ENSP00000366170:G147R	G	-	1	0	CST9	23532188	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.066000	0.14489	-0.412000	0.07519	-0.291000	0.09656	GGA		0.577	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1	NM_001008693.1	
TPTE	7179	broad.mit.edu	37	21	10906911	10906911	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr21:10906911G>A	ENST00000361285.4	-	24	1979	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_ENST00000298232.7_Silent_p.S532S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S512S	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398																																						uc002yip.1																			2	Substitution - coding silent(2)	p.S550S(1)|p.S532S(1)	endometrium(2)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(1648-1650)tcC>tcT		Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.							129.0	114.0	119.0					21																	10906911		2203	4300	6503	SO:0001819	synonymous_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10906911G>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1650C>T	21.37:g.10906911G>A						TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S	p.S550S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	23	2018	-			550					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Silent	SNP	ENST00000361285.4	37	c.1650C>T	CCDS13560.2																																																																																				0.398	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
CELSR1	9620	broad.mit.edu	37	22	46932243	46932243	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr22:46932243G>A	ENST00000262738.3	-	1	824	c.825C>T	c.(823-825)ggC>ggT	p.G275G	CELSR1_ENST00000395964.1_Silent_p.G275G|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	275	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTCCTCCTCGCCCTCGATGG	0.632																																						uc003bhw.1																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(823-825)ggC>ggT		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.							51.0	47.0	48.0					22																	46932243		2202	4299	6501	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46932243G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.825C>T	22.37:g.46932243G>A							p.G275G	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	0	825	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	275			Cadherin 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.825C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246	
DLEC1	9940	broad.mit.edu	37	3	38153750	38153750	+	Silent	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38153750T>C	ENST00000308059.6	+	25	3585	c.3564T>C	c.(3562-3564)ccT>ccC	p.P1188P	DLEC1_ENST00000452631.2_Silent_p.P1191P|DLEC1_ENST00000346219.3_Silent_p.P1188P					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTTCTTCCCTCACTTTTCCC	0.572																																						uc003chp.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51						c.(3562-3564)ccT>ccC		Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.							106.0	112.0	110.0					3																	38153750		2027	4170	6197	SO:0001819	synonymous_variant	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38153750T>C	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.3564T>C	3.37:g.38153750T>C						DLEC1_uc003cho.1_Silent_p.P1188P|DLEC1_uc010hgv.1_Silent_p.P1191P|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript	p.P1188P	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	24	3585	+			1188						Silent	SNP	ENST00000308059.6	37	c.3564T>C	CCDS2672.2																																																																																				0.572	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
SCN5A	6331	broad.mit.edu	37	3	38591818	38591818	+	Silent	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38591818G>A	ENST00000333535.4	-	28	6194	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	SCN5A_ENST00000413689.1_Silent_p.I2015I|SCN5A_ENST00000450102.2_Silent_p.I1961I|SCN5A_ENST00000443581.1_Silent_p.I2014I|SCN5A_ENST00000414099.2_Silent_p.I1997I|SCN5A_ENST00000425664.1_Silent_p.I1997I|SCN5A_ENST00000423572.2_Silent_p.I2014I|SCN5A_ENST00000455624.2_Silent_p.I1982I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Silent_p.I1961I|SCN5A_ENST00000451551.2_Silent_p.I1961I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	2015					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AGGCTCACACGATGGACTCAC	0.592																																						uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(6043-6045)atC>atT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						72.0	74.0	74.0					3																	38591818		2022	4184	6206	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38591818G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.6045C>T	3.37:g.38591818G>A						SCN5A_uc021wvk.1_Silent_p.I1982I|SCN5A_uc021wvl.1_Silent_p.I1961I|SCN5A_uc021wvm.1_Silent_p.I1997I|SCN5A_uc021wvn.1_Silent_p.I2014I|SCN5A_uc021wvp.1_Silent_p.I2015I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1827I|SCN5A_uc021wvi.1_Silent_p.I1881I	p.I2015I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	26	6097	-	Medulloblastoma(35;0.163)		2015					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.6045C>T	CCDS46796.1																																																																																				0.592	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
PBRM1	55193	broad.mit.edu	37	3	52598198	52598198	+	Missense_Mutation	SNP	T	T	C			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:52598198T>C	ENST00000296302.7	-	23	3744	c.3743A>G	c.(3742-3744)gAa>gGa	p.E1248G	PBRM1_ENST00000337303.4_Missense_Mutation_p.E1248G|PBRM1_ENST00000356770.4_Missense_Mutation_p.E1216G|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1263G|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1248G|PBRM1_ENST00000394830.3_Missense_Mutation_p.E1223G|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1263G|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1223G			Q86U86	PB1_HUMAN	polybromo 1	1248	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTGGTATTTCAGTTGGCCT	0.408			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(3742-3744)gAa>gGa		Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.							97.0	95.0	96.0					3																	52598198		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52598198T>C	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3743A>G	3.37:g.52598198T>C	ENSP00000296302:p.Glu1248Gly					PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E1248G|PBRM1_uc003der.2_Missense_Mutation_p.E1216G|PBRM1_uc003det.2_Missense_Mutation_p.E1263G|PBRM1_uc003deu.2_Missense_Mutation_p.E1263G|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E1248G|PBRM1_uc010hmk.1_Missense_Mutation_p.E1223G|PBRM1_uc003dey.2_Missense_Mutation_p.E1223G|PBRM1_uc003dez.1_Missense_Mutation_p.E1247G	p.E1248G	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	22	3755	-			1248			BAH 2.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.3743A>G		.	.	.	.	.	.	.	.	.	.	T	26.0	4.691848	0.88735	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.43	5.43	0.79202	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.88168	0.6364	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;0.996;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.997;0.986;0.996;0.991;0.999;1.0;0.996;0.994	D	0.89820	0.3988	10	0.87932	D	0	-15.4527	15.51	0.75772	0.0:0.0:0.0:1.0	.	1223;1223;1248;1263;1263;1248;1216;1248	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	G	1216;1223;1248;1248;1248;1223;1263;1263;1247	ENSP00000349213:E1216G;ENSP00000378307:E1223G;ENSP00000296302:E1248G;ENSP00000338302:E1248G;ENSP00000386593:E1248G;ENSP00000386529:E1223G;ENSP00000386643:E1263G;ENSP00000386601:E1263G;ENSP00000387775:E1247G	ENSP00000296302:E1248G	E	-	2	0	PBRM1	52573238	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.139000	0.71728	2.062000	0.61559	0.533000	0.62120	GAA		0.408	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
UBA3	9039	broad.mit.edu	37	3	69120763	69120763	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:69120763C>T	ENST00000361055.4	-	5	324	c.270G>A	c.(268-270)ttG>ttA	p.L90L	UBA3_ENST00000415609.2_Silent_p.L49L|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000349511.4_Silent_p.L76L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	90					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAAAACCAGACAAGGCCTGTG	0.313																																						uc003dno.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						c.(268-270)ttG>ttA		Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.							35.0	37.0	36.0					3																	69120763		2202	4288	6490	SO:0001819	synonymous_variant	9039				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity	g.chr3:69120763C>T	AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.270G>A	3.37:g.69120763C>T						UBA3_uc003dnq.3_Silent_p.L76L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron	p.L90L	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)	4	290	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	90					A6NLB5|A8K027|O76088|Q9NTU3	Silent	SNP	ENST00000361055.4	37	c.270G>A	CCDS2909.1																																																																																				0.313	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334839.1	NM_198195	
SENP7	57337	broad.mit.edu	37	3	101080632	101080632	+	Missense_Mutation	SNP	T	T	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:101080632T>G	ENST00000394095.2	-	11	1603	c.1550A>C	c.(1549-1551)gAt>gCt	p.D517A	SENP7_ENST00000314261.7_Missense_Mutation_p.D451A|SENP7_ENST00000348610.3_Missense_Mutation_p.D484A|SENP7_ENST00000358203.3_Missense_Mutation_p.D353A|SENP7_ENST00000394091.1_Missense_Mutation_p.D353A|SENP7_ENST00000394094.2_Missense_Mutation_p.D452A	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	517						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGTTGTAGATCCATCTCATT	0.289																																						uc003dut.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1549-1551)gAt>gCt		Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.							54.0	55.0	55.0					3																	101080632		2200	4265	6465	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101080632T>G		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1550A>C	3.37:g.101080632T>G	ENSP00000377655:p.Asp517Ala					SENP7_uc003duu.3_Missense_Mutation_p.D452A|SENP7_uc003duv.3_Missense_Mutation_p.D484A|SENP7_uc003duw.3_Missense_Mutation_p.D451A|SENP7_uc003dux.3_Missense_Mutation_p.D353A	p.D517A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			10	1661	-			517					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.1550A>C	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	14.22	2.468989	0.43839	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.21031	2.03;2.07;2.07;2.07;2.07;2.04	5.71	3.29	0.37713	.	0.590784	0.17429	N	0.174537	T	0.15869	0.0382	L	0.27053	0.805	0.26402	N	0.976404	P;P;P;P	0.43662	0.775;0.814;0.814;0.717	B;B;B;B	0.42214	0.356;0.38;0.38;0.251	T	0.06752	-1.0809	10	0.33141	T	0.24	-1.0853	10.0851	0.42412	0.0:0.0:0.3619:0.6381	.	353;451;484;517	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	A	517;452;451;353;353;484	ENSP00000377655:D517A;ENSP00000377654:D452A;ENSP00000313624:D451A;ENSP00000377651:D353A;ENSP00000350936:D353A;ENSP00000342159:D484A	ENSP00000313624:D451A	D	-	2	0	SENP7	102563322	0.820000	0.29190	0.982000	0.44146	0.977000	0.68977	0.236000	0.17967	0.418000	0.25898	-0.461000	0.05368	GAT		0.289	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	
PIK3CA	5290	broad.mit.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	rs121913274		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		178	Substitution - Missense(178)	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)gAg>gCg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							61.0	61.0	61.0					3																	178936092		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936092A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1634A>C	3.37:g.178936092A>C	ENSP00000263967:p.Glu545Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545A	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1791	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1634A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555316	0.86231	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.71074	0.3297	L	0.43757	1.38	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.69109	-0.5232	10	0.34782	T	0.22	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	A	545	ENSP00000263967:E545A	ENSP00000263967:E545A	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TTC14	151613	broad.mit.edu	37	3	180321035	180321035	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:180321035G>A	ENST00000296015.4	+	3	542	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	TTC14_ENST00000412756.2_Missense_Mutation_p.R137Q|RP11-496B10.3_ENST00000472596.1_lincRNA|TTC14_ENST00000382584.4_Missense_Mutation_p.R137Q	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	137	S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.						RNA binding (GO:0003723)	p.R137Q(1)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTCTATTCGGGAATTCGGT	0.373																																						uc003fkk.3																			1	Substitution - Missense(1)	p.R137Q(2)	large_intestine(1)	endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45						c.(409-411)cGg>cAg		Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.							248.0	231.0	237.0					3																	180321035		2203	4300	6503	SO:0001583	missense	151613						RNA binding	g.chr3:180321035G>A	AB075860	CCDS3237.1, CCDS46963.1, CCDS75055.1	3q27.2	2013-01-10			ENSG00000163728	ENSG00000163728		"""Tetratricopeptide (TTC) repeat domain containing"""	24697	protein-coding gene	gene with protein product						11853319	Standard	NM_001042601		Approved	FLJ00166, KIAA1980	uc003fkk.3	Q96N46	OTTHUMG00000157859	ENST00000296015.4:c.410G>A	3.37:g.180321035G>A	ENSP00000296015:p.Arg137Gln					TTC14_uc003fkl.3_Missense_Mutation_p.R137Q|TTC14_uc003fkm.2_Missense_Mutation_p.R137Q	p.R137Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		2	542	+	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		137			S1 motif.		G5E9X0|Q6UWJ7|Q8TF22	Missense_Mutation	SNP	ENST00000296015.4	37	c.410G>A	CCDS3237.1	.	.	.	.	.	.	.	.	.	.	G	35	5.429375	0.96131	.	.	ENSG00000163728	ENST00000296015;ENST00000491380;ENST00000412756;ENST00000382584;ENST00000492617;ENST00000495660	T;T	0.49432	0.78;0.81	5.71	5.71	0.89125	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64918	0.2642	L	0.46157	1.445	0.80722	D	1	P;D;D	0.89917	0.923;0.963;1.0	P;P;D	0.80764	0.479;0.518;0.994	T	0.63989	-0.6512	10	0.56958	D	0.05	-9.132	19.8449	0.96704	0.0:0.0:1.0:0.0	.	137;137;137	Q96N46-2;G5E9X0;Q96N46	.;.;TTC14_HUMAN	Q	137;137;137;137;37;37	ENSP00000296015:R137Q;ENSP00000372027:R137Q	ENSP00000296015:R137Q	R	+	2	0	TTC14	181803729	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.213000	0.95133	2.680000	0.91292	0.655000	0.94253	CGG		0.373	TTC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349786.1	NM_133462	
ACAP2	23527	broad.mit.edu	37	3	195015481	195015481	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:195015481A>G	ENST00000326793.6	-	18	1962	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	578					cellular response to nerve growth factor stimulus (GO:1990090)|protein localization to endosome (GO:0036010)|regulation of ARF GTPase activity (GO:0032312)	endosome membrane (GO:0010008)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GACACCGTGGAGGGTAAAGAT	0.368																																						uc003fun.4																			0				cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(1732-1734)Tcc>Ccc		Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.							87.0	86.0	87.0					3																	195015481		2203	4300	6503	SO:0001583	missense	23527				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr3:195015481A>G		CCDS33924.1	3q29	2013-01-10	2008-09-22	2008-09-22	ENSG00000114331	ENSG00000114331		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16469	protein-coding gene	gene with protein product		607766	"""centaurin, beta 2"""	CENTB2		11050434, 11062263	Standard	NM_012287		Approved	KIAA0041, CNT-B2	uc003fun.4	Q15057	OTTHUMG00000155885	ENST00000326793.6:c.1732T>C	3.37:g.195015481A>G	ENSP00000324287:p.Ser578Pro						p.S578P	NM_012287	NP_036419	Q15057	ACAP2_HUMAN			17	1973	-			578					A8K2V4|Q8N5Z8|Q9UQR3	Missense_Mutation	SNP	ENST00000326793.6	37	c.1732T>C	CCDS33924.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.65|14.65	2.599727|2.599727	0.46318|0.46318	.|.	.|.	ENSG00000114331|ENSG00000114331	ENST00000450200|ENST00000326793	.|T	.|0.47869	.|0.83	5.79|5.79	5.79|5.79	0.91817|0.91817	.|Ankyrin repeat-containing domain (1);	.|0.455157	.|0.25810	.|N	.|0.028143	T|T	0.32823|0.32823	0.0842|0.0842	L|L	0.29908|0.29908	0.895|0.895	0.37192|0.37192	D|D	0.903989|0.903989	.|P	.|0.36535	.|0.557	.|B	.|0.31547	.|0.132	T|T	0.37033|0.37033	-0.9723|-0.9723	5|10	.|0.30854	.|T	.|0.27	.|.	11.3298|11.3298	0.49468|0.49468	0.8482:0.1518:0.0:0.0|0.8482:0.1518:0.0:0.0	.|.	.|578	.|Q15057	.|ACAP2_HUMAN	P|P	171|578	.|ENSP00000324287:S578P	.|ENSP00000324287:S578P	L|S	-|-	2|1	0|0	ACAP2|ACAP2	196496770|196496770	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.987000|0.987000	0.75469|0.75469	3.425000|3.425000	0.52771|0.52771	2.218000|2.218000	0.71995|0.71995	0.533000|0.533000	0.62120|0.62120	CTC|TCC		0.368	ACAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342126.2	NM_012287	
TLR6	10333	broad.mit.edu	37	4	38830189	38830189	+	Silent	SNP	C	C	T	rs371809071		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:38830189C>T	ENST00000381950.1	-	1	971	c.906G>A	c.(904-906)acG>acA	p.T302T	TLR6_ENST00000436693.2_Silent_p.T302T			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCAATGTCGTTTTAGAAT	0.318																																						uc010ifg.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(904-906)acG>acA		Homo sapiens toll-like receptor 6 (TLR6), mRNA.		C		1,4403	2.1+/-5.4	0,1,2201	62.0	65.0	64.0		906	-9.5	0.0	4		64	0,8598		0,0,4299	no	coding-synonymous	TLR6	NM_006068.4		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		302/797	38830189	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	10333				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity	g.chr4:38830189C>T		CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.906G>A	4.37:g.38830189C>T						TLR6_uc003gtm.3_Silent_p.T302T	p.T302T	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN			1	1027	-			302					B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Silent	SNP	ENST00000381950.1	37	c.906G>A	CCDS3446.1																																																																																				0.318	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1		
CENPC	1060	broad.mit.edu	37	4	68396616	68396616	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:68396616G>A	ENST00000273853.6	-	5	498	c.248C>T	c.(247-249)cCa>cTa	p.P83L		NM_001812.2	NP_001803.2	Q03188	CENPC_HUMAN	centromere protein C	83					chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	centromeric DNA binding (GO:0019237)|DNA binding (GO:0003677)										AACTGACTTTGGATGTGATTT	0.363																																						uc003hdd.1																			0				NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(247-249)cCa>cTa		Homo sapiens centromere protein C 1 (CENPC1), mRNA.							65.0	61.0	62.0					4																	68396616		1809	4072	5881	SO:0001583	missense	1060				mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	g.chr4:68396616G>A	M95724	CCDS47063.1	4q13.2	2013-11-05	2013-07-03	2013-07-03	ENSG00000145241	ENSG00000145241			1854	protein-coding gene	gene with protein product		117141	"""centromere protein C 1"""	CENPC1		7959789	Standard	XR_245245		Approved	CENP-C, hcp-4, MIF2	uc003hdd.1	Q03188	OTTHUMG00000160735	ENST00000273853.6:c.248C>T	4.37:g.68396616G>A	ENSP00000273853:p.Pro83Leu					CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P83L	p.P83L	NM_001812	NP_001803	Q03188	CENPC_HUMAN			4	431	-			83					Q8IW27|Q9P0M5	Missense_Mutation	SNP	ENST00000273853.6	37	c.248C>T	CCDS47063.1	.	.	.	.	.	.	.	.	.	.	G	6.287	0.421126	0.11928	.	.	ENSG00000145241	ENST00000273853	.	.	.	4.37	2.63	0.31362	.	1.052800	0.07429	N	0.895300	T	0.28234	0.0697	N	0.22421	0.69	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.09377	0.004;0.004	T	0.23154	-1.0196	9	0.39692	T	0.17	0.249	5.4517	0.16568	0.1028:0.0:0.6996:0.1976	.	83;83	Q8IW27;Q03188	.;CENPC_HUMAN	L	83	.	ENSP00000273853:P83L	P	-	2	0	CENPC1	68079211	0.056000	0.20664	0.001000	0.08648	0.011000	0.07611	1.202000	0.32271	0.579000	0.29504	-0.169000	0.13324	CCA		0.363	CENPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362001.2		
UGT2B7	7364	broad.mit.edu	37	4	69978432	69978432	+	Missense_Mutation	SNP	C	C	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:69978432C>G	ENST00000305231.7	+	6	1614	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	UGT2B7_ENST00000508661.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	523					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GCTAGAAAAGCAAAGAAGGGA	0.378																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1567-1569)gCa>gGa		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							122.0	122.0	122.0					4																	69978432		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978432C>G	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1568C>G	4.37:g.69978432C>G	ENSP00000304811:p.Ala523Gly					UGT2B7_uc010ihq.3_3'UTR	p.A523G	NM_001074	NP_001065	P16662	UD2B7_HUMAN			5	1614	+			523					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1568C>G	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.443340	0.00180	.	.	ENSG00000171234	ENST00000305231	T	0.58797	0.31	2.13	1.26	0.21427	.	0.737531	0.11094	N	0.600429	T	0.16854	0.0405	N	0.00152	-1.975	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	9	.	.	.	.	8.033	0.30476	0.0:0.5089:0.4911:0.0	.	523	P16662	UD2B7_HUMAN	G	523	ENSP00000304811:A523G	.	A	+	2	0	UGT2B7	70013021	0.000000	0.05858	0.012000	0.15200	0.008000	0.06430	-0.321000	0.08018	0.235000	0.21160	-0.754000	0.03487	GCA		0.378	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074	
SHROOM3	57619	broad.mit.edu	37	4	77660381	77660381	+	Missense_Mutation	SNP	G	G	A	rs146652221	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:77660381G>A	ENST00000296043.6	+	5	2008	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	352					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATATTCCTCGGGGCAAGGGA	0.582																																						uc011cbx.2																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1054-1056)cGg>cAg		Homo sapiens shroom family member 3 (SHROOM3), mRNA.		G	GLN/ARG	4,4402	8.1+/-20.4	0,4,2199	54.0	58.0	57.0		1055	5.7	1.0	4	dbSNP_134	57	11,8589	8.4+/-32.0	0,11,4289	yes	missense	SHROOM3	NM_020859.3	43	0,15,6488	AA,AG,GG		0.1279,0.0908,0.1153	probably-damaging	352/1997	77660381	15,12991	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660381G>A	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.1055G>A	4.37:g.77660381G>A	ENSP00000296043:p.Arg352Gln					SHROOM3_uc011cbz.1_Missense_Mutation_p.R176Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R227Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R130Q	p.R352Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		4	2008	+			352					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.1055G>A	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	17.93	3.508687	0.64410	9.08E-4	0.001279	ENSG00000138771	ENST00000296043	T	0.53857	0.6	5.65	5.65	0.86999	.	0.659044	0.14305	N	0.328058	T	0.72317	0.3445	M	0.71581	2.175	0.35057	D	0.761152	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.65684	0.683;0.937;0.937	T	0.76862	-0.2802	10	0.62326	D	0.03	-16.7683	18.0832	0.89449	0.0:0.0:1.0:0.0	.	176;352;130	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	Q	352	ENSP00000296043:R352Q	ENSP00000296043:R352Q	R	+	2	0	SHROOM3	77879405	0.292000	0.24362	1.000000	0.80357	0.207000	0.24258	1.902000	0.39848	2.941000	0.99782	0.655000	0.94253	CGG		0.582	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859	
FRAS1	80144	broad.mit.edu	37	4	79351554	79351554	+	Missense_Mutation	SNP	G	G	A	rs377123833		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:79351554G>A	ENST00000325942.6	+	37	5392	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	FRAS1_ENST00000264895.6_Missense_Mutation_p.R1651Q	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1651					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGAGTTCCGAAGGCCGATG	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19442	0.0		0.0	False		,,,				2504	0.0					uc003hlb.2																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4951-4953)cGa>cAa		Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.		G	GLN/ARG,GLN/ARG	0,3894		0,0,1947	55.0	56.0	56.0		4952,4952	-9.2	0.0	4		56	2,8332		0,2,4165	no	missense,missense	FRAS1	NM_001166133.1,NM_025074.6	43,43	0,2,6112	AA,AG,GG		0.024,0.0,0.0164	benign,benign	1651/1977,1651/4013	79351554	2,12226	1947	4167	6114	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79351554G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4952G>A	4.37:g.79351554G>A	ENSP00000326330:p.Arg1651Gln					FRAS1_uc003hkw.3_Missense_Mutation_p.R1651Q|FRAS1_uc010ijj.2_Missense_Mutation_p.R71Q	p.R1651Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			36	5392	+			1650					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4952G>A	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	3.346	-0.133517	0.06711	0.0	2.4E-4	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.44083	0.93;0.93	5.68	-9.23	0.00672	.	0.879148	0.10254	N	0.696777	T	0.08268	0.0206	N	0.00246	-1.78	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.45279	-0.9272	10	0.02654	T	1	.	14.4841	0.67603	0.2163:0.6699:0.1138:0.0	.	1651;1651	E9PHH6;A2RRR8	.;.	Q	1651;1651;71	ENSP00000326330:R1651Q;ENSP00000264895:R1651Q	ENSP00000264895:R1651Q	R	+	2	0	FRAS1	79570578	0.010000	0.17322	0.000000	0.03702	0.000000	0.00434	0.621000	0.24418	-1.564000	0.01678	-1.543000	0.00907	CGA		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2		
ANK2	287	broad.mit.edu	37	4	114262932	114262932	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:114262932G>A	ENST00000357077.4	+	33	4035	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_ENST00000510275.2_5'Flank|ANK2_ENST00000504887.1_3'UTR|ANK2_ENST00000509550.1_Missense_Mutation_p.A504T|ANK2_ENST00000394537.3_Missense_Mutation_p.A1328T|ANK2_ENST00000506722.1_Missense_Mutation_p.A1319T|ANK2_ENST00000264366.6_Missense_Mutation_p.A1295T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1328	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCTTATATGGCCAAATTTGT	0.393																																						uc003ibe.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(3982-3984)Gcc>Acc		Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.							142.0	142.0	142.0					4																	114262932		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114262932G>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3982G>A	4.37:g.114262932G>A	ENSP00000349588:p.Ala1328Thr					ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T	p.A1328T	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	32	4082	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1295					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.3982G>A	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.208804|5.208804	0.95069|0.95069	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550|ENST00000514960;ENST00000504415	T;T;T;T;T;T;T|.	0.32272|.	1.46;1.46;1.46;1.46;1.46;1.46;1.46|.	5.68|5.68	4.83|4.83	0.62350|0.62350	.|.	0.116708|.	0.37623|.	N|.	0.002011|.	T|T	0.73953|0.73953	0.3653|0.3653	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;0.958;1.0;0.999;1.0;1.0|.	D;D;P;D;D;D;D|.	0.91635|.	0.982;0.998;0.835;0.998;0.991;0.999;0.999|.	T|T	0.74321|0.74321	-0.3703|-0.3703	10|5	0.72032|.	D|.	0.01|.	.|.	16.5465|16.5465	0.84448|0.84448	0.0:0.1309:0.8691:0.0|0.0:0.1309:0.8691:0.0	.|.	504;1295;374;340;1328;1328;1319|.	E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5|.	.;ANK2_HUMAN;.;.;.;.;.|.	T|D	1241;1319;374;1343;1328;1328;1295;1319;504|340;22	ENSP00000421011:A1241T;ENSP00000421067:A1319T;ENSP00000424722:A1343T;ENSP00000378044:A1328T;ENSP00000349588:A1328T;ENSP00000264366:A1295T;ENSP00000426944:A504T|.	ENSP00000264366:A1295T|.	A|G	+|+	1|2	0|0	ANK2|ANK2	114482381|114482381	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	1.370000|1.370000	0.46153|0.46153	0.591000|0.591000	0.81541|0.81541	GCC|GGC		0.393	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ARHGEF28	64283	broad.mit.edu	37	5	73128174	73128174	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:73128174G>A	ENST00000426542.2	+	9	1056	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	ARHGEF28_ENST00000287898.5_Missense_Mutation_p.D346N|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.D346N|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.D346N|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.D346N|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.D33N|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.D346N			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	346					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCGCTCCTTCGATATCCTAAA	0.423																																						uc010izf.3																			0											c.(1036-1038)Gat>Aat		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							94.0	82.0	86.0					5																	73128174		1849	4097	5946	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73128174G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1036G>A	5.37:g.73128174G>A	ENSP00000412175:p.Asp346Asn					RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	p.D346N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	9	1212	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	346					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1036G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262376	0.80358	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.13657	3.02;3.01;3.01;2.78;3.01;3.01;2.57	5.48	5.48	0.80851	.	.	.	.	.	T	0.36771	0.0979	M	0.71581	2.175	0.32242	N	0.572567	D;D;D;D;D	0.76494	0.993;0.998;0.997;0.999;0.999	P;P;P;P;P	0.62014	0.632;0.794;0.734;0.897;0.864	T	0.37337	-0.9710	9	0.72032	D	0.01	.	18.4797	0.90807	0.0:0.0:1.0:0.0	.	33;346;346;346;346	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	N	346;346;346;346;346;346;33	ENSP00000296794:D346N;ENSP00000441913:D346N;ENSP00000441436:D346N;ENSP00000287898:D346N;ENSP00000411459:D346N;ENSP00000412175:D346N;ENSP00000296799:D33N	ENSP00000287898:D346N	D	+	1	0	RP11-428C6.1	73163930	1.000000	0.71417	0.808000	0.32385	0.778000	0.44026	6.133000	0.71682	2.722000	0.93159	0.650000	0.86243	GAT		0.423	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
SLC36A2	153201	broad.mit.edu	37	5	150726999	150726999	+	Missense_Mutation	SNP	T	T	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:150726999T>A	ENST00000335244.4	-	1	152	c.23A>T	c.(22-24)gAg>gTg	p.E8V	SLC36A2_ENST00000521967.1_Missense_Mutation_p.E8V	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	8					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTGGGGACCCTCAGTACTTTT	0.493																																						uc003lty.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(22-24)gAg>gTg		Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.							149.0	149.0	149.0					5																	150726999		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150726999T>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.23A>T	5.37:g.150726999T>A	ENSP00000334223:p.Glu8Val					SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E8V|SLC36A2_uc011dct.1_Missense_Mutation_p.E8V	p.E8V	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		0	153	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	8					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.23A>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403261	0.25291	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10192	3.71;2.9	4.98	-3.63	0.04529	.	1.692360	0.02899	N	0.135128	T	0.06005	0.0156	N	0.08118	0	0.09310	N	1	B;B;B	0.33073	0.396;0.089;0.158	B;B;B	0.26770	0.073;0.032;0.035	T	0.33163	-0.9879	10	0.37606	T	0.19	6.9162	12.4753	0.55809	0.0:0.2277:0.0:0.7723	.	8;8;8	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	V	8	ENSP00000334223:E8V;ENSP00000430535:E8V	ENSP00000334223:E8V	E	-	2	0	SLC36A2	150707192	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.735000	0.01847	-0.685000	0.05177	-0.242000	0.12053	GAG		0.493	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1		
DSP	1832	broad.mit.edu	37	6	7575560	7575560	+	Silent	SNP	G	G	A	rs368945617		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:7575560G>A	ENST00000379802.3	+	18	2810	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	DSP_ENST00000418664.2_Silent_p.S823S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	823	Globular 1.				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)		TGAAGAAGTCGTTGTTGGCCA	0.393																																						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.(2467-2469)tcG>tcA		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.		G	,	0,4406		0,0,2203	124.0	124.0	124.0		2469,2469	-3.5	0.0	6		124	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	DSP	NM_001008844.1,NM_004415.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	823/2273,823/2872	7575560	1,13005	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.chr6:7575560G>A	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.2469G>A	6.37:g.7575560G>A						DSP_uc003mxq.1_Silent_p.S823S|DSP_uc021yle.1_Silent_p.S823S	p.S823S	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2748	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	823			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.2469G>A	CCDS4501.1																																																																																				0.393	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
RHAG	6005	broad.mit.edu	37	6	49582542	49582542	+	Missense_Mutation	SNP	C	C	A	rs77467572		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:49582542C>A	ENST00000371175.4	-	5	691	c.665G>T	c.(664-666)tGg>tTg	p.W222L	RHAG_ENST00000229810.7_Missense_Mutation_p.W222L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	222					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGCTGGGCCAAAACATCCA	0.463																																					Ovarian(176;476 2003 7720 43408 44749)	uc003ozk.4																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39						c.(664-666)tGg>tTg		Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.							138.0	129.0	132.0					6																	49582542		2203	4300	6503	SO:0001583	missense	6005				carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr6:49582542C>A		CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.665G>T	6.37:g.49582542C>A	ENSP00000360217:p.Trp222Leu					RHAG_uc010jzl.3_Missense_Mutation_p.W222L|RHAG_uc010jzm.3_Missense_Mutation_p.W222L	p.W222L	NM_000324	NP_000315	Q02094	RHAG_HUMAN			4	727	-	Lung NSC(77;0.0255)		222					B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Missense_Mutation	SNP	ENST00000371175.4	37	c.665G>T	CCDS4927.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982274	0.93044	.	.	ENSG00000112077	ENST00000371175;ENST00000229810;ENST00000418071;ENST00000539403	T;T	0.74002	-0.8;-0.8	5.76	5.76	0.90799	Ammonium transporter AmtB-like (3);	0.000000	0.85682	D	0.000000	D	0.89677	0.6784	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91753	0.5414	10	0.87932	D	0	-8.183	18.9695	0.92709	0.0:1.0:0.0:0.0	.	222;222;222	O43515;Q9UHG9;Q02094	.;.;RHAG_HUMAN	L	222	ENSP00000360217:W222L;ENSP00000229810:W222L	ENSP00000229810:W222L	W	-	2	0	RHAG	49690501	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.818000	0.86416	2.726000	0.93360	0.655000	0.94253	TGG		0.463	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043806.1		
COL9A1	1297	broad.mit.edu	37	6	70961988	70961988	+	Nonsense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:70961988G>A	ENST00000357250.6	-	27	1953	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	COL9A1_ENST00000370499.4_Nonsense_Mutation_p.Q356*|COL9A1_ENST00000320755.7_Nonsense_Mutation_p.Q356*|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	599	Collagen-like 6.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTCCCATCTGACCAGGCTTC	0.423																																						uc003pfg.4																			0		p.G598C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(1795-1797)Cag>Tag		Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.							119.0	116.0	117.0					6																	70961988		2203	4300	6503	SO:0001587	stop_gained	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70961988G>A		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1795C>T	6.37:g.70961988G>A	ENSP00000349790:p.Gln599*					COL9A1_uc003pfe.4_Nonsense_Mutation_p.Q172*|COL9A1_uc003pff.4_Nonsense_Mutation_p.Q356*	p.Q599*	NM_001851	NP_001842	P20849	CO9A1_HUMAN			26	1954	-			599			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Nonsense_Mutation	SNP	ENST00000357250.6	37	c.1795C>T	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999057	0.54147	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	.	.	.	5.66	3.79	0.43588	.	0.447975	0.25148	N	0.032765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	4.5876	0.12289	0.1644:0.2172:0.6184:0.0	.	.	.	.	X	599;356;356	.	ENSP00000315252:Q356X	Q	-	1	0	COL9A1	71018709	0.088000	0.21588	0.624000	0.29186	0.452000	0.32318	1.272000	0.33109	2.665000	0.90641	0.563000	0.77884	CAG		0.423	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
NEUROD6	63974	broad.mit.edu	37	7	31378634	31378635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:31378634_31378635insT	ENST00000297142.3	-	2	570_571	c.248_249insA	c.(247-249)aagfs	p.K83fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	83					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	nucleus (GO:0005634)	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)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GCTTTGTTGTCTTTTTTTTCCT	0.52																																						uc003tch.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						c.(247-249)aagfs		Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.																																				SO:0001589	frameshift_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378634_31378635insT	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.249dupA	7.37:g.31378642_31378642dupT	ENSP00000297142:p.Lys83fs					NEUROD6_uc022abi.1_Frame_Shift_Ins_p.K83fs	p.K83fs	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			1	601_602	-			83					Q548T9|Q9H3H6	Frame_Shift_Ins	INS	ENST00000297142.3	37	c.248_249insA	CCDS5434.1																																																																																				0.520	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728	
COL1A2	1278	broad.mit.edu	37	7	94039079	94039079	+	Silent	SNP	C	C	T	rs141762645	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:94039079C>T	ENST00000297268.6	+	19	1452	c.981C>T	c.(979-981)cgC>cgT	p.R327R		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	327					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGACCCCGCGGTATTCCTG	0.592										HNSCC(75;0.22)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		14100	0.0		0.0	False		,,,				2504	0.001					uc003ung.1																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(979-981)cgC>cgT		Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	Collagenase(DB00048)	C		3,4403	6.2+/-15.9	0,3,2200	102.0	101.0	101.0		981	-7.5	1.0	7	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	COL1A2	NM_000089.3		0,6,6497	TT,TC,CC		0.0349,0.0681,0.0461		327/1367	94039079	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039079C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.981C>T	7.37:g.94039079C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.R327R	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	1452	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		327					P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.981C>T	CCDS34682.1																																																																																				0.592	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
CNTNAP2	26047	broad.mit.edu	37	7	146536869	146536869	+	Missense_Mutation	SNP	G	G	A	rs138924087		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:146536869G>A	ENST00000361727.3	+	3	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	92	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R92Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGGCAATCGGAAGCAGATC	0.502										HNSCC(39;0.1)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17468	0.0		0.0	False		,,,				2504	0.0					uc003weu.2																			1	Substitution - Missense(1)	p.R92Q(2)	haematopoietic_and_lymphoid_tissue(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(274-276)cGg>cAg		Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	82.0	86.0		275	5.8	1.0	7	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	CNTNAP2	NM_014141.5	43	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	92/1332	146536869	2,13004	2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:146536869G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.275G>A	7.37:g.146536869G>A	ENSP00000354778:p.Arg92Gln	HNSCC(39;0.1)					p.R92Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		2	791	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	92			F5/8 type C.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.275G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636114	0.96693	2.27E-4	1.16E-4	ENSG00000174469	ENST00000361727	D	0.98150	-4.75	5.83	5.83	0.93111	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.000000	0.51477	D	0.000081	D	0.97343	0.9131	L	0.52011	1.625	0.80722	D	1	P	0.51933	0.949	P	0.50754	0.649	D	0.97724	1.0198	10	0.66056	D	0.02	.	18.6885	0.91574	0.0:0.0:1.0:0.0	.	92	Q9UHC6	CNTP2_HUMAN	Q	92	ENSP00000354778:R92Q	ENSP00000354778:R92Q	R	+	2	0	CNTNAP2	146167802	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.760000	0.94817	0.650000	0.86243	CGG		0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
DOCK5	80005	broad.mit.edu	37	8	25220568	25220568	+	Missense_Mutation	SNP	C	C	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:25220568C>A	ENST00000276440.7	+	29	2999	c.2955C>A	c.(2953-2955)ttC>ttA	p.F985L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	985					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGCAGGACTTCCTCATGGAAA	0.443																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2953-2955)ttC>ttA		Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.							128.0	124.0	126.0					8																	25220568		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25220568C>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2955C>A	8.37:g.25220568C>A	ENSP00000276440:p.Phe985Leu					DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.F699L|DOCK5_uc003xei.3_Missense_Mutation_p.F555L|DOCK5_uc003xej.3_Non-coding_Transcript	p.F985L	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	28	3092	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	985					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.2955C>A	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.394469|4.394469	0.83011|0.83011	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.20598|.	2.06|.	5.68|5.68	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74581|0.74581	0.3735|0.3735	M|M	0.82193|0.82193	2.58|2.58	0.80722|0.80722	D|D	1|1	D;P;P|.	0.69078|.	0.997;0.947;0.94|.	D;P;P|.	0.70935|.	0.971;0.742;0.808|.	T|T	0.74754|0.74754	-0.3558|-0.3558	10|5	0.87932|.	D|.	0|.	.|.	11.7979|11.7979	0.52110|0.52110	0.0:0.8552:0.0:0.1448|0.0:0.8552:0.0:0.1448	.|.	975;760;985|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	L|T	985|757	ENSP00000276440:F985L|.	ENSP00000276440:F985L|.	F|P	+|+	3|1	2|0	DOCK5|DOCK5	25276485|25276485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.580000|1.580000	0.36547|0.36547	0.723000|0.723000	0.32274|0.32274	0.650000|0.650000	0.86243|0.86243	TTC|CCT		0.443	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940	
FNTA	2339	broad.mit.edu	37	8	42939877	42939877	+	Silent	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:42939877C>T	ENST00000302279.3	+	8	1064	c.870C>T	c.(868-870)tcC>tcT	p.S290S	FNTA_ENST00000529687.1_Silent_p.S139S|FNTA_ENST00000342116.4_Silent_p.S223S	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	290					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GTGGTCTTTCCAAATATCCTA	0.343																																						uc003xps.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(868-870)tcC>tcT		Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.							65.0	62.0	63.0					8																	42939877		2203	4300	6503	SO:0001819	synonymous_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42939877C>T	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.870C>T	8.37:g.42939877C>T						FNTA_uc003xpt.3_Silent_p.S199S|FNTA_uc003xpv.3_Non-coding_Transcript	p.S290S	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	918	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	290					A6NJW0|Q53XJ9|Q9UDC1	Silent	SNP	ENST00000302279.3	37	c.870C>T	CCDS6140.1																																																																																				0.343	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027	
SPAG1	6674	broad.mit.edu	37	8	101203698	101203698	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:101203698G>A	ENST00000388798.2	+	9	1104	c.913G>A	c.(913-915)Gtt>Att	p.V305I	SPAG1_ENST00000251809.3_Missense_Mutation_p.V305I|SPAG1_ENST00000520508.1_Missense_Mutation_p.V305I|SPAG1_ENST00000520643.1_Missense_Mutation_p.V305I	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	305					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGTACTAGATGTTGAGCCTGA	0.348																																						uc003yjh.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(913-915)Gtt>Att		Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.							100.0	96.0	97.0					8																	101203698		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101203698G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.913G>A	8.37:g.101203698G>A	ENSP00000373450:p.Val305Ile					SPAG1_uc003yjg.1_Missense_Mutation_p.V305I|SPAG1_uc003yji.2_Missense_Mutation_p.V305I	p.V305I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	8	999	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	305					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.913G>A	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	2.800	-0.249297	0.05867	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.09	2.2	0.27929	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.962032	0.08692	N	0.907873	T	0.33000	0.0848	N	0.10685	0.025	0.09310	N	1	B;B	0.22003	0.063;0.01	B;B	0.26310	0.068;0.011	T	0.30563	-0.9974	10	0.16420	T	0.52	-2.1304	4.3795	0.11286	0.2486:0.0:0.5804:0.171	.	305;305	Q07617;G3XAM3	SPAG1_HUMAN;.	I	305	ENSP00000427716:V305I;ENSP00000251809:V305I;ENSP00000428070:V305I;ENSP00000373450:V305I	ENSP00000251809:V305I	V	+	1	0	SPAG1	101272874	0.333000	0.24731	0.067000	0.19924	0.426000	0.31534	1.772000	0.38552	0.634000	0.30469	0.555000	0.69702	GTT		0.348	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
FER1L6	654463	broad.mit.edu	37	8	125131869	125131869	+	Silent	SNP	G	G	A	rs374383727		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:125131869G>A	ENST00000522917.1	+	41	5618	c.5412G>A	c.(5410-5412)tcG>tcA	p.S1804S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.S1804S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1804						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTCCTTTTCGTGGTTCATGA	0.458																																						uc003yqw.3																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(5410-5412)tcG>tcA		Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.		G		1,3911		0,1,1955	168.0	169.0	169.0		5412	-1.6	0.9	8		169	0,8272		0,0,4136	no	coding-synonymous	FER1L6	NM_001039112.2		0,1,6091	AA,AG,GG		0.0,0.0256,0.0082		1804/1858	125131869	1,12183	1956	4136	6092	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125131869G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.5412G>A	8.37:g.125131869G>A						AK057332_uc003yqy.1_Intron	p.S1804S	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		40	5618	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1804						Silent	SNP	ENST00000522917.1	37	c.5412G>A	CCDS43767.1																																																																																				0.458	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112	
PLEC	5339	broad.mit.edu	37	8	144992335	144992335	+	Missense_Mutation	SNP	A	A	G			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:144992335A>G	ENST00000322810.4	-	32	12234	c.12065T>C	c.(12064-12066)tTc>tCc	p.F4022S	PLEC_ENST00000527096.1_Missense_Mutation_p.F3908S|PLEC_ENST00000436759.2_Missense_Mutation_p.F3912S|PLEC_ENST00000345136.3_Missense_Mutation_p.F3885S|PLEC_ENST00000356346.3_Missense_Mutation_p.F3871S|PLEC_ENST00000354958.2_Missense_Mutation_p.F3863S|PLEC_ENST00000398774.2_Missense_Mutation_p.F3853S|PLEC_ENST00000357649.2_Missense_Mutation_p.F3889S|PLEC_ENST00000354589.3_Missense_Mutation_p.F3885S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4022	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCACGGAAGGTCAGCTT	0.692																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12064-12066)tTc>tCc		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							11.0	14.0	13.0					8																	144992335		1938	4093	6031	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144992335A>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12065T>C	8.37:g.144992335A>G	ENSP00000323856:p.Phe4022Ser					PLEC_uc003zab.1_Missense_Mutation_p.F3885S|PLEC_uc003zac.1_Missense_Mutation_p.F3889S|PLEC_uc003zad.2_Missense_Mutation_p.F3885S|PLEC_uc003zae.1_Missense_Mutation_p.F3853S|PLEC_uc003zag.1_Missense_Mutation_p.F3863S|PLEC_uc003zah.2_Missense_Mutation_p.F3871S|PLEC_uc003zaj.2_Missense_Mutation_p.F3912S	p.F4022S	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	12235	-			4022			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.12065T>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	A	6.168	0.399208	0.11696	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.21	4.21	0.49690	.	0.000000	0.64402	U	0.000006	T	0.81489	0.4833	M	0.83483	2.645	0.58432	D	0.999998	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	0.91635	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D	0.83669	0.0165	10	0.56958	D	0.05	.	12.3924	0.55366	1.0:0.0:0.0:0.0	.	3912;3871;3863;4022;3853;3885;3889;3885	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	S	3885;3889;3885;3853;4022;3863;3871;3912;3908	ENSP00000344848:F3885S;ENSP00000350277:F3889S;ENSP00000346602:F3885S;ENSP00000381756:F3853S;ENSP00000323856:F4022S;ENSP00000347044:F3863S;ENSP00000348702:F3871S;ENSP00000388180:F3912S;ENSP00000434583:F3908S	ENSP00000323856:F4022S	F	-	2	0	PLEC	145064323	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.251000	0.78297	1.760000	0.52011	0.368000	0.22195	TTC		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
GLDC	2731	broad.mit.edu	37	9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:6592871G>A	ENST00000321612.6	-	10	1531	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	461					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	TCAAAAAGCCGAAAATTGATC	0.403																																						uc003zkc.3																			0				cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						c.(1381-1383)Cgg>Tgg		Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						62.0	64.0	64.0					9																	6592871		2203	4300	6503	SO:0001583	missense	2731				glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding	g.chr9:6592871G>A	D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.1381C>T	9.37:g.6592871G>A	ENSP00000370737:p.Arg461Trp						p.R461W	NM_000170	NP_000161	P23378	GCSP_HUMAN		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	9	1574	-		Acute lymphoblastic leukemia(23;0.161)	461					Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	c.1381C>T	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571083	0.65765	.	.	ENSG00000178445	ENST00000321612	D	0.95918	-3.85	5.74	4.82	0.62117	Glycine cleavage system P-protein, N-terminal (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98331	1.0533	10	0.87932	D	0	-21.0009	13.3474	0.60582	0.0:0.0:0.5939:0.4061	.	461	P23378	GCSP_HUMAN	W	461	ENSP00000370737:R461W	ENSP00000370737:R461W	R	-	1	2	GLDC	6582871	1.000000	0.71417	0.996000	0.52242	0.915000	0.54546	4.304000	0.59104	1.383000	0.46405	0.563000	0.77884	CGG		0.403	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
PAX5	5079	broad.mit.edu	37	9	37020754	37020754	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:37020754G>A	ENST00000358127.4	-	2	165	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX5_ENST00000446742.1_Missense_Mutation_p.R31W|PAX5_ENST00000520154.1_Missense_Mutation_p.R31W|PAX5_ENST00000523241.1_Missense_Mutation_p.R31W|PAX5_ENST00000377852.2_Missense_Mutation_p.R31W|PAX5_ENST00000522003.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.R31W|PAX5_ENST00000520281.1_Missense_Mutation_p.R31W|PAX5_ENST00000377847.2_Missense_Mutation_p.R31W|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.R31W	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	31	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGAGTGGCCGTCCATTCACA	0.522			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	"""T, Mis, D, F, S"""	paired box gene 5 (B-cell lineage specific activator protein)			L	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""		"""NHL, ALL, B-ALL"""	PAX5/JAK2(18)	41	Unknown(41)	p.?(41)	haematopoietic_and_lymphoid_tissue(41)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171						c.(91-93)Cgg>Tgg		Homo sapiens paired box 5 (PAX5), mRNA.							107.0	98.0	101.0					9																	37020754		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37020754G>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.91C>T	9.37:g.37020754G>A	ENSP00000350844:p.Arg31Trp					PAX5_uc011lqc.1_Missense_Mutation_p.R31W|PAX5_uc010mlr.1_Missense_Mutation_p.R31W|PAX5_uc011lpw.1_Missense_Mutation_p.R31W|PAX5_uc011lpx.1_Missense_Mutation_p.R31W|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R31W|PAX5_uc011lpz.1_Missense_Mutation_p.R31W|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R31W|PAX5_uc010mlp.1_Missense_Mutation_p.R31W|PAX5_uc011lqd.1_Missense_Mutation_p.R30W|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	p.R31W	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	1	539	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	31			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.91C>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829069	0.71258	.	.	ENSG00000196092	ENST00000358127;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000446742;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	5.59	4.69	0.59074	Paired box protein, N-terminal (4);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.97214	3.96	0.80722	D	1	D;D;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;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.995;1.0;0.999;0.995;1.0;1.0;0.998;0.995;0.995	D	0.96837	0.9615	10	0.87932	D	0	.	13.5383	0.61659	0.0:0.0:0.7163:0.2837	.	30;31;31;31;31;31;31;31;31;31	C0KTF2;C0KTF8;C0KTF7;C0KTF9;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;.;.;PAX5_HUMAN	W	31	ENSP00000350844:R31W;ENSP00000367084:R31W;ENSP00000367083:R31W;ENSP00000429637:R31W;ENSP00000429291:R31W;ENSP00000430773:R31W;ENSP00000404687:R31W;ENSP00000412188:R31W;ENSP00000367078:R31W	ENSP00000350844:R31W	R	-	1	2	PAX5	37010754	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.294000	0.51787	1.324000	0.45282	0.655000	0.94253	CGG		0.522	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1		
CYLC2	1539	broad.mit.edu	37	9	105767035	105767035	+	Frame_Shift_Del	DEL	C	C	-			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:105767035delC	ENST00000374798.3	+	4	309	c.239delC	c.(238-240)tctfs	p.S80fs	CYLC2_ENST00000487798.1_Frame_Shift_Del_p.S80fs	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	80	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGTACCGTTCTTTAATGAGA	0.398																																						uc004bbs.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.(238-240)tctfs		Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.							87.0	83.0	85.0					9																	105767035		2203	4300	6503	SO:0001589	frameshift_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105767035delC	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.239delC	9.37:g.105767035delC	ENSP00000420256:p.Ser80fs						p.S80fs	NM_001340	NP_001331	Q14093	CYLC2_HUMAN			3	309	+		all_hematologic(171;0.125)	80			31 X 3 AA repeats of K-K-X.		B2R8F4|Q5VVJ9	Frame_Shift_Del	DEL	ENST00000374798.3	37	c.239delC	CCDS35085.1																																																																																				0.398	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
ENTPD8	377841	broad.mit.edu	37	9	140327980	140327980	+	IGR	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:140327980C>T	ENST00000472938.1	-	0	1749				NOXA1_ENST00000341349.2_Nonsense_Mutation_p.R329*|NOXA1_ENST00000392815.2_Nonsense_Mutation_p.R273*			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8						nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCTGAGGGCACGAAGAGGAGC	0.701																																						uc004cmu.3																			0				cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9						c.(985-987)Cga>Tga		Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.							16.0	20.0	19.0					9																	140327980		2191	4289	6480	SO:0001628	intergenic_variant	10811				regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity	g.chr9:140327980C>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831		9.37:g.140327980C>T						NOXA1_uc004cmv.3_Nonsense_Mutation_p.R329*|NOXA1_uc010nch.3_Nonsense_Mutation_p.R273*	p.R329*	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)	10	1120	+	all_cancers(76;0.0926)		329	R -> G (in Ref. 6; AAC18046).	Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	OPR.		A2BG17|Q6UVZ0	Nonsense_Mutation	SNP	ENST00000472938.1	37	c.985C>T	CCDS43913.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402724	0.42613	.	.	ENSG00000188747	ENST00000341349;ENST00000392815	.	.	.	3.17	0.561	0.17285	.	1.316260	0.05197	N	0.504255	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.2512	0.15522	0.4119:0.4702:0.0:0.1179	.	.	.	.	X	329;273	.	ENSP00000342848:R329X	R	+	1	2	NOXA1	139447801	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.302000	0.19192	0.037000	0.15575	-1.367000	0.01198	CGA		0.701	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	NM_198585	
DACH2	117154	broad.mit.edu	37	X	86068163	86068163	+	Missense_Mutation	SNP	C	C	T			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:86068163C>T	ENST00000373125.4	+	9	1420	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	DACH2_ENST00000510272.1_Missense_Mutation_p.R255C|DACH2_ENST00000373131.1_Missense_Mutation_p.R461C|DACH2_ENST00000508860.1_Missense_Mutation_p.R307C	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	474	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGATAATGCTCGCATCCAGGA	0.373																																						uc004eew.2																			0		p.A473T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(1420-1422)Cgc>Tgc		Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.							34.0	33.0	33.0					X																	86068163		2202	4299	6501	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86068163C>T	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1420C>T	X.37:g.86068163C>T	ENSP00000362217:p.Arg474Cys					DACH2_uc004eex.2_Missense_Mutation_p.R461C|DACH2_uc010nmq.2_Missense_Mutation_p.R340C|DACH2_uc011mra.1_Missense_Mutation_p.R307C|DACH2_uc010nmr.2_Missense_Mutation_p.R255C|DACH2_uc004eey.3_Missense_Mutation_p.R167C|DACH2_uc004eez.3_Missense_Mutation_p.R157C	p.R474C	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN			8	1590	+			474			DACHbox-C.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1420C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506493	0.64410	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.90955	-2.71;-2.76	5.19	4.26	0.50523	.	0.076052	0.49916	D	0.000135	D	0.94265	0.8158	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.997;0.998	D;D;P;P	0.68353	0.957;0.931;0.781;0.817	D	0.94633	0.7823	10	0.87932	D	0	.	11.9568	0.52986	0.325:0.675:0.0:0.0	.	340;474;461;474	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	C	474;461;474;307;255;307;139	ENSP00000362223:R461C;ENSP00000362217:R474C	ENSP00000345134:R474C	R	+	1	0	DACH2	85954819	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	2.831000	0.48144	2.145000	0.66743	0.513000	0.50165	CGC		0.373	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
SLC6A14	11254	broad.mit.edu	37	X	115588823	115588823	+	Missense_Mutation	SNP	G	G	A			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:115588823G>A	ENST00000371900.4	+	13	1751	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	SLC6A14_ENST00000463626.1_Intron	NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	555					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TAATTATGGCGCAATTCCATA	0.358																																						uc004eqi.3																			0		p.G554G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(1663-1665)Gca>Aca		Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	L-Proline(DB00172)						190.0	167.0	175.0					X																	115588823		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115588823G>A	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1663G>A	X.37:g.115588823G>A	ENSP00000360967:p.Ala555Thr						p.A555T	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			12	1794	+			555					Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1663G>A	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	G	2.488	-0.318061	0.05386	.	.	ENSG00000087916	ENST00000371900	T	0.74209	-0.82	5.17	-8.5	0.00927	.	2.897090	0.00678	N	0.000663	T	0.49525	0.1562	N	0.05574	-0.02	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45425	-0.9262	10	0.20519	T	0.43	.	8.0775	0.30724	0.2466:0.3495:0.4039:0.0	.	555	Q9UN76	S6A14_HUMAN	T	555	ENSP00000360967:A555T	ENSP00000360967:A555T	A	+	1	0	SLC6A14	115502851	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-1.216000	0.02982	-2.410000	0.00572	-1.336000	0.01259	GCA		0.358	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1		
