#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
EPHA8	2046	broad.mit.edu	37	1	22922604	22922604	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:22922604G>T	ENST00000166244.3	+	9	1775	c.1703G>T	c.(1702-1704)tGt>tTt	p.C568F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	568	Mediates interaction with ANKS1A and ANKS1B. {ECO:0000250}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGCAGGCACTGTGGCTACAGC	0.637																																						uc001bfx.1		NaN																	0				central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1)	13						c.(1702-1704)TGT>TTT		ephrin receptor EphA8 isoform 1 precursor							60.0	51.0	54.0					1																	22922604		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22922604G>T	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1703G>T	1.37:g.22922604G>T	ENSP00000166244:p.Cys568Phe						p.C568F	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	9	1828	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	568			Cytoplasmic (Potential).		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.1703G>T	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557001	0.65425	.	.	ENSG00000070886	ENST00000166244	T	0.10573	2.86	5.04	5.04	0.67666	.	0.129137	0.53938	D	0.000041	T	0.30696	0.0773	M	0.74467	2.265	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.01256	-1.1404	10	0.28530	T	0.3	.	17.1233	0.86707	0.0:0.0:1.0:0.0	.	568	P29322	EPHA8_HUMAN	F	568	ENSP00000166244:C568F	ENSP00000166244:C568F	C	+	2	0	EPHA8	22795191	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	9.284000	0.95882	2.619000	0.88677	0.561000	0.74099	TGT		0.637	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1		NM_020526		40	50	1	0	8.16277e-20	0.027894	8.86362e-20	40	50		
CSMD2	114784	broad.mit.edu	37	1	34209159	34209159	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:34209159G>A	ENST00000373381.4	-	14	2071	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	592	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGTAGTTGGGAGACAGGAC	0.572																																						uc001bxn.1		NaN																	0				ovary(6)|skin(5)|pancreas(1)	12						c.(1774-1776)CCC>CTC		CUB and Sushi multiple domains 2							67.0	73.0	71.0					1																	34209159		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34209159G>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.1895C>T	1.37:g.34209159G>A	ENSP00000362479:p.Pro632Leu					CSMD2_uc001bxm.1_Missense_Mutation_p.P632L	p.P592L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			14	1804	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	592			Extracellular (Potential).|CUB 4.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.1775C>T		.	.	.	.	.	.	.	.	.	.	G	32	5.127938	0.94473	.	.	ENSG00000121904	ENST00000373381	T	0.58210	0.35	5.58	5.58	0.84498	CUB (5);	0.000000	0.85682	D	0.000000	T	0.80763	0.4685	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85041	0.0923	10	0.72032	D	0.01	.	18.9334	0.92576	0.0:0.0:1.0:0.0	.	592;632	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	632	ENSP00000362479:P632L	ENSP00000241312:P592L	P	-	2	0	CSMD2	33981746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.782000	0.95742	0.655000	0.94253	CCC		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_052896		8	102	0	0	0	0.038147	0	8	102		
BNIPL	149428	broad.mit.edu	37	1	151018593	151018593	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:151018593C>A	ENST00000368931.3	+	9	1145	c.989C>A	c.(988-990)gCc>gAc	p.A330D	BNIPL_ENST00000491386.1_3'UTR|BNIPL_ENST00000295294.7_Missense_Mutation_p.A248D|C1orf56_ENST00000368926.5_5'Flank	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	330	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGAGCTGGCCCAACTCATA	0.453																																						uc001ewl.2		NaN																	0					0						c.(988-990)GCC>GAC		BCL2/adenovirus E1B 19kD interacting protein							62.0	63.0	63.0					1																	151018593		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151018593C>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.989C>A	1.37:g.151018593C>A	ENSP00000357927:p.Ala330Asp					BNIPL_uc009wmi.2_Missense_Mutation_p.A248D|BNIPL_uc009wmj.2_RNA|C1orf56_uc001ewn.2_5'Flank	p.A330D	NM_138278	NP_612122	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		9	1162	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		330			CRAL-TRIO.		Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.989C>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154623	0.78114	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294	T;T;T	0.64260	-0.09;-0.09;-0.09	5.75	2.61	0.31194	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.171335	0.51477	D	0.000081	T	0.43211	0.1237	L	0.53561	1.675	0.39304	D	0.964964	P	0.47841	0.901	P	0.48598	0.583	T	0.41106	-0.9527	10	0.12103	T	0.63	.	10.1348	0.42699	0.1436:0.5783:0.2782:0.0	.	330	Q7Z465	BNIPL_HUMAN	D	330;328;248	ENSP00000357927:A330D;ENSP00000355333:A328D;ENSP00000295294:A248D	ENSP00000295294:A248D	A	+	2	0	BNIPL	149285217	0.972000	0.33761	0.985000	0.45067	0.890000	0.51754	2.483000	0.45233	0.731000	0.32448	0.561000	0.74099	GCC		0.453	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1		NM_138279		37	40	1	0	7.04047e-22	0.023175	7.72297e-22	37	40		
FLG	2312	broad.mit.edu	37	1	152280711	152280711	+	Silent	SNP	G	G	T	rs370184374	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:152280711G>T	ENST00000368799.1	-	3	6686	c.6651C>A	c.(6649-6651)gcC>gcA	p.A2217A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2217	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCAAGAGG	0.552									Ichthyosis																													uc001ezu.1		NaN																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6649-6651)GCC>GCA		filaggrin							324.0	298.0	307.0					1																	152280711		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280711G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6651C>A	1.37:g.152280711G>T							p.A2217A	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6687	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2217			Ser-rich.|Filaggrin 13.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.6651C>A	CCDS30860.1																																																																																				0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1		NM_002016		206	656	1	0	4.53876e-58	0.048971	5.30344e-58	206	656		
ADAM15	8751	broad.mit.edu	37	1	155030474	155030474	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:155030474G>A	ENST00000356955.2	+	14	1665	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	ADAM15_ENST00000360674.4_Missense_Mutation_p.G522R|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000355956.2_Missense_Mutation_p.G522R|ADAM15_ENST00000449910.2_Missense_Mutation_p.G522R|ADAM15_ENST00000447332.3_Missense_Mutation_p.G506R|ADAM15_ENST00000271836.6_Missense_Mutation_p.G522R|ADAM15_ENST00000368410.2_Missense_Mutation_p.G228R|ADAM15_ENST00000368412.3_Missense_Mutation_p.G522R|ADAM15_ENST00000531455.1_Missense_Mutation_p.G532R|ADAM15_ENST00000368413.1_Missense_Mutation_p.G228R|ADAM15_ENST00000359280.4_Missense_Mutation_p.G522R	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	522	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGCATGCACGGGCGTTGTGC	0.632																																						uc001fgr.1		NaN																	0				central_nervous_system(3)|skin(2)|ovary(1)	6						c.(1564-1566)GGG>AGG		a disintegrin and metalloproteinase domain 15							80.0	78.0	79.0					1																	155030474		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155030474G>A	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1564G>A	1.37:g.155030474G>A	ENSP00000349436:p.Gly522Arg					ADAM15_uc001fgq.1_Missense_Mutation_p.G207R|ADAM15_uc010pet.1_Missense_Mutation_p.G506R|ADAM15_uc010peu.1_Missense_Mutation_p.G539R|ADAM15_uc001fgt.1_Missense_Mutation_p.G522R|ADAM15_uc010pev.1_Missense_Mutation_p.G532R|ADAM15_uc001fgs.1_Missense_Mutation_p.G522R|ADAM15_uc001fgu.1_Missense_Mutation_p.G522R|ADAM15_uc001fgw.1_Missense_Mutation_p.G522R|ADAM15_uc001fgv.1_Missense_Mutation_p.G522R|ADAM15_uc001fgx.1_Missense_Mutation_p.G522R|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_5'Flank	p.G522R	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		14	1665	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		522			Extracellular (Potential).|Cys-rich.		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.1564G>A	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791951	0.90453	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63;1.63	5.1	5.1	0.69264	ADAM, cysteine-rich (2);	0.000000	0.42172	D	0.000744	T	0.55847	0.1946	M	0.90145	3.09	0.80722	D	1	D;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;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	T	0.64322	-0.6435	10	0.87932	D	0	.	13.9539	0.64135	0.0:0.0:1.0:0.0	.	532;539;506;522;522;522;522;522;522;522;519	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	R	522;522;522;522;522;522;228;522;228;532	ENSP00000349436:G522R;ENSP00000403843:G522R;ENSP00000352226:G522R;ENSP00000353892:G522R;ENSP00000357397:G522R;ENSP00000348227:G522R;ENSP00000357395:G228R;ENSP00000271836:G522R;ENSP00000357398:G228R;ENSP00000432927:G532R	ENSP00000271836:G522R	G	+	1	0	ADAM15	153297098	1.000000	0.71417	0.976000	0.42696	0.971000	0.66376	8.186000	0.89706	2.661000	0.90470	0.650000	0.86243	GGG		0.632	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1		NM_003815		39	108	0	0	0	0.027894	0	39	108		
F5	2153	broad.mit.edu	37	1	169511786	169511786	+	Missense_Mutation	SNP	G	G	A	rs375248946		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:169511786G>A	ENST00000367797.3	-	13	2743	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	F5_ENST00000367796.3_Missense_Mutation_p.R853C	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	848	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAAAGTAGACGTATCCCTGTG	0.458																																						uc001ggg.1		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(2542-2544)CGT>TGT		coagulation factor V precursor	Drotrecogin alfa(DB00055)	G	CYS/ARG	0,4406		0,0,2203	178.0	169.0	172.0		2542	-4.4	0.0	1		172	1,8599	1.2+/-3.3	0,1,4299	no	missense	F5	NM_000130.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	848/2225	169511786	1,13005	2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169511786G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2542C>T	1.37:g.169511786G>A	ENSP00000356771:p.Arg848Cys						p.R848C	NM_000130	NP_000121	P12259	FA5_HUMAN			13	2687	-	all_hematologic(923;0.208)		848			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.2542C>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.381460	0.24944	0.0	1.16E-4	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.20200	2.09;2.09	5.97	-4.39	0.03611	.	1.642350	0.02445	N	0.085000	T	0.02304	0.0071	N	0.08118	0	0.09310	N	0.999998	P	0.46327	0.876	B	0.30646	0.118	T	0.30966	-0.9960	10	0.38643	T	0.18	2.0561	7.1827	0.25782	0.0955:0.1133:0.5914:0.1998	.	848	P12259	FA5_HUMAN	C	848;853	ENSP00000356771:R848C;ENSP00000356770:R853C	ENSP00000356770:R853C	R	-	1	0	F5	167778410	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.024000	0.03603	-0.464000	0.06963	-0.485000	0.04761	CGT		0.458	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		NM_000130		97	233	0	0	0	0.048971	0	97	233		
HMCN1	83872	broad.mit.edu	37	1	186014962	186014962	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186014962C>T	ENST00000271588.4	+	41	6676	c.6447C>T	c.(6445-6447)ggC>ggT	p.G2149G	HMCN1_ENST00000367492.2_Silent_p.G2149G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2149	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGAAACCAGGCCTCAGTATAT	0.378																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(6445-6447)GGC>GGT		hemicentin 1 precursor							112.0	108.0	110.0					1																	186014962		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186014962C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6447C>T	1.37:g.186014962C>T							p.G2149G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			41	6676	+			2149			Ig-like C2-type 19.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.6447C>T	CCDS30956.1																																																																																				0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		25	58	0	0	0	0.021523	0	25	58		
HMCN1	83872	broad.mit.edu	37	1	186158668	186158668	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:186158668C>T	ENST00000271588.4	+	107	16795	c.16566C>T	c.(16564-16566)ccC>ccT	p.P5522P	HMCN1_ENST00000367492.2_Silent_p.P5405P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5522					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTGTCCACCCAATGATTTGG	0.438																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(16564-16566)CCC>CCT		hemicentin 1 precursor							101.0	92.0	95.0					1																	186158668		2191	4279	6470	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158668C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16566C>T	1.37:g.186158668C>T						HMCN1_uc001grs.1_Silent_p.P974P	p.P5522P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			107	16795	+			5522					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.16566C>T	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		47	61	0	0	0	0.048971	0	47	61		
RGS13	6003	broad.mit.edu	37	1	192628536	192628536	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:192628536T>C	ENST00000391995.2	+	7	651	c.363T>C	c.(361-363)ttT>ttC	p.F121F	RGS13_ENST00000543215.1_Silent_p.F121F|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	121	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AAACATGTTTTGAAGAAGCTC	0.353																																						uc001gsj.2		NaN																	0					0						c.(361-363)TTT>TTC		regulator of G-protein signalling 13							97.0	85.0	89.0					1																	192628536		2203	4300	6503	SO:0001819	synonymous_variant	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192628536T>C	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.363T>C	1.37:g.192628536T>C						RGS13_uc001gsk.2_Silent_p.F121F	p.F121F	NM_002927	NP_002918	O14921	RGS13_HUMAN			7	644	+			121			RGS.		Q6PGR2|Q8TD63|Q9BX45	Silent	SNP	ENST00000391995.2	37	c.363T>C	CCDS1376.1																																																																																				0.353	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1		NM_002927		45	25	0	0	0	0.048971	0	45	25		
ZBTB41	360023	broad.mit.edu	37	1	197128821	197128821	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:197128821G>T	ENST00000367405.4	-	10	2466	c.2398C>A	c.(2398-2400)Cag>Aag	p.Q800K	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	800					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GATACATTCTGTAACATCGTC	0.443																																						uc001gtx.1		NaN																	0				ovary(1)|skin(1)	2						c.(2398-2400)CAG>AAG		zinc finger and BTB domain containing 41							196.0	177.0	184.0					1																	197128821		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128821G>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2398C>A	1.37:g.197128821G>T	ENSP00000356375:p.Gln800Lys					ZBTB41_uc009wyz.1_RNA	p.Q800K	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2467	-			800					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2398C>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921706	0.52653	.	.	ENSG00000177888	ENST00000367405	T	0.05717	3.4	6.17	5.21	0.72293	.	0.000000	0.41605	D	0.000849	T	0.06690	0.0171	L	0.27053	0.805	0.39478	D	0.967831	B	0.20368	0.044	B	0.21708	0.036	T	0.30060	-0.9991	10	0.49607	T	0.09	.	15.5383	0.76021	0.0:0.2508:0.7492:0.0	.	800	Q5SVQ8	ZBT41_HUMAN	K	800	ENSP00000356375:Q800K	ENSP00000356375:Q800K	Q	-	1	0	ZBTB41	195395444	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.666000	0.68059	2.941000	0.99782	0.655000	0.94253	CAG		0.443	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2		NM_194314		56	125	1	0	5.57489e-27	0.048971	6.2754e-27	56	125		
USH2A	7399	broad.mit.edu	37	1	216498861	216498861	+	Missense_Mutation	SNP	C	C	T	rs3820464		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:216498861C>T	ENST00000307340.3	-	6	1315	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	USH2A_ENST00000366942.3_Missense_Mutation_p.R310Q|USH2A_ENST00000366943.2_Missense_Mutation_p.R310Q	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	310	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGTGGACCCGCGGGTGGCT	0.532										HNSCC(13;0.011)																												uc001hku.1		NaN																	0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(928-930)CGG>CAG		usherin isoform B							67.0	63.0	64.0					1																	216498861		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216498861C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.929G>A	1.37:g.216498861C>T	ENSP00000305941:p.Arg310Gln	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.R310Q	p.R310Q	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	6	1316	-			310			Laminin N-terminal.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.929G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.598809	0.87055	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.19806	2.55;2.54;2.12	4.93	4.93	0.64822	Laminin, N-terminal (2);	0.000000	0.39759	N	0.001269	T	0.50786	0.1636	M	0.81802	2.56	0.46437	D	0.999046	D;D	0.89917	1.0;1.0	D;D	0.87578	0.985;0.998	T	0.56902	-0.7902	10	0.62326	D	0.03	.	18.1623	0.89712	0.0:1.0:0.0:0.0	rs3820464;rs3820464	310;310	O75445-2;O75445	.;USH2A_HUMAN	Q	310	ENSP00000305941:R310Q;ENSP00000355910:R310Q;ENSP00000355909:R310Q	ENSP00000305941:R310Q	R	-	2	0	USH2A	214565484	0.987000	0.35691	0.169000	0.22859	0.780000	0.44128	4.426000	0.59882	2.290000	0.77057	0.650000	0.86243	CGG		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123		93	60	0	0	0	0.048971	0	93	60		
C1orf95	375057	broad.mit.edu	37	1	226784667	226784667	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:226784667A>G	ENST00000366788.3	+	2	472	c.367A>G	c.(367-369)Atg>Gtg	p.M123V	C1orf95_ENST00000366789.4_Missense_Mutation_p.M123V	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	123						integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GGGCATGGACATGGTCATCCT	0.592																																						uc010pvn.1		NaN																	0				ovary(1)	1						c.(367-369)ATG>GTG		hypothetical protein LOC375057							173.0	145.0	155.0					1																	226784667		2203	4300	6503	SO:0001583	missense	375057					integral to membrane		g.chr1:226784667A>G	AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.367A>G	1.37:g.226784667A>G	ENSP00000355752:p.Met123Val						p.M123V	NM_001003665	NP_001003665	Q69YW2	CA095_HUMAN		GBM - Glioblastoma multiforme(131;0.113)	2	472	+	Breast(184;0.133)	Prostate(94;0.0885)	123					A6NGL2	Missense_Mutation	SNP	ENST00000366788.3	37	c.367A>G	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571722	0.65765	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.75406	0.3845	L	0.57536	1.79	0.58432	D	0.999999	P	0.43578	0.811	P	0.60789	0.879	T	0.76465	-0.2949	9	0.62326	D	0.03	0.0033	15.8434	0.78868	1.0:0.0:0.0:0.0	.	123	Q69YW2	CA095_HUMAN	V	123	.	ENSP00000355752:M123V	M	+	1	0	C1orf95	224851290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.232000	0.95325	2.224000	0.72417	0.459000	0.35465	ATG		0.592	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1		NM_001003665		13	200	0	0	0	0.013537	0	13	200		
RYR2	6262	broad.mit.edu	37	1	237730002	237730002	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:237730002G>A	ENST00000366574.2	+	28	3667	c.3350G>A	c.(3349-3351)tGg>tAg	p.W1117*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.W1115*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.W1101*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1117	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGTTGGTTGGAGTCGTCCT	0.532																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3349-3351)TGG>TAG		cardiac muscle ryanodine receptor							216.0	213.0	214.0					1																	237730002		2043	4201	6244	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237730002G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3350G>A	1.37:g.237730002G>A	ENSP00000355533:p.Trp1117*						p.W1117*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3470	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1117			Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.3350G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	42	9.196610	0.99098	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.1954	0.93686	0.0:0.0:1.0:0.0	.	.	.	.	X	1117;1115;1101	.	ENSP00000353174:W1115X	W	+	2	0	RYR2	235796625	1.000000	0.71417	0.998000	0.56505	0.523000	0.34469	9.869000	0.99810	2.536000	0.85505	0.655000	0.94253	TGG		0.532	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		114	325	0	0	0	0.048971	0	114	325		
OR2W3	343171	broad.mit.edu	37	1	248059029	248059029	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248059029G>A	ENST00000360358.3	+	1	141	c.141G>A	c.(139-141)ctG>ctA	p.L47L	OR2W3_ENST00000537741.1_Silent_p.L47L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCATCATCCTGGTGTCCCGGC	0.592																																						uc001idp.1		NaN																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(139-141)CTG>CTA		olfactory receptor, family 2, subfamily W,							199.0	172.0	181.0					1																	248059029		2203	4300	6503	SO:0001819	synonymous_variant	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059029G>A	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.141G>A	1.37:g.248059029G>A						OR2W3_uc010pzb.1_Silent_p.L47L	p.L47L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	410	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		47			Helical; Name=1; (Potential).		Q6IF06|Q8NG86	Silent	SNP	ENST00000360358.3	37	c.141G>A	CCDS31099.1																																																																																				0.592	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1		NM_001001957		15	343	0	0	0	0.028581	0	15	343		
OR2L8	391190	broad.mit.edu	37	1	248113003	248113003	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr1:248113003C>T	ENST00000357191.3	+	1	844	c.844C>T	c.(844-846)Cca>Tca	p.P282S	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATCCTCACCCCAATGCTCAA	0.483																																						uc001idt.1		NaN																	0				ovary(1)|skin(1)	2						c.(844-846)CCA>TCA		olfactory receptor, family 2, subfamily L,							96.0	77.0	83.0					1																	248113003		2203	4298	6501	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248113003C>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.844C>T	1.37:g.248113003C>T	ENSP00000349719:p.Pro282Ser					OR2L13_uc001ids.2_Intron	p.P282S	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	844	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		282			Helical; Name=7; (Potential).		Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.844C>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	13.92	2.380644	0.42207	.	.	ENSG00000196936	ENST00000357191	T	0.00330	8.08	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007921	T	0.00875	0.0029	M	0.90814	3.15	0.33402	D	0.577444	D	0.89917	1.0	D	0.97110	1.0	T	0.41124	-0.9526	10	0.72032	D	0.01	.	10.6261	0.45508	0.0:1.0:0.0:0.0	.	282	Q8NGY9	OR2L8_HUMAN	S	282	ENSP00000349719:P282S	ENSP00000349719:P282S	P	+	1	0	OR2L8	246179626	0.886000	0.30341	0.953000	0.39169	0.807000	0.45602	2.331000	0.43894	1.010000	0.39314	0.485000	0.47835	CCA		0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2				32	108	0	0	0	0.019004	0	32	108		
IDI2	91734	broad.mit.edu	37	10	1066766	1066766	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:1066766C>T	ENST00000277517.1	-	4	371	c.307G>A	c.(307-309)Gga>Aga	p.G103R	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000536039.1_RNA	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	103	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		CTCCTCACTCCGATGGCATCC	0.542																																						uc001ifv.1		NaN																	0					0						c.(307-309)GGA>AGA		isopentenyl-diphosphate delta isomerase 2							104.0	94.0	97.0					10																	1066766		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1066766C>T	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.307G>A	10.37:g.1066766C>T	ENSP00000277517:p.Gly103Arg					C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	p.G103R	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	4	372	-		Colorectal(49;0.235)	103			Nudix hydrolase.			Missense_Mutation	SNP	ENST00000277517.1	37	c.307G>A	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.311953	0.60414	.	.	ENSG00000148377	ENST00000277517	.	.	.	4.09	2.21	0.28008	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.056705	0.64402	N	0.000001	T	0.81079	0.4748	M	0.92784	3.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81540	-0.0886	9	0.87932	D	0	-16.4899	9.7191	0.40291	0.0:0.8281:0.0:0.1719	.	103	Q9BXS1	IDI2_HUMAN	R	103	.	ENSP00000277517:G103R	G	-	1	0	IDI2	1056766	0.998000	0.40836	0.003000	0.11579	0.007000	0.05969	4.098000	0.57748	0.314000	0.23086	-0.466000	0.05196	GGA		0.542	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1		NM_033261		22	29	0	0	0	0.014323	0	22	29		
CUBN	8029	broad.mit.edu	37	10	16994309	16994309	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:16994309C>T	ENST00000377833.4	-	33	5000	c.4935G>A	c.(4933-4935)caG>caA	p.Q1645Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1645	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGCAGTTCTGATTGTTTG	0.478																																						uc001ioo.2		NaN																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4933-4935)CAG>CAA		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						217.0	201.0	207.0					10																	16994309		2203	4300	6503	SO:0001819	synonymous_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994309C>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4935G>A	10.37:g.16994309C>T							p.Q1645Q	NM_001081	NP_001072	O60494	CUBN_HUMAN			33	4987	-			1645			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	ENST00000377833.4	37	c.4935G>A	CCDS7113.1																																																																																				0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081		49	65	0	0	0	0.048971	0	49	65		
MPP7	143098	broad.mit.edu	37	10	28358781	28358782	+	Splice_Site	DNP	CC	CC	AA			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:28358781_28358782CC>AA	ENST00000375732.1	-	13	1383	c.1124_1124GG>TT	c.(1123-1125)gGGg>gTTgg	p.G375V	MPP7_ENST00000375719.3_Splice_Site_p.G375V|MPP7_ENST00000337532.5_Splice_Site_p.G375V|MPP7_ENST00000445954.2_Splice_Site_p.G250V|MPP7_ENST00000540098.1_Splice_Site_p.G375V			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	375	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCCCACGGGACCTGAAAAACAG	0.46																																						uc001iua.1		NaN																	0				ovary(1)	1						c.e15-1		palmitoylated membrane protein 7																																				SO:0001630	splice_region_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28358781_28358782CC>AA	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1124_1124delinsAA	10.37:g.28358781_28358782delinsAA						MPP7_uc009xkz.1_Splice_Site|MPP7_uc001iub.1_Splice_Site_p.G375_splice|MPP7_uc009xla.2_Splice_Site_p.G375_splice|MPP7_uc010qdv.1_Splice_Site	p.G375_splice	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			15	1528	-								B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Splice_Site	DNP	ENST00000375732.1	37	c.1124_splice	CCDS7158.1																																																																																				0.460	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1		NM_173496	Missense_Mutation	13	16	0	0	0	0.004672	0	13	16		
ADAMTS14	140766	broad.mit.edu	37	10	72520532	72520532	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:72520532C>G	ENST00000373207.1	+	22	3595	c.3595C>G	c.(3595-3597)Cct>Gct	p.P1199A	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P1202A	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1199	Pro-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TACGCCAGTCCCTGAGGACAA	0.647																																						uc001jrh.2		NaN																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(3595-3597)CCT>GCT		ADAM metallopeptidase with thrombospondin type 1							60.0	59.0	59.0					10																	72520532		2203	4300	6503	SO:0001583	missense	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72520532C>G	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.3595C>G	10.37:g.72520532C>G	ENSP00000362303:p.Pro1199Ala					ADAMTS14_uc001jrg.2_Missense_Mutation_p.P1202A	p.P1199A	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN			22	3595	+			1199			Pro-rich.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	c.3595C>G	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	C	8.063	0.768540	0.15983	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.59638	0.25;0.28	4.7	3.48	0.39840	.	0.267871	0.20050	N	0.100301	T	0.31513	0.0799	N	0.14661	0.345	0.09310	N	1	B;B	0.16802	0.019;0.019	B;B	0.11329	0.006;0.006	T	0.24368	-1.0162	10	0.05620	T	0.96	.	7.0557	0.25097	0.0:0.1039:0.0:0.8961	.	1199;1202	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	A	1202;1199	ENSP00000362304:P1202A;ENSP00000362303:P1199A	ENSP00000362303:P1199A	P	+	1	0	ADAMTS14	72190538	0.005000	0.15991	0.036000	0.18154	0.001000	0.01503	0.250000	0.18235	0.916000	0.36871	-0.440000	0.05779	CCT		0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1		NM_080722		32	64	0	0	0	0.059317	0	32	64		
DDIT4	54541	broad.mit.edu	37	10	74034625	74034625	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:74034625G>A	ENST00000307365.3	+	3	579	c.378G>A	c.(376-378)caG>caA	p.Q126Q	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	126					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						TGGTAAGCCAGGTGGGCAAAG	0.692											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jsx.1		NaN																	0				pancreas(1)	1						c.(376-378)CAG>CAA		RTP801							48.0	51.0	50.0					10																	74034625		2203	4298	6501	SO:0001819	synonymous_variant	54541				apoptosis			g.chr10:74034625G>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.378G>A	10.37:g.74034625G>A			OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149		p.Q126Q	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN			3	580	+			126					Q9H0S3	Silent	SNP	ENST00000307365.3	37	c.378G>A	CCDS7315.1																																																																																				0.692	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1		NM_019058		67	107	0	0	0	0.048971	0	67	107		
KNDC1	85442	broad.mit.edu	37	10	134981802	134981802	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr10:134981802G>C	ENST00000304613.3	+	3	367	c.346G>C	c.(346-348)Ggg>Cgg	p.G116R	KNDC1_ENST00000368571.2_Missense_Mutation_p.G51R|KNDC1_ENST00000368572.2_Missense_Mutation_p.G116R|KNDC1_ENST00000530127.1_3'UTR			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	116	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGACGTGACCGGGAACACCTT	0.562																																						uc001llz.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(346-348)GGG>CGG		kinase non-catalytic C-lobe domain (KIND)							113.0	107.0	109.0					10																	134981802		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134981802G>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.346G>C	10.37:g.134981802G>C	ENSP00000304437:p.Gly116Arg					KNDC1_uc001lma.1_Missense_Mutation_p.G51R	p.G116R	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	3	347	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	116			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.346G>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.929781	0.52759	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.71698	1.65;1.65;-0.59	4.14	4.14	0.48551	KIND (2);	0.000000	0.64402	D	0.000006	D	0.82857	0.5128	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.85552	0.1222	10	0.87932	D	0	-28.9699	14.3225	0.66496	0.0:0.0:1.0:0.0	.	51;116	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	R	116;116;51	ENSP00000304437:G116R;ENSP00000357561:G116R;ENSP00000357560:G51R	ENSP00000304437:G116R	G	+	1	0	KNDC1	134831792	1.000000	0.71417	0.875000	0.34327	0.109000	0.19521	8.244000	0.89823	2.052000	0.61016	0.485000	0.47835	GGG		0.562	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3		NM_152643		63	98	0	0	0	0.048971	0	63	98		
DBX1	120237	broad.mit.edu	37	11	20180780	20180780	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:20180780G>A	ENST00000524983.2	-	2	714	c.426C>T	c.(424-426)ttC>ttT	p.F142F	DBX1_ENST00000227256.3_Silent_p.F142F			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	142					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.F142F(2)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						AAGACCCTTCGAAGTAGGGAA	0.602																																						uc001mpw.1		NaN																	2	Substitution - coding silent(2)		large_intestine(2)	ovary(1)	1						c.(424-426)TTC>TTT		developing brain homeobox 1							135.0	129.0	131.0					11																	20180780		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20180780G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.426C>T	11.37:g.20180780G>A							p.F142F	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN			2	426	-			142						Silent	SNP	ENST00000524983.2	37	c.426C>T																																																																																					0.602	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2		NM_001029865		7	128	0	0	0	0.02938	0	7	128		
QSER1	79832	broad.mit.edu	37	11	32954330	32954330	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:32954330G>T	ENST00000399302.2	+	4	1474	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	380	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACTTTTTCTGGGTCATCTCAG	0.383																																						uc001mty.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(1)	6						c.(1138-1140)GGG>GTG		glutamine and serine rich 1							103.0	95.0	97.0					11																	32954330		1835	4077	5912	SO:0001583	missense	79832							g.chr11:32954330G>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1139G>T	11.37:g.32954330G>T	ENSP00000382241:p.Gly380Val					QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank	p.G380V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			4	1406	+	Breast(20;0.158)		380			Ser-rich.		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.1139G>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686751	0.29962	.	.	ENSG00000060749	ENST00000399302	T	0.47177	0.85	4.89	3.98	0.46160	.	0.175311	0.26109	U	0.026296	T	0.31888	0.0811	N	0.24115	0.695	0.80722	D	1	P	0.39282	0.666	B	0.33339	0.162	T	0.15464	-1.0436	10	0.48119	T	0.1	.	13.5502	0.61728	0.0762:0.0:0.9238:0.0	.	380	Q2KHR3	QSER1_HUMAN	V	380	ENSP00000382241:G380V	ENSP00000382241:G380V	G	+	2	0	QSER1	32910906	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.718000	0.54919	1.194000	0.43101	0.591000	0.81541	GGG		0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774		46	69	1	0	2.13384e-23	0.048971	2.35269e-23	46	69		
TTC17	55761	broad.mit.edu	37	11	43465060	43465060	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:43465060G>A	ENST00000039989.4	+	17	2451	c.2437G>A	c.(2437-2439)Ggt>Agt	p.G813S	TTC17_ENST00000299240.6_Missense_Mutation_p.G870S|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	813					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GCTGAAGAAAGGTCCCCAGGA	0.488																																						uc001mxi.2		NaN																	0				ovary(5)	5						c.(2437-2439)GGT>AGT		tetratricopeptide repeat domain 17							68.0	64.0	66.0					11																	43465060		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43465060G>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2437G>A	11.37:g.43465060G>A	ENSP00000039989:p.Gly813Ser					TTC17_uc001mxh.2_Missense_Mutation_p.G870S|TTC17_uc010rfj.1_Missense_Mutation_p.G813S|TTC17_uc001mxj.2_Missense_Mutation_p.G640S	p.G813S	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			17	2451	+			813					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.2437G>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855054	0.91355	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.36520	1.25;1.33	5.63	4.72	0.59763	.	0.140653	0.64402	D	0.000005	T	0.43942	0.1270	L	0.27053	0.805	0.42006	D	0.990913	D;P;D	0.76494	0.991;0.953;0.999	P;P;D	0.74348	0.831;0.473;0.983	T	0.23583	-1.0184	10	0.19147	T	0.46	-6.6215	14.2825	0.66221	0.0714:0.0:0.9286:0.0	.	870;813;870	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	S	870;813	ENSP00000299240:G870S;ENSP00000039989:G813S	ENSP00000039989:G813S	G	+	1	0	TTC17	43421636	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	5.969000	0.70422	1.381000	0.46364	0.557000	0.71058	GGT		0.488	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2		NM_018259		8	97	0	0	0	0.038147	0	8	97		
SSRP1	6749	broad.mit.edu	37	11	57100511	57100511	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:57100511G>A	ENST00000278412.2	-	5	725	c.459C>T	c.(457-459)aaC>aaT	p.N153N		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	153					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						CTGCGTCATCGTTTTGGTGGA	0.557																																					Colon(89;1000 1340 6884 23013 41819)	uc001njt.2		NaN																	0				ovary(2)	2						c.(457-459)AAC>AAT		structure specific recognition protein 1							197.0	162.0	174.0					11																	57100511		2201	4296	6497	SO:0001819	synonymous_variant	6749				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding	g.chr11:57100511G>A	M86737	CCDS7952.1	11q12	2008-02-05			ENSG00000149136	ENSG00000149136			11327	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 80 kDa subunit"""	604328				1372440	Standard	NM_003146		Approved	FACT80	uc001njt.3	Q08945	OTTHUMG00000167024	ENST00000278412.2:c.459C>T	11.37:g.57100511G>A						SSRP1_uc010rjq.1_Silent_p.N153N	p.N153N	NM_003146	NP_003137	Q08945	SSRP1_HUMAN			5	726	-			153					Q5BJG8	Silent	SNP	ENST00000278412.2	37	c.459C>T	CCDS7952.1																																																																																				0.557	SSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392460.1		NM_003146		76	98	0	0	0	0.048971	0	76	98		
MAP3K11	4296	broad.mit.edu	37	11	65375774	65375774	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:65375774C>T	ENST00000530153.1	-	2	635	c.114G>A	c.(112-114)aaG>aaA	p.K38K	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.K295K					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						AGGTGGAGGCCTTGATAACCT	0.627																																						uc001oew.2		NaN																	0				breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(883-885)AAG>AAA		mitogen-activated protein kinase kinase kinase							64.0	59.0	61.0					11																	65375774		2201	4297	6498	SO:0001819	synonymous_variant	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375774C>T		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.114G>A	11.37:g.65375774C>T						MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Silent_p.K38K|MAP3K11_uc001oex.1_5'UTR	p.K295K	NM_002419	NP_002410	Q16584	M3K11_HUMAN			2	1378	-			295			Protein kinase.			Silent	SNP	ENST00000530153.1	37	c.885G>A																																																																																					0.627	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2				22	63	0	0	0	0.016522	0	22	63		
GRM5	2915	broad.mit.edu	37	11	88583193	88583193	+	Silent	SNP	G	G	A	rs145650472		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:88583193G>A	ENST00000305447.4	-	2	941	c.792C>T	c.(790-792)ctC>ctT	p.L264L	GRM5_ENST00000418177.2_Silent_p.L264L|GRM5_ENST00000305432.5_Silent_p.L264L|GRM5_ENST00000393297.1_Silent_p.L264L|GRM5_ENST00000455756.2_Silent_p.L264L	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	264					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AGTGACTTGTGAGCTTCTTCA	0.547																																						uc001pcq.2		NaN																	0				central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(790-792)CTC>CTT		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)	G	,	1,4401	2.1+/-5.4	0,1,2200	41.0	43.0	42.0		792,792	0.9	0.8	11	dbSNP_134	42	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	GRM5	NM_000842.3,NM_001143831.2	,	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	,	264/1181,264/1213	88583193	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88583193G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.792C>T	11.37:g.88583193G>A						GRM5_uc009yvm.2_Silent_p.L264L	p.L264L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			2	992	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	264			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.792C>T	CCDS44694.1																																																																																				0.547	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842		27	42	0	0	0	0.041601	0	27	42		
CNTN5	53942	broad.mit.edu	37	11	99944885	99944886	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:99944885_99944886CC>AA	ENST00000524871.1	+	13	1729_1730	c.1439_1440CC>AA	c.(1438-1440)cCC>cAA	p.P480Q	CNTN5_ENST00000418526.2_Missense_Mutation_p.P406Q|CNTN5_ENST00000528682.1_Missense_Mutation_p.P480Q|CNTN5_ENST00000527185.1_Missense_Mutation_p.P480Q|CNTN5_ENST00000279463.3_Missense_Mutation_p.P480Q	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	480	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTTCAGCTCCCACTTTTGCAC	0.366																																						uc001pga.2		NaN																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1438-1440)CCC>CAA		contactin 5 isoform long																																				SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99944885_99944886CC>AA	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	Exception_encountered	11.37:g.99944885_99944886delinsAA	ENSP00000435637:p.Pro480Gln					CNTN5_uc009ywv.1_Missense_Mutation_p.P480Q|CNTN5_uc001pfz.2_Missense_Mutation_p.P480Q|CNTN5_uc001pgb.2_Missense_Mutation_p.P406Q	p.P480Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	13	1778_1779	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	480			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	DNP	ENST00000524871.1	37	c.1439_1440CC>AA	CCDS53696.1																																																																																				0.366	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2		NM_014361		11	8	0	0	0	0.004672	0	11	8		
DYNC2H1	79659	broad.mit.edu	37	11	103124075	103124075	+	Silent	SNP	C	C	G	rs574497162|rs431905500	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103124075C>G	ENST00000375735.2	+	66	10248	c.10104C>G	c.(10102-10104)ctC>ctG	p.L3368L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L3375L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3368	AAA 5. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AATTCCGCCTCTTTTTGTCAA	0.373																																						uc001pho.2		NaN																	0					0						c.(10102-10104)CTC>CTG		dynein, cytoplasmic 2, heavy chain 1							101.0	98.0	99.0					11																	103124075		1830	4079	5909	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103124075C>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.10104C>G	11.37:g.103124075C>G						DYNC2H1_uc001phn.1_Silent_p.L3375L|DYNC2H1_uc009yxe.1_Intron	p.L3368L	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	66	10248	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	3368			AAA 5 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.10104C>G	CCDS53701.1																																																																																				0.373	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1		XM_370652		34	52	0	0	0	0.050027	0	34	52		
DDI1	414301	broad.mit.edu	37	11	103908520	103908520	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:103908520C>A	ENST00000302259.3	+	1	1213	c.970C>A	c.(970-972)Caa>Aaa	p.Q324K	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	324							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		ACTTGAGGATCAACCCATGGA	0.448																																						uc001phr.2		NaN																	0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(970-972)CAA>AAA		DDI1, DNA-damage inducible 1, homolog 1							139.0	130.0	133.0					11																	103908520		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908520C>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.970C>A	11.37:g.103908520C>A	ENSP00000302805:p.Gln324Lys					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.Q324K	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	1213	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	324					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.970C>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174644	0.57692	.	.	ENSG00000170967	ENST00000302259	T	0.40225	1.04	5.21	5.21	0.72293	Peptidase aspartic (1);Peptidase aspartic, eukaryotic predicted (1);Peptidase aspartic, catalytic (1);	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	L	0.41415	1.275	0.58432	D	0.999997	D	0.63046	0.992	P	0.57057	0.812	T	0.14587	-1.0467	10	0.21014	T	0.42	-9.0192	16.6709	0.85266	0.0:1.0:0.0:0.0	.	324	Q8WTU0	DDI1_HUMAN	K	324	ENSP00000302805:Q324K	ENSP00000302805:Q324K	Q	+	1	0	DDI1	103413730	1.000000	0.71417	1.000000	0.80357	0.181000	0.23173	7.133000	0.77259	2.884000	0.98904	0.655000	0.94253	CAA		0.448	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1		NM_001001711		46	83	1	0	1.06522e-23	0.045515	1.18053e-23	46	83		
NCAM1	4684	broad.mit.edu	37	11	113145992	113145992	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:113145992G>A	ENST00000316851.7	+	18	2430	c.2430G>A	c.(2428-2430)aaG>aaA	p.K810K	NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	820					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCTGCAGGAAGGGCCCCGTAG	0.592																																						uc001pns.2		NaN																	0				ovary(1)	1						c.(715-717)AGG>AAG		SubName: Full=cDNA FLJ52974, highly similar to Neural cell adhesion molecule 1, 140 kDa isoform;							48.0	63.0	58.0					11																	113145992		2045	4195	6240	SO:0001819	synonymous_variant	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113145992G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2430G>A	11.37:g.113145992G>A						uc010rwu.1_5'Flank|NCAM1_uc001pnt.2_Silent_p.K55K	p.R239K			P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	6	748	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	Error:Variant_position_missing_in_P13591_after_alignment					A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000316851.7	37	c.716G>A		.	.	.	.	.	.	.	.	.	.	G	17.62	3.434195	0.62955	.	.	ENSG00000149294	ENST00000531044	.	.	.	5.45	-0.394	0.12434	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10543	-1.0625	6	.	.	.	.	9.2879	0.37769	0.5844:0.0:0.4156:0.0	.	731	E9PLH7	.	K	731	.	.	R	+	2	0	NCAM1	112651202	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	1.559000	0.36320	0.043000	0.15746	-0.140000	0.14226	AGG		0.592	NCAM1-201	KNOWN	basic	protein_coding	protein_coding			NM_000615		18	23	0	0	0	0.038395	0	18	23		
KMT2A	4297	broad.mit.edu	37	11	118348798	118348798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:118348798C>T	ENST00000389506.5	+	5	3451	c.3451C>T	c.(3451-3453)Cga>Tga	p.R1151*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R1151*|KMT2A_ENST00000534358.1_Nonsense_Mutation_p.R1151*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1151					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GAAAGGACGTCGATCGAGGCG	0.512																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(3451-3453)CGA>TGA		myeloid/lymphoid or mixed-lineage leukemia							182.0	181.0	181.0					11																	118348798		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118348798C>T	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.3451C>T	11.37:g.118348798C>T	ENSP00000374157:p.Arg1151*					MLL_uc001ptb.2_Nonsense_Mutation_p.R1151*	p.R1151*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	5	3474	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1151	R->A: Impairs DNA-binding.		CXXC-type.		E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.3451C>T	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	C	40	8.126688	0.98667	.	.	ENSG00000118058	ENST00000534358;ENST00000531904;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000533790	.	.	.	6.06	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3208	0.66484	0.2704:0.7296:0.0:0.0	.	.	.	.	X	1151;1184;1151;1151;61;229	.	ENSP00000346516:R1151X	R	+	1	2	MLL	117854008	0.998000	0.40836	0.993000	0.49108	0.963000	0.63663	2.392000	0.44433	1.550000	0.49438	0.655000	0.94253	CGA		0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		23	249	0	0	0	0.021523	0	23	249		
PANX3	116337	broad.mit.edu	37	11	124489476	124489476	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:124489476C>T	ENST00000284288.2	+	4	891	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	275					cell-cell signaling (GO:0007267)|ion transport (GO:0006811)|protein hexamerization (GO:0034214)|transmembrane transport (GO:0055085)	gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GTTAGCCTCTCCAGTGTAGCA	0.458																																						uc001qah.2		NaN																	0					0						c.(823-825)TCC>TTC		pannexin 3							117.0	108.0	111.0					11																	124489476		2201	4299	6500	SO:0001583	missense	116337				protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	g.chr11:124489476C>T	AF406650	CCDS8447.1	11q24.2	2011-12-02			ENSG00000154143	ENSG00000154143		"""Ion channels / Pannexins"""	20573	protein-coding gene	gene with protein product		608422					Standard	NM_052959		Approved	Px3	uc001qah.3	Q96QZ0	OTTHUMG00000165925	ENST00000284288.2:c.824C>T	11.37:g.124489476C>T	ENSP00000284288:p.Ser275Phe						p.S275F	NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)	4	824	+	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	275			Helical; (Potential).			Missense_Mutation	SNP	ENST00000284288.2	37	c.824C>T	CCDS8447.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539887	0.45176	.	.	ENSG00000154143	ENST00000284288	T	0.17854	2.25	5.39	4.45	0.53987	.	0.211123	0.49916	D	0.000130	T	0.22399	0.0540	L	0.36672	1.1	0.38322	D	0.943542	P	0.42203	0.773	P	0.48524	0.58	T	0.03981	-1.0987	10	0.40728	T	0.16	-13.011	15.0269	0.71677	0.0:0.7302:0.2698:0.0	.	275	Q96QZ0	PANX3_HUMAN	F	275	ENSP00000284288:S275F	ENSP00000284288:S275F	S	+	2	0	PANX3	123994686	0.939000	0.31865	0.920000	0.36463	0.657000	0.38888	2.336000	0.43938	1.215000	0.43411	0.561000	0.74099	TCC		0.458	PANX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387064.1				22	47	0	0	0	0.062417	0	22	47		
TULP3	7289	broad.mit.edu	37	12	3040245	3040245	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:3040245G>C	ENST00000448120.2	+	6	586	c.535G>C	c.(535-537)Gat>Cat	p.D179H	RNU7-166P_ENST00000459397.1_RNA|TULP3_ENST00000397132.2_Missense_Mutation_p.D179H	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	179				TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1; AAC95431). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|bone development (GO:0060348)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|central nervous system neuron differentiation (GO:0021953)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic neurocranium morphogenesis (GO:0048702)|G-protein coupled receptor signaling pathway (GO:0007186)|ganglion development (GO:0061548)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cilium (GO:0005929)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CCAACCAGCTGATAACCTCCT	0.507																																						uc010seh.1		NaN																	0					0						c.(535-537)GAT>CAT		tubby like protein 3 isoform 1							126.0	122.0	123.0					12																	3040245		2203	4300	6503	SO:0001583	missense	7289				G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding	g.chr12:3040245G>C	AF045583	CCDS8519.1, CCDS53737.1	12p13	2014-02-21			ENSG00000078246	ENSG00000078246		"""Intraflagellar transport homologs"""	12425	protein-coding gene	gene with protein product		604730				9828123	Standard	NM_003324		Approved	TUBL3	uc001qlj.2	O75386	OTTHUMG00000168152	ENST00000448120.2:c.535G>C	12.37:g.3040245G>C	ENSP00000410051:p.Asp179His					TULP3_uc010sef.1_RNA|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D179H|TULP3_uc010sei.1_Missense_Mutation_p.D36H	p.D179H	NM_003324	NP_003315	O75386	TULP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		6	616	+			179	TSGSATAAQPADNL -> IPVLLLPPNQLITF (in Ref. 1).				B3KNB7|B7Z6A2|D3DUQ4|F8WBZ9|Q8N5B0	Missense_Mutation	SNP	ENST00000448120.2	37	c.535G>C	CCDS8519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.624|7.624	0.677362|0.677362	0.14841|0.14841	.|.	.|.	ENSG00000078246|ENSG00000078246	ENST00000228245;ENST00000542730;ENST00000448120;ENST00000397132|ENST00000535226	D;D|.	0.92397|.	-3.0;-3.03|.	5.58|5.58	4.68|4.68	0.58851|0.58851	Tubby, C-terminal (1);|.	0.392465|.	0.25593|.	N|.	0.029616|.	T|.	0.39064|.	0.1064|.	L|L	0.32530|0.32530	0.975|0.975	0.09310|0.09310	N|N	0.999999|0.999999	B;P;P|.	0.52692|.	0.007;0.563;0.955|.	B;B;P|.	0.49799|.	0.009;0.292;0.622|.	T|.	0.23655|.	-1.0182|.	10|.	0.45353|.	T|.	0.12|.	-10.5607|-10.5607	13.2761|13.2761	0.60188|0.60188	0.0759:0.0:0.9241:0.0|0.0759:0.0:0.9241:0.0	.|.	36;179;179|.	B7Z1E7;O75386;F8WBZ9|.	.;TULP3_HUMAN;.|.	H|S	179;36;179;179|171	ENSP00000410051:D179H;ENSP00000380321:D179H|.	ENSP00000228245:D179H|.	D|X	+|+	1|2	0|2	TULP3|TULP3	2910506|2910506	1.000000|1.000000	0.71417|0.71417	0.019000|0.019000	0.16419|0.16419	0.029000|0.029000	0.11900|0.11900	6.790000|6.790000	0.75115|0.75115	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	GAT|TGA		0.507	TULP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398468.1		NM_003324		48	80	0	0	0	0.048971	0	48	80		
KCNA5	3741	broad.mit.edu	37	12	5154246	5154246	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:5154246G>A	ENST00000252321.3	+	1	1162	c.933G>A	c.(931-933)acG>acA	p.T311T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	311					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	CTGGCCCTACGGTGGCACCGC	0.711																																						uc001qni.2		NaN																	0				ovary(2)|breast(2)	4						c.(931-933)ACG>ACA		potassium voltage-gated channel, shaker-related							40.0	42.0	41.0					12																	5154246		2203	4298	6501	SO:0001819	synonymous_variant	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154246G>A	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.933G>A	12.37:g.5154246G>A							p.T311T	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1162	+			311					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	ENST00000252321.3	37	c.933G>A	CCDS8536.1																																																																																				0.711	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2		NM_002234		53	91	0	0	0	0.048971	0	53	91		
LTBR	4055	broad.mit.edu	37	12	6499851	6499851	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:6499851C>T	ENST00000228918.4	+	10	1382	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	LTBR_ENST00000539925.1_Silent_p.G333G|LTBR_ENST00000541102.1_Silent_p.G209G	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	352					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						ATGTCACCGGCGGGTCTATGA	0.562																																						uc001qny.1		NaN																	0				lung(2)	2						c.(1054-1056)GGC>GGT		lymphotoxin beta receptor precursor							128.0	132.0	130.0					12																	6499851		2203	4300	6503	SO:0001819	synonymous_variant	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499851C>T	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.1056C>T	12.37:g.6499851C>T						LTBR_uc010sfc.1_Silent_p.G333G|LTBR_uc001qnz.1_Silent_p.G347G	p.G352G	NM_002342	NP_002333	P36941	TNR3_HUMAN			10	1224	+			352			Cytoplasmic (Potential).		B7Z1D2|D3DUR2|F5GXE7	Silent	SNP	ENST00000228918.4	37	c.1056C>T	CCDS8544.1																																																																																				0.562	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1				96	98	0	0	0	0.048971	0	96	98		
AICDA	57379	broad.mit.edu	37	12	8758001	8758001	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:8758001G>A	ENST00000229335.6	-	3	340	c.237C>T	c.(235-237)acC>acT	p.T79T	AICDA_ENST00000537228.1_Silent_p.T79T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	79					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGGTGAACCAGGTGACGCGGT	0.627																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(235-237)ACC>ACT		activation-induced cytidine deaminase							48.0	54.0	52.0					12																	8758001		2128	4243	6371	SO:0001819	synonymous_variant	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758001G>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.237C>T	12.37:g.8758001G>A						AICDA_uc001qup.1_Silent_p.T74T|AICDA_uc001quq.1_Silent_p.T74T|AICDA_uc009zgd.1_Intron	p.T79T	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	316	-	Lung SC(5;0.184)		79					Q6QJ81|Q8NFC1	Silent	SNP	ENST00000229335.6	37	c.237C>T	CCDS41747.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431948	0.25813	.	.	ENSG00000111732	ENST00000543081;ENST00000545512	.	.	.	5.43	2.41	0.29592	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38672	-0.9650	4	.	.	.	-24.5786	1.3506	0.02172	0.1853:0.137:0.4525:0.2252	.	.	.	.	L	78	.	.	P	-	2	0	AICDA	8649268	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.965000	0.40471	1.297000	0.44761	0.462000	0.41574	CCT		0.627	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1		NM_020661		25	66	0	0	0	0.01892	0	25	66		
C12orf36	283422	broad.mit.edu	37	12	13526293	13526293	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:13526293G>A	ENST00000318426.2	-	3	479	c.262C>T	c.(262-264)Cct>Tct	p.P88S	C12orf36_ENST00000531049.1_5'Flank|C12orf36_ENST00000527705.2_Missense_Mutation_p.P88S					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		CCCAGGGGAGGAGCTCGTGCA	0.463																																						uc001rbs.1		NaN																	0					0						c.(262-264)CCT>TCT		hypothetical protein LOC283422							130.0	131.0	130.0					12																	13526293		2203	4300	6503	SO:0001583	missense	283422							g.chr12:13526293G>A	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.262C>T	12.37:g.13526293G>A	ENSP00000443007:p.Pro88Ser						p.P88S	NM_182558	NP_872364				BRCA - Breast invasive adenocarcinoma(232;0.198)	3	480	-									Missense_Mutation	SNP	ENST00000318426.2	37	c.262C>T		.	.	.	.	.	.	.	.	.	.	G	6.152	0.396180	0.11638	.	.	ENSG00000180861	ENST00000318426;ENST00000527705	T;T	0.32272	1.46;1.46	3.25	0.212	0.15240	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.24799	-1.0150	8	0.87932	D	0	.	5.4407	0.16507	0.4201:0.0:0.5799:0.0	.	88	Q495D7	CL036_HUMAN	S	88	ENSP00000443007:P88S;ENSP00000443346:P88S	ENSP00000443007:P88S	P	-	1	0	C12orf36	13417560	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-0.064000	0.11636	0.040000	0.15660	0.561000	0.74099	CCT		0.463	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000395025.2		NM_182558		63	81	0	0	0	0.048971	0	63	81		
SLCO1C1	53919	broad.mit.edu	37	12	20874968	20874968	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:20874968A>T	ENST00000266509.2	+	8	1374	c.1006A>T	c.(1006-1008)Atg>Ttg	p.M336L	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.M287L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.M218L|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.M336L|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.M336L	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	336					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGCAAAAATAATGGAAATGGC	0.353																																						uc001rej.3		NaN																	0				ovary(5)|pancreas(1)|skin(1)	7						c.(1006-1008)ATG>TTG		solute carrier organic anion transporter family,							41.0	44.0	43.0					12																	20874968		2191	4297	6488	SO:0001583	missense	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20874968A>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.1006A>T	12.37:g.20874968A>T	ENSP00000266509:p.Met336Leu					SLCO1C1_uc010sii.1_Missense_Mutation_p.M336L|SLCO1C1_uc010sij.1_Missense_Mutation_p.M287L|SLCO1C1_uc009zip.2_Missense_Mutation_p.M170L|SLCO1C1_uc001rei.2_Missense_Mutation_p.M336L|SLCO1C1_uc010sik.1_Missense_Mutation_p.M218L	p.M336L	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN			9	1361	+	Esophageal squamous(101;0.149)		336			Cytoplasmic (Potential).		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	37	c.1006A>T	CCDS8683.1	.	.	.	.	.	.	.	.	.	.	A	3.161	-0.172097	0.06421	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.76	0.88	0.19161	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.037920	0.07445	N	0.898071	T	0.11452	0.0279	N	0.00926	-1.1	0.24971	N	0.991668	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.0;0.0;0.0	T	0.31194	-0.9952	10	0.10902	T	0.67	.	6.8305	0.23907	0.2765:0.5379:0.1856:0.0	.	218;287;336;336	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	L	336;287;336;336;218	ENSP00000444149:M336L;ENSP00000438665:M287L;ENSP00000266509:M336L;ENSP00000370964:M336L;ENSP00000444527:M218L	ENSP00000266509:M336L	M	+	1	0	SLCO1C1	20766235	0.190000	0.23276	0.969000	0.41365	0.937000	0.57800	0.220000	0.17660	0.406000	0.25560	0.460000	0.39030	ATG		0.353	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1		NM_017435		14	27	0	0	0	0.024245	0	14	27		
KRT75	9119	broad.mit.edu	37	12	52827910	52827910	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52827910C>T	ENST00000252245.5	-	1	399	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	60	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GTAGAGGCTGCGGCTTCCAAA	0.652																																						uc001saj.2		NaN																	0					0						c.(178-180)CGC>CAC		keratin 75							47.0	49.0	49.0					12																	52827910		2203	4300	6503	SO:0001583	missense	9119					keratin filament	structural molecule activity	g.chr12:52827910C>T	Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.179G>A	12.37:g.52827910C>T	ENSP00000252245:p.Arg60His						p.R60H	NM_004693	NP_004684	O95678	K2C75_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.192)	1	201	-			60			Gly-rich.|Head.		B4DQU4|Q9NSA9	Missense_Mutation	SNP	ENST00000252245.5	37	c.179G>A	CCDS8827.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654383	0.67472	.	.	ENSG00000170454	ENST00000252245	T	0.44083	0.93	5.74	2.93	0.34026	.	0.117427	0.35772	N	0.002997	T	0.55593	0.1930	M	0.64260	1.97	0.31508	N	0.663962	D	0.89917	1.0	D	0.71870	0.975	T	0.59925	-0.7362	10	0.48119	T	0.1	.	8.6794	0.34198	0.1246:0.7444:0.0:0.1311	.	60	O95678	K2C75_HUMAN	H	60	ENSP00000252245:R60H	ENSP00000252245:R60H	R	-	2	0	KRT75	51114177	0.983000	0.35010	1.000000	0.80357	0.976000	0.68499	1.626000	0.37039	0.347000	0.23924	0.655000	0.94253	CGC		0.652	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404968.1		NM_004693		10	114	0	0	0	0.058154	0	10	114		
KRT6C	286887	broad.mit.edu	37	12	52862934	52862934	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:52862934C>T	ENST00000252250.6	-	9	1654	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	536	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAGGCCACCCCCAATGGCTCT	0.592																																						uc001sal.3		NaN																	0				ovary(2)	2						c.(1606-1608)GGG>GAG		keratin 6C							83.0	82.0	82.0					12																	52862934		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52862934C>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1607G>A	12.37:g.52862934C>T	ENSP00000252250:p.Gly536Glu						p.G536E	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	9	1655	-			536			Tail.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1607G>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249305	0.22880	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.89746	-2.56	3.56	2.64	0.31445	.	0.157021	0.30252	N	0.010058	D	0.91216	0.7232	M	0.85041	2.73	0.35285	D	0.781666	P	0.47106	0.89	P	0.48114	0.567	D	0.93518	0.6859	10	0.51188	T	0.08	.	13.0105	0.58729	0.0:0.8363:0.1637:0.0	.	536	P48668	K2C6C_HUMAN	E	536;521	ENSP00000252250:G536E	ENSP00000252250:G536E	G	-	2	0	KRT6C	51149201	0.034000	0.19679	0.011000	0.14972	0.346000	0.29079	1.752000	0.38349	0.797000	0.33971	0.442000	0.29010	GGG		0.592	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1		NM_173086		25	72	0	0	0	0.030593	0	25	72		
SPIC	121599	broad.mit.edu	37	12	101880371	101880371	+	Missense_Mutation	SNP	C	C	T	rs539976810		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:101880371C>T	ENST00000551346.1	+	6	728	c.569C>T	c.(568-570)aCt>aTt	p.T190I	SPIC_ENST00000299272.5_Missense_Mutation_p.T190I			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	190					blastocyst development (GO:0001824)|cell differentiation (GO:0030154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						AGGAAGCTGACTTACCAGTTC	0.443																																						uc001tid.2		NaN																	0				skin(1)	1						c.(568-570)ACT>ATT		Spi-C transcription factor (Spi-1/PU.1 related)							92.0	93.0	93.0					12																	101880371		2203	4300	6503	SO:0001583	missense	121599					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:101880371C>T	AF518404	CCDS9082.1	12q23	2005-10-18				ENSG00000166211			29549	protein-coding gene	gene with protein product		612568				12459275	Standard	NM_152323		Approved	MGC40611, SPI-C	uc021rcq.1	Q8N5J4	OTTHUMG00000170273	ENST00000551346.1:c.569C>T	12.37:g.101880371C>T	ENSP00000448580:p.Thr190Ile					SPIC_uc009zua.2_Missense_Mutation_p.T65I|SPIC_uc010svp.1_Missense_Mutation_p.T189I	p.T190I	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN			6	728	+			190			ETS.			Missense_Mutation	SNP	ENST00000551346.1	37	c.569C>T	CCDS9082.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855157	0.51376	.	.	ENSG00000166211	ENST00000551346;ENST00000299272	T;T	0.21932	1.98;1.98	4.42	3.52	0.40303	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.094703	0.64402	N	0.000001	T	0.41766	0.1173	M	0.67625	2.065	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.34725	-0.9817	10	0.66056	D	0.02	-1.3324	12.6333	0.56669	0.0:0.9185:0.0:0.0815	.	190	Q8N5J4	SPIC_HUMAN	I	190	ENSP00000448580:T190I;ENSP00000299272:T190I	ENSP00000299272:T190I	T	+	2	0	SPIC	100404502	1.000000	0.71417	0.997000	0.53966	0.916000	0.54674	5.574000	0.67424	0.991000	0.38814	0.650000	0.86243	ACT		0.443	SPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408260.1		NM_152323		12	116	0	0	0	0.016723	0	12	116		
STAB2	55576	broad.mit.edu	37	12	104067714	104067714	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104067714A>G	ENST00000388887.2	+	23	2605	c.2401A>G	c.(2401-2403)Aac>Gac	p.N801D		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATGCAATAACAGGATAGA	0.592																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(2401-2403)AAC>GAC		stabilin 2 precursor							82.0	72.0	75.0					12																	104067714		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104067714A>G	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2401A>G	12.37:g.104067714A>G	ENSP00000373539:p.Asn801Asp						p.N801D	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			23	2587	+			801			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.2401A>G	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.503795	0.64410	.	.	ENSG00000136011	ENST00000388887	D	0.83992	-1.79	5.42	5.42	0.78866	.	0.051675	0.64402	D	0.000001	T	0.74238	0.3690	L	0.29908	0.895	0.43688	D	0.996137	P	0.52316	0.952	B	0.41374	0.355	T	0.74182	-0.3748	10	0.29301	T	0.29	.	14.4491	0.67372	1.0:0.0:0.0:0.0	.	801	Q8WWQ8	STAB2_HUMAN	D	801	ENSP00000373539:N801D	ENSP00000373539:N801D	N	+	1	0	STAB2	102591844	1.000000	0.71417	0.774000	0.31636	0.292000	0.27327	8.388000	0.90170	2.054000	0.61138	0.459000	0.35465	AAC		0.592	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				47	50	0	0	0	0.045515	0	47	50		
STAB2	55576	broad.mit.edu	37	12	104092983	104092983	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:104092983G>A	ENST00000388887.2	+	34	3896	c.3692G>A	c.(3691-3693)aGc>aAc	p.S1231N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATTTCCTTAGCTTCTTTCTC	0.473																																						uc001tjw.2		NaN																	0				ovary(9)|skin(5)	14						c.(3691-3693)AGC>AAC		stabilin 2 precursor							201.0	168.0	179.0					12																	104092983		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104092983G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3692G>A	12.37:g.104092983G>A	ENSP00000373539:p.Ser1231Asn						p.S1231N	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			34	3878	+			1231			Extracellular (Potential).|FAS1 4.			Missense_Mutation	SNP	ENST00000388887.2	37	c.3692G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	9.484	1.098957	0.20552	.	.	ENSG00000136011	ENST00000388887	D	0.89875	-2.58	5.35	3.48	0.39840	FAS1 domain (5);Growth factor, receptor (1);	0.238483	0.41396	D	0.000884	T	0.80586	0.4651	N	0.20986	0.625	0.22779	N	0.998749	B	0.12013	0.005	B	0.06405	0.002	T	0.59053	-0.7526	10	0.13470	T	0.59	.	15.4725	0.75449	0.0:0.2722:0.7278:0.0	.	1231	Q8WWQ8	STAB2_HUMAN	N	1231	ENSP00000373539:S1231N	ENSP00000373539:S1231N	S	+	2	0	STAB2	102617113	1.000000	0.71417	0.814000	0.32528	0.025000	0.11179	3.819000	0.55686	0.605000	0.29947	0.561000	0.74099	AGC		0.473	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1				16	26	0	0	0	0.0333	0	16	26		
MLXIP	22877	broad.mit.edu	37	12	122626341	122626341	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:122626341G>A	ENST00000319080.7	+	17	2874	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	MLXIP_ENST00000538698.1_Silent_p.K521K					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		GGATTGGCAAGAGATTGGGAG	0.622																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	uc001ubq.2		NaN																	0				ovary(2)	2						c.(2740-2742)AAG>AAA		MLX interacting protein							81.0	89.0	86.0					12																	122626341		2127	4236	6363	SO:0001819	synonymous_variant	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122626341G>A	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.2742G>A	12.37:g.122626341G>A						MLXIP_uc001ubt.2_Silent_p.K521K	p.K914K	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	17	2742	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	914						Silent	SNP	ENST00000319080.7	37	c.2742G>A																																																																																					0.622	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2		NM_014938		40	73	0	0	0	0.036044	0	40	73		
TMEM132B	114795	broad.mit.edu	37	12	126138270	126138270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:126138270G>T	ENST00000299308.3	+	9	2259	c.2251G>T	c.(2251-2253)Gag>Tag	p.E751*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.E263*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	751						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGTGGTTGCAGAGGGTGAAGG	0.433																																						uc001uhe.1		NaN																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(2251-2253)GAG>TAG		transmembrane protein 132B							137.0	131.0	133.0					12																	126138270		1920	4139	6059	SO:0001587	stop_gained	114795					integral to membrane		g.chr12:126138270G>T	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2251G>T	12.37:g.126138270G>T	ENSP00000299308:p.Glu751*					TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E263*	p.E751*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2259	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		751			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	ENST00000299308.3	37	c.2251G>T	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	37	6.341800	0.97489	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.81	4.91	0.64330	.	0.082745	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	16.7474	0.85476	0.0:0.1364:0.8636:0.0	.	.	.	.	X	751;263	.	ENSP00000299308:E751X	E	+	1	0	TMEM132B	124704223	1.000000	0.71417	0.952000	0.39060	0.969000	0.65631	7.616000	0.83018	1.435000	0.47434	0.650000	0.86243	GAG		0.433	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907		50	89	1	0	1.30916e-28	0.048971	1.48142e-28	50	89		
PCDH20	64881	broad.mit.edu	37	13	61987073	61987073	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:61987073C>A	ENST00000409186.1	-	5	3264	c.1159G>T	c.(1159-1161)Gga>Tga	p.G387*	PCDH20_ENST00000409204.4_Nonsense_Mutation_p.G387*			Q8N6Y1	PCD20_HUMAN	protocadherin 20	387	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		ACACTTCCTCCAATCTTACTG	0.398																																						uc001vid.3		NaN																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(1159-1161)GGA>TGA		protocadherin 20							99.0	97.0	98.0					13																	61987073		2203	4300	6503	SO:0001587	stop_gained	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61987073C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1159G>T	13.37:g.61987073C>A	ENSP00000386653:p.Gly387*					PCDH20_uc010thj.1_Nonsense_Mutation_p.G387*	p.G387*	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	1523	-		Breast(118;0.195)|Prostate(109;0.229)	360			Cadherin 3.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Nonsense_Mutation	SNP	ENST00000409186.1	37	c.1159G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	35	5.573009	0.96553	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	.	.	.	5.91	5.91	0.95273	.	0.097560	0.45867	D	0.000327	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4483	0.67367	0.0:0.9301:0.0:0.0699	.	.	.	.	X	387;387;133	.	ENSP00000351500:G133X	G	-	1	0	PCDH20	60885074	1.000000	0.71417	0.969000	0.41365	0.215000	0.24574	3.995000	0.57001	2.813000	0.96785	0.655000	0.94253	GGA		0.398	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843		58	96	1	0	1.61742e-36	0.048971	1.86959e-36	58	96		
KLF5	688	broad.mit.edu	37	13	73636642	73636642	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr13:73636642C>A	ENST00000377687.4	+	2	1441	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Missense_Mutation_p.P211Q	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	302					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|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(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TACTTTCCCCCGTCACCACCA	0.502																																						uc001vje.2		NaN																	0				large_intestine(1)|ovary(1)|pancreas(1)	3						c.(904-906)CCG>CAG		Kruppel-like factor 5							121.0	100.0	107.0					13																	73636642		2203	4300	6503	SO:0001583	missense	688				transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr13:73636642C>A	D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.905C>A	13.37:g.73636642C>A	ENSP00000366915:p.Pro302Gln					KLF5_uc001vjd.2_Missense_Mutation_p.P211Q	p.P302Q	NM_001730	NP_001721	Q13887	KLF5_HUMAN		GBM - Glioblastoma multiforme(99;0.0011)	2	1229	+		Prostate(6;0.00187)|Breast(118;0.0735)	302					L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	ENST00000377687.4	37	c.905C>A	CCDS9448.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217806	0.79352	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.10668	3.06;2.85	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00178	-1.1951	10	0.56958	D	0.05	.	20.3085	0.98641	0.0:1.0:0.0:0.0	.	302	Q13887	KLF5_HUMAN	Q	211;302;282	ENSP00000440407:P211Q;ENSP00000366915:P302Q	ENSP00000366915:P302Q	P	+	2	0	KLF5	72534643	1.000000	0.71417	0.973000	0.42090	0.988000	0.76386	7.338000	0.79269	2.797000	0.96272	0.555000	0.69702	CCG		0.502	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045263.1				67	63	1	0	2.89935e-36	0.048971	3.33348e-36	67	63		
OR4N2	390429	broad.mit.edu	37	14	20296395	20296395	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:20296395G>T	ENST00000315947.1	+	1	788	c.788G>T	c.(787-789)aGg>aTg	p.R263M	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CGCCCCTTCAGGGCTTTCCCA	0.458																																						uc010tkv.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(787-789)AGG>ATG		olfactory receptor, family 4, subfamily N,							100.0	106.0	104.0					14																	20296395		2203	4300	6503	SO:0001583	missense	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296395G>T		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.788G>T	14.37:g.20296395G>T	ENSP00000319601:p.Arg263Met						p.R263M	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	788	+	all_cancers(95;0.00108)		263			Extracellular (Potential).		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	c.788G>T	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	11.90	1.776150	0.31411	.	.	ENSG00000176294	ENST00000315947	T	0.00084	8.75	4.57	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.141093	0.33235	N	0.005121	T	0.00178	0.0005	L	0.42245	1.32	0.09310	N	1	P	0.45531	0.86	P	0.49637	0.617	T	0.42361	-0.9456	10	0.72032	D	0.01	-9.2188	5.8833	0.18868	0.1944:0.1714:0.6342:0.0	.	263	Q8NGD1	OR4N2_HUMAN	M	263	ENSP00000319601:R263M	ENSP00000319601:R263M	R	+	2	0	OR4N2	19366235	0.000000	0.05858	0.604000	0.28916	0.595000	0.36748	-0.042000	0.12063	0.616000	0.30141	0.591000	0.81541	AGG		0.458	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2				52	73	1	0	4.6707e-30	0.048971	5.31323e-30	52	73		
PRKD1	5587	broad.mit.edu	37	14	30100021	30100021	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:30100021C>T	ENST00000331968.5	-	10	1828	c.1599G>A	c.(1597-1599)gaG>gaA	p.E533E	PRKD1_ENST00000415220.2_Silent_p.E541E	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	533	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGATGGCTATCTCCCACATCC	0.522																																						uc001wqh.2		NaN																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(1597-1599)GAG>GAA		protein kinase D1							194.0	150.0	165.0					14																	30100021		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30100021C>T		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1599G>A	14.37:g.30100021C>T							p.E533E	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	10	1780	-	Hepatocellular(127;0.0604)		533			PH.		A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.1599G>A	CCDS9637.1																																																																																				0.522	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2		NM_002742		9	135	0	0	0	0.047766	0	9	135		
FANCM	57697	broad.mit.edu	37	14	45605269	45605269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:45605269G>A	ENST00000267430.5	+	1	120	c.35G>A	c.(34-36)tGg>tAg	p.W12*	FANCM_ENST00000556036.1_Nonsense_Mutation_p.W12*|FKBP3_ENST00000216330.3_5'Flank|FKBP3_ENST00000396062.3_5'Flank|FANCM_ENST00000542564.2_Nonsense_Mutation_p.W12*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	12					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTCAGACGTGGGGCTCAAGT	0.587								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3		NaN																	0				ovary(3)|lung(2)|breast(2)	7						c.(34-36)TGG>TAG	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							54.0	55.0	55.0					14																	45605269		2194	4279	6473	SO:0001587	stop_gained	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45605269G>A	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.35G>A	14.37:g.45605269G>A	ENSP00000267430:p.Trp12*					FANCM_uc001wwc.2_Nonsense_Mutation_p.W12*|FANCM_uc010anf.2_Nonsense_Mutation_p.W12*|FKBP3_uc010tqf.1_5'Flank	p.W12*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			1	134	+			12					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	c.35G>A	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	G	33	5.273766	0.95459	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1388	0.72595	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000267430:W12X	W	+	2	0	FANCM	44675019	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	6.803000	0.75180	2.430000	0.82344	0.462000	0.41574	TGG		0.587	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1		XM_048128		47	81	0	0	0	0.042209	0	47	81		
DNAAF2	55172	broad.mit.edu	37	14	50100212	50100212	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:50100212C>A	ENST00000298292.8	-	1	1736	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	DNAAF2_ENST00000406043.3_Missense_Mutation_p.L552F	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	552					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)				kidney(1)|lung(4)	5						AGAGGGGATTCAAATCTCCTT	0.443																																						uc001wws.3		NaN																	0					0						c.(1654-1656)TTG>TTT		kintoun isoform 1							58.0	59.0	59.0					14																	50100212		2203	4300	6503	SO:0001583	missense	55172	Kartagener_syndrome			axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm		g.chr14:50100212C>A	AK001425	CCDS9691.2, CCDS45100.1	14q21.3	2012-05-03	2011-06-09	2011-06-09	ENSG00000165506	ENSG00000165506			20188	protein-coding gene	gene with protein product	"""kintoun"""	612517	"""chromosome 14 open reading frame 104"""	C14orf104			Standard	NM_001083908		Approved	FLJ10563, KTU, PF13, CILD10	uc001wws.4	Q9NVR5	OTTHUMG00000152331	ENST00000298292.8:c.1656G>T	14.37:g.50100212C>A	ENSP00000298292:p.Leu552Phe					SDCCAG1_uc010anj.1_Intron|C14orf104_uc001wwt.3_Missense_Mutation_p.L552F	p.L552F	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN			1	1737	-	all_epithelial(31;0.0021)|Breast(41;0.0124)		552					B9WS54|C0JAP7|Q86TR1|Q86TY8|Q969Z5	Missense_Mutation	SNP	ENST00000298292.8	37	c.1656G>T	CCDS9691.2	.	.	.	.	.	.	.	.	.	.	c	13.41	2.227863	0.39399	.	.	ENSG00000165506	ENST00000298292;ENST00000406043	T;T	0.15487	2.42;2.42	5.27	4.36	0.52297	.	1.306700	0.05541	N	0.565757	T	0.33235	0.0856	L	0.46157	1.445	0.26551	N	0.97391	P;D	0.53619	0.944;0.961	P;P	0.56042	0.79;0.708	T	0.27806	-1.0063	10	0.51188	T	0.08	.	13.001	0.58676	0.0:0.9233:0.0:0.0767	.	552;552	Q9NVR5-2;Q9NVR5	.;KTU_HUMAN	F	552	ENSP00000298292:L552F;ENSP00000384862:L552F	ENSP00000298292:L552F	L	-	3	2	DNAAF2	49169962	0.328000	0.24687	0.510000	0.27712	0.406000	0.30931	0.143000	0.16115	1.337000	0.45525	0.555000	0.69702	TTG		0.443	DNAAF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276813.1				17	48	1	0	3.32936e-07	0.038395	3.45803e-07	17	48		
NID2	22795	broad.mit.edu	37	14	52474664	52474664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:52474664C>T	ENST00000216286.5	-	19	3743	c.3744G>A	c.(3742-3744)tgG>tgA	p.W1248*	NID2_ENST00000541773.1_Nonsense_Mutation_p.W1147*	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1248					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCTCTATTCCAGTCTGTCC	0.403																																						uc001wzo.2		NaN																	0				pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3742-3744)TGG>TGA		nidogen 2 precursor							93.0	87.0	89.0					14																	52474664		2202	4300	6502	SO:0001587	stop_gained	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52474664C>T	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3744G>A	14.37:g.52474664C>T	ENSP00000216286:p.Trp1248*					NID2_uc010tqs.1_Nonsense_Mutation_p.W1200*|NID2_uc010tqt.1_Nonsense_Mutation_p.W1248*	p.W1248*	NM_007361	NP_031387	Q14112	NID2_HUMAN			19	3978	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1248			LDL-receptor class B 3.		A8K6I7|B4DU19|O43710	Nonsense_Mutation	SNP	ENST00000216286.5	37	c.3744G>A	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.938218|9.938218	0.99300|0.99300	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773	.|.	.|.	.|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48223|.	0.1488|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37454|.	-0.9705|.	3|.	.|0.02654	.|T	.|1	.|.	19.919|19.919	0.97077|0.97077	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	517|1248;842;1147	.|.	.|ENSP00000216286:W1248X	E|W	-|-	1|3	0|0	NID2|NID2	51544414|51544414	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.814000|7.814000	0.86154|0.86154	2.707000|2.707000	0.92482|0.92482	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.403	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				5	54	0	0	0	0.014758	0	5	54		
SLC35F4	341880	broad.mit.edu	37	14	58038711	58038711	+	Silent	SNP	G	G	A	rs376795716		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:58038711G>A	ENST00000339762.6	-	5	941	c.942C>T	c.(940-942)acC>acT	p.T314T	SLC35F4_ENST00000556826.1_Silent_p.T278T|SLC35F4_ENST00000554729.1_Silent_p.T155T			A4IF30	S35F4_HUMAN	solute carrier family 35, member F4	314	EamA.				transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGACAATGCCGGTAATTGCCA	0.433																																						uc001xdb.1		NaN																	0				ovary(2)	2						c.(940-942)ACC>ACT		solute carrier family 35, member F4		G		1,3993		0,1,1996	78.0	77.0	78.0		831	-11.2	0.0	14		78	0,8366		0,0,4183	no	coding-synonymous	SLC35F4	NM_001206920.1		0,1,6179	AA,AG,GG		0.0,0.025,0.0081		277/485	58038711	1,12359	1997	4183	6180	SO:0001819	synonymous_variant	341880							g.chr14:58038711G>A			14q22.3	2013-05-22		2003-11-28	ENSG00000151812	ENSG00000151812		"""Solute carriers"""	19845	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 36"""	C14orf36			Standard	NM_001206920		Approved	FLJ37712	uc021rtp.1	A4IF30	OTTHUMG00000171317	ENST00000339762.6:c.942C>T	14.37:g.58038711G>A						SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Silent_p.T155T	p.T314T	NM_001080455	NP_001073924					5	942	-								A6NDQ3	Silent	SNP	ENST00000339762.6	37	c.942C>T																																																																																					0.433	SLC35F4-201	KNOWN	basic	protein_coding	protein_coding			XM_292260		9	12	0	0	0	0.008291	0	9	12		
SLC10A1	6554	broad.mit.edu	37	14	70252943	70252943	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:70252943A>G	ENST00000216540.4	-	2	571	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	146					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	GGTCCCCATCATAGATCCCCC	0.522																																						uc001xlr.2		NaN																	0				ovary(1)	1						c.(436-438)TAT>TAC		solute carrier family 10, member 1							185.0	155.0	165.0					14																	70252943		2203	4300	6503	SO:0001819	synonymous_variant	6554				bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	g.chr14:70252943A>G	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.438T>C	14.37:g.70252943A>G							p.Y146Y	NM_003049	NP_003040	Q14973	NTCP_HUMAN		all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	2	572	-			146					B9EGB6|Q2TU29	Silent	SNP	ENST00000216540.4	37	c.438T>C	CCDS9797.1																																																																																				0.522	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1				56	72	0	0	0	0.048971	0	56	72		
UNC79	57578	broad.mit.edu	37	14	94088092	94088092	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:94088092G>A	ENST00000393151.2	+	30	4513	c.4513G>A	c.(4513-4515)Ggg>Agg	p.G1505R	UNC79_ENST00000553484.1_Missense_Mutation_p.G1527R|UNC79_ENST00000256339.4_Missense_Mutation_p.G1328R|UNC79_ENST00000555664.1_Missense_Mutation_p.G1505R			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1505					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTTGATATAGGGAATGCAGA	0.438																																						uc001ybv.1		NaN																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(4048-4050)GGG>AGG		hypothetical protein LOC57578							90.0	88.0	88.0					14																	94088092		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94088092G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.4513G>A	14.37:g.94088092G>A	ENSP00000376858:p.Gly1505Arg					KIAA1409_uc001ybs.1_Missense_Mutation_p.G1328R	p.G1350R	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	28	4131	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1505					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.4048G>A		.	.	.	.	.	.	.	.	.	.	G	17.84	3.487777	0.64074	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21031	2.06;2.03;2.07;2.06	5.98	5.98	0.97165	.	0.107759	0.64402	D	0.000005	T	0.34861	0.0912	L	0.27053	0.805	0.46044	D	0.998837	D	0.63046	0.992	P	0.62298	0.9	T	0.03296	-1.1051	10	0.66056	D	0.02	-19.4708	20.4561	0.99145	0.0:0.0:1.0:0.0	.	1527	C9JQL1	.	R	1328;1505;1527;1505;1527	ENSP00000256339:G1328R;ENSP00000450868:G1505R;ENSP00000451360:G1527R;ENSP00000376858:G1505R	ENSP00000256339:G1328R	G	+	1	0	KIAA1409	93157845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.808000	0.69165	2.847000	0.97988	0.591000	0.81541	GGG		0.438	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395		33	64	0	0	0	0.059317	0	33	64		
ZNF839	55778	broad.mit.edu	37	14	102808061	102808061	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr14:102808061G>A	ENST00000558850.1	+	8	2331	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	AL137229.1_ENST00000577622.1_RNA|ZNF839_ENST00000559185.1_Missense_Mutation_p.D661N|ZNF839_ENST00000420933.2_3'UTR|ZNF839_ENST00000442396.2_Missense_Mutation_p.D777N|ZNF839_ENST00000262236.5_Missense_Mutation_p.D663N	NM_001267827.1	NP_001254756.1	A8K0R7	ZN839_HUMAN	zinc finger protein 839	661							metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAAGGTTTGTGACTTCCACCT	0.622																																						uc001ylo.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1981-1983)GAC>AAC		zinc finger protein 839							42.0	48.0	46.0					14																	102808061		2062	4214	6276	SO:0001583	missense	55778					intracellular	zinc ion binding	g.chr14:102808061G>A	AK093342	CCDS45164.1, CCDS58336.1	14q32.32	2010-05-06	2008-06-23	2008-06-23	ENSG00000022976	ENSG00000022976			20345	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 131"""	C14orf131			Standard	NM_018335		Approved		uc010awk.2	A8K0R7		ENST00000558850.1:c.1981G>A	14.37:g.102808061G>A	ENSP00000453363:p.Asp661Asn					ZNF839_uc010awk.1_Missense_Mutation_p.D777N|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Missense_Mutation_p.D586N|ZNF839_uc001yls.2_Missense_Mutation_p.D278N|ZNF839_uc001ylt.2_Missense_Mutation_p.D251N	p.D661N	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN			8	2331	+			661					B3KSD2|Q53FH5|Q6GPI5|Q86TU1|Q9BQ86|Q9NUU3	Missense_Mutation	SNP	ENST00000558850.1	37	c.1981G>A	CCDS58336.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.978311	0.53720	.	.	ENSG00000022976	ENST00000442396;ENST00000262236;ENST00000398436;ENST00000420933	T;T	0.19250	2.16;2.16	4.24	1.13	0.20643	.	1.598870	0.03701	N	0.248589	T	0.17874	0.0429	L	0.47716	1.5	0.09310	N	1	P;P;P	0.41910	0.615;0.764;0.764	B;B;B	0.34038	0.174;0.122;0.174	T	0.27365	-1.0076	10	0.62326	D	0.03	.	5.2002	0.15260	0.211:0.1837:0.6053:0.0	.	777;663;661	A8K0R7-5;A8K0R7-2;A8K0R7	.;.;ZN839_HUMAN	N	777;663;329;195	ENSP00000399863:D777N;ENSP00000262236:D663N	ENSP00000262236:D663N	D	+	1	0	ZNF839	101877814	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.070000	0.11523	0.312000	0.23038	0.514000	0.50259	GAC		0.622	ZNF839-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415492.2		NM_018335		9	120	0	0	0	0.047766	0	9	120		
DUOX2	50506	broad.mit.edu	37	15	45403752	45403752	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:45403752C>T	ENST00000603300.1	-	6	747	c.545G>A	c.(544-546)aGc>aAc	p.S182N	DUOX2_ENST00000389039.6_Missense_Mutation_p.S182N|DUOXA2_ENST00000323030.5_5'Flank	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	182	Peroxidase-like; mediates peroxidase activity. {ECO:0000250}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		ATAGATGGCGCTGCCGTCCAG	0.766																																						uc010bea.2		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(544-546)AGC>AAC		dual oxidase 2 precursor							4.0	4.0	4.0					15																	45403752		1891	3799	5690	SO:0001583	missense	50506				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	g.chr15:45403752C>T	AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.545G>A	15.37:g.45403752C>T	ENSP00000475084:p.Ser182Asn					DUOX2_uc001zun.2_Missense_Mutation_p.S182N|DUOXA2_uc001zuo.2_5'Flank|DUOXA2_uc010beb.2_5'Flank	p.S182N	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)	6	748	-		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	182			Extracellular (Potential).|Peroxidase-like; mediates peroxidase activity (By similarity).		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Missense_Mutation	SNP	ENST00000603300.1	37	c.545G>A	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	.	35	5.547081	0.96488	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.86066	0.5844	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.89503	0.3765	9	0.72032	D	0.01	-25.5214	17.6166	0.88069	0.0:1.0:0.0:0.0	.	182	Q9NRD8	DUOX2_HUMAN	N	182	.	ENSP00000373691:S182N	S	-	2	0	DUOX2	43191044	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.550000	0.82173	2.424000	0.82194	0.561000	0.74099	AGC		0.766	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080		4	9	0	0	0	0.009096	0	4	9		
DAPK2	23604	broad.mit.edu	37	15	64275760	64275760	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:64275760G>T	ENST00000457488.1	-	3	316	c.286C>A	c.(286-288)Cgc>Agc	p.R96S	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000261891.3_Missense_Mutation_p.R96S|DAPK2_ENST00000558069.1_Missense_Mutation_p.R96S	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	96	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		ACGTCGGTGCGGTTCTCATAG	0.652																																						uc002amr.2		NaN																	0				stomach(1)|central_nervous_system(1)	2						c.(286-288)CGC>AGC		death-associated kinase 2							69.0	66.0	67.0					15																	64275760		2203	4300	6503	SO:0001583	missense	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64275760G>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.286C>A	15.37:g.64275760G>T	ENSP00000408277:p.Arg96Ser					DAPK2_uc010uim.1_Intron|DAPK2_uc010bgu.1_Missense_Mutation_p.R86S	p.R96S	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	3	317	-			96			Protein kinase.		E9JGM7|O75892|Q24JS1	Missense_Mutation	SNP	ENST00000457488.1	37	c.286C>A	CCDS10188.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716640	0.48622	.	.	ENSG00000035664	ENST00000261891;ENST00000457488	T;T	0.38722	1.12;1.12	5.36	5.36	0.76844	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.215850	0.26193	N	0.025794	T	0.27866	0.0686	N	0.12422	0.21	0.52099	D	0.999946	B;B	0.22080	0.064;0.036	B;B	0.26202	0.067;0.028	T	0.10382	-1.0632	10	0.59425	D	0.04	.	11.863	0.52478	0.0:0.0:0.7224:0.2776	.	96;96	E9JGM7;Q9UIK4	.;DAPK2_HUMAN	S	96	ENSP00000261891:R96S;ENSP00000408277:R96S	ENSP00000261891:R96S	R	-	1	0	DAPK2	62062813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.998000	0.57024	2.508000	0.84585	0.561000	0.74099	CGC		0.652	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1		NM_014326		37	66	1	0	1.52319e-26	0.033182	1.69681e-26	37	66		
CELF6	60677	broad.mit.edu	37	15	72608188	72608188	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:72608188C>T	ENST00000569547.1	-	2	414	c.343G>A	c.(343-345)Ggg>Agg	p.G115R	CELF6_ENST00000567083.1_Missense_Mutation_p.G115R|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.G115R|CELF6_ENST00000539635.1_5'UTR			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	115	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GGACTTACCCCTGGCAGGGTC	0.642																																						uc002auh.2		NaN																	0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(343-345)GGG>AGG		bruno-like 6, RNA binding protein							37.0	34.0	35.0					15																	72608188		2199	4297	6496	SO:0001583	missense	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72608188C>T	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.343G>A	15.37:g.72608188C>T	ENSP00000454749:p.Gly115Arg					uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010ukm.1_Missense_Mutation_p.G115R|CELF6_uc002aui.2_Missense_Mutation_p.R237K|CELF6_uc002auj.2_5'UTR	p.G115R	NM_052840	NP_443072	Q96J87	CELF6_HUMAN			2	653	-			115			RRM 1.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	ENST00000569547.1	37	c.343G>A	CCDS10242.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408958	0.96072	.	.	ENSG00000140488	ENST00000287202;ENST00000437872	T	0.22743	1.94	5.95	5.95	0.96441	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.45126	U	0.000398	T	0.56499	0.1989	M	0.89601	3.045	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.973;0.977	T	0.63470	-0.6630	10	0.87932	D	0	-9.9794	18.957	0.92662	0.0:1.0:0.0:0.0	.	115;115	B4DJB6;Q96J87	.;CELF6_HUMAN	R	115	ENSP00000287202:G115R	ENSP00000287202:G115R	G	-	1	0	CELF6	70395242	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.405000	0.80007	2.824000	0.97209	0.655000	0.94253	GGG		0.642	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1		NM_052840		3	9	0	0	0	0.004672	0	3	9		
OR4F6	390648	broad.mit.edu	37	15	102346616	102346616	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr15:102346616G>C	ENST00000328882.4	+	1	715	c.694G>C	c.(694-696)Ggt>Cgt	p.G232R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			ATCTTCAGGTGGTATATTCAA	0.353																																						uc010utr.1		NaN																	0				ovary(1)	1						c.(694-696)GGT>CGT		olfactory receptor, family 4, subfamily F,							152.0	150.0	151.0					15																	102346616		2202	4300	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346616G>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.694G>C	15.37:g.102346616G>C	ENSP00000327525:p.Gly232Arg						p.G232R	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	694	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		232			Cytoplasmic (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.694G>C	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	6.311	0.425571	0.11987	.	.	ENSG00000184140	ENST00000328882	T	0.00295	8.25	4.78	-2.4	0.06583	GPCR, rhodopsin-like superfamily (1);	0.377447	0.21994	N	0.066102	T	0.00328	0.0010	M	0.83483	2.645	0.09310	N	1	B	0.22003	0.063	B	0.32724	0.151	T	0.37502	-0.9703	10	0.59425	D	0.04	.	10.3075	0.43689	0.4441:0.0:0.5559:0.0	.	232	Q8NGB9	OR4F6_HUMAN	R	232	ENSP00000327525:G232R	ENSP00000327525:G232R	G	+	1	0	OR4F6	100164139	0.008000	0.16893	0.000000	0.03702	0.058000	0.15608	0.880000	0.28159	-0.556000	0.06134	0.591000	0.81541	GGT		0.353	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1				54	115	0	0	0	0.048971	0	54	115		
MSLN	10232	broad.mit.edu	37	16	813678	813678	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:813678C>G	ENST00000382862.3	+	4	261	c.166C>G	c.(166-168)Cct>Gct	p.P56A	MSLN_ENST00000545450.2_Missense_Mutation_p.P56A|MSLN_ENST00000563941.1_Missense_Mutation_p.P56A|MSLN_ENST00000566549.1_Missense_Mutation_p.P56A	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	56				ANPP -> TTPH (in Ref. 2; AAC50348). {ECO:0000305}.	cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCCAACCCACCTAACATTTC	0.662																																						uc002cjw.1		NaN																	0				pancreas(1)	1						c.(166-168)CCT>GCT		mesothelin isoform 2 preproprotein							36.0	34.0	35.0					16																	813678		2195	4294	6489	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:813678C>G	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.166C>G	16.37:g.813678C>G	ENSP00000372313:p.Pro56Ala					MSLN_uc002cjt.1_Missense_Mutation_p.P56A|MSLN_uc002cju.1_Missense_Mutation_p.P56A|MSLN_uc010brd.1_Missense_Mutation_p.P55A|MSLN_uc002cjv.1_Missense_Mutation_p.P56A|MSLN_uc002cjx.1_Missense_Mutation_p.P56A|MSLN_uc002cjy.1_5'Flank	p.P56A	NM_013404	NP_037536	Q13421	MSLN_HUMAN			4	217	+		Hepatocellular(780;0.00335)	56	ANPP -> TTPH (in Ref. 2; AAC50348).				D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.166C>G	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	C	0.195	-1.049703	0.01981	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.10099	2.91;2.91	1.58	-3.16	0.05217	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.001;0.002	B;B;B;B	0.12837	0.005;0.008;0.001;0.005	T	0.38499	-0.9658	9	0.28530	T	0.3	.	0.6971	0.00901	0.1904:0.3494:0.2082:0.252	.	55;56;56;56	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	A	56	ENSP00000442965:P56A;ENSP00000372313:P56A	ENSP00000372313:P56A	P	+	1	0	MSLN	753679	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.099000	0.01346	-1.779000	0.01280	-0.658000	0.03865	CCT		0.662	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2				14	12	0	0	0	0.020292	0	14	12		
RNPS1	10921	broad.mit.edu	37	16	2305696	2305696	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:2305696G>A	ENST00000565678.1	-	7	1253	c.708C>T	c.(706-708)acC>acT	p.T236T	RNPS1_ENST00000568631.1_Silent_p.T236T|RNPS1_ENST00000566397.1_Silent_p.T59T|AC009065.1_ENST00000454671.1_Silent_p.A146A|RNPS1_ENST00000397086.2_Silent_p.T236T|RNPS1_ENST00000561718.1_Silent_p.T59T|RNPS1_ENST00000320225.5_Silent_p.T236T|RNPS1_ENST00000569598.2_Silent_p.T142T|RNPS1_ENST00000567147.1_Intron|RNPS1_ENST00000566458.1_Silent_p.T213T|RNPS1_ENST00000301730.8_Silent_p.T236T			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	236	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						CCAGCACGGCGGTGGCAGTGA	0.562																																						uc002cpt.2		NaN																	0				ovary(1)	1						c.(706-708)ACC>ACT		RNA-binding protein S1, serine-rich domain							26.0	29.0	28.0					16																	2305696		2197	4299	6496	SO:0001819	synonymous_variant	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2305696G>A	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.708C>T	16.37:g.2305696G>A						RNPS1_uc002cpu.2_Silent_p.T236T|RNPS1_uc002cpv.2_Silent_p.T59T|RNPS1_uc002cpw.2_Silent_p.T236T|RNPS1_uc002cpx.2_Silent_p.T213T|RNPS1_uc010uwa.1_RNA	p.T236T	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			7	1254	-			236			Necessary for interaction with PNN and exon-skipping.|RRM.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Silent	SNP	ENST00000565678.1	37	c.708C>T	CCDS10465.1																																																																																				0.562	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1		NM_080594		20	36	0	0	0	0.043863	0	20	36		
SMG1	23049	broad.mit.edu	37	16	18849753	18849753	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:18849753G>A	ENST00000446231.2	-	44	7532	c.7120C>T	c.(7120-7122)Cga>Tga	p.R2374*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.R2374*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2374	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTGTCATTCGAAAAGGTACT	0.373																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(7120-7122)CGA>TGA		PI-3-kinase-related kinase SMG-1							192.0	174.0	180.0					16																	18849753		1858	4104	5962	SO:0001587	stop_gained	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18849753G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7120C>T	16.37:g.18849753G>A	ENSP00000402515:p.Arg2374*					SMG1_uc010bwb.2_Nonsense_Mutation_p.R2234*|SMG1_uc010bwa.2_Nonsense_Mutation_p.R1105*	p.R2374*	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			44	7483	-			2374			PI3K/PI4K.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	ENST00000446231.2	37	c.7120C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	49	15.401098	0.99832	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.87	4.86	0.63082	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.165	0.81747	0.0:0.0:0.8661:0.1338	.	.	.	.	X	2374	.	ENSP00000374118:R2374X	R	-	1	2	SMG1	18757254	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.287000	0.65645	2.941000	0.99782	0.655000	0.94253	CGA		0.373	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		7	76	0	0	0	0.02938	0	7	76		
NFATC2IP	84901	broad.mit.edu	37	16	28965901	28965901	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:28965901A>T	ENST00000320805.4	+	3	551	c.476A>T	c.(475-477)gAt>gTt	p.D159V	NFATC2IP_ENST00000564978.1_Intron|RP11-264B17.2_ENST00000568057.1_RNA|RP11-264B17.2_ENST00000569974.1_RNA|NFATC2IP_ENST00000562977.1_Intron	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	159					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						GAGCTGGCAGATTCGAGTGGT	0.522																																						uc002dru.2		NaN																	0				ovary(1)	1						c.(475-477)GAT>GTT		nuclear factor of activated T-cells,							123.0	125.0	125.0					16																	28965901		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28965901A>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.476A>T	16.37:g.28965901A>T	ENSP00000324792:p.Asp159Val					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Intron	p.D159V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			3	491	+			159					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.476A>T	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	A	15.09	2.731440	0.48939	.	.	ENSG00000176953	ENST00000320805	T	0.28454	1.61	4.17	4.17	0.49024	.	0.781295	0.11759	N	0.532312	T	0.34077	0.0885	M	0.63428	1.95	0.36731	D	0.881739	P	0.50943	0.94	P	0.46144	0.505	T	0.23084	-1.0198	10	0.17369	T	0.5	-3.9879	9.7996	0.40755	1.0:0.0:0.0:0.0	.	159	Q8NCF5	NF2IP_HUMAN	V	159	ENSP00000324792:D159V	ENSP00000324792:D159V	D	+	2	0	NFATC2IP	28873402	0.514000	0.26202	0.022000	0.16811	0.005000	0.04900	3.834000	0.55798	1.877000	0.54381	0.459000	0.35465	GAT		0.522	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2		NM_032815		89	149	0	0	0	0.048971	0	89	149		
IRX3	79191	broad.mit.edu	37	16	54319028	54319028	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:54319028A>G	ENST00000329734.3	-	2	1477	c.765T>C	c.(763-765)gaT>gaC	p.D255D		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	255	Asp/Glu-rich (acidic).				mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						AGTTCTCCAAATCGATctcct	0.682																																					GBM(143;1830 1866 4487 4646 37383)	uc002eht.1		NaN																	0					0						c.(763-765)GAT>GAC		iroquois homeobox 3							47.0	33.0	38.0					16																	54319028		2196	4300	6496	SO:0001819	synonymous_variant	79191				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:54319028A>G	U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.765T>C	16.37:g.54319028A>G							p.D255D	NM_024336	NP_077312	P78415	IRX3_HUMAN			2	1181	-			255			Asp/Glu-rich (acidic).		Q7Z4A4|Q7Z4A5|Q8IVC6	Silent	SNP	ENST00000329734.3	37	c.765T>C	CCDS10750.1																																																																																				0.682	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2				18	23	0	0	0	0.0333	0	18	23		
MMP2	4313	broad.mit.edu	37	16	55525777	55525777	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:55525777A>G	ENST00000219070.4	+	8	1754	c.1245A>G	c.(1243-1245)caA>caG	p.Q415Q	MMP2_ENST00000437642.2_Silent_p.Q365Q|MMP2_ENST00000570308.1_Silent_p.Q339Q|MMP2_ENST00000543485.1_Silent_p.Q339Q	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	AGCACTCCCAAGACCCTGGGG	0.577																																						uc002ehz.3		NaN																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1243-1245)CAA>CAG		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						65.0	63.0	64.0					16																	55525777		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525777A>G		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1245A>G	16.37:g.55525777A>G						MMP2_uc010vhd.1_Silent_p.Q339Q|MMP2_uc010ccc.2_Silent_p.Q365Q|MMP2_uc002eia.3_5'Flank	p.Q415Q	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1556	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	415			Required for inhibitor TIMP2 binding.|Collagenase-like 2.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1245A>G	CCDS10752.1																																																																																				0.577	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3				41	75	0	0	0	0.025465	0	41	75		
KARS	3735	broad.mit.edu	37	16	75665679	75665679	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr16:75665679C>T	ENST00000302445.3	-	8	1029	c.990G>A	c.(988-990)acG>acA	p.T330T	KARS_ENST00000319410.5_Silent_p.T358T|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	330					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CAGGATTGTGCGTCAAATCAA	0.493																																						uc002feq.2		NaN																	0				ovary(2)	2						c.(988-990)ACG>ACA		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						238.0	211.0	220.0					16																	75665679		2198	4300	6498	SO:0001819	synonymous_variant	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665679C>T	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.990G>A	16.37:g.75665679C>T						KARS_uc002fer.2_Silent_p.T358T|KARS_uc002fes.2_Silent_p.T174T	p.T330T	NM_005548	NP_005539	Q15046	SYK_HUMAN			8	1038	-			330					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	c.990G>A	CCDS10923.1																																																																																				0.493	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1		NM_005548		87	135	0	0	0	0.048971	0	87	135		
OR1A2	26189	broad.mit.edu	37	17	3101305	3101305	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:3101305A>G	ENST00000381951.1	+	1	493	c.493A>G	c.(493-495)Agt>Ggt	p.S165G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	165					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						GCTCACAGCTAGTTTGTCCTT	0.458																																						uc002fvd.1		NaN																	0				skin(2)	2						c.(493-495)AGT>GGT		olfactory receptor, family 1, subfamily A,							137.0	117.0	124.0					17																	3101305		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101305A>G	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.493A>G	17.37:g.3101305A>G	ENSP00000371377:p.Ser165Gly						p.S165G	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			1	493	+			165			Extracellular (Potential).		Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.493A>G	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	A	11.38	1.621060	0.28889	.	.	ENSG00000172150	ENST00000381951	T	0.00227	8.5	4.05	-3.33	0.04958	GPCR, rhodopsin-like superfamily (1);	1.254920	0.05239	N	0.511880	T	0.00144	0.0004	L	0.28694	0.88	0.09310	N	1	B	0.14805	0.011	B	0.16289	0.015	T	0.29305	-1.0016	10	0.87932	D	0	.	2.1637	0.03832	0.3661:0.3543:0.1632:0.1164	.	165	Q9Y585	OR1A2_HUMAN	G	165	ENSP00000371377:S165G	ENSP00000371377:S165G	S	+	1	0	OR1A2	3048055	0.000000	0.05858	0.492000	0.27490	0.938000	0.57974	-2.316000	0.01123	-0.384000	0.07845	0.486000	0.48141	AGT		0.458	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1		NM_012352		49	73	0	0	0	0.048971	0	49	73		
GPR179	440435	broad.mit.edu	37	17	36486976	36486976	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:36486976C>G	ENST00000342292.4	-	11	2496	c.2476G>C	c.(2476-2478)Gga>Cga	p.G826R	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	826					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGCCTCTCTCCCACCGTCAGG	0.667																																						uc002hpz.2		NaN																	0				ovary(3)	3						c.(2476-2478)GGA>CGA		GPR158-like 1 precursor							9.0	11.0	11.0					17																	36486976		1861	4009	5870	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36486976C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.2476G>C	17.37:g.36486976C>G	ENSP00000345060:p.Gly826Arg						p.G826R	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			11	2497	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	826			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.2476G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.934886	0.52866	.	.	ENSG00000188888	ENST00000342292	T	0.55234	0.53	5.3	2.16	0.27623	.	0.276735	0.29307	N	0.012530	T	0.39784	0.1091	L	0.44542	1.39	0.19300	N	0.999974	B	0.25048	0.117	B	0.24155	0.051	T	0.24261	-1.0165	10	0.36615	T	0.2	-0.9159	7.5176	0.27610	0.1349:0.7156:0.0:0.1495	.	826	Q6PRD1	GP179_HUMAN	R	826	ENSP00000345060:G826R	ENSP00000345060:G826R	G	-	1	0	GPR179	33740502	0.012000	0.17670	0.104000	0.21259	0.822000	0.46500	0.507000	0.22675	0.796000	0.33947	0.655000	0.94253	GGA		0.667	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2				10	17	0	0	0	0.008291	0	10	17		
ASB16	92591	broad.mit.edu	37	17	42254079	42254079	+	Intron	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:42254079C>T	ENST00000293414.1	+	3	653				ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGGATTTTCCTCAGGACCTT	0.602																																						uc002ifn.2		NaN																	0					0						c.(541-543)AGG>AAG		hypothetical protein LOC339201							123.0	117.0	119.0					17																	42254079		2203	4300	6503	SO:0001627	intron_variant	339201							g.chr17:42254079C>T	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.570-27C>T	17.37:g.42254079C>T						ASB16_uc002ifl.1_Intron|ASB16_uc002ifm.1_Intron	p.R181K	NM_178542	NP_848637	Q495Z4	CQ065_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.114)	4	1518	-		Breast(137;0.00765)|Prostate(33;0.0313)	181					B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	c.542G>A	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	C	9.930	1.214668	0.22289	.	.	ENSG00000168597	ENST00000303061	.	.	.	3.4	2.4	0.29515	.	.	.	.	.	T	0.23171	0.0560	N	0.08118	0	0.21445	N	0.999686	B	0.22146	0.065	B	0.17098	0.017	T	0.21211	-1.0252	8	0.87932	D	0	.	8.9838	0.35980	0.0:0.8874:0.0:0.1126	.	181	Q495Z4	CQ065_HUMAN	K	181	.	ENSP00000366342:R181K	R	-	2	0	C17orf65	39609605	0.001000	0.12720	0.009000	0.14445	0.005000	0.04900	1.000000	0.29770	0.991000	0.38814	0.455000	0.32223	AGG		0.602	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1				71	142	0	0	0	0.048971	0	71	142		
KAT7	11143	broad.mit.edu	37	17	47874209	47874209	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:47874209G>A	ENST00000259021.4	+	3	541	c.261G>A	c.(259-261)gtG>gtA	p.V87V	KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Silent_p.V87V|KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000424009.2_Silent_p.V87V|KAT7_ENST00000510819.1_Intron	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	87					chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CTACCCCAGTGACACCGAAAA	0.488																																						uc002ipm.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(259-261)GTG>GTA		MYST histone acetyltransferase 2							161.0	161.0	161.0					17																	47874209		2203	4300	6503	SO:0001819	synonymous_variant	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47874209G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.261G>A	17.37:g.47874209G>A						MYST2_uc002ipl.1_Silent_p.V87V|MYST2_uc010wma.1_Intron|MYST2_uc010wmb.1_Silent_p.V87V|MYST2_uc010wmc.1_Intron|MYST2_uc010wmd.1_5'UTR|MYST2_uc010wme.1_5'UTR	p.V87V	NM_007067	NP_008998	O95251	MYST2_HUMAN			3	387	+			87					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Silent	SNP	ENST00000259021.4	37	c.261G>A	CCDS11554.1																																																																																				0.488	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1		NM_007067		23	263	0	0	0	0.030593	0	23	263		
AKAP1	8165	broad.mit.edu	37	17	55183204	55183204	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:55183204G>A	ENST00000337714.3	+	2	612	c.379G>A	c.(379-381)Gac>Aac	p.D127N	AKAP1_ENST00000571629.1_Missense_Mutation_p.D127N|AKAP1_ENST00000539273.1_Missense_Mutation_p.D127N|AKAP1_ENST00000572557.1_Missense_Mutation_p.D127N|AKAP1_ENST00000314126.3_Missense_Mutation_p.D127N	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	127					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					ACGCAGAGATGACAGTACAAA	0.522																																						uc002iux.2		NaN																	0				ovary(1)	1						c.(379-381)GAC>AAC		A-kinase anchor protein 1 precursor							121.0	108.0	112.0					17																	55183204		2203	4300	6503	SO:0001583	missense	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183204G>A	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.379G>A	17.37:g.55183204G>A	ENSP00000337736:p.Asp127Asn					AKAP1_uc010wnl.1_Missense_Mutation_p.D127N|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Missense_Mutation_p.D127N	p.D127N	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	610	+	Breast(9;5.46e-08)		127					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Missense_Mutation	SNP	ENST00000337714.3	37	c.379G>A	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822213	0.32237	.	.	ENSG00000121057	ENST00000337714;ENST00000314126;ENST00000427138;ENST00000539273	T;T;T	0.19806	2.12;2.12;2.12	5.78	2.74	0.32292	.	0.469787	0.24467	N	0.038276	T	0.23133	0.0559	M	0.64997	1.995	0.09310	N	1	B	0.19583	0.037	B	0.17098	0.017	T	0.16041	-1.0416	10	0.48119	T	0.1	-11.7619	12.7424	0.57261	0.1455:0.0:0.8545:0.0	.	127	Q92667	AKAP1_HUMAN	N	127;127;169;127	ENSP00000337736:D127N;ENSP00000314075:D127N;ENSP00000443139:D127N	ENSP00000314075:D127N	D	+	1	0	AKAP1	52538203	0.606000	0.26949	0.003000	0.11579	0.001000	0.01503	1.212000	0.32394	0.369000	0.24510	-0.907000	0.02831	GAC		0.522	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1				32	47	0	0	0	0.045705	0	32	47		
C17orf47	284083	broad.mit.edu	37	17	56619289	56619289	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:56619289G>A	ENST00000321691.3	-	2	1781	c.1600C>T	c.(1600-1602)Cta>Tta	p.L534L	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	534										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGACCTTTTAGCCACCAGATG	0.507																																						uc002iwq.1		NaN																	0				breast(1)	1						c.(1600-1602)CTA>TTA		hypothetical protein LOC284083							139.0	122.0	128.0					17																	56619289		2203	4300	6503	SO:0001819	synonymous_variant	284083							g.chr17:56619289G>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1600C>T	17.37:g.56619289G>A						SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.L534L	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			2	1736	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		534					Q8N821	Silent	SNP	ENST00000321691.3	37	c.1600C>T	CCDS32691.1																																																																																				0.507	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704		41	74	0	0	0	0.023175	0	41	74		
SLC16A5	9121	broad.mit.edu	37	17	73100105	73100105	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr17:73100105C>T	ENST00000450736.2	+	5	1609	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	SLC16A5_ENST00000538213.2_Silent_p.F438F|SLC16A5_ENST00000580123.1_Silent_p.F398F|SLC16A5_ENST00000329783.4_Silent_p.F398F			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	398					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GCTATGTTTTCTACATGTCCA	0.567																																						uc002jmr.2		NaN																	0				central_nervous_system(1)	1						c.(1192-1194)TTC>TTT		solute carrier family 16, member 5	Pyruvic acid(DB00119)						151.0	139.0	143.0					17																	73100105		2203	4300	6503	SO:0001819	synonymous_variant	9121				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr17:73100105C>T	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1194C>T	17.37:g.73100105C>T						SLC16A5_uc002jms.1_Silent_p.F398F|SLC16A5_uc002jmt.2_Silent_p.F398F|SLC16A5_uc002jmu.2_Silent_p.F398F|SLC16A5_uc010wrt.1_Silent_p.F438F	p.F398F	NM_004695	NP_004686	O15375	MOT6_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		6	1566	+	all_lung(278;0.226)		398			Helical; (Potential).		B4E288	Silent	SNP	ENST00000450736.2	37	c.1194C>T	CCDS11713.1																																																																																				0.567	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445547.1		NM_004695		13	117	0	0	0	0.024245	0	13	117		
ONECUT2	9480	broad.mit.edu	37	18	55103602	55103602	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:55103602C>A	ENST00000491143.2	+	1	686	c.654C>A	c.(652-654)ccC>ccA	p.P218P	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	218					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	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(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AGGAGATGCCCGGCATGAGCC	0.687																																						uc002lgo.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(652-654)CCC>CCA		one cut domain, family member 2							19.0	23.0	21.0					18																	55103602		2053	4207	6260	SO:0001819	synonymous_variant	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103602C>A	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.654C>A	18.37:g.55103602C>A							p.P218P	NM_004852	NP_004843	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	686	+		Colorectal(73;0.234)	218						Silent	SNP	ENST00000491143.2	37	c.654C>A	CCDS42440.1																																																																																				0.687	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3				20	29	1	0	0.00741294	0.043863	0.00751784	20	29		
SBNO2	22904	broad.mit.edu	37	19	1110743	1110743	+	Splice_Site	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:1110743C>A	ENST00000361757.3	-	26	3266		c.e26+1		SBNO2_ENST00000438103.2_Splice_Site|SBNO2_ENST00000587024.1_Splice_Site	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)						bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGCTCACCCAGGATGCC	0.637																																						uc002lrk.3		NaN																	0					0						c.e26+1		strawberry notch homolog 2 isoform 1							114.0	118.0	116.0					19																	1110743		2087	4201	6288	SO:0001630	splice_region_variant	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1110743C>A	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.3028+1G>T	19.37:g.1110743C>A						SBNO2_uc002lri.3_5'Flank|SBNO2_uc002lrj.3_Splice_Site_p.D953_splice|SBNO2_uc010dse.2_Splice_Site_p.D993_splice|SBNO2_uc010xgj.1_Intron	p.D1010_splice	NM_014963	NP_055778	Q9Y2G9	SBNO2_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)	26	3266	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)						A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Splice_Site	SNP	ENST00000361757.3	37	c.3028_splice	CCDS45894.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.78|18.78	3.697753|3.697753	0.68386|0.68386	.|.	.|.	ENSG00000064932|ENSG00000064932	ENST00000361757;ENST00000438103|ENST00000250872	.|.	.|.	.|.	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72078	.|0.3416	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72121	.|-0.4386	.|5	.|0.39692	.|T	.|0.17	.|.	16.5936|16.5936	0.84789|0.84789	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|V	-1|1017	.|.	.|ENSP00000250872:G1017V	.|G	-|-	.|2	.|0	SBNO2|SBNO2	1061743|1061743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.558000|0.558000	0.35554|0.35554	7.588000|7.588000	0.82629|0.82629	2.168000|2.168000	0.68352|0.68352	0.511000|0.511000	0.50034|0.50034	.|GGT		0.637	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2		NM_014963	Intron	52	85	1	0	1.11015e-26	0.048971	1.24314e-26	52	85		
ATCAY	85300	broad.mit.edu	37	19	3905458	3905458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:3905458G>T	ENST00000450849.2	+	4	630	c.163G>T	c.(163-165)Gga>Tga	p.G55*	ATCAY_ENST00000398448.3_Nonsense_Mutation_p.G61*|ATCAY_ENST00000600960.1_Nonsense_Mutation_p.G55*|ATCAY_ENST00000301260.6_Nonsense_Mutation_p.G55*	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	55					apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AAATTTCAACGGAGCGCATCG	0.498																																						uc002lyy.3		NaN																	0				breast(1)	1						c.(163-165)GGA>TGA		caytaxin							47.0	48.0	48.0					19																	3905458		1948	4132	6080	SO:0001587	stop_gained	85300				transport		protein binding	g.chr19:3905458G>T		CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.163G>T	19.37:g.3905458G>T	ENSP00000390941:p.Gly55*					ATCAY_uc010xhz.1_Nonsense_Mutation_p.G61*	p.G55*	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)	4	593	+		Hepatocellular(1079;0.137)	55					Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Nonsense_Mutation	SNP	ENST00000450849.2	37	c.163G>T	CCDS45923.1	.	.	.	.	.	.	.	.	.	.	G	35	5.569075	0.96540	.	.	ENSG00000167654	ENST00000450849;ENST00000301260;ENST00000357694;ENST00000398448;ENST00000539301	.	.	.	4.8	4.8	0.61643	.	0.706089	0.13926	N	0.353244	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-6.4114	12.0316	0.53401	0.0:0.0:0.8275:0.1725	.	.	.	.	X	55;55;55;61;33	.	ENSP00000301260:G55X	G	+	1	0	ATCAY	3856458	0.992000	0.36948	0.093000	0.20910	0.030000	0.12068	2.872000	0.48467	2.210000	0.71456	0.549000	0.68633	GGA		0.498	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457872.2				22	23	1	0	4.35082e-09	0.055883	4.56305e-09	22	23		
COL5A3	50509	broad.mit.edu	37	19	10089574	10089574	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10089574C>T	ENST00000264828.3	-	40	3042	c.2957G>A	c.(2956-2958)gGg>gAg	p.G986E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	986	Collagen-like 5.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CACCGGGTCCCCAGGGCCCCC	0.622																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(2956-2958)GGG>GAG		collagen, type V, alpha 3 preproprotein							11.0	12.0	12.0					19																	10089574		2177	4278	6455	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10089574C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2957G>A	19.37:g.10089574C>T	ENSP00000264828:p.Gly986Glu						p.G986E	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		40	3043	-			986			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.2957G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	c	15.11	2.737159	0.49045	.	.	ENSG00000080573	ENST00000264828	D	0.99619	-6.28	4.58	4.58	0.56647	.	0.072820	0.53938	U	0.000044	D	0.99813	0.9918	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96610	0.9451	10	0.87932	D	0	.	14.8863	0.70572	0.0:1.0:0.0:0.0	.	986	P25940	CO5A3_HUMAN	E	986	ENSP00000264828:G986E	ENSP00000264828:G986E	G	-	2	0	COL5A3	9950574	1.000000	0.71417	0.341000	0.25589	0.019000	0.09904	6.754000	0.74909	2.101000	0.63845	0.450000	0.29827	GGG		0.622	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		11	16	0	0	0	0.010729	0	11	16		
ATG4D	84971	broad.mit.edu	37	19	10663675	10663675	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:10663675C>T	ENST00000309469.4	+	10	1530	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA|ATG4D_ENST00000540862.1_Missense_Mutation_p.R120W	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	453					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCCCACACTCCGGCTCCCTCG	0.617																																						uc002mov.2		NaN																	0					0						c.(1357-1359)CGG>TGG		APG4 autophagy 4 homolog D							52.0	50.0	51.0					19																	10663675		2203	4300	6503	SO:0001583	missense	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10663675C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.1357C>T	19.37:g.10663675C>T	ENSP00000311318:p.Arg453Trp					ATG4D_uc010xlh.1_Missense_Mutation_p.R390W|ATG4D_uc010dxh.2_RNA|ATG4D_uc010dxi.2_RNA|ATG4D_uc010dxj.2_Missense_Mutation_p.R120W	p.R453W	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		10	1477	+			453					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1357C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567601	0.45694	.	.	ENSG00000130734	ENST00000309469;ENST00000540862	.	.	.	5.19	4.12	0.48240	.	0.621973	0.16006	N	0.234039	T	0.52468	0.1736	L	0.59436	1.845	0.20196	N	0.999927	D;D	0.71674	0.986;0.998	P;P	0.53146	0.513;0.719	T	0.48592	-0.9022	9	0.66056	D	0.02	-27.6584	14.3617	0.66776	0.1589:0.8411:0.0:0.0	.	390;453	B4DGM8;Q86TL0	.;ATG4D_HUMAN	W	453;120	.	ENSP00000311318:R453W	R	+	1	2	ATG4D	10524675	0.998000	0.40836	0.187000	0.23214	0.156000	0.22039	2.810000	0.47979	1.227000	0.43598	0.655000	0.94253	CGG		0.617	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1		NM_032885		10	83	0	0	0	0.058154	0	10	83		
LPHN1	22859	broad.mit.edu	37	19	14273534	14273534	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:14273534G>C	ENST00000340736.6	-	6	1391	c.1094C>G	c.(1093-1095)cCc>cGc	p.P365R	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Missense_Mutation_p.P360R|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	365	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAACTGGTAGGGGTTGGGGAA	0.587																																						uc010xnn.1		NaN																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(1093-1095)CCC>CGC		latrophilin 1 isoform 1 precursor							178.0	135.0	150.0					19																	14273534		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273534G>C	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1094C>G	19.37:g.14273534G>C	ENSP00000340688:p.Pro365Arg					LPHN1_uc010xno.1_Missense_Mutation_p.P360R|uc002myf.2_Intron	p.P365R	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			6	1390	-			365			Olfactomedin-like.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.1094C>G	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040245	0.35989	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.90261	-2.64;-2.64	4.96	4.96	0.65561	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	N	0.16743	0.435	0.54753	D	0.999988	P;P	0.43231	0.611;0.801	P;P	0.47346	0.511;0.544	D	0.89093	0.3484	10	0.62326	D	0.03	.	15.6767	0.77332	0.0:0.0:1.0:0.0	.	360;365	O94910-2;O94910	.;LPHN1_HUMAN	R	365;360	ENSP00000340688:P365R;ENSP00000355328:P360R	ENSP00000340688:P365R	P	-	2	0	LPHN1	14134534	0.992000	0.36948	1.000000	0.80357	0.852000	0.48524	1.611000	0.36879	2.277000	0.76020	0.561000	0.74099	CCC		0.587	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1		NM_014921		11	147	0	0	0	0.008291	0	11	147		
CYP4F2	8529	broad.mit.edu	37	19	15990419	15990419	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:15990419G>A	ENST00000221700.6	-	11	1404	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S		NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2											NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGCACCTCAGGGTCCGGCCAC	0.557																																						uc002nbs.1		NaN																	0				ovary(1)|skin(1)	2						c.(1309-1311)CCT>TCT		cytochrome P450, family 4, subfamily F,							96.0	105.0	102.0					19																	15990419		2203	4300	6503	SO:0001583	missense	8529				leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	g.chr19:15990419G>A	U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"""Cytochrome P450s"""	2645	protein-coding gene	gene with protein product		604426	"""cytochrome P450, subfamily IVF, polypeptide 2"""			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.1309C>T	19.37:g.15990419G>A	ENSP00000221700:p.Pro437Ser					CYP4F2_uc010xot.1_Missense_Mutation_p.P288S	p.P437S	NM_001082	NP_001073	P78329	CP4F2_HUMAN			11	1359	-			437						Missense_Mutation	SNP	ENST00000221700.6	37	c.1309C>T	CCDS12336.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.633897	0.47049	.	.	ENSG00000186115	ENST00000221700;ENST00000392846	D	0.87256	-2.23	2.78	2.78	0.32641	.	0.000000	0.64402	U	0.000004	D	0.93752	0.8003	H	0.95365	3.66	0.80722	D	1	P	0.36465	0.554	P	0.52554	0.702	D	0.94108	0.7368	10	0.52906	T	0.07	.	11.279	0.49184	0.0:0.0:1.0:0.0	.	437	P78329	CP4F2_HUMAN	S	437;288	ENSP00000221700:P437S	ENSP00000221700:P437S	P	-	1	0	CYP4F2	15851419	1.000000	0.71417	0.995000	0.50966	0.310000	0.27922	6.766000	0.74970	1.528000	0.49103	0.491000	0.48974	CCT		0.557	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460372.3		NM_001082		72	153	0	0	0	0.048971	0	72	153		
CYP4F11	57834	broad.mit.edu	37	19	16035572	16035572	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:16035572C>T	ENST00000402119.4	-	5	1072	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CYP4F11_ENST00000326742.8_Splice_Site_p.E216K|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000248041.8_Splice_Site_p.E216K	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						AGGACTCACTCCTGACAATTG	0.517																																						uc002nbu.2		NaN																	0				ovary(1)	1						c.(646-648)GAG>AAG		cytochrome P450 family 4 subfamily F polypeptide							93.0	86.0	88.0					19																	16035572		2203	4300	6503	SO:0001630	splice_region_variant	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16035572C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.647+1G>A	19.37:g.16035572C>T						CYP4F11_uc010eab.1_Missense_Mutation_p.E216K|CYP4F11_uc002nbt.2_Missense_Mutation_p.E216K	p.E216K	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN			6	682	-			216						Missense_Mutation	SNP	ENST00000402119.4	37	c.646G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.517566	0.27123	.	.	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.79749	-1.3;-1.3;-0.38	2.57	2.57	0.30868	.	0.268777	0.28290	U	0.015888	T	0.78868	0.4351	L	0.48642	1.525	0.35120	D	0.76699	B;P	0.34522	0.036;0.455	B;P	0.44811	0.17;0.461	T	0.83281	-0.0038	10	0.48119	T	0.1	.	10.8988	0.47038	0.0:1.0:0.0:0.0	.	216;216	F8W978;Q9HBI6	.;CP4FB_HUMAN	K	216	ENSP00000384588:E216K;ENSP00000248041:E216K;ENSP00000319859:E216K	ENSP00000248041:E216K	E	-	1	0	CYP4F11	15896572	1.000000	0.71417	0.994000	0.49952	0.509000	0.34042	1.674000	0.37544	1.435000	0.47434	0.298000	0.19748	GAG		0.517	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2		NM_021187	Missense_Mutation	8	97	0	0	0	0.047766	0	8	97		
KMT2B	9757	broad.mit.edu	37	19	36216719	36216719	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:36216719G>A	ENST00000222270.7	+	13	3885	c.3885G>A	c.(3883-3885)tgG>tgA	p.W1295*	KMT2B_ENST00000420124.1_Splice_Site_p.W1295*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1295					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGCGCCACTGGGTGAGAGATG	0.612																																						uc010eei.2		NaN																	0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(3883-3885)TGG>TGA		myeloid/lymphoid or mixed-lineage leukemia 4							17.0	20.0	19.0					19																	36216719		1993	4153	6146	SO:0001630	splice_region_variant	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36216719G>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3885+1G>A	19.37:g.36216719G>A							p.W1295*	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		14	3885	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		1295			PHD-type 2.		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	c.3885G>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	G	42	9.659243	0.99231	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	4.87	4.87	0.63330	.	0.000000	0.42053	D	0.000768	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.308	0.87200	0.0:0.0:1.0:0.0	.	.	.	.	X	1295	.	ENSP00000222270:W1295X	W	+	3	0	AD000671.1	40908559	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.714000	0.74692	2.691000	0.91804	0.655000	0.94253	TGG		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_014727	Nonsense_Mutation	6	0	0	0	0	0.021553	0	6	0		
LILRB2	10288	broad.mit.edu	37	19	54782928	54782929	+	Missense_Mutation	DNP	CC	CC	TT	rs141840014		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:54782928_54782929CC>TT	ENST00000391749.4	-	6	964_965	c.693_694GG>AA	c.(691-696)ccGGgt>ccAAgt	p.G232S	LILRB2_ENST00000391748.1_Missense_Mutation_p.G232S|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.G232S|LILRB2_ENST00000314446.5_Missense_Mutation_p.G232S|LILRB2_ENST00000434421.1_Missense_Mutation_p.G116S	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	232	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGACAGGACCCGGCTGCACTG	0.574																																						uc002qfb.2		NaN																	0				skin(1)	1						c.(691-696)CCGGGT>CCAAGT		leukocyte immunoglobulin-like receptor,																																				SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54782928_54782929CC>TT	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.693_694delinsTT	19.37:g.54782928_54782929delinsTT	ENSP00000375629:p.Gly232Ser					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.G232S|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.G232S|LILRB2_uc010yet.1_Missense_Mutation_p.G116S|LILRB2_uc010yeu.1_Intron	p.G232S	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	959_960	-	Ovarian(34;0.19)		232			Extracellular (Potential).|Ig-like C2-type 3.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	DNP	ENST00000391749.4	37	c.693_694GG>AA	CCDS12886.1																																																																																				0.574	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1				7	133	0	0	0	0.004672	0	7	133		
BRSK1	84446	broad.mit.edu	37	19	55816212	55816212	+	Silent	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr19:55816212C>A	ENST00000309383.1	+	14	1918	c.1641C>A	c.(1639-1641)gcC>gcA	p.A547A	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.A242A|BRSK1_ENST00000590333.1_Silent_p.A563A	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	547					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGGGGGAGCCGCCTGGAGGA	0.701																																						uc002qkg.2		NaN																	0				ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6						c.(1639-1641)GCC>GCA		BR serine/threonine kinase 1							11.0	12.0	11.0					19																	55816212		2177	4243	6420	SO:0001819	synonymous_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55816212C>A	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1641C>A	19.37:g.55816212C>A						BRSK1_uc002qkf.2_Silent_p.A563A|BRSK1_uc002qkh.2_Silent_p.A242A	p.A547A	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	14	1918	+		Renal(1328;0.245)	547					F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	SNP	ENST00000309383.1	37	c.1641C>A	CCDS12921.1																																																																																				0.701	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1		NM_032430		37	4	1	0	1.836e-18	0.064281	1.98362e-18	37	4		
PQLC3	130814	broad.mit.edu	37	2	11300786	11300786	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:11300786G>A	ENST00000295083.3	+	3	437	c.262G>A	c.(262-264)Ggg>Agg	p.G88R	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.G88R|PQLC3_ENST00000402361.1_Missense_Mutation_p.G88R	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	88						integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCATTTTAACGGGAACGTGAA	0.517																																						uc002rbc.2		NaN																	0					0						c.(262-264)GGG>AGG		PQ loop repeat containing 3 precursor							157.0	135.0	142.0					2																	11300786		2203	4300	6503	SO:0001583	missense	130814					integral to membrane		g.chr2:11300786G>A	BC027625	CCDS1679.1, CCDS62856.1, CCDS62857.1	2p25.1	2004-02-05	2005-07-19	2005-07-19	ENSG00000162976	ENSG00000162976			28503	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 22"""	C2orf22		12477932	Standard	NM_001282711		Approved	MGC33602	uc002rbc.3	Q8N755	OTTHUMG00000119055	ENST00000295083.3:c.262G>A	2.37:g.11300786G>A	ENSP00000295083:p.Gly88Arg					PQLC3_uc010yjk.1_Missense_Mutation_p.G88R	p.G88R	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN		Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)	3	395	+	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)		88					B2R8K1|B4DWA4	Missense_Mutation	SNP	ENST00000295083.3	37	c.262G>A	CCDS1679.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.26|11.26	1.586800|1.586800	0.28268|0.28268	.|.	.|.	ENSG00000162976|ENSG00000162976	ENST00000445402;ENST00000295083;ENST00000441908;ENST00000402361|ENST00000428481	D;T;D;D|.	0.87256|.	-2.23;-0.58;-2.22;-2.21|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.056484|.	0.64402|.	D|.	0.000001|.	T|T	0.72120|0.72120	0.3421|0.3421	M|M	0.66506|0.66506	2.035|2.035	0.43457|0.43457	D|D	0.995657|0.995657	P;P|.	0.45986|.	0.707;0.87|.	B;B|.	0.35312|.	0.102;0.2|.	T|T	0.71852|0.71852	-0.4467|-0.4467	10|5	0.30854|.	T|.	0.27|.	-25.5203|-25.5203	15.2439|15.2439	0.73490|0.73490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	88;88|.	B4DWA4;Q8N755|.	.;PQLC3_HUMAN|.	R|Q	111;88;88;88|67	ENSP00000410430:G111R;ENSP00000295083:G88R;ENSP00000406148:G88R;ENSP00000384129:G88R|.	ENSP00000295083:G88R|.	G|R	+|+	1|2	0|0	PQLC3|PQLC3	11218237|11218237	1.000000|1.000000	0.71417|0.71417	0.516000|0.516000	0.27786|0.27786	0.055000|0.055000	0.15305|0.15305	5.308000|5.308000	0.65768|0.65768	2.307000|2.307000	0.77673|0.77673	0.561000|0.561000	0.74099|0.74099	GGG|CGG		0.517	PQLC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239266.4		NM_152391		39	73	0	0	0	0.023175	0	39	73		
WDPCP	51057	broad.mit.edu	37	2	63380641	63380641	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:63380641C>T	ENST00000272321.7	-	16	2674	c.2147G>A	c.(2146-2148)tGt>tAt	p.C716Y	WDPCP_ENST00000398544.3_Missense_Mutation_p.C557Y|WDPCP_ENST00000409199.1_Missense_Mutation_p.C524Y|WDPCP_ENST00000409120.1_Missense_Mutation_p.C524Y	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	716					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTCTGCATTACAGGTATTAGT	0.299																																						uc002sch.2		NaN																	0					0						c.(2146-2148)TGT>TAT		hypothetical protein LOC51057 isoform 2							97.0	91.0	93.0					2																	63380641		1809	4063	5872	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63380641C>T		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.2147G>A	2.37:g.63380641C>T	ENSP00000272321:p.Cys716Tyr					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.C557Y|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.C524Y	p.C716Y	NM_015910	NP_056994	O95876	FRITZ_HUMAN			16	2593	-			716					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.2147G>A	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.243663	0.00271	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544	T;T;T;T	0.71698	-0.59;-0.0;-0.0;-0.0	4.57	-3.49	0.04724	.	.	.	.	.	T	0.43964	0.1271	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.14559	-1.0468	9	0.41790	T	0.15	5.1607	5.6123	0.17412	0.1358:0.3427:0.0:0.5215	.	716;557	O95876;O95876-3	FRITZ_HUMAN;.	Y	716;524;524;557	ENSP00000272321:C716Y;ENSP00000386592:C524Y;ENSP00000386769:C524Y;ENSP00000381552:C557Y	ENSP00000272321:C716Y	C	-	2	0	WDPCP	63234145	0.047000	0.20315	0.000000	0.03702	0.564000	0.35744	-0.919000	0.04017	-1.208000	0.02634	-0.808000	0.03180	TGT		0.299	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1		NM_015910		22	25	0	0	0	0.055883	0	22	25		
MPHOSPH10	10199	broad.mit.edu	37	2	71357850	71357850	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:71357850G>T	ENST00000244230.2	+	1	407	c.55G>T	c.(55-57)Ggc>Tgc	p.G19C	MPHOSPH10_ENST00000468427.1_3'UTR|MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.G19C	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	19					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GACGGAAGTCGGCAAAGCCAC	0.672																																						uc002sht.1		NaN																	0				skin(2)|ovary(1)	3						c.(55-57)GGC>TGC		M-phase phosphoprotein 10							24.0	25.0	25.0					2																	71357850		2202	4297	6499	SO:0001583	missense	10199				RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding	g.chr2:71357850G>T	X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.55G>T	2.37:g.71357850G>T	ENSP00000244230:p.Gly19Cys					MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.G19C	p.G19C	NM_005791	NP_005782	O00566	MPP10_HUMAN			1	407	+			19					A0AVJ8	Missense_Mutation	SNP	ENST00000244230.2	37	c.55G>T	CCDS1916.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314929	0.60524	.	.	ENSG00000124383	ENST00000244230	T	0.10005	2.92	3.75	-3.11	0.05299	.	0.598323	0.17691	N	0.165270	T	0.14700	0.0355	L	0.53249	1.67	0.09310	N	1	D;D	0.67145	0.99;0.996	P;P	0.55455	0.7;0.776	T	0.05484	-1.0882	10	0.56958	D	0.05	.	5.4531	0.16576	0.5603:0.1586:0.2811:0.0	.	19;19	B3KPV5;O00566	.;MPP10_HUMAN	C	19	ENSP00000244230:G19C	ENSP00000244230:G19C	G	+	1	0	MPHOSPH10	71211358	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	0.095000	0.15127	-0.753000	0.04721	-0.259000	0.10710	GGC		0.672	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2		NM_005791		20	20	1	0	2.21704e-12	0.016522	2.35972e-12	20	20		
NCAPH	23397	broad.mit.edu	37	2	97035169	97035169	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:97035169C>T	ENST00000240423.4	+	17	2140	c.2097C>T	c.(2095-2097)ccC>ccT	p.P699P	NCAPH_ENST00000427946.1_Silent_p.P563P|NCAPH_ENST00000455200.1_Silent_p.P688P	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	699					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGCCTGCCCCCTGTCATGG	0.428																																						uc002svz.1		NaN																	0				urinary_tract(1)|skin(1)	2						c.(2095-2097)CCC>CCT		non-SMC condensin I complex, subunit H							202.0	189.0	193.0					2																	97035169		2203	4300	6503	SO:0001819	synonymous_variant	23397				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus		g.chr2:97035169C>T	BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.2097C>T	2.37:g.97035169C>T						NCAPH_uc010yum.1_Silent_p.P675P|NCAPH_uc010fhw.1_Silent_p.P688P|NCAPH_uc010yun.1_Silent_p.P563P|NCAPH_uc002swa.1_Silent_p.P294P	p.P699P	NM_015341	NP_056156	Q15003	CND2_HUMAN			17	2181	+		Ovarian(717;0.0221)	699					B4E189|Q8TB87	Silent	SNP	ENST00000240423.4	37	c.2097C>T	CCDS2021.1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384795	0.11524	.	.	ENSG00000121152	ENST00000435349	T	0.47528	0.84	5.45	-2.33	0.06724	.	0.000000	0.85682	D	0.000000	T	0.25306	0.0615	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10109	-1.0644	7	0.08179	T	0.78	-17.6813	6.9859	0.24727	0.0:0.3602:0.1231:0.5167	.	.	.	.	S	140	ENSP00000415162:P140S	ENSP00000415162:P140S	P	+	1	0	NCAPH	96398896	0.003000	0.15002	0.342000	0.25602	0.779000	0.44077	-0.138000	0.10374	-0.314000	0.08716	0.655000	0.94253	CCC		0.428	NCAPH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252842.2		NM_015341		39	76	0	0	0	0.033182	0	39	76		
ZC3H6	376940	broad.mit.edu	37	2	113074110	113074110	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:113074110G>A	ENST00000409871.1	+	6	1212	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E271K	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	271							metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						GCACACAGTGGAACACAAAGG	0.318																																						uc002thq.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(811-813)GAA>AAA		zinc finger CCCH-type domain containing 6							56.0	53.0	54.0					2																	113074110		1812	4063	5875	SO:0001583	missense	376940						nucleic acid binding|zinc ion binding	g.chr2:113074110G>A	AK123404	CCDS46393.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000188177	ENSG00000188177		"""Zinc fingers, CCCH-type domain containing"""	24762	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 6"""	ZC3HDC6			Standard	NM_198581		Approved	FLJ41410, FLJ45877, KIAA2035	uc002thq.1	P61129	OTTHUMG00000153286	ENST00000409871.1:c.811G>A	2.37:g.113074110G>A	ENSP00000386764:p.Glu271Lys						p.E271K	NM_198581	NP_940983	P61129	ZC3H6_HUMAN			6	1205	+			271					A9JR71|Q6ZW96	Missense_Mutation	SNP	ENST00000409871.1	37	c.811G>A	CCDS46393.1	.	.	.	.	.	.	.	.	.	.	G	36	5.676183	0.96764	.	.	ENSG00000188177	ENST00000409871;ENST00000343936;ENST00000542974	T;T	0.37752	1.18;1.18	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.61098	0.2320	M	0.72894	2.215	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.57165	-0.7858	10	0.40728	T	0.16	-34.2159	19.7971	0.96490	0.0:0.0:1.0:0.0	.	271	P61129	ZC3H6_HUMAN	K	271;271;248	ENSP00000386764:E271K;ENSP00000340298:E271K	ENSP00000340298:E271K	E	+	1	0	ZC3H6	112790581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.346000	0.97056	2.757000	0.94681	0.585000	0.79938	GAA		0.318	ZC3H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330551.1		NM_198581		13	16	0	0	0	0.016723	0	13	16		
POTEE	445582	broad.mit.edu	37	2	132021608	132021608	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:132021608C>T	ENST00000356920.5	+	15	2674	c.2580C>T	c.(2578-2580)acC>acT	p.T860T	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	860	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T860T(1)									ACGGGGTCACCCACACTGTGC	0.617																																						uc002tsn.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(2578-2580)ACC>ACT		protein expressed in prostate, ovary, testis,							52.0	52.0	52.0					2																	132021608		2168	4221	6389	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132021608C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2580C>T	2.37:g.132021608C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T460T|POTEE_uc002tsl.2_Silent_p.T442T|POTEE_uc010fmy.1_Silent_p.T324T	p.T860T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			15	2632	+			860			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.2580C>T	CCDS46414.1																																																																																				0.617	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001083538		61	121	0	0	0	0.048971	0	61	121		
SPHKAP	80309	broad.mit.edu	37	2	228860382	228860382	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:228860382C>T	ENST00000392056.3	-	8	4523	c.4477G>A	c.(4477-4479)Gag>Aag	p.E1493K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E1493K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1493						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTTCAGCCTCTGGTACATCT	0.557																																						uc002vpq.2		NaN																	0				skin(5)|ovary(4)|lung(1)	10						c.(4477-4479)GAG>AAG		sphingosine kinase type 1-interacting protein							51.0	53.0	52.0					2																	228860382		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228860382C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4477G>A	2.37:g.228860382C>T	ENSP00000375909:p.Glu1493Lys					SPHKAP_uc002vpp.2_Missense_Mutation_p.E1493K|SPHKAP_uc010zlx.1_Intron	p.E1493K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	8	4524	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1493					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4477G>A	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	7.434	0.639394	0.14386	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12255	2.7;2.7	6.06	4.24	0.50183	.	0.364861	0.30771	N	0.008910	T	0.23532	0.0569	M	0.65975	2.015	0.09310	N	1	P;P	0.39665	0.682;0.646	B;B	0.42282	0.261;0.382	T	0.04467	-1.0949	10	0.51188	T	0.08	.	18.6891	0.91576	0.0:0.7782:0.2218:0.0	.	1493;1493	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	1493	ENSP00000375909:E1493K;ENSP00000339886:E1493K	ENSP00000339886:E1493K	E	-	1	0	SPHKAP	228568626	0.995000	0.38212	0.001000	0.08648	0.002000	0.02628	2.644000	0.46613	0.437000	0.26423	-0.795000	0.03280	GAG		0.557	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623		23	45	0	0	0	0.014323	0	23	45		
COL6A3	1293	broad.mit.edu	37	2	238287358	238287358	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:238287358T>C	ENST00000295550.4	-	6	2870	c.2418A>G	c.(2416-2418)ccA>ccG	p.P806P	COL6A3_ENST00000347401.3_Silent_p.P605P|COL6A3_ENST00000392004.3_Silent_p.P600P|COL6A3_ENST00000409809.1_Silent_p.P600P|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Silent_p.P600P|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392003.2_Silent_p.P399P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	806	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GAGGCAAAGCTGGCAGGGAGC	0.527																																						uc002vwl.2		NaN																	0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(2416-2418)CCA>CCG		alpha 3 type VI collagen isoform 1 precursor							78.0	75.0	76.0					2																	238287358		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238287358T>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2418A>G	2.37:g.238287358T>C						COL6A3_uc002vwo.2_Silent_p.P600P|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.2_Silent_p.P600P|COL6A3_uc002vwr.2_Silent_p.P399P|COL6A3_uc010znk.1_Intron	p.P806P	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	6	2703	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	806			VWFA 4.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.2418A>G	CCDS33412.1																																																																																				0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		39	65	0	0	0	0.021022	0	39	65		
SSTR4	6754	broad.mit.edu	37	20	23016850	23016850	+	Missense_Mutation	SNP	C	C	T	rs4988474	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23016850C>T	ENST00000255008.3	+	1	794	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	244					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGTGGCCCTGCGCGCTGGCTG	0.622													C|||	5	0.000998403	0.0	0.0	5008	,	,		16835	0.0		0.004	False		,,,				2504	0.001				Esophageal Squamous(15;850 1104 16640)	uc002wsr.2		NaN																	0				ovary(1)	1						c.(730-732)CGC>TGC		somatostatin receptor 4		C	CYS/ARG	5,4291		0,5,2143	72.0	83.0	80.0		730	-0.1	0.8	20	dbSNP_113	80	38,8510		0,38,4236	yes	missense	SSTR4	NM_001052.2	180	0,43,6379	TT,TC,CC		0.4445,0.1164,0.3348	probably-damaging	244/389	23016850	43,12801	2148	4274	6422	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016850C>T		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.730C>T	20.37:g.23016850C>T	ENSP00000255008:p.Arg244Cys						p.R244C	NM_001052	NP_001043	P31391	SSR4_HUMAN			1	794	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		244			Cytoplasmic (Potential).		Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.730C>T	CCDS42856.1	16	0.007326007326007326	3	0.006097560975609756	2	0.0055248618784530384	2	0.0034965034965034965	9	0.011873350923482849	C	14.97	2.695200	0.48202	0.001164	0.004445	ENSG00000132671	ENST00000255008	T	0.73363	-0.74	3.6	-0.104	0.13605	GPCR, rhodopsin-like superfamily (1);	0.096877	0.39759	U	0.001272	T	0.74550	0.3731	M	0.70108	2.13	0.09310	N	0.999998	D	0.89917	1.0	D	0.71414	0.973	T	0.66567	-0.5891	10	0.87932	D	0	.	5.8343	0.18599	0.4317:0.4594:0.0:0.1089	rs4988474	244	P31391	SSR4_HUMAN	C	244	ENSP00000255008:R244C	ENSP00000255008:R244C	R	+	1	0	SSTR4	22964850	0.000000	0.05858	0.773000	0.31616	0.978000	0.69477	-0.968000	0.03817	0.169000	0.19679	0.655000	0.94253	CGC		0.622	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1				8	157	0	0	0	0.038147	0	8	157		
CST9	128822	broad.mit.edu	37	20	23586272	23586272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:23586272C>T	ENST00000376971.3	-	1	241	c.230G>A	c.(229-231)tGg>tAg	p.W77*		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	77						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)					ATCCTCCCTCCATGAACTCAG	0.532																																						uc002wtl.2		NaN																	0				ovary(1)	1						c.(229-231)TGG>TAG		cystatin 9 precursor							248.0	181.0	203.0					20																	23586272		2203	4300	6503	SO:0001587	stop_gained	128822					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23586272C>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.230G>A	20.37:g.23586272C>T	ENSP00000366170:p.Trp77*						p.W77*	NM_001008693	NP_001008693	Q5W186	CST9_HUMAN			1	339	-	Colorectal(13;0.0993)		77					B2RP76|Q8TD53	Nonsense_Mutation	SNP	ENST00000376971.3	37	c.230G>A	CCDS33450.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.892084	0.33442	.	.	ENSG00000173335	ENST00000376971	.	.	.	2.85	-2.33	0.06724	.	1.640840	0.04131	N	0.317930	.	.	.	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.0268	0.06094	0.2147:0.2983:0.0:0.487	.	.	.	.	X	77	.	ENSP00000366170:W77X	W	-	2	0	CST9	23534272	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.263000	0.08670	-0.514000	0.06488	-0.229000	0.12294	TGG		0.532	CST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078341.1		NM_001008693.1		86	127	0	0	0	0.048971	0	86	127		
PHF20	51230	broad.mit.edu	37	20	34501269	34501269	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr20:34501269G>A	ENST00000374012.3	+	11	1789	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	554					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					aaCCAAACCTGGTAATTTTTT	0.408																																						uc002xek.1		NaN																	0				ovary(1)	1						c.(1660-1662)GAA>AAA		PHD finger protein 20							27.0	30.0	29.0					20																	34501269		2163	4276	6439	SO:0001630	splice_region_variant	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34501269G>A	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1660+1G>A	20.37:g.34501269G>A						PHF20_uc002xei.1_3'UTR|PHF20_uc010gfo.1_3'UTR|PHF20_uc002xej.1_3'UTR	p.E554K	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN			11	1771	+	Breast(12;0.00631)|all_lung(11;0.0145)		554					A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	c.1660G>A	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.981702	0.53827	.	.	ENSG00000025293	ENST00000374012	T	0.30981	1.51	4.73	4.73	0.59995	.	0.551631	0.21372	N	0.075601	T	0.24736	0.0600	L	0.34521	1.04	0.80722	D	1	B	0.17038	0.02	B	0.12156	0.007	T	0.03221	-1.1059	10	0.25106	T	0.35	.	15.1507	0.72696	0.0:0.0:1.0:0.0	.	554	Q9BVI0	PHF20_HUMAN	K	554	ENSP00000363124:E554K	ENSP00000363124:E554K	E	+	1	0	PHF20	33964683	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	4.509000	0.60448	2.643000	0.89663	0.479000	0.44913	GAA		0.408	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	Missense_Mutation	11	25	0	0	0	0.010729	0	11	25		
TIAM1	7074	broad.mit.edu	37	21	32575281	32575281	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:32575281T>C	ENST00000286827.3	-	13	2907	c.2436A>G	c.(2434-2436)ctA>ctG	p.L812L	TIAM1_ENST00000541036.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	812	RBD. {ECO:0000255|PROSITE- ProRule:PRU00262}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGTTTTCTATTAGAAATTTCA	0.388																																						uc002yow.1		NaN																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(2434-2436)CTA>CTG		T-cell lymphoma invasion and metastasis 1							177.0	171.0	173.0					21																	32575281		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32575281T>C		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.2436A>G	21.37:g.32575281T>C						TIAM1_uc011adk.1_Silent_p.L812L|TIAM1_uc011adl.1_Intron	p.L812L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			13	2908	-			812			RBD.		B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.2436A>G	CCDS13609.1																																																																																				0.388	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1		NM_003253		81	88	0	0	0	0.048971	0	81	88		
KRTAP10-11	386678	broad.mit.edu	37	21	46066461	46066461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr21:46066461C>T	ENST00000334670.8	+	1	131	c.86C>T	c.(85-87)cCc>cTc	p.P29L	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	29	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						TGCTGTGAGCCCCCCTGCAGC	0.706																																						uc002zfr.3		NaN																	0				ovary(1)	1						c.(85-87)CCC>CTC		keratin associated protein 10-11							36.0	40.0	39.0					21																	46066461		2160	4253	6413	SO:0001583	missense	386678					keratin filament		g.chr21:46066461C>T	AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.86C>T	21.37:g.46066461C>T	ENSP00000334197:p.Pro29Leu					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P29L	NM_198692	NP_941965	P60412	KR10B_HUMAN			1	131	+			29			25 X 5 AA repeats of C-C-X(3).|1.		A2RRF9	Missense_Mutation	SNP	ENST00000334670.8	37	c.86C>T	CCDS42962.1	.	.	.	.	.	.	.	.	.	.	c	10.90	1.480937	0.26598	.	.	ENSG00000243489	ENST00000334670	T	0.15603	2.41	3.79	3.79	0.43588	.	.	.	.	.	T	0.35624	0.0938	M	0.90922	3.16	0.43819	D	0.99638	P	0.47841	0.901	P	0.46975	0.533	T	0.52660	-0.8546	9	0.72032	D	0.01	.	13.2067	0.59800	0.0:1.0:0.0:0.0	.	29	P60412	KR10B_HUMAN	L	29	ENSP00000334197:P29L	ENSP00000334197:P29L	P	+	2	0	KRTAP10-11	44890889	0.196000	0.23350	0.839000	0.33178	0.191000	0.23601	1.721000	0.38032	1.675000	0.50919	0.456000	0.33151	CCC		0.706	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128029.1		NM_198692		55	71	0	0	0	0.048971	0	55	71		
AIFM3	150209	broad.mit.edu	37	22	21335037	21335037	+	Splice_Site	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:21335037C>G	ENST00000399167.2	+	20	1999	c.1759C>G	c.(1759-1761)Ctg>Gtg	p.L587V	AIFM3_ENST00000465606.1_Intron|AIFM3_ENST00000405089.1_Intron|AIFM3_ENST00000440238.2_Splice_Site_p.L587V|LZTR1_ENST00000479606.1_Intron|LZTR1_ENST00000389355.3_5'Flank|AIFM3_ENST00000335375.5_Intron|LZTR1_ENST00000215739.8_5'Flank|XXbac-B135H6.18_ENST00000610278.1_lincRNA|AIFM3_ENST00000333607.6_Intron|AIFM3_ENST00000399163.2_Intron	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	587					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTCGTGAAGGCTGTTTGTGCT	0.522																																						uc002ztj.2		NaN																	0				ovary(2)|lung(2)	4						c.(1759-1761)CTG>GTG		apoptosis-inducing factor,							453.0	376.0	402.0					22																	21335037		2203	4300	6503	SO:0001630	splice_region_variant	150209				activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport	endoplasmic reticulum|mitochondrial inner membrane	2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding	g.chr22:21335037C>G	AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1758-1C>G	22.37:g.21335037C>G						AIFM3_uc002ztk.2_Intron|AIFM3_uc002ztl.2_Intron|AIFM3_uc011ahx.1_Intron|AIFM3_uc002ztm.1_Intron|LZTR1_uc002ztn.2_Intron|LZTR1_uc002zto.2_5'Flank|LZTR1_uc011ahy.1_5'Flank	p.L587V	NM_144704	NP_653305	Q96NN9	AIFM3_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		20	1977	+	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	587					B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	c.1759C>G	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	C	4.144	0.025181	0.08054	.	.	ENSG00000183773	ENST00000399167;ENST00000440238	T;T	0.49432	0.78;0.78	3.89	2.48	0.30137	.	0.421699	0.18090	U	0.152017	T	0.28466	0.0704	N	0.24115	0.695	0.80722	D	1	B	0.17465	0.022	B	0.09377	0.004	T	0.05484	-1.0882	10	0.30078	T	0.28	-31.658	5.8151	0.18488	0.0:0.7952:0.0:0.2048	.	587	Q96NN9	AIFM3_HUMAN	V	587	ENSP00000382120:L587V;ENSP00000390798:L587V	ENSP00000382120:L587V	L	+	1	2	AIFM3	19665037	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.512000	0.35812	0.632000	0.30432	0.563000	0.77884	CTG		0.522	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1		NM_144704	Missense_Mutation	21	220	0	0	0	0.016522	0	21	220		
AP1B1	162	broad.mit.edu	37	22	29750657	29750657	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:29750657T>C	ENST00000405198.1	-	6	951	c.920A>G	c.(919-921)aAt>aGt	p.N307S	AP1B1_ENST00000356015.2_Missense_Mutation_p.N307S|AP1B1_ENST00000432560.2_Missense_Mutation_p.N307S|AP1B1_ENST00000402502.1_Missense_Mutation_p.N307S|AP1B1_ENST00000357586.2_Missense_Mutation_p.N307S|AP1B1_ENST00000317368.7_Missense_Mutation_p.N307S|AP1B1_ENST00000415447.1_Missense_Mutation_p.N307S			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	307					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACGATGAGATTGATGTTGCG	0.582																																						uc003afj.2		NaN																	0				ovary(1)|skin(1)	2						c.(919-921)AAT>AGT		adaptor-related protein complex 1 beta 1 subunit							140.0	110.0	120.0					22																	29750657		2203	4300	6503	SO:0001583	missense	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29750657T>C	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.920A>G	22.37:g.29750657T>C	ENSP00000384194:p.Asn307Ser					AP1B1_uc003afi.2_Missense_Mutation_p.N307S|AP1B1_uc003afk.2_Missense_Mutation_p.N307S|AP1B1_uc003afl.2_Missense_Mutation_p.N307S	p.N307S	NM_001127	NP_001118	Q10567	AP1B1_HUMAN			7	1104	-			307					C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	ENST00000405198.1	37	c.920A>G	CCDS13855.1	.	.	.	.	.	.	.	.	.	.	T	17.18	3.322874	0.60634	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447;ENST00000421126	T;T;T;T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75;2.75;2.75;2.75	4.75	4.75	0.60458	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.080378	0.85682	D	0.000000	T	0.25754	0.0627	L	0.48218	1.51	0.80722	D	1	B;B;D;D	0.76494	0.035;0.035;0.996;0.999	B;B;D;D	0.80764	0.013;0.013;0.929;0.994	T	0.00738	-1.1587	10	0.54805	T	0.06	-34.4508	14.0735	0.64874	0.0:0.0:0.0:1.0	.	307;307;307;307	F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;AP1B1_HUMAN;.	S	307	ENSP00000350199:N307S;ENSP00000348297:N307S;ENSP00000400065:N307S;ENSP00000384194:N307S;ENSP00000319361:N307S;ENSP00000386071:N307S;ENSP00000387612:N307S;ENSP00000400022:N307S	ENSP00000319361:N307S	N	-	2	0	AP1B1	28080657	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.868000	0.87116	2.012000	0.59069	0.482000	0.46254	AAT		0.582	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1		NM_001127		10	94	0	0	0	0.008291	0	10	94		
CHKB	1120	broad.mit.edu	37	22	51020239	51020239	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr22:51020239C>T	ENST00000406938.2	-	3	603	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CHKB_ENST00000463053.1_5'UTR|CPT1B_ENST00000434492.2_5'Flank|CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	129					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CCCCAGCGACCGCTCCGCAAG	0.617																																						uc003bms.2		NaN																	0					0						c.(385-387)CGG>CAG		choline kinase beta	Choline(DB00122)						87.0	86.0	87.0					22																	51020239		2203	4300	6503	SO:0001583	missense	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51020239C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.386G>A	22.37:g.51020239C>T	ENSP00000384400:p.Arg129Gln					CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_Missense_Mutation_p.R8Q|CHKB_uc003bmv.2_Missense_Mutation_p.R129Q|LOC100144603_uc003bmw.3_5'Flank	p.R129Q	NM_005198	NP_005189	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	3	604	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	129					A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	c.386G>A	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890630	0.97074	.	.	ENSG00000100288	ENST00000406938	T	0.57107	0.42	4.97	4.97	0.65823	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.000000	0.64402	D	0.000001	T	0.71230	0.3315	M	0.70595	2.14	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.73448	-0.3979	10	0.52906	T	0.07	-6.003	15.727	0.77770	0.0:1.0:0.0:0.0	.	129	Q9Y259	CHKB_HUMAN	Q	129	ENSP00000384400:R129Q	ENSP00000384400:R129Q	R	-	2	0	CHKB	49367105	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.528000	0.81941	2.293000	0.77203	0.555000	0.69702	CGG		0.617	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3		NM_005198		49	92	0	0	0	0.048971	0	49	92		
SCN11A	11280	broad.mit.edu	37	3	38888718	38888718	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38888718C>T	ENST00000302328.3	-	26	5041	c.4843G>A	c.(4843-4845)Gag>Aag	p.E1615K	SCN11A_ENST00000456224.3_Missense_Mutation_p.E1577K|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1615K	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1615					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAGGGTCCTCACTTTCTTCA	0.368																																						uc011ays.1		NaN																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4843-4845)GAG>AAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						106.0	109.0	108.0					3																	38888718		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888718C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4843G>A	3.37:g.38888718C>T	ENSP00000307599:p.Glu1615Lys						p.E1615K	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5042	-			1615					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4843G>A	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690850	0.48097	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.96232	-3.95;-3.95;-3.9	5.33	3.53	0.40419	.	0.122560	0.52532	D	0.000067	D	0.93703	0.7988	M	0.66506	2.035	0.28737	N	0.902155	P	0.44734	0.842	B	0.36922	0.236	D	0.90187	0.4247	10	0.66056	D	0.02	.	9.5152	0.39102	0.0:0.777:0.0:0.223	.	1615	Q9UI33	SCNBA_HUMAN	K	1615;1615;1577	ENSP00000307599:E1615K;ENSP00000400945:E1615K;ENSP00000416757:E1577K	ENSP00000307599:E1615K	E	-	1	0	SCN11A	38863722	0.159000	0.22864	0.998000	0.56505	0.987000	0.75469	0.423000	0.21313	1.237000	0.43756	0.446000	0.29264	GAG		0.368	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		13	144	0	0	0	0.013537	0	13	144		
SCN11A	11280	broad.mit.edu	37	3	38926797	38926797	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:38926797C>G	ENST00000302328.3	-	17	3244	c.3046G>C	c.(3046-3048)Gag>Cag	p.E1016Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.E1016Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.E978Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.E1016Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1016					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAACATCTCTCTGGTTGCTTT	0.428																																						uc011ays.1		NaN																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(3046-3048)GAG>CAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						158.0	147.0	150.0					3																	38926797		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38926797C>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3046G>C	3.37:g.38926797C>G	ENSP00000307599:p.Glu1016Gln					SCN11A_uc010hhn.1_Missense_Mutation_p.E94Q	p.E1016Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	17	3245	-			1016					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.3046G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302530	0.60195	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	5.06	4.19	0.49359	Sodium ion transport-associated (1);	0.427895	0.26122	N	0.026213	D	0.86426	0.5930	M	0.79258	2.445	0.24627	N	0.993647	P	0.43701	0.815	B	0.42798	0.398	T	0.81123	-0.1076	10	0.62326	D	0.03	.	7.6018	0.28079	0.0:0.8135:0.0:0.1865	.	1016	Q9UI33	SCNBA_HUMAN	Q	1016;1016;978;1016	ENSP00000307599:E1016Q;ENSP00000400945:E1016Q;ENSP00000416757:E978Q;ENSP00000408028:E1016Q	ENSP00000307599:E1016Q	E	-	1	0	SCN11A	38901801	0.996000	0.38824	0.968000	0.41197	0.975000	0.68041	2.270000	0.43355	1.350000	0.45770	0.655000	0.94253	GAG		0.428	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		8	80	0	0	0	0.047766	0	8	80		
IQCF1	132141	broad.mit.edu	37	3	51929352	51929352	+	Splice_Site	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:51929352G>T	ENST00000310914.5	-	4	234	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	58										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCTGGGGGCTTTCAAGAA	0.562																																						uc003dbv.2		NaN																	0				ovary(1)	1						c.(172-174)CCC>ACC		IQ motif containing F1							27.0	30.0	29.0					3																	51929352		2153	4280	6433	SO:0001630	splice_region_variant	132141							g.chr3:51929352G>T	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.172-1C>A	3.37:g.51929352G>T						IQCF1_uc003dbq.3_Intron	p.P58T	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	4	270	-			58					Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.172C>A	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	G	6.061	0.379662	0.11466	.	.	ENSG00000173389	ENST00000310914	T	0.28069	1.63	4.37	-6.84	0.01687	.	2.570140	0.01321	N	0.010950	T	0.12987	0.0315	N	0.14661	0.345	0.09310	N	1	B	0.22003	0.063	B	0.16722	0.016	T	0.12889	-1.0530	10	0.14252	T	0.57	-4.3611	1.7535	0.02977	0.1839:0.3239:0.334:0.1582	.	58	Q8N6M8	IQCF1_HUMAN	T	58	ENSP00000307958:P58T	ENSP00000307958:P58T	P	-	1	0	IQCF1	51904392	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-1.367000	0.02583	-1.306000	0.02324	-0.311000	0.09066	CCC		0.562	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1		NM_152397	Missense_Mutation	30	42	1	0	1.2476e-16	0.030593	1.34117e-16	30	42		
ITIH4	3700	broad.mit.edu	37	3	52857966	52857966	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:52857966C>A	ENST00000266041.4	-	10	1322	c.1226G>T	c.(1225-1227)cGg>cTg	p.R409L	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000406595.1_Missense_Mutation_p.R409L|ITIH4_ENST00000346281.5_Missense_Mutation_p.R409L|ITIH4_ENST00000485816.1_Missense_Mutation_p.R409L|ITIH4_ENST00000434759.3_Missense_Mutation_p.R321L|ITIH4-AS1_ENST00000478366.1_RNA	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	409	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAGGCTGTACCGGCCACTTAC	0.582																																						uc003dfz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1225-1227)CGG>CTG		inter-alpha (globulin) inhibitor H4							49.0	48.0	48.0					3																	52857966		2203	4300	6503	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857966C>A	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1226G>T	3.37:g.52857966C>A	ENSP00000266041:p.Arg409Leu					ITIH4_uc011bel.1_Missense_Mutation_p.R139L|ITIH4_uc003dfy.2_Missense_Mutation_p.R273L|ITIH4_uc011bem.1_Missense_Mutation_p.R409L|ITIH4_uc011ben.1_Missense_Mutation_p.R409L	p.R409L	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	10	1262	-			409			VWFA.		B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1226G>T	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.552222	0.27739	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	4.53	-5.9	0.02275	von Willebrand factor, type A (3);	1.015100	0.07907	N	0.973611	T	0.78110	0.4232	M	0.66560	2.04	0.20307	N	0.999913	P;P;P;P	0.39696	0.683;0.683;0.54;0.498	B;P;P;B	0.45856	0.373;0.495;0.495;0.277	T	0.75363	-0.3344	10	0.66056	D	0.02	-4.8551	12.9749	0.58532	0.0:0.4189:0.0:0.5811	.	409;409;409;409	E9PGN5;B7ZKJ8;Q14624;Q14624-2	.;.;ITIH4_HUMAN;.	L	409;409;409;409;397;321	ENSP00000266041:R409L;ENSP00000340520:R409L;ENSP00000417824:R409L;ENSP00000384425:R409L;ENSP00000440036:R321L	ENSP00000266041:R409L	R	-	2	0	ITIH4	52833006	0.017000	0.18338	0.292000	0.24919	0.121000	0.20230	0.260000	0.18424	-0.973000	0.03555	-0.448000	0.05591	CGG		0.582	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1		NM_002218		34	75	1	0	6.90743e-12	0.064281	7.31575e-12	34	75		
DNASE1L3	1776	broad.mit.edu	37	3	58186750	58186750	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:58186750C>T	ENST00000394549.2	-	5	836	c.520G>A	c.(520-522)Gac>Aac	p.D174N	DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D144N|DNASE1L3_ENST00000483681.1_Missense_Mutation_p.D174N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D174N	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	174					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TGTTTCACGTCCGTGTAGACC	0.547																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	uc003djo.1		NaN																	0				breast(2)|large_intestine(1)	3						c.(520-522)GAC>AAC		deoxyribonuclease I-like 3 precursor							184.0	187.0	186.0					3																	58186750		2203	4300	6503	SO:0001583	missense	1776				apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chr3:58186750C>T	AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.520G>A	3.37:g.58186750C>T	ENSP00000378053:p.Asp174Asn					DNASE1L3_uc011bfd.1_Missense_Mutation_p.D144N|DNASE1L3_uc003djp.1_Missense_Mutation_p.D174N|DNASE1L3_uc003djq.1_Missense_Mutation_p.D174N	p.D174N	NM_004944	NP_004935	Q13609	DNSL3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)	5	617	-			174					B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	ENST00000394549.2	37	c.520G>A	CCDS2886.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096603	0.76870	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.22	4.33	0.51752	Endonuclease/exonuclease/phosphatase (2);	0.229716	0.36778	N	0.002414	T	0.69378	0.3104	M	0.80982	2.52	0.19300	N	0.999974	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.72625	0.964;0.978;0.967	T	0.65413	-0.6174	10	0.66056	D	0.02	.	15.2612	0.73625	0.1413:0.8587:0.0:0.0	.	144;174;174	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	N	144;174;174;174;48;174	ENSP00000419052:D144N;ENSP00000316193:D174N;ENSP00000417047:D174N;ENSP00000417976:D48N;ENSP00000378053:D174N	ENSP00000316193:D174N	D	-	1	0	DNASE1L3	58161790	0.856000	0.29760	0.039000	0.18376	0.095000	0.18619	2.156000	0.42310	1.401000	0.46761	0.655000	0.94253	GAC		0.547	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353533.1		NM_004944		100	175	0	0	0	0.048971	0	100	175		
FAM19A4	151647	broad.mit.edu	37	3	68802170	68802170	+	Splice_Site	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:68802170C>T	ENST00000295569.7	-	4	623		c.e4-1			NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4							extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TGGTGGTGACCTAGTTGGTAA	0.478																																						uc003dnh.1		NaN																	0				skin(2)	2						c.e4-1		family with sequence similarity 19 (chemokine							61.0	54.0	57.0					3																	68802170		2203	4300	6503	SO:0001630	splice_region_variant	151647					extracellular region		g.chr3:68802170C>T	AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.131-1G>A	3.37:g.68802170C>T						FAM19A4_uc003dni.1_Splice_Site_p.G44_splice	p.G44_splice	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)	4	574	-		Lung NSC(201;0.0198)						A8MVT2	Splice_Site	SNP	ENST00000295569.7	37	c.131_splice	CCDS2907.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402527	0.42613	.	.	ENSG00000163377	ENST00000295569;ENST00000495737	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0949	0.93246	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM19A4	68884860	1.000000	0.71417	0.982000	0.44146	0.403000	0.30841	3.364000	0.52328	2.508000	0.84585	0.591000	0.81541	.		0.478	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352002.1		NM_182522	Intron	16	29	0	0	0	0.028581	0	16	29		
LMOD3	56203	broad.mit.edu	37	3	69168084	69168084	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:69168084C>T	ENST00000420581.2	-	2	1601	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	LMOD3_ENST00000489031.1_Silent_p.Q474Q|LMOD3_ENST00000475434.1_Silent_p.Q474Q	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	474						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		ACTTCGGGGCCTGCGATGGCT	0.562																																						uc003dns.2		NaN																	0				ovary(1)	1						c.(1420-1422)CAG>CAA		leiomodin 3 (fetal)							69.0	74.0	72.0					3																	69168084		2050	4214	6264	SO:0001819	synonymous_variant	56203					cytoplasm|cytoskeleton	tropomyosin binding	g.chr3:69168084C>T	AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.1422G>A	3.37:g.69168084C>T						LMOD3_uc003dnt.2_Silent_p.Q474Q	p.Q474Q	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)	2	1631	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	474					B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Silent	SNP	ENST00000420581.2	37	c.1422G>A	CCDS46862.1																																																																																				0.562	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352138.1		XM_067529		4	68	0	0	0	0.009096	0	4	68		
ZDHHC23	254887	broad.mit.edu	37	3	113667649	113667649	+	5'UTR	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:113667649C>G	ENST00000330212.3	+	0	299				RP11-255E6.6_ENST00000609657.1_RNA|ZDHHC23_ENST00000498275.1_Intron	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23						protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AGGTGCAAATCATGACACAGA	0.483																																						uc003eau.2		NaN																	0				ovary(2)	2						c.(-2-2)ATCAT>ATGAT		zinc finger, DHHC domain containing 23							92.0	93.0	93.0					3																	113667649		2203	4300	6503	SO:0001623	5_prime_UTR_variant	254887					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:113667649C>G	AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.-1C>G	3.37:g.113667649C>G						ZDHHC23_uc003eav.2_Intron		NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN			2	299	+								D3DN76	Translation_Start_Site	SNP	ENST00000330212.3	37	c.0C>G	CCDS33827.1																																																																																				0.483	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354702.1		NM_173570		40	31	0	0	0	0.030466	0	40	31		
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						uc011bto.1		NaN																	10	Substitution - Missense(10)		kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)		0						c.(12229-12231)CAC>CAG		mucin 4 isoform a							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.H4077Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12691	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12231C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		5	4	0	0	0	0.014758	0	5	4		
FGFR3	2261	broad.mit.edu	37	4	1806088	1806089	+	Missense_Mutation	DNP	GG	GG	TT	rs121913479		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			GG	TT	GG	GG		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:1806088_1806089GG>TT	ENST00000260795.2	+	8	1209_1210	c.1107_1108GG>TT	c.(1105-1110)gcGGgc>gcTTgc	p.G370C	FGFR3_ENST00000481110.2_Missense_Mutation_p.G370C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000340107.4_Missense_Mutation_p.G372C|FGFR3_ENST00000440486.2_Missense_Mutation_p.G370C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	370			G -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1). {ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:16841094, ECO:0000269|PubMed:8845844, ECO:0000269|PubMed:9790257}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.G370C(108)|p.A369A(6)|p.A369_G370>VC(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	CTGACGAGGCGGGCAGTGTGTA	0.688		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		115	Substitution - Missense(108)|Substitution - coding silent(6)|Complex - compound substitution(1)	p.G370C(125)|p.A369A(6)|p.A369_G370>VC(1)	urinary_tract(106)|skin(9)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM960656	FGFR3	M	rs121913479	c.(1105-1110)GCGGGC>GCTTGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)																																			SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1806088_1806089GG>TT	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	Exception_encountered	4.37:g.1806088_1806089delinsTT	ENSP00000260795:p.Gly370Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.G372C|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.G370C	p.G370C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		9	1363_1364	+		Breast(71;0.212)|all_epithelial(65;0.241)	370		G -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	DNP	ENST00000260795.2	37	c.1107_1108GG>TT	CCDS3353.1																																																																																				0.688	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		101	150	0	0	0	0.004672	0	101	150		
MXD4	10608	broad.mit.edu	37	4	2252898	2252898	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:2252898G>A	ENST00000337190.2	-	5	698	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	MIR4800_ENST00000537353.2_RNA	NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	129					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCTCCAGGCGCCGCTTCAGG	0.662																																						uc003geu.1		NaN																	0					0						c.(385-387)CGC>TGC		MAD4							23.0	24.0	24.0					4																	2252898		2201	4300	6501	SO:0001583	missense	10608				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr4:2252898G>A		CCDS3361.1	4p16.3	2008-08-19			ENSG00000123933	ENSG00000123933		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	13906	protein-coding gene	gene with protein product						8521822	Standard	NM_006454		Approved	MAD4, MSTP149, MST149, bHLHc12	uc003geu.1	Q14582	OTTHUMG00000090243	ENST00000337190.2:c.385C>T	4.37:g.2252898G>A	ENSP00000337889:p.Arg129Cys						p.R129C	NM_006454	NP_006445	Q14582	MAD4_HUMAN			5	417	-			129					A2A335|Q5TZX4	Missense_Mutation	SNP	ENST00000337190.2	37	c.385C>T	CCDS3361.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628775	0.87560	.	.	ENSG00000123933	ENST00000337190	T	0.32515	1.45	4.49	3.58	0.41010	Helix-loop-helix DNA-binding (2);	0.056873	0.64402	D	0.000001	T	0.52208	0.1720	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.57843	-0.7741	10	0.87932	D	0	-24.3164	10.8847	0.46960	0.0:0.0:0.8111:0.1889	.	129	Q14582	MAD4_HUMAN	C	129	ENSP00000337889:R129C	ENSP00000337889:R129C	R	-	1	0	MXD4	2222696	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.825000	0.55730	2.025000	0.59659	0.511000	0.50034	CGC		0.662	MXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206519.1		NM_006454		8	10	0	0	0	0.038147	0	8	10		
ATP8A1	10396	broad.mit.edu	37	4	42545975	42545975	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:42545975G>A	ENST00000381668.5	-	20	1912	c.1681C>T	c.(1681-1683)Cgc>Tgc	p.R561C	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R546C	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	561					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GATGGAGTGCGAACAATCACT	0.338																																						uc003gwr.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(1681-1683)CGC>TGC		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						111.0	95.0	101.0					4																	42545975		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42545975G>A	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1681C>T	4.37:g.42545975G>A	ENSP00000371084:p.Arg561Cys					ATP8A1_uc003gws.2_Missense_Mutation_p.R546C|ATP8A1_uc011byz.1_Missense_Mutation_p.R546C	p.R561C	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			20	1913	-			561			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.1681C>T	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092031	0.76756	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	D;D	0.83506	-1.73;-1.73	5.95	5.95	0.96441	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.94125	0.8116	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	P;D;D	0.79784	0.568;0.993;0.993	D	0.94827	0.7992	10	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	546;546;561	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	C	561;546	ENSP00000371084:R561C;ENSP00000264449:R546C	ENSP00000264449:R546C	R	-	1	0	ATP8A1	42240732	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.480000	0.66820	2.821000	0.97095	0.650000	0.86243	CGC		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2		NM_006095		16	31	0	0	0	0.043863	0	16	31		
LRRC66	339977	broad.mit.edu	37	4	52862253	52862253	+	Missense_Mutation	SNP	C	C	T	rs527846401		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:52862253C>T	ENST00000343457.3	-	4	941	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	312						integral component of membrane (GO:0016021)		p.R312H(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GCTTTTCATGCGATGCAGATG	0.562																																						uc003gzi.2		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(934-936)CGC>CAC		leucine rich repeat containing 66							56.0	52.0	53.0					4																	52862253		1843	4095	5938	SO:0001583	missense	339977					integral to membrane		g.chr4:52862253C>T	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.935G>A	4.37:g.52862253C>T	ENSP00000341944:p.Arg312His						p.R312H	NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN			4	948	-			312						Missense_Mutation	SNP	ENST00000343457.3	37	c.935G>A	CCDS43229.1	.	.	.	.	.	.	.	.	.	.	C	5.074	0.199259	0.09652	.	.	ENSG00000188993	ENST00000343457	T	0.43688	0.94	3.65	-3.49	0.04724	.	0.814794	0.10629	N	0.652361	T	0.14614	0.0353	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16778	-1.0391	10	0.31617	T	0.26	-0.1157	5.7739	0.18269	0.0:0.2445:0.4109:0.3445	.	312	Q68CR7	LRC66_HUMAN	H	312	ENSP00000341944:R312H	ENSP00000341944:R312H	R	-	2	0	LRRC66	52557010	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.041000	0.13927	-1.097000	0.03042	-2.484000	0.00197	CGC		0.562	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361473.1		NM_001024611		28	36	0	0	0	0.041601	0	28	36		
TECRL	253017	broad.mit.edu	37	4	65170940	65170940	+	Missense_Mutation	SNP	C	C	A	rs141462797		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:65170940C>A	ENST00000381210.3	-	7	784	c.674G>T	c.(673-675)tGg>tTg	p.W225L	TECRL_ENST00000507440.1_Missense_Mutation_p.W225L|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	225					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AGTAAATCCCCAGTAAAAGGC	0.308																																						uc003hcv.2		NaN																	0					0						c.(673-675)TGG>TTG		steroid 5 alpha-reductase 2-like 2							126.0	132.0	130.0					4																	65170940		2203	4298	6501	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65170940C>A	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.674G>T	4.37:g.65170940C>A	ENSP00000370607:p.Trp225Leu					TECRL_uc003hcw.2_Missense_Mutation_p.W225L	p.W225L	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			7	783	-			225			Helical; (Potential).			Missense_Mutation	SNP	ENST00000381210.3	37	c.674G>T	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.831159	0.71258	.	.	ENSG00000205678	ENST00000507440;ENST00000381210	T;T	0.28895	1.59;1.59	5.21	5.21	0.72293	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.63815	0.2543	M	0.91300	3.195	0.58432	D	0.999999	D;D	0.69078	0.996;0.997	D;D	0.78314	0.991;0.953	T	0.72424	-0.4298	10	0.66056	D	0.02	-8.3347	15.4716	0.75443	0.0:1.0:0.0:0.0	.	225;225	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	L	225	ENSP00000426043:W225L;ENSP00000370607:W225L	ENSP00000370607:W225L	W	-	2	0	TECRL	64853535	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	6.228000	0.72288	2.417000	0.82017	0.585000	0.79938	TGG		0.308	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4		NM_001010874		6	115	1	0	0.00116845	0.021553	0.0011906	6	115		
EXOSC9	5393	broad.mit.edu	37	4	122723018	122723018	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:122723018A>T	ENST00000243498.5	+	2	211	c.103A>T	c.(103-105)Atc>Ttc	p.I35F	EXOSC9_ENST00000512454.1_Missense_Mutation_p.I19F|EXOSC9_ENST00000379663.3_Missense_Mutation_p.I35F|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	35	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTATAGGAACATCAGGATCTC	0.368																																						uc003iea.2		NaN																	0					0						c.(103-105)ATC>TTC		exosome component 9 isoform 2							118.0	105.0	110.0					4																	122723018		2203	4300	6503	SO:0001583	missense	5393				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr4:122723018A>T	M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.103A>T	4.37:g.122723018A>T	ENSP00000243498:p.Ile35Phe					EXOSC9_uc003idz.2_Missense_Mutation_p.I35F|EXOSC9_uc003ieb.2_Missense_Mutation_p.I19F|EXOSC9_uc010inp.1_5'Flank	p.I35F	NM_005033	NP_005024	Q06265	EXOS9_HUMAN			2	211	+			35			ARE binding.		Q12883|Q4W5P5|Q86Y41|Q86Y48	Missense_Mutation	SNP	ENST00000243498.5	37	c.103A>T	CCDS3722.2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446494	0.84101	.	.	ENSG00000123737	ENST00000243498;ENST00000379663;ENST00000509800;ENST00000512454	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.61	3.03	0.35002	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.048523	0.85682	D	0.000000	T	0.72898	0.3518	M	0.62209	1.925	0.80722	D	1	D;D;D	0.67145	0.996;0.992;0.965	P;P;P	0.60068	0.868;0.826;0.704	T	0.71431	-0.4595	10	0.72032	D	0.01	-41.3204	7.8155	0.29256	0.6019:0.269:0.0:0.1291	.	19;35;35	D6RIY6;Q06265;Q06265-2	.;EXOS9_HUMAN;.	F	35;35;35;19	ENSP00000243498:I35F;ENSP00000368984:I35F;ENSP00000422205:I35F;ENSP00000425782:I19F	ENSP00000243498:I35F	I	+	1	0	EXOSC9	122942468	1.000000	0.71417	0.912000	0.35992	0.995000	0.86356	2.186000	0.42593	0.345000	0.23873	0.528000	0.53228	ATC		0.368	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033		31	51	0	0	0	0.059317	0	31	51		
FAT4	79633	broad.mit.edu	37	4	126241857	126241857	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:126241857G>C	ENST00000394329.3	+	1	4304	c.4291G>C	c.(4291-4293)Gag>Cag	p.E1431Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1431	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCTATTGTTGAGAACATTCC	0.423																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(4291-4293)GAG>CAG		FAT tumor suppressor homolog 4 precursor							147.0	136.0	140.0					4																	126241857		1890	4117	6007	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241857G>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4291G>C	4.37:g.126241857G>C	ENSP00000377862:p.Glu1431Gln						p.E1431Q	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			1	4291	+			1431			Cadherin 14.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.4291G>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514491	0.85389	.	.	ENSG00000196159	ENST00000394329	T	0.75938	-0.98	4.87	4.87	0.63330	Cadherin (3);Cadherin-like (1);	0.000000	0.34676	U	0.003761	D	0.88043	0.6331	H	0.94964	3.605	0.80722	D	1	P	0.44816	0.844	P	0.53593	0.73	D	0.90987	0.4832	10	0.62326	D	0.03	.	18.1883	0.89799	0.0:0.0:1.0:0.0	.	1431	Q6V0I7	FAT4_HUMAN	Q	1431	ENSP00000377862:E1431Q	ENSP00000377862:E1431Q	E	+	1	0	FAT4	126461307	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	9.454000	0.97621	2.535000	0.85469	0.655000	0.94253	GAG		0.423	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		12	154	0	0	0	0.010729	0	12	154		
ADAM29	11086	broad.mit.edu	37	4	175896928	175896928	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:175896928A>T	ENST00000359240.3	+	5	922	c.252A>T	c.(250-252)acA>acT	p.T84T	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Silent_p.T84T|ADAM29_ENST00000445694.1_Silent_p.T84T|ADAM29_ENST00000404450.4_Silent_p.T84T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	84					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCACCTACACAGACCAGGGTG	0.478																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2		NaN																	0				skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(250-252)ACA>ACT		ADAM metallopeptidase domain 29 preproprotein							47.0	47.0	47.0					4																	175896928		2203	4300	6503	SO:0001819	synonymous_variant	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175896928A>T	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.252A>T	4.37:g.175896928A>T						ADAM29_uc003iud.2_Silent_p.T84T|ADAM29_uc010irr.2_Silent_p.T84T|ADAM29_uc011cki.1_Silent_p.T84T	p.T84T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	922	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	84					Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Silent	SNP	ENST00000359240.3	37	c.252A>T	CCDS3823.1																																																																																				0.478	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding					20	38	0	0	0	0.049695	0	20	38		
MTNR1A	4543	broad.mit.edu	37	4	187455151	187455151	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr4:187455151T>C	ENST00000307161.5	-	2	946	c.745A>G	c.(745-747)Att>Gtt	p.I249V	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	249					circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|mating behavior (GO:0007617)|positive regulation of cGMP biosynthetic process (GO:0030828)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	hormone binding (GO:0042562)|melatonin receptor activity (GO:0008502)|organic cyclic compound binding (GO:0097159)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	GCCCAGCAAATGGCAAAAAGG	0.527																																						uc003izd.1		NaN																	0				ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5						c.(745-747)ATT>GTT		melatonin receptor 1A	Melatonin(DB01065)|Ramelteon(DB00980)						107.0	114.0	112.0					4																	187455151		2203	4300	6503	SO:0001583	missense	4543				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	g.chr4:187455151T>C		CCDS3848.1	4q35	2012-08-08				ENSG00000168412		"""GPCR / Class A : Melatonin receptors"""	7463	protein-coding gene	gene with protein product		600665				7558006	Standard	NM_005958		Approved	MEL-1A-R	uc003izd.1	P48039		ENST00000307161.5:c.745A>G	4.37:g.187455151T>C	ENSP00000302811:p.Ile249Val						p.I249V	NM_005958	NP_005949	P48039	MTR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	2	763	-		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)	249			Helical; Name=6; (Potential).		A0AVC5|B0M0L2	Missense_Mutation	SNP	ENST00000307161.5	37	c.745A>G	CCDS3848.1	.	.	.	.	.	.	.	.	.	.	T	0.055	-1.238298	0.01493	.	.	ENSG00000168412	ENST00000307161	T	0.37058	1.22	4.96	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.207171	0.41500	D	0.000862	T	0.11196	0.0273	N	0.03930	-0.32	0.31894	N	0.616822	B	0.02656	0.0	B	0.11329	0.006	T	0.35968	-0.9767	10	0.02654	T	1	-11.2297	5.3397	0.15976	0.0:0.2957:0.4301:0.2742	.	249	P48039	MTR1A_HUMAN	V	249	ENSP00000302811:I249V	ENSP00000302811:I249V	I	-	1	0	MTNR1A	187692145	0.978000	0.34361	0.999000	0.59377	0.478000	0.33099	0.732000	0.26072	0.216000	0.20781	-0.274000	0.10170	ATT		0.527	MTNR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360189.1				51	109	0	0	0	0.048971	0	51	109		
DNAH5	1767	broad.mit.edu	37	5	13766144	13766144	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:13766144G>A	ENST00000265104.4	-	59	10146	c.10042C>T	c.(10042-10044)Ccc>Tcc	p.P3348S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3348	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCCAGGAGGGCATGGTACAG	0.468									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10042-10044)CCC>TCC		dynein, axonemal, heavy chain 5							129.0	125.0	127.0					5																	13766144		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766144G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10042C>T	5.37:g.13766144G>A	ENSP00000265104:p.Pro3348Ser					DNAH5_uc003jfc.2_5'UTR	p.P3348S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10084	-	Lung NSC(4;0.00476)		3348			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10042C>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285028	0.40394	.	.	ENSG00000039139	ENST00000265104	T	0.56611	0.45	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.167211	0.53938	D	0.000059	T	0.65302	0.2678	M	0.88241	2.94	0.80722	D	1	B	0.15930	0.015	B	0.28139	0.086	T	0.63739	-0.6569	10	0.34782	T	0.22	.	19.7357	0.96202	0.0:0.0:1.0:0.0	.	3348	Q8TE73	DYH5_HUMAN	S	3348	ENSP00000265104:P3348S	ENSP00000265104:P3348S	P	-	1	0	DNAH5	13819144	1.000000	0.71417	0.808000	0.32385	0.340000	0.28889	7.767000	0.85331	2.660000	0.90430	0.558000	0.71614	CCC		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		8	147	0	0	0	0.038147	0	8	147		
NPR3	4883	broad.mit.edu	37	5	32786414	32786414	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:32786414G>A	ENST00000265074.8	+	8	1932	c.1589G>A	c.(1588-1590)cGg>cAg	p.R530Q	NPR3_ENST00000415167.2_Missense_Mutation_p.R529Q|NPR3_ENST00000415685.2_Missense_Mutation_p.R313Q|AC026703.1_ENST00000326958.1_5'Flank|NPR3_ENST00000434067.2_Missense_Mutation_p.R314Q	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	530					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGGAATTACGGGAAGATTCC	0.418																																						uc003jhv.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1588-1590)CGG>CAG		natriuretic peptide receptor C/guanylate cyclase	Nesiritide(DB04899)						81.0	74.0	76.0					5																	32786414		1823	4083	5906	SO:0001583	missense	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32786414G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1589G>A	5.37:g.32786414G>A	ENSP00000265074:p.Arg530Gln					NPR3_uc011cnz.1_Missense_Mutation_p.R313Q|NPR3_uc003jhu.2_Missense_Mutation_p.R529Q|C5orf23_uc003jhw.1_5'Flank	p.R530Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN			8	1807	+			530			Cytoplasmic (Potential).		A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.1589G>A	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.036462	0.93630	.	.	ENSG00000113389	ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	L	0.27053	0.805	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.51818	-0.8657	10	0.33141	T	0.24	-24.2315	20.8794	0.99867	0.0:0.0:1.0:0.0	.	313;530;529	E7EPG9;P17342;Q60I31	.;ANPRC_HUMAN;.	Q	314;313;530;529	ENSP00000388408:R314Q;ENSP00000402490:R313Q;ENSP00000265074:R530Q;ENSP00000398028:R529Q	ENSP00000265074:R530Q	R	+	2	0	NPR3	32822171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.443000	0.90320	2.941000	0.99782	0.655000	0.94253	CGG		0.418	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3		NM_000908		7	13	0	0	0	0.038147	0	7	13		
ADAMTS12	81792	broad.mit.edu	37	5	33576479	33576479	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576479C>G	ENST00000504830.1	-	19	3987	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1133Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1218	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGCAGTCCTTCCATTACTGTG	0.542										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3652-3654)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							150.0	142.0	144.0					5																	33576479		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576479C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3652G>C	5.37:g.33576479C>G	ENSP00000422554:p.Glu1218Gln	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1133Q	p.E1218Q	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3815	-			1218			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3652G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	4.660	0.122708	0.08931	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.21;0.21	5.18	3.37	0.38596	.	0.913737	0.09499	N	0.793893	T	0.41926	0.1180	L	0.29908	0.895	0.20196	N	0.99993	B;B	0.18166	0.026;0.008	B;B	0.16289	0.015;0.007	T	0.28964	-1.0027	10	0.14252	T	0.57	.	7.5766	0.27939	0.0:0.6975:0.1454:0.1571	.	1133;1218	P58397-3;P58397	.;ATS12_HUMAN	Q	1218;1133	ENSP00000422554:E1218Q;ENSP00000344847:E1133Q	ENSP00000344847:E1133Q	E	-	1	0	ADAMTS12	33612236	0.356000	0.24930	0.153000	0.22517	0.190000	0.23558	0.585000	0.23879	0.714000	0.32081	0.655000	0.94253	GAA		0.542	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		9	145	0	0	0	0.047766	0	9	145		
ADAMTS12	81792	broad.mit.edu	37	5	33576554	33576554	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33576554C>G	ENST00000504830.1	-	19	3912	c.3577G>C	c.(3577-3579)Gaa>Caa	p.E1193Q	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1108Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1193	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E1193K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTGGCATTTCTGTACTTTCC	0.512										HNSCC(64;0.19)																												uc003jia.1		NaN																	1	Substitution - Missense(1)		skin(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3577-3579)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							201.0	184.0	190.0					5																	33576554		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576554C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3577G>C	5.37:g.33576554C>G	ENSP00000422554:p.Glu1193Gln	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.E1108Q	p.E1193Q	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3740	-			1193			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3577G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	8.643	0.896423	0.17686	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60548	0.2;0.18	5.28	3.28	0.37604	.	0.801903	0.12132	N	0.496694	T	0.40670	0.1126	L	0.34521	1.04	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.18561	0.022;0.01	T	0.22208	-1.0223	10	0.16896	T	0.51	.	5.0983	0.14745	0.0:0.5661:0.1676:0.2663	.	1108;1193	P58397-3;P58397	.;ATS12_HUMAN	Q	1193;1108	ENSP00000422554:E1193Q;ENSP00000344847:E1108Q	ENSP00000344847:E1108Q	E	-	1	0	ADAMTS12	33612311	0.001000	0.12720	0.132000	0.22025	0.927000	0.56198	0.401000	0.20948	1.363000	0.46019	0.655000	0.94253	GAA		0.512	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		16	140	0	0	0	0.043863	0	16	140		
ADAMTS12	81792	broad.mit.edu	37	5	33881544	33881544	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:33881544G>T	ENST00000504830.1	-	2	504	c.169C>A	c.(169-171)Cca>Aca	p.P57T	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.P57T|ADAMTS12_ENST00000515401.1_Missense_Mutation_p.P57T	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	57					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACTCGGACTGGACCCACCACG	0.488										HNSCC(64;0.19)																												uc003jia.1		NaN																	0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(169-171)CCA>ACA		ADAM metallopeptidase with thrombospondin type 1							113.0	117.0	116.0					5																	33881544		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33881544G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.169C>A	5.37:g.33881544G>T	ENSP00000422554:p.Pro57Thr	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.P57T|ADAMTS12_uc003jib.1_Missense_Mutation_p.P57T	p.P57T	NM_030955	NP_112217	P58397	ATS12_HUMAN			2	332	-			57					A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.169C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247364	0.59103	.	.	ENSG00000151388	ENST00000504830;ENST00000352040;ENST00000515401	T;T;T	0.12879	2.64;2.64;2.64	5.51	5.51	0.81932	Peptidase M12B, propeptide (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.83774	2.66	0.50813	D	0.99989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.45862	-0.9232	10	0.87932	D	0	.	19.4212	0.94721	0.0:0.0:1.0:0.0	.	57;57;57	P58397-3;D6REX0;P58397	.;.;ATS12_HUMAN	T	57	ENSP00000422554:P57T;ENSP00000344847:P57T;ENSP00000421638:P57T	ENSP00000344847:P57T	P	-	1	0	ADAMTS12	33917301	1.000000	0.71417	0.918000	0.36340	0.224000	0.24922	7.168000	0.77570	2.582000	0.87167	0.467000	0.42956	CCA		0.488	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		12	213	1	0	6.40141e-05	0.010729	6.55383e-05	12	213		
PARP8	79668	broad.mit.edu	37	5	50074470	50074470	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:50074470A>G	ENST00000281631.5	+	9	814	c.656A>G	c.(655-657)tAt>tGt	p.Y219C	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.Y219C|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000503750.2_Missense_Mutation_p.Y219C|PARP8_ENST00000505554.1_Missense_Mutation_p.Y198C|PARP8_ENST00000505697.2_Missense_Mutation_p.Y219C	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	219						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CTTACACAGTATTTAAATGGC	0.333																																						uc003jon.3		NaN																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(655-657)TAT>TGT		poly (ADP-ribose) polymerase family, member 8							39.0	42.0	41.0					5																	50074470		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50074470A>G	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.656A>G	5.37:g.50074470A>G	ENSP00000281631:p.Tyr219Cys					PARP8_uc011cpz.1_Missense_Mutation_p.Y111C|PARP8_uc003joo.2_Missense_Mutation_p.Y219C|PARP8_uc003jop.2_Missense_Mutation_p.Y219C	p.Y219C	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			10	838	+		Lung NSC(810;0.0305)|Breast(144;0.222)	219					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.656A>G	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.490865	0.64074	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.99;0.993;0.99	T	0.67369	-0.5688	8	.	.	.	-17.2333	14.2659	0.66118	1.0:0.0:0.0:0.0	.	111;219;219	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	C	219;219;219;219;198	.	.	Y	+	2	0	PARP8	50110227	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	8.199000	0.89731	2.302000	0.77476	0.533000	0.62120	TAT		0.333	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615		4	22	0	0	0	0.009096	0	4	22		
ANKRD55	79722	broad.mit.edu	37	5	55422846	55422846	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:55422846A>G	ENST00000341048.4	-	8	851	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	ANKRD55_ENST00000504958.2_Missense_Mutation_p.C191R|RNU6-299P_ENST00000517223.1_RNA|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	234										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATATGTACACATGTCTTCCCA	0.498																																						uc003jqu.2		NaN																	0				skin(1)	1						c.(700-702)TGT>CGT		ankyrin repeat domain 55 isoform 1							135.0	127.0	130.0					5																	55422846		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55422846A>G	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.700T>C	5.37:g.55422846A>G	ENSP00000342295:p.Cys234Arg						p.C234R	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN			8	852	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	233			ANK 7.		B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.700T>C	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360420	0.41801	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958	T;T	0.52754	2.45;0.65	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69522	-0.5123	10	0.56958	D	0.05	.	15.8326	0.78769	1.0:0.0:0.0:0.0	.	234	B3KVT8	.	R	234;234;191	ENSP00000342295:C234R;ENSP00000424230:C191R	ENSP00000342295:C234R	C	-	1	0	ANKRD55	55458603	1.000000	0.71417	0.216000	0.23742	0.069000	0.16628	7.662000	0.83803	2.146000	0.66826	0.460000	0.39030	TGT		0.498	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669		60	122	0	0	0	0.048971	0	60	122		
ADAMTS6	11174	broad.mit.edu	37	5	64447760	64447760	+	5'UTR	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:64447760A>G	ENST00000314351.5	-	0	916							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACTTTATTCACATCTTTGCA	0.458																																						uc003jtp.2		NaN																	0					0						c.(3256-3258)GTG>GCG		ADAM metallopeptidase with thrombospondin type 1							110.0	107.0	108.0					5																	64447760		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:64447760A>G	AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-406T>C	5.37:g.64447760A>G						ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA	p.V1086A	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN		Lung(70;0.00942)	25	4071	-		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)	1086			PLAC.		Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	ENST00000314351.5	37	c.3257T>C		.	.	.	.	.	.	.	.	.	.	A	17.39	3.377947	0.61735	.	.	ENSG00000049192	ENST00000381055	T	0.38560	1.13	5.65	5.65	0.86999	PLAC (2);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	N	0.22421	0.69	0.80722	D	1	P	0.49307	0.922	P	0.48598	0.583	T	0.09487	-1.0672	10	0.28530	T	0.3	.	16.0399	0.80667	1.0:0.0:0.0:0.0	.	1086	Q9UKP5	ATS6_HUMAN	A	1086	ENSP00000370443:V1086A	ENSP00000370443:V1086A	V	-	2	0	ADAMTS6	64483516	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.761000	0.91691	2.371000	0.80710	0.533000	0.62120	GTG		0.458	ADAMTS6-006	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000157334.2		NM_197941		30	52	0	0	0	0.030593	0	30	52		
POLK	51426	broad.mit.edu	37	5	74880637	74880637	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:74880637T>C	ENST00000241436.4	+	9	1284	c.1112T>C	c.(1111-1113)aTt>aCt	p.I371T	POLK_ENST00000515295.1_Missense_Mutation_p.I371T|POLK_ENST00000380481.3_Missense_Mutation_p.I281T|POLK_ENST00000504026.1_Missense_Mutation_p.I371T|POLK_ENST00000352007.5_Intron|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	371					DNA repair (GO:0006281)|nucleotide-excision repair, DNA gap filling (GO:0006297)	nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CTTGGAATTATTACATGTACA	0.333								DNA polymerases (catalytic subunits)																														uc003kdw.2		NaN																	0				ovary(2)|kidney(2)	4						c.(1111-1113)ATT>ACT	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA-directed DNA polymerase kappa							136.0	137.0	137.0					5																	74880637		2203	4300	6503	SO:0001583	missense	51426				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr5:74880637T>C	AB027564	CCDS4030.1	5q13	2012-05-18			ENSG00000122008	ENSG00000122008		"""DNA polymerases"""	9183	protein-coding gene	gene with protein product	"""polymerase (DNA-directed) kappa"", ""DINB protein"", ""DNA polymerase kappa"""	605650		DINB1		10887153, 10518552	Standard	NM_016218		Approved	POLQ, DINP	uc003kdw.3	Q9UBT6	OTTHUMG00000102107	ENST00000241436.4:c.1112T>C	5.37:g.74880637T>C	ENSP00000241436:p.Ile371Thr					POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003keb.2_Missense_Mutation_p.I371T|POLK_uc010izq.2_Intron|POLK_uc003kec.2_Missense_Mutation_p.I281T|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.I281T|POLK_uc003kee.2_Missense_Mutation_p.I371T|POLK_uc003kef.2_Missense_Mutation_p.I281T	p.I371T	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)	9	1208	+		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)	371					B2RBD2|Q5Q9G5|Q5Q9G6|Q5Q9G7|Q5Q9G8|Q86VJ8|Q8IZY0|Q8IZY1|Q8NB30|Q96L01|Q96Q86|Q96Q87|Q9UHC5	Missense_Mutation	SNP	ENST00000241436.4	37	c.1112T>C	CCDS4030.1	.	.	.	.	.	.	.	.	.	.	T	3.407	-0.120963	0.06838	.	.	ENSG00000122008	ENST00000241436;ENST00000515295;ENST00000504026;ENST00000380481	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.4	3.01	0.34805	.	0.485335	0.24010	N	0.042387	T	0.36386	0.0965	N	0.03253	-0.375	0.24824	N	0.992564	B;B;B	0.14012	0.0;0.001;0.009	B;B;B	0.14023	0.001;0.01;0.01	T	0.19811	-1.0294	10	0.08381	T	0.77	-4.42	9.2546	0.37575	0.0:0.1471:0.0:0.8529	.	371;371;371	Q5Q9G5;Q9UBT6-2;Q9UBT6	.;.;POLK_HUMAN	T	371;371;371;281	ENSP00000241436:I371T;ENSP00000424174:I371T;ENSP00000425075:I371T;ENSP00000369848:I281T	ENSP00000241436:I371T	I	+	2	0	POLK	74916393	0.827000	0.29292	1.000000	0.80357	0.897000	0.52465	1.080000	0.30779	0.998000	0.38996	0.402000	0.26972	ATT		0.333	POLK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219945.3		NM_016218		23	33	0	0	0	0.062417	0	23	33		
CHD1	1105	broad.mit.edu	37	5	98232075	98232075	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:98232075T>C	ENST00000284049.3	-	11	1714	c.1565A>G	c.(1564-1566)tAt>tGt	p.Y522C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	522	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATGAAACAAATAATTCAGAAA	0.363																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(1564-1566)TAT>TGT		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						90.0	95.0	93.0					5																	98232075		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98232075T>C	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1565A>G	5.37:g.98232075T>C	ENSP00000284049:p.Tyr522Cys						p.Y522C	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	11	1713	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	522			Helicase ATP-binding.		Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.1565A>G	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.104591	0.77096	.	.	ENSG00000153922	ENST00000284049	D	0.93426	-3.22	5.12	5.12	0.69794	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.31233	U	0.008011	D	0.96259	0.8780	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96757	0.9558	10	0.72032	D	0.01	.	15.2078	0.73192	0.0:0.0:0.0:1.0	.	522	O14646	CHD1_HUMAN	C	522	ENSP00000284049:Y522C	ENSP00000284049:Y522C	Y	-	2	0	CHD1	98259975	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.791000	0.62460	2.052000	0.61016	0.477000	0.44152	TAT		0.363	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		6	75	0	0	0	0.021553	0	6	75		
MEGF10	84466	broad.mit.edu	37	5	126732390	126732390	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:126732390G>A	ENST00000274473.6	+	7	846	c.579G>A	c.(577-579)caG>caA	p.Q193Q	MEGF10_ENST00000503335.2_Silent_p.Q193Q|MEGF10_ENST00000508365.1_Silent_p.Q193Q|MEGF10_ENST00000418761.2_Silent_p.Q193Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	193	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ACTGTCATCAGAGATGCCAGT	0.642																																						uc003kuh.3		NaN																	0				ovary(4)	4						c.(577-579)CAG>CAA		multiple EGF-like-domains 10 precursor							53.0	55.0	54.0					5																	126732390		2203	4300	6503	SO:0001819	synonymous_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126732390G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.579G>A	5.37:g.126732390G>A						MEGF10_uc010jdc.1_Silent_p.Q193Q|MEGF10_uc010jdd.1_Silent_p.Q193Q|MEGF10_uc003kui.3_Silent_p.Q193Q	p.Q193Q	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	7	941	+		Prostate(80;0.165)	193			Extracellular (Potential).|EGF-like 3.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Silent	SNP	ENST00000274473.6	37	c.579G>A	CCDS4142.1																																																																																				0.642	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446		56	80	0	0	0	0.048971	0	56	80		
FNIP1	96459	broad.mit.edu	37	5	131006321	131006321	+	Silent	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:131006321T>C	ENST00000510461.1	-	15	3038	c.2943A>G	c.(2941-2943)tcA>tcG	p.S981S	FNIP1_ENST00000307954.8_Silent_p.S936S|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307968.7_Silent_p.S953S	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	981					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CGATTAACTTTGACCTGGAAG	0.373																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(2941-2943)TCA>TCG		folliculin interacting protein 1 isoform 1							84.0	84.0	84.0					5																	131006321		2203	4300	6503	SO:0001819	synonymous_variant	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131006321T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2943A>G	5.37:g.131006321T>C						RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Silent_p.S953S	p.S981S	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	15	3085	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	981					D6RJH5|Q86T47|Q9BUT0	Silent	SNP	ENST00000510461.1	37	c.2943A>G	CCDS34227.1																																																																																				0.373	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		43	60	0	0	0	0.033182	0	43	60		
PCDHA2	56146	broad.mit.edu	37	5	140175218	140175218	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140175218G>A	ENST00000526136.1	+	1	669	c.669G>A	c.(667-669)acG>acA	p.T223T	PCDHA2_ENST00000520672.2_Silent_p.T223T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.T223T	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	223	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAGCTCACGGGCACCGTTC	0.418																																						uc003lhd.2		NaN																	0				ovary(4)	4						c.(667-669)ACG>ACA		protocadherin alpha 2 isoform 1 precursor							80.0	90.0	86.0					5																	140175218		2202	4300	6502	SO:0001819	synonymous_variant	56146				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140175218G>A	AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.669G>A	5.37:g.140175218G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.T223T|PCDHA2_uc011czy.1_Silent_p.T223T	p.T223T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	775	+			223			Extracellular (Potential).|Cadherin 2.		O75287|Q9BTV3	Silent	SNP	ENST00000526136.1	37	c.669G>A	CCDS54914.1																																																																																				0.418	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372877.3		NM_018905		64	72	0	0	0	0.048971	0	64	72		
PCDHA8	56140	broad.mit.edu	37	5	140221088	140221088	+	Missense_Mutation	SNP	C	C	A	rs376513525	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140221088C>A	ENST00000531613.1	+	1	182	c.182C>A	c.(181-183)cCg>cAg	p.P61Q	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P61Q|PCDHA6_ENST00000529310.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	61	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGCGCCTGTTC	0.637													.|||	3	0.000599042	0.0	0.0	5008	,	,		16976	0.003		0.0	False		,,,				2504	0.0					uc003lhs.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(181-183)CCG>CAG		protocadherin alpha 8 isoform 1 precursor		C	,,,,,,,GLN/PRO,,,GLN/PRO	0,4406		0,0,2203	38.0	50.0	46.0		,,,,,,,182,,,182	4.0	1.0	5		46	1,8591		0,1,4295	no	intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,missense	PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031856.1	,,,,,,,76,,,76	0,1,6498	AA,AC,CC		0.0116,0.0,0.0077	,,,,,,,,,,	,,,,,,,61/951,,,61/815	140221088	1,12997	2203	4296	6499	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140221088C>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.182C>A	5.37:g.140221088C>A	ENSP00000434655:p.Pro61Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P61Q	p.P61Q	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	182	+			61			Cadherin 1.|Extracellular (Potential).		B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.182C>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710280	0.48517	0.0	1.16E-4	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.26067	1.76;1.76	3.95	3.95	0.45737	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.226637	0.22037	U	0.065506	T	0.28532	0.0706	M	0.62723	1.935	0.09310	N	1	P;P	0.42871	0.719;0.792	B;B	0.37508	0.252;0.224	T	0.29305	-1.0016	10	0.62326	D	0.03	.	16.3451	0.83120	0.0:1.0:0.0:0.0	.	61;61	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	Q	61	ENSP00000434655:P61Q;ENSP00000367363:P61Q	ENSP00000367363:P61Q	P	+	2	0	PCDHA8	140201272	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	-0.108000	0.10857	1.905000	0.55150	0.557000	0.71058	CCG		0.637	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2		NM_018911		100	149	1	0	6.00419e-47	0.048971	6.97784e-47	100	149		
PCDHGA3	56112	broad.mit.edu	37	5	140725934	140725934	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140725934G>A	ENST00000253812.6	+	1	2334	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	778					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.522																																						uc003ljm.1		NaN																	0				breast(1)	1						c.(2332-2334)ACG>ACA		protocadherin gamma subfamily A, 3 isoform 1							74.0	83.0	80.0					5																	140725934		2202	4300	6502	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725934G>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2334G>A	5.37:g.140725934G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T538T|PCDHGA3_uc011dap.1_Silent_p.T778T	p.T778T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2334	+			778			Cytoplasmic (Potential).		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.2334G>A	CCDS47290.1																																																																																				0.522	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1		NM_018916		14	207	0	0	0	0.016723	0	14	207		
PCDHGB2	56103	broad.mit.edu	37	5	140740651	140740651	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:140740651C>G	ENST00000522605.1	+	1	949	c.949C>G	c.(949-951)Ctg>Gtg	p.L317V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	317	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTTACACTCTGAGTATCGA	0.388																																						uc003ljs.1		NaN																	0					0						c.(949-951)CTG>GTG		protocadherin gamma subfamily B, 2 isoform 1							59.0	57.0	58.0					5																	140740651		1954	4145	6099	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140740651C>G	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.949C>G	5.37:g.140740651C>G	ENSP00000429018:p.Leu317Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc011dar.1_Missense_Mutation_p.L317V	p.L317V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	949	+			317			Extracellular (Potential).|Cadherin 3.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.949C>G	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	0.770	-0.766164	0.02974	.	.	ENSG00000253910	ENST00000522605	T	0.36520	1.25	5.54	1.46	0.22682	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33904	0.0879	L	0.55990	1.75	0.09310	N	1	B;P	0.41159	0.093;0.74	B;P	0.44673	0.099;0.457	T	0.15178	-1.0446	9	0.35671	T	0.21	.	4.4431	0.11584	0.3732:0.4116:0.0:0.2153	.	317;317	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	317	ENSP00000429018:L317V	ENSP00000429018:L317V	L	+	1	2	PCDHGB2	140720835	0.000000	0.05858	0.020000	0.16555	0.001000	0.01503	-2.293000	0.01145	0.363000	0.24346	-0.140000	0.14226	CTG		0.388	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1		NM_018923		4	35	0	0	0	0.009096	0	4	35		
SPRY4	81848	broad.mit.edu	37	5	141694316	141694316	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:141694316C>A	ENST00000434127.2	-	2	601	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Missense_Mutation_p.V143L	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	120					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTCAGCCACGGGTGGTGGT	0.662									Testicular Cancer, Familial Clustering of																													uc003lml.2		NaN																	0				ovary(1)|lung(1)	2						c.(358-360)GTG>TTG		sprouty homolog 4 isoform 2							61.0	70.0	67.0					5																	141694316		2203	4300	6503	SO:0001583	missense	81848	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694316C>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.358G>T	5.37:g.141694316C>A	ENSP00000399468:p.Val120Leu					SPRY4_uc010jgi.1_Missense_Mutation_p.V143L	p.V120L	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	617	-		all_hematologic(541;0.118)	120					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	c.358G>T	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795075	0.31777	.	.	ENSG00000187678	ENST00000344120;ENST00000434127	T;T	0.63913	-0.07;-0.07	5.77	4.9	0.64082	.	0.205153	0.42548	D	0.000694	T	0.54382	0.1855	L	0.50333	1.59	0.51012	D	0.999903	B	0.16603	0.018	B	0.15484	0.013	T	0.50346	-0.8839	10	0.12430	T	0.62	-10.0227	14.725	0.69339	0.0:0.9304:0.0:0.0696	.	120	Q9C004	SPY4_HUMAN	L	143;120	ENSP00000344967:V143L;ENSP00000399468:V120L	ENSP00000344967:V143L	V	-	1	0	SPRY4	141674500	0.928000	0.31464	0.785000	0.31869	0.385000	0.30292	1.899000	0.39818	1.446000	0.47643	0.561000	0.74099	GTG		0.662	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1				57	94	1	0	2.73381e-35	0.048971	3.12643e-35	57	94		
RBM22	55696	broad.mit.edu	37	5	150075243	150075243	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:150075243C>T	ENST00000199814.4	-	7	692	c.571G>A	c.(571-573)Gac>Aac	p.D191N	RBM22_ENST00000540000.1_Missense_Mutation_p.D142N|RBM22_ENST00000447771.2_Missense_Mutation_p.D142N	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	191					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAGGGGGTCATCTGGATCT	0.413																																						uc003lst.2		NaN																	0					0						c.(571-573)GAC>AAC		RNA binding motif protein 22							77.0	73.0	74.0					5																	150075243		2203	4300	6503	SO:0001583	missense	55696				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding	g.chr5:150075243C>T	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.571G>A	5.37:g.150075243C>T	ENSP00000199814:p.Asp191Asn						p.D191N	NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		7	693	-		Medulloblastoma(196;0.167)	191					A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	c.571G>A	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	C	36	5.644280	0.96704	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	T;T;T	0.14766	2.48;2.48;2.48	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.25121	0.0610	M	0.63843	1.955	0.80722	D	1	D	0.55800	0.973	P	0.49528	0.614	T	0.00998	-1.1486	10	0.26408	T	0.33	-30.5019	19.3344	0.94309	0.0:1.0:0.0:0.0	.	191	Q9NW64	RBM22_HUMAN	N	191;142;142	ENSP00000199814:D191N;ENSP00000441594:D142N;ENSP00000412118:D142N	ENSP00000199814:D191N	D	-	1	0	RBM22	150055436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.729000	0.84864	2.572000	0.86782	0.561000	0.74099	GAC		0.413	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374431.2		NM_018047		8	52	0	0	0	0.058154	0	8	52		
SLU7	10569	broad.mit.edu	37	5	159835026	159835026	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:159835026C>A	ENST00000297151.4	-	9	1256	c.869G>T	c.(868-870)aGa>aTa	p.R290I		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	290					alternative mRNA splicing, via spliceosome (GO:0000380)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	pre-mRNA 3'-splice site binding (GO:0030628)|second spliceosomal transesterification activity (GO:0000386)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCATTGCTCTAGTTTTTGG	0.299																																						uc003lyg.2		NaN																	0				ovary(1)	1						c.(868-870)AGA>ATA		step II splicing factor SLU7							149.0	160.0	157.0					5																	159835026		2203	4299	6502	SO:0001583	missense	10569				alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding	g.chr5:159835026C>A	AF101074	CCDS4352.1	5q33.3	2010-04-13			ENSG00000164609	ENSG00000164609			16939	protein-coding gene	gene with protein product	zinc knuckle motif containing	605974				10197984, 15728250	Standard	NM_006425		Approved	9G8	uc003lyg.3	O95391	OTTHUMG00000130324	ENST00000297151.4:c.869G>T	5.37:g.159835026C>A	ENSP00000297151:p.Arg290Ile						p.R290I	NM_006425	NP_006416	O95391	SLU7_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1024	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	290					D3DQK2|Q3LUJ0|Q3LUJ1|Q6RXQ5|Q96FM9	Missense_Mutation	SNP	ENST00000297151.4	37	c.869G>T	CCDS4352.1	.	.	.	.	.	.	.	.	.	.	C	34	5.406276	0.96051	.	.	ENSG00000164609	ENST00000297151	T	0.69806	-0.43	6.16	6.16	0.99307	Pre-mRNA splicing Prp18-interacting factor (1);	0.000000	0.85682	D	0.000000	D	0.86477	0.5942	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87474	0.2416	10	0.87932	D	0	-8.1292	20.8598	0.99761	0.0:1.0:0.0:0.0	.	290	O95391	SLU7_HUMAN	I	290	ENSP00000297151:R290I	ENSP00000297151:R290I	R	-	2	0	SLU7	159767604	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.412000	0.80091	2.937000	0.99478	0.650000	0.86243	AGA		0.299	SLU7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252673.1		NM_006425		45	75	1	0	1.61863e-15	0.048971	1.73137e-15	45	75		
SLIT3	6586	broad.mit.edu	37	5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	rs143627388	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M|SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597													C|||	4	0.000798722	0.0008	0.0	5008	,	,		17290	0.0		0.003	False		,,,				2504	0.0				Ovarian(29;311 847 10864 17279 24903)	uc003mab.2		NaN																	0				ovary(3)|skin(1)	4						c.(757-759)GTG>ATG		slit homolog 3 precursor		C	MET/VAL	0,4406		0,0,2203	92.0	83.0	86.0		757	5.2	0.8	5	dbSNP_134	86	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLIT3	NM_003062.2	21	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	253/1524	168244341	2,13004	2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168244341C>T	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.757G>A	5.37:g.168244341C>T	ENSP00000430333:p.Val253Met					SLIT3_uc010jjg.2_Missense_Mutation_p.V253M|SLIT3_uc010jji.2_Missense_Mutation_p.V253M|SLIT3_uc003mac.1_Missense_Mutation_p.V50M	p.V253M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	1177	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	253			LRRCT 1.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.757G>A	CCDS4369.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	26.8	4.776189	0.90195	0.0	2.33E-4	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.77750	-1.12;-1.12;-1.11	5.25	5.25	0.73442	Cysteine-rich flanking region, C-terminal (2);	0.111348	0.64402	D	0.000012	D	0.89015	0.6595	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.985;0.986	D	0.90351	0.4366	10	0.87932	D	0	.	18.8657	0.92292	0.0:1.0:0.0:0.0	.	253;253;253	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	M	253	ENSP00000430333:V253M;ENSP00000332164:V253M;ENSP00000384890:V253M	ENSP00000332164:V253M	V	-	1	0	SLIT3	168176919	1.000000	0.71417	0.841000	0.33234	0.911000	0.54048	7.818000	0.86416	2.459000	0.83118	0.462000	0.41574	GTG		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062		8	91	0	0	0	0.038147	0	8	91		
NEDD9	4739	broad.mit.edu	37	6	11190347	11190347	+	Silent	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:11190347C>T	ENST00000379446.5	-	5	1921	c.1755G>A	c.(1753-1755)caG>caA	p.Q585Q	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.Q585Q	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	585					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCAGCTGTCCCTGGGAGCCAC	0.632																																						uc003mzv.2		NaN																	0					0						c.(1753-1755)CAG>CAA		neural precursor cell expressed, developmentally							69.0	65.0	67.0					6																	11190347		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11190347C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1755G>A	6.37:g.11190347C>T						NEDD9_uc010joz.2_Silent_p.Q585Q|NEDD9_uc003mzw.3_Silent_p.Q439Q	p.Q585Q	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		5	1922	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	585					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.1755G>A	CCDS4520.1																																																																																				0.632	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2		NM_006403		32	65	0	0	0	0.045705	0	32	65		
FAM65B	9750	broad.mit.edu	37	6	24850033	24850033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:24850033C>T	ENST00000259698.4	-	11	1119	c.944G>A	c.(943-945)tGg>tAg	p.W315*	FAM65B_ENST00000538035.1_Nonsense_Mutation_p.W344*|FAM65B_ENST00000510784.2_Nonsense_Mutation_p.W349*|FAM65B_ENST00000378023.4_Nonsense_Mutation_p.W315*|FAM65B_ENST00000540914.1_Nonsense_Mutation_p.W315*	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	315					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CACTTACTACCAGGTGATTTC	0.488																																						uc003neo.1		NaN																	0				ovary(1)	1						c.(943-945)TGG>TAG		hypothetical protein LOC9750 isoform 1							226.0	233.0	231.0					6																	24850033		2090	4246	6336	SO:0001587	stop_gained	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24850033C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.944G>A	6.37:g.24850033C>T	ENSP00000259698:p.Trp315*					FAM65B_uc011djs.1_Nonsense_Mutation_p.W344*|FAM65B_uc011dju.1_Nonsense_Mutation_p.W349*|FAM65B_uc003nep.2_Nonsense_Mutation_p.W315*|FAM65B_uc011djt.1_Nonsense_Mutation_p.W315*	p.W315*	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			11	1120	-			315					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Nonsense_Mutation	SNP	ENST00000259698.4	37	c.944G>A	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	38	7.113867	0.98074	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.6436	0.95767	0.0:1.0:0.0:0.0	.	.	.	.	X	315;344;315;315;349	.	ENSP00000259698:W315X	W	-	2	0	FAM65B	24958012	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.445000	0.80570	2.712000	0.92718	0.650000	0.86243	TGG		0.488	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2				27	374	0	0	0	0.024334	0	27	374		
HIST1H1C	3006	broad.mit.edu	37	6	26056507	26056507	+	Silent	SNP	G	G	A	rs150897775		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26056507G>A	ENST00000343677.2	-	1	192	c.150C>T	c.(148-150)gcC>gcT	p.A50A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	50	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCTCTTTAGAGGCGGCCACAG	0.567																																						uc003nfw.2		NaN																	0				ovary(3)|skin(2)	5						c.(148-150)GCC>GCT		histone cluster 1, H1c		G		1,4405		0,1,2202	60.0	69.0	66.0		150	-2.6	1.0	6	dbSNP_134	66	0,8600		0,0,4300	no	coding-synonymous	HIST1H1C	NM_005319.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		50/214	26056507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056507G>A	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.150C>T	6.37:g.26056507G>A							p.A50A	NM_005319	NP_005310	P16403	H12_HUMAN			1	193	-			50			H15.		A8K4I2	Silent	SNP	ENST00000343677.2	37	c.150C>T	CCDS4577.1																																																																																				0.567	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1		NM_005319		55	89	0	0	0	0.048971	0	55	89		
ABT1	29777	broad.mit.edu	37	6	26598817	26598817	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:26598817G>A	ENST00000274849.1	+	3	794	c.763G>A	c.(763-765)Gga>Aga	p.G255R		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	255					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						CAGGATCTTTGGAGCCCCGCC	0.662																																						uc003nii.2		NaN																	0				ovary(1)	1						c.(763-765)GGA>AGA		activator of basal transcription 1							21.0	24.0	23.0					6																	26598817		2187	4277	6464	SO:0001583	missense	29777				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleolus	DNA binding|nucleotide binding|protein binding|RNA binding|transcription coactivator activity	g.chr6:26598817G>A	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.763G>A	6.37:g.26598817G>A	ENSP00000274849:p.Gly255Arg						p.G255R	NM_013375	NP_037507	Q9ULW3	ABT1_HUMAN			3	794	+			255						Missense_Mutation	SNP	ENST00000274849.1	37	c.763G>A	CCDS4616.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309182	0.60414	.	.	ENSG00000146109	ENST00000274849	.	.	.	5.09	4.21	0.49690	.	0.209734	0.48286	D	0.000193	T	0.28995	0.0720	L	0.60455	1.87	0.31732	N	0.636917	P	0.36412	0.552	B	0.37650	0.255	T	0.24799	-1.0150	9	0.51188	T	0.08	-1.064	8.5409	0.33393	0.101:0.0:0.899:0.0	.	255	Q9ULW3	ABT1_HUMAN	R	255	.	ENSP00000274849:G255R	G	+	1	0	ABT1	26706796	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.994000	0.56994	2.741000	0.93983	0.655000	0.94253	GGA		0.662	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043698.1				26	41	0	0	0	0.024334	0	26	41		
GABBR1	2550	broad.mit.edu	37	6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R|GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	TAGAAAAGTCCCACGATGATT	0.527																																						uc003nmt.3		NaN																	0		p.G364G(1)		ovary(5)|liver(1)|skin(1)	7						c.(1090-1092)GGA>AGA		gamma-aminobutyric acid (GABA) B receptor 1	Baclofen(DB00181)|Progabide(DB00837)						59.0	62.0	61.0					6																	29589570		2203	4300	6503	SO:0001583	missense	2550				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29589570C>T	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1090G>A	6.37:g.29589570C>T	ENSP00000366233:p.Gly364Arg					GABBR1_uc003nmp.3_Missense_Mutation_p.G247R|GABBR1_uc003nms.3_Missense_Mutation_p.G247R|GABBR1_uc003nmu.3_Missense_Mutation_p.G302R|GABBR1_uc011dlr.1_Missense_Mutation_p.G187R|GABBR1_uc011dls.1_Missense_Mutation_p.G364R	p.G364R	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN			10	1426	-			364			Extracellular (Potential).		B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	c.1090G>A	CCDS4663.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.974923	0.92919	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.55	4.55	0.56014	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.91304	0.7258	M	0.90650	3.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	D	0.92872	0.6315	10	0.87932	D	0	-18.7639	14.8382	0.70201	0.0:1.0:0.0:0.0	.	364;302;364;247	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	R	247;364;302;247;364	ENSP00000348248:G247R;ENSP00000366176:G364R;ENSP00000366215:G302R;ENSP00000366211:G247R;ENSP00000366233:G364R	ENSP00000348248:G247R	G	-	1	0	GABBR1	29697549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.793000	0.75130	2.381000	0.81170	0.637000	0.83480	GGA		0.527	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3				43	54	0	0	0	0.048971	0	43	54		
PSORS1C1	170679	broad.mit.edu	37	6	31107475	31107475	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31107475G>A	ENST00000259881.9	+	6	514	c.225G>A	c.(223-225)caG>caA	p.Q75Q	PSORS1C1_ENST00000547221.1_Silent_p.Q27Q|PSORS1C2_ENST00000259845.4_5'Flank|PSORS1C1_ENST00000481450.2_Silent_p.Q12Q	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1	75										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CAGCCACCCAGGATGACTGCA	0.547																																						uc003nsl.1		NaN																	0				ovary(1)	1						c.(223-225)CAG>CAA		SEEK1 protein							99.0	78.0	86.0					6																	31107475		1511	2709	4220	SO:0001819	synonymous_variant	170679							g.chr6:31107475G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.225G>A	6.37:g.31107475G>A						PSORS1C1_uc010jsj.1_Silent_p.Q24Q|PSORS1C1_uc003nsn.1_RNA|PSORS1C2_uc003nso.3_5'Flank	p.Q75Q	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN			6	499	+			75					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.225G>A	CCDS34390.1																																																																																				0.547	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3		NM_014068		34	33	0	0	0	0.045705	0	34	33		
DDAH2	23564	broad.mit.edu	37	6	31696843	31696843	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31696843G>A	ENST00000375789.2	-	1	726	c.96C>T	c.(94-96)ggC>ggT	p.G32G	DDAH2_ENST00000375787.2_Silent_p.G32G|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375792.3_Silent_p.G32G			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	32					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	GAGCGGGAAGGCCAGCCCCCG	0.677																																						uc003nwp.2		NaN																	0					0						c.(94-96)GGC>GGT		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						71.0	57.0	62.0					6																	31696843		1510	2709	4219	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31696843G>A	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.96C>T	6.37:g.31696843G>A						DDAH2_uc003nwq.2_Silent_p.G32G	p.G32G	NM_013974	NP_039268	O95865	DDAH2_HUMAN			1	727	-			32					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.96C>T	CCDS4718.1																																																																																				0.677	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2				57	75	0	0	0	0.048971	0	57	75		
VARS	7407	broad.mit.edu	37	6	31750569	31750569	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:31750569G>A	ENST00000375663.3	-	15	2256	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	VARS_ENST00000444930.2_Intron|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	606					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCCCGTGCCGCTGCCCAACT	0.607																																						uc003nxe.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1816-1818)CGG>TGG		valyl-tRNA synthetase	L-Valine(DB00161)						49.0	46.0	47.0					6																	31750569		1509	2708	4217	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31750569G>A	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1816C>T	6.37:g.31750569G>A	ENSP00000364815:p.Arg606Trp					VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Intron	p.R606W	NM_006295	NP_006286	P26640	SYVC_HUMAN			15	2239	-			606					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1816C>T	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663700	0.67700	.	.	ENSG00000204394	ENST00000375663	T	0.37752	1.18	5.09	3.01	0.34805	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.051062	0.85682	D	0.000000	T	0.70219	0.3199	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81760	-0.0785	10	0.87932	D	0	-25.6619	11.7064	0.51599	0.0:0.0:0.5505:0.4495	.	606	P26640	SYVC_HUMAN	W	606	ENSP00000364815:R606W	ENSP00000364815:R606W	R	-	1	2	VARS	31858548	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.179000	0.50887	1.063000	0.40649	0.563000	0.77884	CGG		0.607	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2		NM_006295		5	73	0	0	0	0.014758	0	5	73		
DST	667	broad.mit.edu	37	6	56479254	56479254	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:56479254T>G	ENST00000361203.3	-	33	4332	c.4325A>C	c.(4324-4326)cAt>cCt	p.H1442P	DST_ENST00000312431.6_Missense_Mutation_p.H1442P|DST_ENST00000370788.2_Missense_Mutation_p.H1442P|DST_ENST00000421834.2_Missense_Mutation_p.H1442P|DST_ENST00000244364.6_Missense_Mutation_p.H1116P|DST_ENST00000446842.2_Missense_Mutation_p.H1116P|DST_ENST00000370754.5_Missense_Mutation_p.H1620P|DST_ENST00000370769.4_Missense_Mutation_p.H1442P			Q03001	DYST_HUMAN	dystonin	1442					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTTTCAACATGTTCTTTCTT	0.368																																						uc003pdf.2		NaN																	0		p.G1620D(1)		ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4858-4860)CAT>CCT		dystonin isoform 2							152.0	136.0	141.0					6																	56479254		1833	4094	5927	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56479254T>G	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4325A>C	6.37:g.56479254T>G	ENSP00000354508:p.His1442Pro					DST_uc003pcz.3_Missense_Mutation_p.H1442P|DST_uc011dxj.1_Missense_Mutation_p.H1471P|DST_uc011dxk.1_Missense_Mutation_p.H1482P|DST_uc003pcy.3_Missense_Mutation_p.H1116P|DST_uc003pdb.2_Missense_Mutation_p.H1116P	p.H1620P	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		36	4887	-	Lung NSC(77;0.103)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4859A>C		.	.	.	.	.	.	.	.	.	.	T	22.9	4.347391	0.82022	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203	T;T;T;T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06;2.06	5.88	5.88	0.94601	.	0.113287	0.39475	N	0.001354	T	0.36331	0.0963	M	0.69823	2.125	0.18873	N	0.999989	P;D;D;D;P;D	0.89917	0.61;0.998;0.996;1.0;0.61;0.998	B;D;P;D;B;D	0.79108	0.205;0.938;0.731;0.992;0.205;0.983	T	0.09530	-1.0670	9	0.36615	T	0.2	.	16.2997	0.82804	0.0:0.0:0.0:1.0	.	1442;1442;1620;1116;1442;1116	Q5TBT1;E7ERU2;E9PEB9;Q03001-9;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	P	1116;1620;1442;1442;1116;1442;1442;1442;1116	ENSP00000244364:H1116P;ENSP00000359790:H1620P;ENSP00000359805:H1442P;ENSP00000400883:H1442P;ENSP00000393645:H1116P;ENSP00000307959:H1442P;ENSP00000359824:H1442P;ENSP00000354508:H1442P;ENSP00000404924:H1116P	ENSP00000244364:H1116P	H	-	2	0	DST	56587213	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.428000	0.73383	2.250000	0.74265	0.528000	0.53228	CAT		0.368	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		7	15	0	0	0	0.02938	0	7	15		
KHDRBS2	202559	broad.mit.edu	37	6	62442653	62442653	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:62442653T>C	ENST00000281156.4	-	7	1105	c.827A>G	c.(826-828)tAc>tGc	p.Y276C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCACCCCCGTAGCCATCATC	0.383																																						uc003peg.2		NaN																	0				skin(7)|ovary(3)|liver(1)	11						c.(826-828)TAC>TGC		KH domain-containing, RNA-binding, signal							153.0	144.0	147.0					6																	62442653		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62442653T>C	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.827A>G	6.37:g.62442653T>C	ENSP00000281156:p.Tyr276Cys						p.Y276C	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	7	1074	-			276					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.827A>G	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.105877	0.56291	.	.	ENSG00000112232	ENST00000281156	T	0.56275	0.47	5.93	4.77	0.60923	.	0.133709	0.52532	D	0.000069	T	0.60379	0.2264	M	0.78637	2.42	0.45005	D	0.998027	D	0.89917	1.0	D	0.65443	0.935	T	0.67225	-0.5724	10	0.87932	D	0	-2.1708	9.6903	0.40125	0.0:0.0792:0.0:0.9208	.	276	Q5VWX1	KHDR2_HUMAN	C	276	ENSP00000281156:Y276C	ENSP00000281156:Y276C	Y	-	2	0	KHDRBS2	62500612	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	3.189000	0.50965	1.085000	0.41206	0.524000	0.50904	TAC		0.383	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2		NM_152688		26	43	0	0	0	0.030593	0	26	43		
CD109	135228	broad.mit.edu	37	6	74473393	74473393	+	Silent	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:74473393C>G	ENST00000287097.5	+	10	1204	c.1092C>G	c.(1090-1092)ctC>ctG	p.L364L	CD109_ENST00000437994.2_Silent_p.L364L|CD109_ENST00000422508.2_Silent_p.L287L			Q6YHK3	CD109_HUMAN	CD109 molecule	364					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCATCTCTCAACTTCACAG	0.318																																						uc003php.2		NaN																	0				large_intestine(2)|ovary(2)	4						c.(1090-1092)CTC>CTG		CD109 antigen isoform 1 precursor							77.0	80.0	79.0					6																	74473393		2201	4299	6500	SO:0001819	synonymous_variant	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74473393C>G	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1092C>G	6.37:g.74473393C>G						CD109_uc010kaz.2_Silent_p.L364L|CD109_uc003phq.2_Silent_p.L364L|CD109_uc010kba.2_Silent_p.L287L	p.L364L	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN			10	1517	+			364					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Silent	SNP	ENST00000287097.5	37	c.1092C>G	CCDS4982.1																																																																																				0.318	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		NM_133493		20	35	0	0	0	0.049695	0	20	35		
ORC3	23595	broad.mit.edu	37	6	88376826	88376826	+	Silent	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:88376826A>T	ENST00000392844.3	+	20	2169	c.2121A>T	c.(2119-2121)acA>acT	p.T707T	ORC3_ENST00000546266.1_Silent_p.T564T|ORC3_ENST00000257789.4_Silent_p.T708T	NM_012381.3|NM_181837.2	NP_036513.2|NP_862820.1	Q9UBD5	ORC3_HUMAN	origin recognition complex, subunit 3	707					DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|neural precursor cell proliferation (GO:0061351)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA replication origin binding (GO:0003688)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	28						CAAGACTAACATGGGGAGGCT	0.393																																						uc003pmh.2		NaN																	0					0						c.(2119-2121)ACA>ACT		origin recognition complex, subunit 3 isoform 2							57.0	56.0	56.0					6																	88376826		2203	4300	6503	SO:0001819	synonymous_variant	23595				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding	g.chr6:88376826A>T	AF093535	CCDS5012.1, CCDS43486.1, CCDS56440.1	6q	2010-10-12	2010-10-12	2010-10-12	ENSG00000135336	ENSG00000135336			8489	protein-coding gene	gene with protein product		604972	"""origin recognition complex, subunit 3 (yeast homolog)-like"", ""origin recognition complex, subunit 3-like (yeast)"", ""origin recognition complex, subunit 3 honolog (yeast)"""	ORC3L		9829972, 10402192	Standard	NM_181837		Approved	IMAGE50150, LATHEO	uc003pmg.3	Q9UBD5	OTTHUMG00000015179	ENST00000392844.3:c.2121A>T	6.37:g.88376826A>T						ORC3L_uc003pmg.2_Silent_p.T708T|ORC3L_uc003pmi.2_Silent_p.T670T|ORC3L_uc011dzo.1_Silent_p.T564T|ORC3L_uc011dzp.1_Silent_p.T564T|ORC3L_uc003pmj.1_RNA	p.T707T	NM_012381	NP_036513	Q9UBD5	ORC3_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0469)	20	2165	+		all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114)	707					A2A2T5|B4E025|Q13565|Q53GY6|Q5T159|Q6IUY7|Q86TN5|Q9UG44|Q9UNT6	Silent	SNP	ENST00000392844.3	37	c.2121A>T	CCDS43486.1																																																																																				0.393	ORC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041452.2				21	30	0	0	0	0.062417	0	21	30		
REV3L	5980	broad.mit.edu	37	6	111636553	111636553	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:111636553C>G	ENST00000358835.3	-	28	8837	c.8383G>C	c.(8383-8385)Gag>Cag	p.E2795Q	REV3L_ENST00000368802.3_Missense_Mutation_p.E2795Q|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000368805.1_Missense_Mutation_p.E2795Q|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.E2717Q			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2795					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGACTGCTCCTTAGTGGCT	0.343								DNA polymerases (catalytic subunits)																														uc003puy.3		NaN																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(8383-8385)GAG>CAG	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							76.0	68.0	70.0					6																	111636553		2203	4300	6503	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111636553C>G	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8383G>C	6.37:g.111636553C>G	ENSP00000351697:p.Glu2795Gln					REV3L_uc003pux.3_Missense_Mutation_p.E2717Q|REV3L_uc003puz.3_Missense_Mutation_p.E2717Q|REV3L_uc003pva.1_RNA	p.E2795Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	27	8706	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2795					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.8383G>C	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	C	33	5.217909	0.95104	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	5.51	5.51	0.81932	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.28101	0.0693	L	0.49256	1.55	0.58432	D	0.999996	P	0.41420	0.749	P	0.53266	0.722	T	0.00643	-1.1630	10	0.49607	T	0.09	-6.2442	19.415	0.94690	0.0:1.0:0.0:0.0	.	2795	O60673	DPOLZ_HUMAN	Q	2795;2795;2795;2717	ENSP00000357792:E2795Q;ENSP00000357795:E2795Q;ENSP00000351697:E2795Q;ENSP00000402003:E2717Q	ENSP00000351697:E2795Q	E	-	1	0	REV3L	111743246	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.786000	0.85741	2.600000	0.87896	0.650000	0.86243	GAG		0.343	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912		14	23	0	0	0	0.016723	0	14	23		
UTRN	7402	broad.mit.edu	37	6	144863938	144863938	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:144863938G>A	ENST00000367545.3	+	45	6527	c.6527G>A	c.(6526-6528)aGa>aAa	p.R2176K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2176					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TAGATTTGCAGAGAGGTGCCT	0.403																																						uc003qkt.2		NaN																	0				ovary(4)|pancreas(1)	5						c.(6526-6528)AGA>AAA		utrophin							89.0	86.0	87.0					6																	144863938		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144863938G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.6527G>A	6.37:g.144863938G>A	ENSP00000356515:p.Arg2176Lys						p.R2176K	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	45	6619	+		Ovarian(120;0.218)	2176					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.6527G>A	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159436	0.21454	.	.	ENSG00000152818	ENST00000367545	T	0.34072	1.38	3.69	3.69	0.42338	.	0.122896	0.34245	N	0.004124	T	0.12390	0.0301	L	0.29908	0.895	0.80722	D	1	B	0.26002	0.139	B	0.21546	0.035	T	0.04242	-1.0966	10	0.16420	T	0.52	.	13.3653	0.60680	0.0:0.0:1.0:0.0	.	2176	P46939	UTRO_HUMAN	K	2176	ENSP00000356515:R2176K	ENSP00000356515:R2176K	R	+	2	0	UTRN	144905631	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	1.706000	0.37878	2.359000	0.80004	0.561000	0.74099	AGA		0.403	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1				11	13	0	0	0	0.016723	0	11	13		
SNX13	23161	broad.mit.edu	37	7	17843094	17843094	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:17843094A>G	ENST00000409389.1	-	21	2379	c.2207T>C	c.(2206-2208)aTg>aCg	p.M736T	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.M725T			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	736					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATTTTGCCCATGTTGTCTGA	0.338																																						uc003stw.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.(2206-2208)ATG>ACG		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							114.0	103.0	107.0					7																	17843094		1861	4105	5966	SO:0001583	missense	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17843094A>G	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2207T>C	7.37:g.17843094A>G	ENSP00000386705:p.Met736Thr					SNX13_uc003stv.2_Missense_Mutation_p.M725T|SNX13_uc010kuc.2_Missense_Mutation_p.M522T|SNX13_uc010kub.2_Missense_Mutation_p.M131T	p.M736T			Q9Y5W8	SNX13_HUMAN			21	2420	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		736					B2RCI9|O94821|Q8WVZ2|Q8WXH8	Missense_Mutation	SNP	ENST00000409389.1	37	c.2207T>C		.	.	.	.	.	.	.	.	.	.	A	16.82	3.229649	0.58777	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	T;T	0.16457	2.34;2.6	5.77	5.77	0.91146	.	0.034147	0.85682	D	0.000000	T	0.14743	0.0356	L	0.34521	1.04	0.80722	D	1	B;B;P	0.40931	0.358;0.035;0.733	B;B;B	0.39119	0.07;0.097;0.291	T	0.08722	-1.0708	10	0.15499	T	0.54	-8.4293	16.099	0.81152	1.0:0.0:0.0:0.0	.	522;736;725	B3KN60;B8ZZT9;Q9Y5W8-2	.;.;.	T	736;725;773	ENSP00000386705:M736T;ENSP00000398789:M725T	ENSP00000242044:M773T	M	-	2	0	SNX13	17809619	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.203000	0.70933	0.533000	0.62120	ATG		0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1		NM_015132		14	16	0	0	0	0.020292	0	14	16		
DNAH11	8701	broad.mit.edu	37	7	21721207	21721207	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:21721207T>C	ENST00000409508.3	+	31	5403	c.5372T>C	c.(5371-5373)cTt>cCt	p.L1791P	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1796P	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1796	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGGAGAACTTCCACCTGGA	0.388									Kartagener syndrome																													uc003svc.2		NaN																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(5386-5388)CTT>CCT		dynein, axonemal, heavy chain 11							111.0	103.0	105.0					7																	21721207		1887	4122	6009	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21721207T>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.5372T>C	7.37:g.21721207T>C	ENSP00000475939:p.Leu1791Pro						p.L1796P	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			31	5418	+			1796			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.5387T>C		.	.	.	.	.	.	.	.	.	.	T	21.4	4.150363	0.78001	.	.	ENSG00000105877	ENST00000328843	T	0.64803	-0.12	5.39	5.39	0.77823	.	0.137877	0.47455	D	0.000231	T	0.78966	0.4367	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.82121	-0.0614	9	0.87932	D	0	.	15.366	0.74523	0.0:0.0:0.0:1.0	.	1796	Q96DT5	DYH11_HUMAN	P	1796	ENSP00000330671:L1796P	ENSP00000330671:L1796P	L	+	2	0	DNAH11	21687732	1.000000	0.71417	0.950000	0.38849	0.910000	0.53928	7.525000	0.81892	2.152000	0.67230	0.477000	0.44152	CTT		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777		19	39	0	0	0	0.043863	0	19	39		
ZAN	7455	broad.mit.edu	37	7	100365467	100365467	+	RNA	SNP	G	G	A	rs74848966	byFrequency	TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:100365467G>A	ENST00000348028.3	+	0	5039				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AATGGCCATCGGGTGGCCCTA	0.582													G|||	5	0.000998403	0.0008	0.0	5008	,	,		19070	0.001		0.003	False		,,,				2504	0.0					uc003uwj.2		NaN																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(4873-4875)CGG>CAG		zonadhesin isoform 3		G	GLN/ARG,GLN/ARG	2,4076		0,2,2037	42.0	45.0	44.0		4874,4874	0.7	0.0	7	dbSNP_132	44	37,8329		0,37,4146	yes	missense,missense	ZAN	NM_003386.1,NM_173059.1	43,43	0,39,6183	AA,AG,GG		0.4423,0.049,0.3134	benign,benign	1625/2813,1625/2722	100365467	39,12405	2039	4183	6222			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100365467G>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365467G>A						ZAN_uc003uwk.2_Missense_Mutation_p.R1625Q|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Missense_Mutation_p.R202Q	p.R1625Q	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		26	5039	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		1625			Extracellular (Potential).|VWFD 2.		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.4874G>A		3	0.0013736263736263737	0	0.0	0	0.0	1	0.0017482517482517483	2	0.002638522427440633	G	17.38	3.376197	0.61735	4.9E-4	0.004423	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	4.57	0.659	0.17861	von Willebrand factor, type D domain (3);	0.643861	0.12901	N	0.429839	T	0.38108	0.1028	L	0.31420	0.93	0.09310	N	1	B;B	0.33000	0.341;0.393	B;B	0.26614	0.043;0.071	T	0.12218	-1.0556	10	0.35671	T	0.21	.	7.2427	0.26106	0.3894:0.0:0.6106:0.0	.	1625;1625	F5H0T8;Q9Y493	.;ZAN_HUMAN	Q	1625;1625;1625;202	ENSP00000445943:R1625Q;ENSP00000445091:R1625Q;ENSP00000444427:R1625Q;ENSP00000441117:R202Q	ENSP00000423579:R1625Q	R	+	2	0	ZAN	100203403	0.080000	0.21391	0.004000	0.12327	0.025000	0.11179	0.458000	0.21892	0.002000	0.14630	0.655000	0.94253	CGG		0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1		NM_003386		18	33	0	0	0	0.0333	0	18	33		
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGGGTTCGAGCAGAAAT	0.542																																						uc003vdv.3		NaN																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(1630-1632)CGA>TGA		phosphoinositide-3-kinase, catalytic, gamma							85.0	82.0	83.0					7																	106509636		2203	4300	6503	SO:0001587	stop_gained	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509636C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1630C>T	7.37:g.106509636C>T	ENSP00000352121:p.Arg544*					PIK3CG_uc003vdu.2_Nonsense_Mutation_p.R544*|PIK3CG_uc003vdw.2_Nonsense_Mutation_p.R544*	p.R544*	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	1715	+			544					A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation	SNP	ENST00000359195.3	37	c.1630C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.904157	0.97924	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	.	.	.	5.81	2.86	0.33363	.	0.127310	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.7755	15.3584	0.74448	0.5961:0.4039:0.0:0.0	.	.	.	.	X	544	.	ENSP00000352121:R544X	R	+	1	2	PIK3CG	106296872	0.725000	0.28048	0.943000	0.38184	0.989000	0.77384	1.384000	0.34396	0.766000	0.33244	0.655000	0.94253	CGA		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1				43	66	0	0	0	0.039052	0	43	66		
PLXNA4	91584	broad.mit.edu	37	7	131865461	131865461	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:131865461C>T	ENST00000359827.3	-	19	4485	c.3523G>A	c.(3523-3525)Ggc>Agc	p.G1175S	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1175S			Q9HCM2	PLXA4_HUMAN	plexin A4	1175	IPT/TIG 4.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCACGTTGCCCCCAGCCACA	0.597																																						uc003vra.3		NaN																	0				ovary(1)	1						c.(3523-3525)GGC>AGC		plexin A4 isoform 1							53.0	56.0	55.0					7																	131865461		2085	4227	6312	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131865461C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3523G>A	7.37:g.131865461C>T	ENSP00000352882:p.Gly1175Ser						p.G1175S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			19	3752	-			1175			IPT/TIG 4.|Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3523G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019568	0.75275	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.77489	-1.1;-1.1	5.38	5.38	0.77491	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83575	0.0114	10	0.02654	T	1	.	19.1282	0.93394	0.0:1.0:0.0:0.0	.	1175	Q9HCM2	PLXA4_HUMAN	S	1175	ENSP00000323194:G1175S;ENSP00000352882:G1175S	ENSP00000323194:G1175S	G	-	1	0	PLXNA4	131516001	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.427000	0.80284	2.551000	0.86045	0.561000	0.74099	GGC		0.597	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		4	62	0	0	0	0.014758	0	4	62		
HIPK2	28996	broad.mit.edu	37	7	139416296	139416296	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:139416296T>A	ENST00000406875.3	-	2	632	c.538A>T	c.(538-540)Agc>Tgc	p.S180C	HIPK2_ENST00000342645.6_Missense_Mutation_p.S180C|HIPK2_ENST00000428878.2_Missense_Mutation_p.S180C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	180	Transcriptional corepression. {ECO:0000250}.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TCGCCCTCGCTGTTGGAGCCG	0.572																																						uc003vvf.3		NaN																	0				ovary(3)|central_nervous_system(3)|skin(1)	7						c.(538-540)AGC>TGC		homeodomain interacting protein kinase 2 isoform							121.0	106.0	111.0					7																	139416296		1568	3582	5150	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139416296T>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.538A>T	7.37:g.139416296T>A	ENSP00000385571:p.Ser180Cys					HIPK2_uc003vvd.3_Missense_Mutation_p.S180C	p.S180C	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN			2	712	-	Melanoma(164;0.205)		180			Transcriptional corepression (By similarity).		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.538A>T		.	.	.	.	.	.	.	.	.	.	T	14.21	2.467250	0.43839	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.23348	1.91;1.91;1.91	5.41	4.27	0.50696	.	.	.	.	.	T	0.36991	0.0987	.	.	.	0.46678	D	0.999155	D;D	0.60575	0.988;0.979	P;P	0.53313	0.533;0.723	T	0.20974	-1.0259	8	0.66056	D	0.02	.	10.674	0.45774	0.0:0.0745:0.0:0.9255	.	180;180	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	C	180	ENSP00000385571:S180C;ENSP00000413724:S180C;ENSP00000343108:S180C	ENSP00000343108:S180C	S	-	1	0	HIPK2	139062782	1.000000	0.71417	0.997000	0.53966	0.113000	0.19764	5.135000	0.64777	2.042000	0.60477	0.533000	0.62120	AGC		0.572	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3		NM_022740		66	83	0	0	0	0.048971	0	66	83		
ESYT2	57488	broad.mit.edu	37	7	158528300	158528300	+	Splice_Site	SNP	C	C	T	rs191388596		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:158528300C>T	ENST00000251527.5	-	20	2546		c.e20-1		ESYT2_ENST00000435514.2_Splice_Site	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2						endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAAATCAAAGCTGAAATAGGA	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		20108	0.001		0.0	False		,,,				2504	0.0					uc003wob.1		NaN																	0				central_nervous_system(2)|kidney(1)	3						c.e20-1		family with sequence similarity 62 (C2 domain							99.0	102.0	101.0					7																	158528300		2203	4300	6503	SO:0001630	splice_region_variant	57488					integral to membrane|plasma membrane		g.chr7:158528300C>T	AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2481-1G>A	7.37:g.158528300C>T						ESYT2_uc003wny.1_Splice_Site|ESYT2_uc003wnz.1_Splice_Site_p.S266_splice|ESYT2_uc003woa.1_Splice_Site_p.S404_splice	p.S827_splice	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN			20	2547	-								A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Splice_Site	SNP	ENST00000251527.5	37	c.2481_splice	CCDS34791.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.63	3.664381	0.67700	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5774	0.91159	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ESYT2	158221061	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	7.301000	0.78850	2.639000	0.89480	0.655000	0.94253	.		0.428	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1		NM_020728	Intron	66	83	0	0	0	0.048971	0	66	83		
PINX1	54984	broad.mit.edu	37	8	10623339	10623339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:10623339C>T	ENST00000314787.3	-	7	678	c.559G>A	c.(559-561)Gca>Aca	p.A187T	CTD-2135J3.3_ENST00000506149.2_RNA|PINX1_ENST00000426190.2_Missense_Mutation_p.G159D|SOX7_ENST00000554914.1_Intron|SOX7_ENST00000553390.1_Intron|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_Missense_Mutation_p.G161D	NM_017884.4	NP_060354.4	Q96BK5	PINX1_HUMAN	PIN2/TERF1 interacting, telomerase inhibitor 1	187					mitotic metaphase plate congression (GO:0007080)|negative regulation of cell proliferation (GO:0008285)|negative regulation of telomerase activity (GO:0051974)|regulation of telomerase activity (GO:0051972)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)|nucleolus (GO:0005730)|spindle (GO:0005819)	telomerase inhibitor activity (GO:0010521)|telomeric RNA binding (GO:0070034)			kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCAGTGCTGCCATCCGCTTG	0.547																																						uc003wth.2		NaN																	0				lung(1)|kidney(1)|skin(1)	3						c.(559-561)GCA>ACA		PIN2-interacting protein 1							164.0	169.0	167.0					8																	10623339		1987	4166	6153	SO:0001583	missense	54984				mitotic metaphase plate congression|negative regulation of cell proliferation	chromosome, telomeric region|condensed chromosome kinetochore|mitochondrion|nuclear chromosome|nucleolus|spindle	protein binding|telomerase inhibitor activity|telomeric RNA binding	g.chr8:10623339C>T	AF418553	CCDS47801.1, CCDS64825.1	8p23	2013-01-28				ENSG00000254093		"""G patch domain containing"""	30046	protein-coding gene	gene with protein product	"""PIN2 interacting protein 1"", ""liver-related putative tumor suppressor"""	606505				11003615, 11701125	Standard	NM_001284356		Approved	PinX1, LPTL, LPTS, FLJ20565, MGC8850		Q96BK5		ENST00000314787.3:c.559G>A	8.37:g.10623339C>T	ENSP00000318966:p.Ala187Thr					SOX7_uc011kwz.1_Intron|PINX1_uc003wti.2_Missense_Mutation_p.G161D	p.A187T	NM_017884	NP_060354	Q96BK5	PINX1_HUMAN		Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)	7	592	-			187					B2R9B1|Q548A5|Q6QWG9|Q7Z7J8|Q96QD7|Q9HBU7|Q9NWW2	Missense_Mutation	SNP	ENST00000314787.3	37	c.559G>A	CCDS47801.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.71|15.71	2.914164|2.914164	0.52546|0.52546	.|.	.|.	ENSG00000254093|ENSG00000254093	ENST00000314787;ENST00000524114|ENST00000426190;ENST00000519088	T|.	0.11277|.	2.79|.	5.8|5.8	1.5|1.5	0.22942|0.22942	.|.	0.152240|.	0.56097|.	N|.	0.000022|.	T|T	0.44265|0.44265	0.1285|0.1285	M|M	0.83012|0.83012	2.62|2.62	0.22112|0.22112	N|N	0.999358|0.999358	D|B	0.71674|0.18166	0.998|0.026	D|B	0.66196|0.22601	0.942|0.04	T|T	0.43734|0.43734	-0.9373|-0.9373	10|8	0.59425|0.10377	D|T	0.04|0.69	.|.	5.4585|5.4585	0.16604|0.16604	0.2942:0.5395:0.0:0.1663|0.2942:0.5395:0.0:0.1663	.|.	187|161	Q96BK5|Q96BK5-2	PINX1_HUMAN|.	T|D	187;197|159;161	ENSP00000318966:A187T|.	ENSP00000318966:A187T|ENSP00000411396:G159D	A|G	-|-	1|2	0|0	PINX1|PINX1	10660749|10660749	1.000000|1.000000	0.71417|0.71417	0.945000|0.945000	0.38365|0.38365	0.595000|0.595000	0.36748|0.36748	3.211000|3.211000	0.51137|0.51137	0.357000|0.357000	0.24183|0.24183	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.547	PINX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375683.1		NM_017884		162	171	0	0	0	0.048971	0	162	171		
CNBD1	168975	broad.mit.edu	37	8	87951882	87951882	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:87951882A>T	ENST00000518476.1	+	4	382	c.331A>T	c.(331-333)Ata>Tta	p.I111L		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	111										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TTCTAACAATATAGCTGTCCA	0.348																																						uc003ydy.2		NaN																	0				ovary(3)	3						c.(331-333)ATA>TTA		cyclic nucleotide binding domain containing 1							100.0	97.0	98.0					8																	87951882		1829	4093	5922	SO:0001583	missense	168975							g.chr8:87951882A>T	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.331A>T	8.37:g.87951882A>T	ENSP00000430073:p.Ile111Leu						p.I111L	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			4	379	+			111						Missense_Mutation	SNP	ENST00000518476.1	37	c.331A>T	CCDS55259.1	.	.	.	.	.	.	.	.	.	.	A	7.554	0.663289	0.14710	.	.	ENSG00000176571	ENST00000518476	D	0.96745	-4.11	4.72	-0.442	0.12253	.	0.191966	0.36066	N	0.002819	D	0.91872	0.7427	L	0.43152	1.355	0.19300	N	0.999979	B	0.26744	0.158	B	0.21708	0.036	T	0.83200	-0.0079	10	0.45353	T	0.12	.	9.0624	0.36442	0.6594:0.0:0.3406:0.0	.	111	Q8NA66	CNBD1_HUMAN	L	111	ENSP00000430073:I111L	ENSP00000430073:I111L	I	+	1	0	CNBD1	88020998	0.739000	0.28196	0.248000	0.24265	0.012000	0.07955	0.338000	0.19858	-0.423000	0.07394	-1.506000	0.00953	ATA		0.348	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2		NM_173538		33	58	0	0	0	0.064281	0	33	58		
FER1L6	654463	broad.mit.edu	37	8	125113410	125113410	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:125113410C>A	ENST00000522917.1	+	38	5162	c.4956C>A	c.(4954-4956)aaC>aaA	p.N1652K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.N1652K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1652	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.					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)			GAGAGGGCAACTTCAACTGGC	0.433																																						uc003yqw.2		NaN																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4954-4956)AAC>AAA		fer-1-like 6							88.0	93.0	91.0					8																	125113410		2130	4277	6407	SO:0001583	missense	654463					integral to membrane		g.chr8:125113410C>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.4956C>A	8.37:g.125113410C>A	ENSP00000428280:p.Asn1652Lys					uc003yqy.1_Intron	p.N1652K	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		38	5162	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1652			C2 6.|Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000522917.1	37	c.4956C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222214	0.79464	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	D;D	0.86030	-2.06;-2.06	5.71	4.83	0.62350	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.92821	0.7717	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93217	0.6605	10	0.62326	D	0.03	-37.7633	10.7068	0.45960	0.0:0.8547:0.0:0.1453	.	1652	Q2WGJ9	FR1L6_HUMAN	K	1652	ENSP00000428280:N1652K;ENSP00000381982:N1652K	ENSP00000381982:N1652K	N	+	3	2	FER1L6	125182591	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.382000	0.52463	1.406000	0.46857	0.563000	0.77884	AAC		0.433	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1		NM_001039112		29	50	1	0	3.73808e-20	0.027356	4.07963e-20	29	50		
COL22A1	169044	broad.mit.edu	37	8	139606409	139606409	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:139606409G>A	ENST00000303045.6	-	63	4912	c.4466C>T	c.(4465-4467)cCg>cTg	p.P1489L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1469L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1489	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATGTACGCCGGGGGCATCTG	0.592										HNSCC(7;0.00092)																												uc003yvd.2		NaN																	0				ovary(11)|pancreas(1)|skin(1)	13						c.(4465-4467)CCG>CTG		collagen, type XXII, alpha 1							38.0	42.0	41.0					8																	139606409		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606409G>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4466C>T	8.37:g.139606409G>A	ENSP00000303153:p.Pro1489Leu	HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Missense_Mutation_p.P769L	p.P1489L	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	4913	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1489			Pro-rich.|Gly-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4466C>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545475	0.65198	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.89343	-2.5;-2.42	5.92	5.92	0.95590	.	0.130363	0.34777	N	0.003689	D	0.90642	0.7065	M	0.69823	2.125	0.80722	D	1	P;D	0.63046	0.94;0.992	P;P	0.48425	0.577;0.455	D	0.88241	0.2910	10	0.23891	T	0.37	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1469;1489	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	L	1489;1469;1182	ENSP00000303153:P1489L;ENSP00000387655:P1469L	ENSP00000303153:P1489L	P	-	2	0	COL22A1	139675591	1.000000	0.71417	0.696000	0.30242	0.480000	0.33159	9.430000	0.97488	2.820000	0.97059	0.650000	0.86243	CCG		0.592	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2		XM_291257		44	52	0	0	0	0.048971	0	44	52		
DENND3	22898	broad.mit.edu	37	8	142151356	142151356	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:142151356G>A	ENST00000262585.2	+	4	594	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	DENND3_ENST00000424248.1_Missense_Mutation_p.V106M|DENND3_ENST00000518347.1_Missense_Mutation_p.V186M|DENND3_ENST00000519811.1_Missense_Mutation_p.V186M	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	106	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCTGCTTCGTGCCCTTCGC	0.577																																						uc003yvy.2		NaN																	0				ovary(1)	1						c.(316-318)GTG>ATG		DENN/MADD domain containing 3							164.0	125.0	138.0					8																	142151356		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142151356G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.316G>A	8.37:g.142151356G>A	ENSP00000262585:p.Val106Met					DENND3_uc003yvw.1_Missense_Mutation_p.V119M|DENND3_uc003yvx.2_Silent_p.S184S|DENND3_uc010mep.2_Missense_Mutation_p.V119M	p.V106M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		4	594	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		106			DENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.316G>A	CCDS34947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.87|13.87	2.367028|2.367028	0.41902|0.41902	.|.	.|.	ENSG00000105339|ENSG00000105339	ENST00000518668|ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000523058;ENST00000518249	.|T;T;T;T	.|0.12569	.|2.67;2.67;2.67;2.67	5.24|5.24	3.46|3.46	0.39613|0.39613	.|DENN (3);	.|0.261727	.|0.38058	.|N	.|0.001838	T|T	0.29749|0.29749	0.0743|0.0743	M|M	0.73217|0.73217	2.22|2.22	0.28343|0.28343	N|N	0.921263|0.921263	.|D;D;D	.|0.89917	.|0.996;0.982;1.0	.|P;P;D	.|0.66602	.|0.877;0.729;0.945	T|T	0.08269|0.08269	-1.0730|-1.0730	5|10	.|0.62326	.|D	.|0.03	-13.5677|-13.5677	7.1989|7.1989	0.25868|0.25868	0.1466:0.0:0.7153:0.1381|0.1466:0.0:0.7153:0.1381	.|.	.|186;106;186	.|E9PF32;A2RUS2;E5RIR7	.|.;DEND3_HUMAN;.	H|M	162|119;186;106;106;186;186;19	.|ENSP00000262585:V106M;ENSP00000410594:V106M;ENSP00000428714:V186M;ENSP00000430786:V186M	.|ENSP00000262585:V106M	R|V	+|+	2|1	0|0	DENND3|DENND3	142220538|142220538	0.883000|0.883000	0.30277|0.30277	0.722000|0.722000	0.30670|0.30670	0.029000|0.029000	0.11900|0.11900	1.157000|1.157000	0.31724|0.31724	0.603000|0.603000	0.29913|0.29913	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.577	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		14	144	0	0	0	0.020292	0	14	144		
TSNARE1	203062	broad.mit.edu	37	8	143399942	143399942	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143399942A>G	ENST00000307180.3	-	7	1064	c.947T>C	c.(946-948)gTg>gCg	p.V316A	TSNARE1_ENST00000519651.1_Missense_Mutation_p.V97A|TSNARE1_ENST00000524325.1_Missense_Mutation_p.V316A|TSNARE1_ENST00000520166.1_Missense_Mutation_p.V316A|TSNARE1_ENST00000518928.1_5'UTR	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	316					intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CATCTGCTTCACGGAGCTGGC	0.662																																						uc003ywk.2		NaN																	0					0						c.(946-948)GTG>GCG		t-SNARE domain containing 1							102.0	97.0	99.0					8																	143399942		2203	4300	6503	SO:0001583	missense	203062				vesicle-mediated transport	integral to membrane		g.chr8:143399942A>G			8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.947T>C	8.37:g.143399942A>G	ENSP00000303437:p.Val316Ala					TSNARE1_uc011lju.1_Missense_Mutation_p.V316A|TSNARE1_uc003ywj.2_Missense_Mutation_p.V316A|TSNARE1_uc003ywl.3_Missense_Mutation_p.V97A	p.V316A	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN			7	1065	-	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		316					B7ZLB0|Q14D03	Missense_Mutation	SNP	ENST00000307180.3	37	c.947T>C	CCDS6384.1	.	.	.	.	.	.	.	.	.	.	A	7.325	0.617847	0.14129	.	.	ENSG00000171045	ENST00000524325;ENST00000307180;ENST00000520166;ENST00000519651	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.0	1.62	0.23740	t-SNARE (1);	1.180760	0.06857	U	0.798310	T	0.22936	0.0554	L	0.47716	1.5	0.09310	N	0.999997	B;B;B;B	0.29037	0.231;0.231;0.231;0.231	B;B;B;B	0.24541	0.039;0.054;0.039;0.039	T	0.28650	-1.0037	10	0.66056	D	0.02	.	6.8692	0.24111	0.8204:0.0:0.1796:0.0	.	316;97;316;316	B7ZLB0;E5RHT3;Q96NA8;A0AVG3	.;.;TSNA1_HUMAN;.	A	316;316;316;97	ENSP00000428763:V316A;ENSP00000303437:V316A;ENSP00000427770:V316A;ENSP00000429679:V97A	ENSP00000303437:V316A	V	-	2	0	TSNARE1	143397849	0.713000	0.27926	0.263000	0.24496	0.148000	0.21650	1.847000	0.39299	0.045000	0.15804	0.533000	0.62120	GTG		0.662	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_145003		62	125	0	0	0	0.048971	0	62	125		
BAI1	575	broad.mit.edu	37	8	143599522	143599522	+	Silent	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:143599522G>A	ENST00000517894.1	+	19	3735	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P	BAI1_ENST00000323289.5_Silent_p.P947P			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	947					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGACTCTGCCGTCGGTGACGC	0.647																																						uc003ywm.2		NaN																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2839-2841)CCG>CCA		brain-specific angiogenesis inhibitor 1							158.0	163.0	161.0					8																	143599522		2201	4296	6497	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143599522G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2841G>A	8.37:g.143599522G>A							p.P947P	NM_001702	NP_001693	O14514	BAI1_HUMAN			18	3024	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		947			Extracellular (Potential).			Silent	SNP	ENST00000517894.1	37	c.2841G>A																																																																																					0.647	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3		NM_001702		38	65	0	0	0	0.030466	0	38	65		
FBP1	2203	broad.mit.edu	37	9	97365704	97365704	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:97365704G>T	ENST00000375326.4	-	7	1172	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	FBP1_ENST00000415431.1_Missense_Mutation_p.L326I	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	326					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	AGGAACTCGAGCACGTCGTCG	0.587											OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(142;590 2466 25593 44496)	uc004auw.3		NaN																	0					0						c.(976-978)CTC>ATC		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)						64.0	57.0	59.0					9																	97365704		2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97365704G>T	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.976C>A	9.37:g.97365704G>T	ENSP00000364475:p.Leu326Ile		OREG0019330	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1327	FBP1_uc010mrl.2_Missense_Mutation_p.L326I	p.L326I	NM_000507	NP_000498	P09467	F16P1_HUMAN			7	1307	-		Acute lymphoblastic leukemia(62;0.136)	326					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.976C>A	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	G	7.810	0.715597	0.15306	.	.	ENSG00000165140	ENST00000375326;ENST00000415431	T;T	0.71934	-0.61;-0.61	5.14	-5.43	0.02632	.	1.544550	0.03661	N	0.242595	T	0.47746	0.1462	N	0.03983	-0.305	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45977	-0.9224	10	0.62326	D	0.03	1.8674	11.6243	0.51136	0.0:0.1876:0.608:0.2044	.	326	P09467	F16P1_HUMAN	I	326	ENSP00000364475:L326I;ENSP00000408025:L326I	ENSP00000364475:L326I	L	-	1	0	FBP1	96405525	0.298000	0.24417	0.000000	0.03702	0.010000	0.07245	0.526000	0.22971	-1.267000	0.02443	-1.113000	0.02065	CTC		0.587	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1		NM_000507		18	20	1	0	4.96729e-08	0.049695	5.18431e-08	18	20		
PTCH1	5727	broad.mit.edu	37	9	98240410	98240410	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:98240410G>A	ENST00000331920.6	-	9	1573	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000418258.1_Missense_Mutation_p.T274M|PTCH1_ENST00000429896.2_Missense_Mutation_p.T274M|PTCH1_ENST00000437951.1_Missense_Mutation_p.T359M|PTCH1_ENST00000375274.2_Missense_Mutation_p.T424M|PTCH1_ENST00000421141.1_Missense_Mutation_p.T274M|PTCH1_ENST00000430669.2_Missense_Mutation_p.T359M	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	425					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GTCCAGGGTCGTGGTGGTGAA	0.532																																						uc004avk.3		NaN																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(1273-1275)ACG>ATG		patched isoform L							244.0	190.0	208.0					9																	98240410		2203	4300	6503	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98240410G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1274C>T	9.37:g.98240410G>A	ENSP00000332353:p.Thr425Met					PTCH1_uc010mro.2_Missense_Mutation_p.T274M|PTCH1_uc010mrp.2_Missense_Mutation_p.T274M|PTCH1_uc010mrq.2_Missense_Mutation_p.T274M|PTCH1_uc004avl.3_Missense_Mutation_p.T274M|PTCH1_uc010mrr.2_Missense_Mutation_p.T359M|PTCH1_uc004avm.3_Missense_Mutation_p.T424M|PTCH1_uc010mrs.1_Missense_Mutation_p.T145M	p.T425M	NM_000264	NP_000255	Q13635	PTC1_HUMAN			9	1462	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	425			Extracellular (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.1274C>T	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513672	0.85389	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.95885	-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-2.95;-3.84	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	M	0.80422	2.495	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;P;D;P	0.76071	0.987;0.894;0.982;0.874	D	0.97317	0.9941	10	0.44086	T	0.13	-18.3475	19.6898	0.95996	0.0:0.0:1.0:0.0	.	274;359;424;425	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	M	425;359;274;274;359;274;424;142	ENSP00000332353:T425M;ENSP00000389744:T359M;ENSP00000399981:T274M;ENSP00000396135:T274M;ENSP00000410287:T359M;ENSP00000414823:T274M;ENSP00000364423:T424M;ENSP00000364420:T142M	ENSP00000332353:T425M	T	-	2	0	PTCH1	97280231	1.000000	0.71417	0.152000	0.22495	0.974000	0.67602	7.597000	0.82733	2.669000	0.90835	0.655000	0.94253	ACG		0.532	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2		NM_000264		26	68	0	0	0	0.01892	0	26	68		
PAPPA	5069	broad.mit.edu	37	9	119065048	119065048	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:119065048G>A	ENST00000328252.3	+	10	3335	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q	PAPPA_ENST00000534838.1_Missense_Mutation_p.R27Q|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	989					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GAACCCAGCCGGTGCTATTTC	0.453																																						uc004bjn.2		NaN																	0				ovary(4)|skin(4)|pancreas(1)	9						c.(2965-2967)CGG>CAG		pregnancy-associated plasma protein A							81.0	75.0	77.0					9																	119065048		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119065048G>A		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.2966G>A	9.37:g.119065048G>A	ENSP00000330658:p.Arg989Gln					PAPPA_uc011lxp.1_Missense_Mutation_p.R684Q|PAPPA_uc011lxq.1_Missense_Mutation_p.R364Q	p.R989Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN			10	3347	+			989					B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.2966G>A	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196718	0.79015	.	.	ENSG00000182752	ENST00000328252;ENST00000443904;ENST00000534838	T;T	0.46451	0.87;0.87	6.06	5.17	0.71159	.	0.185510	0.56097	N	0.000040	T	0.43055	0.1230	N	0.17474	0.49	0.40681	D	0.982305	B;D;D	0.76494	0.116;0.999;0.994	B;P;P	0.56700	0.008;0.804;0.578	T	0.48222	-0.9054	10	0.52906	T	0.07	-24.9958	15.1132	0.72375	0.0672:0.0:0.9328:0.0	.	27;433;989	F5GZ19;E7EMD3;Q13219	.;.;PAPP1_HUMAN	Q	989;433;27	ENSP00000330658:R989Q;ENSP00000441461:R27Q	ENSP00000330658:R989Q	R	+	2	0	PAPPA	118104869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.932000	0.56537	1.577000	0.49804	0.650000	0.86243	CGG		0.453	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1		NM_002581		18	45	0	0	0	0.043863	0	18	45		
SH2D3C	10044	broad.mit.edu	37	9	130536733	130536733	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:130536733G>C	ENST00000314830.8	-	2	164	c.51C>G	c.(49-51)ttC>ttG	p.F17L	SH2D3C_ENST00000471939.1_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	17					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAAAGCCCTTGAACTTGAAGA	0.473																																						uc004bsc.2		NaN																	0				ovary(1)	1						c.(49-51)TTC>TTG		SH2 domain containing 3C isoform a							49.0	47.0	48.0					9																	130536733		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536733G>C	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.51C>G	9.37:g.130536733G>C	ENSP00000317817:p.Phe17Leu					SH2D3C_uc004bsd.1_5'UTR	p.F17L	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			2	193	-			17					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.51C>G	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.795052	0.50208	.	.	ENSG00000095370	ENST00000314830	T	0.14640	2.49	5.03	2.16	0.27623	.	0.000000	0.64402	D	0.000015	T	0.18257	0.0438	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.10109	-1.0644	10	0.07644	T	0.81	-29.3492	9.1264	0.36818	0.2529:0.0:0.7471:0.0	.	17	Q8N5H7	SH2D3_HUMAN	L	17	ENSP00000317817:F17L	ENSP00000317817:F17L	F	-	3	2	SH2D3C	129576554	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.234000	0.32660	0.660000	0.30964	-0.215000	0.12644	TTC		0.473	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1		NM_005489		5	48	0	0	0	0.014758	0	5	48		
NOTCH1	4851	broad.mit.edu	37	9	139399556	139399556	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139399556G>A	ENST00000277541.6	-	26	4662	c.4587C>T	c.(4585-4587)aaC>aaT	p.N1529N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1529					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTACAGGGGGCTGTGGGGGG	0.731			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(4585-4587)AAC>AAT		notch1 preproprotein							12.0	15.0	14.0					9																	139399556		2072	4197	6269	SO:0001630	splice_region_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399556G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4587-1C>T	9.37:g.139399556G>A		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Silent_p.N759N	p.N1529N	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	26	4587	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1529			Extracellular (Potential).|LNR 2.		Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	c.4587C>T	CCDS43905.1																																																																																				0.731	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617	Silent	16	18	0	0	0	0.038395	0	16	18		
BMX	660	broad.mit.edu	37	X	15552335	15552335	+	Splice_Site	SNP	T	T	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:15552335T>A	ENST00000357607.2	+	12	1208	c.1020T>A	c.(1018-1020)aaT>aaA	p.N340K	BMX_ENST00000348343.6_Splice_Site_p.N340K|BMX_ENST00000342014.6_Splice_Site_p.N340K			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	340	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)|signal transduction (GO:0007165)	cytosol (GO:0005829)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CTGTTACTAGTGATAAAAAAG	0.303																																						uc004cww.2		NaN																	0				lung(3)|ovary(2)	5						c.(1018-1020)AAT>AAA		BMX non-receptor tyrosine kinase							100.0	98.0	98.0					X																	15552335		2203	4299	6502	SO:0001630	splice_region_variant	660				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	g.chrX:15552335T>A	AF045459	CCDS14168.1	Xp22.2	2013-05-14			ENSG00000102010	ENSG00000102010		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1079	protein-coding gene	gene with protein product	"""BTK-like on X chromosome"""	300101				7970727	Standard	NM_203281		Approved	ETK, PSCTK3	uc004cwx.4	P51813	OTTHUMG00000021180	ENST00000357607.2:c.1020-1T>A	X.37:g.15552335T>A						BMX_uc004cwx.3_Missense_Mutation_p.N340K|BMX_uc004cwy.3_Missense_Mutation_p.N340K	p.N340K	NM_203281	NP_975010	P51813	BMX_HUMAN			12	1208	+	Hepatocellular(33;0.183)		340			SH2.		A6NIH9|O60564|Q12871	Missense_Mutation	SNP	ENST00000357607.2	37	c.1020T>A	CCDS14168.1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.851033	0.32699	.	.	ENSG00000102010	ENST00000357607;ENST00000348343;ENST00000342014	T;T;T	0.75821	-0.97;-0.97;-0.97	5.1	3.91	0.45181	SH2 motif (4);	0.217670	0.35096	N	0.003446	T	0.56746	0.2006	N	0.20986	0.625	0.40400	D	0.979638	B	0.09022	0.002	B	0.12156	0.007	T	0.44267	-0.9339	9	.	.	.	.	8.3283	0.32171	0.3176:0.0:0.0:0.6823	.	340	P51813	BMX_HUMAN	K	340	ENSP00000350224:N340K;ENSP00000308774:N340K;ENSP00000340082:N340K	.	N	+	3	2	BMX	15462256	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	1.364000	0.34171	0.575000	0.29434	0.486000	0.48141	AAT		0.303	BMX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055877.1		NM_001721	Missense_Mutation	16	54	0	0	0	0.028581	0	16	54		
KLHL34	257240	broad.mit.edu	37	X	21675187	21675187	+	Silent	SNP	A	A	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:21675187A>G	ENST00000379499.2	-	1	1261	c.720T>C	c.(718-720)tcT>tcC	p.S240S		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	240						extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCACGAGGCCAGAGCCCGAGT	0.672																																						uc004czz.1		NaN																	0				ovary(1)	1						c.(718-720)TCT>TCC		kelch-like 34							18.0	18.0	18.0					X																	21675187		2198	4287	6485	SO:0001819	synonymous_variant	257240							g.chrX:21675187A>G	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.720T>C	X.37:g.21675187A>G							p.S240S	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			1	1262	-			240						Silent	SNP	ENST00000379499.2	37	c.720T>C	CCDS14199.1																																																																																				0.672	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1		NM_153270		6	19	0	0	0	0.021553	0	6	19		
KLHL15	80311	broad.mit.edu	37	X	24024257	24024257	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:24024257T>C	ENST00000328046.8	-	3	809	c.554A>G	c.(553-555)gAt>gGt	p.D185G		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	185	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						ATGATCATTATCCAAGTAAGA	0.478																																						uc004dba.3		NaN																	0				ovary(1)|breast(1)	2						c.(553-555)GAT>GGT		kelch-like 15							148.0	125.0	133.0					X																	24024257		2203	4300	6503	SO:0001583	missense	80311							g.chrX:24024257T>C	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.554A>G	X.37:g.24024257T>C	ENSP00000332791:p.Asp185Gly						p.D185G	NM_030624	NP_085127	Q96M94	KLH15_HUMAN			3	810	-			185			BACK.		Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Missense_Mutation	SNP	ENST00000328046.8	37	c.554A>G	CCDS35217.1	.	.	.	.	.	.	.	.	.	.	T	9.324	1.058906	0.19987	.	.	ENSG00000174010	ENST00000328046	T	0.68331	-0.32	5.52	5.52	0.82312	BTB/Kelch-associated (2);	0.092218	0.85682	D	0.000000	T	0.56077	0.1961	N	0.19112	0.55	0.46654	D	0.999146	B	0.20164	0.042	B	0.29077	0.098	T	0.55062	-0.8199	10	0.54805	T	0.06	.	14.6658	0.68907	0.0:0.0:0.0:1.0	.	185	Q96M94	KLH15_HUMAN	G	185	ENSP00000332791:D185G	ENSP00000332791:D185G	D	-	2	0	KLHL15	23934178	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	4.776000	0.62354	1.845000	0.53610	0.441000	0.28932	GAT		0.478	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1		XM_040383		79	17	0	0	0	0.048971	0	79	17		
UBQLN2	29978	broad.mit.edu	37	X	56591910	56591910	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:56591910G>A	ENST00000338222.5	+	1	1885	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	535					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGCCCCACGGGGCCTACTGTG	0.622																																					Esophageal Squamous(104;218 1492 6022 10838 28884)	uc004dus.2		NaN																	0				ovary(1)|skin(1)	2						c.(1603-1605)GGG>GAG		ubiquilin 2							13.0	12.0	12.0					X																	56591910		2199	4290	6489	SO:0001583	missense	29978					cytoplasm|nucleus|plasma membrane	binding	g.chrX:56591910G>A	AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.1604G>A	X.37:g.56591910G>A	ENSP00000345195:p.Gly535Glu					UBQLN2_uc011moq.1_Intron	p.G535E	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN			1	1839	+			535					O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	c.1604G>A	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.954444	0.00050	.	.	ENSG00000188021	ENST00000338222	D	0.85629	-2.01	4.55	2.71	0.32032	.	0.279466	0.29932	N	0.010829	T	0.75598	0.3871	L	0.38175	1.15	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.55976	-0.8055	10	0.15066	T	0.55	-0.3805	11.384	0.49773	0.0:0.4105:0.5895:0.0	.	535	Q9UHD9	UBQL2_HUMAN	E	535	ENSP00000345195:G535E	ENSP00000345195:G535E	G	+	2	0	UBQLN2	56608635	0.205000	0.23458	0.434000	0.26772	0.082000	0.17680	0.770000	0.26618	0.439000	0.26476	0.594000	0.82650	GGG		0.622	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1		NM_013444		5	1	0	0	0	0.021553	0	5	1		
STAG2	10735	broad.mit.edu	37	X	123196751	123196751	+	Splice_Site	SNP	G	G	A			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:123196751G>A	ENST00000371160.1	+	18	1928		c.e18-1		STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371145.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGTTCCTTTAGGTGCTTACAG	0.343																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.e17-1		stromal antigen 2 isoform b							77.0	71.0	73.0					X																	123196751		2202	4300	6502	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123196751G>A	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1639-1G>A	X.37:g.123196751G>A						STAG2_uc004eua.2_Splice_Site_p.V547_splice|STAG2_uc004eub.2_Splice_Site_p.V547_splice|STAG2_uc004euc.2_Splice_Site_p.V547_splice|STAG2_uc004eud.2_Splice_Site_p.V547_splice|STAG2_uc004eue.2_Splice_Site_p.V547_splice	p.V547_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			17	1978	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.1639_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985657	0.74589	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.78	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9507	0.64116	0.0746:0.0:0.9254:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123024432	1.000000	0.71417	0.950000	0.38849	0.862000	0.49288	9.867000	0.99620	1.199000	0.43173	0.538000	0.68166	.		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603	Intron	29	8	0	0	0	0.037714	0	29	8		
MYRF	745	broad.mit.edu	37	11	61536739	61536739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr11:61536739delC	ENST00000278836.5	+	4	502	c.406delC	c.(406-408)ccgfs	p.P136fs	MYRF_ENST00000265460.5_Frame_Shift_Del_p.P127fs|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1	Q9Y2G1	MRF_HUMAN	myelin regulatory factor	136	Pro-rich.				central nervous system myelin maintenance (GO:0032286)|central nervous system myelination (GO:0022010)|oligodendrocyte development (GO:0014003)|oligodendrocyte differentiation (GO:0048709)|positive regulation of myelination (GO:0031643)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CAGCACACTGCCGGACTCTCC	0.682																																						uc001nsc.1		NaN																	0				breast(1)	1						c.(406-408)CCGfs		myelin gene regulatory factor isoform 2							19.0	20.0	20.0					11																	61536739		2198	4296	6494	SO:0001589	frameshift_variant	745				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:61536739delC		CCDS31579.1, CCDS44622.1	11q12-q13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000124920	ENSG00000124920			1181	protein-coding gene	gene with protein product	"""myelin gene regulatory factor"""	608329	"""chromosome 11 open reading frame 9"""	C11orf9		10828591, 12384578	Standard	NM_001127392		Approved	Ndt80, pqn-47, MRF	uc001nsc.1	Q9Y2G1	OTTHUMG00000168161	ENST00000278836.5:c.406delC	11.37:g.61536739delC	ENSP00000278836:p.Pro136fs					C11orf9_uc001nse.1_Frame_Shift_Del_p.P127fs	p.P136fs	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN			4	502	+			136			Pro-rich.		O43582|Q9P1Q6	Frame_Shift_Del	DEL	ENST00000278836.5	37	c.406delC	CCDS44622.1																																																																																				0.682	MYRF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398519.2		NM_013279		5	4	NaN	NaN	NaN	NaN	NaN	5	4	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45567306	45567306	+	RNA	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:45567306delA	ENST00000256692.5	-	0	1379					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAGTTCCTAACCTGGGCTA	0.418																																						uc001rom.1		NaN																	0					0						c.(841-843)GTTfs		pleckstrin homology domain containing, family A							80.0	80.0	80.0					12																	45567306		2203	4300	6503			51054							g.chr12:45567306delA	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567306delA						PLEKHA9_uc009zke.2_Frame_Shift_Del_p.V281fs	p.V281fs	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1380	-	Lung SC(27;0.192)|Renal(347;0.236)								Frame_Shift_Del	DEL	ENST00000256692.5	37	c.843delT																																																																																					0.418	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1		NR_037144		33	57	NaN	NaN	NaN	NaN	NaN	33	57	---	---
KMT2D	8085	broad.mit.edu	37	12	49425478	49425478	+	Frame_Shift_Del	DEL	G	G	-	rs369802222		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49425478delG	ENST00000301067.7	-	39	13009	c.13010delC	c.(13009-13011)cctfs	p.P4338fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4338	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ATGGGTGGGAGGGAGCTGGGC	0.617																																						uc001rta.3		NaN								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(13009-13011)CCTfs		myeloid/lymphoid or mixed-lineage leukemia 2							36.0	37.0	37.0					12																	49425478		1927	4124	6051	SO:0001589	frameshift_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49425478delG	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13010delC	12.37:g.49425478delG	ENSP00000301067:p.Pro4338fs	HNSCC(34;0.089)					p.P4337fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			39	13010	-			4337			Pro-rich.		O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.13010delC	CCDS44873.1																																																																																				0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2				17	16	NaN	NaN	NaN	NaN	NaN	17	16	---	---
FAM186B	84070	broad.mit.edu	37	12	49994518	49994518	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr12:49994518delC	ENST00000257894.2	-	4	1066	c.905delG	c.(904-906)ggafs	p.G302fs	FAM186B_ENST00000544141.1_Frame_Shift_Del_p.G212fs|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	302						protein complex (GO:0043234)				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGGTACCTTCCCCCTAAGAT	0.542																																						uc001ruo.2		NaN																	0				ovary(1)	1						c.(904-906)GGAfs		hypothetical protein LOC84070							147.0	135.0	139.0					12																	49994518		2203	4300	6503	SO:0001589	frameshift_variant	84070					protein complex		g.chr12:49994518delC	AL136748	CCDS8788.1	12q13.12	2008-09-17	2008-09-17	2008-09-17	ENSG00000135436	ENSG00000135436			25296	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 25"""	C12orf25		11230166	Standard	NM_032130		Approved	DKFZP434J0113	uc001ruo.3	Q8IYM0	OTTHUMG00000167427	ENST00000257894.2:c.905delG	12.37:g.49994518delC	ENSP00000257894:p.Gly302fs					FAM186B_uc010smk.1_Frame_Shift_Del_p.G212fs	p.G302fs	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN			4	1078	-			302					B4DZ15|Q8TCP7|Q9H0L3	Frame_Shift_Del	DEL	ENST00000257894.2	37	c.905delG	CCDS8788.1																																																																																				0.542	FAM186B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394583.2		NM_032130		20	226	NaN	NaN	NaN	NaN	NaN	20	226	---	---
MBD1	4152	broad.mit.edu	37	18	47802020	47802020	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr18:47802020delG	ENST00000591416.1	-	8	1173	c.742delC	c.(742-744)cgcfs	p.R248fs	MBD1_ENST00000398493.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000424334.2_Frame_Shift_Del_p.R274fs|MBD1_ENST00000398488.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000587605.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000398495.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000457839.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000339998.6_Frame_Shift_Del_p.R248fs|MBD1_ENST00000349085.2_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269468.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000588937.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585595.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000347968.3_Frame_Shift_Del_p.R248fs|MBD1_ENST00000269471.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000436910.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000591535.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000590208.1_Frame_Shift_Del_p.R248fs|MBD1_ENST00000353909.3_Frame_Shift_Del_p.R199fs|MBD1_ENST00000382948.5_Frame_Shift_Del_p.R248fs|MBD1_ENST00000585672.1_Frame_Shift_Del_p.R199fs			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	248					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.R248C(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AGACCAGGGCGGGGAGGGCGA	0.632																																						uc010dow.1		NaN																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)|central_nervous_system(1)	2						c.(742-744)CGCfs		methyl-CpG binding domain protein 1 isoform 1							53.0	50.0	51.0					18																	47802020		2203	4300	6503	SO:0001589	frameshift_variant	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47802020delG	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.742delC	18.37:g.47802020delG	ENSP00000467017:p.Arg248fs					MBD1_uc002lef.2_Frame_Shift_Del_p.R30fs|MBD1_uc002leg.2_Frame_Shift_Del_p.R199fs|MBD1_uc010xdi.1_Frame_Shift_Del_p.R274fs|MBD1_uc002leh.3_Frame_Shift_Del_p.R248fs|MBD1_uc002len.2_Frame_Shift_Del_p.R248fs|MBD1_uc002lei.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lej.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lek.3_Frame_Shift_Del_p.R199fs|MBD1_uc002lel.3_Frame_Shift_Del_p.R248fs|MBD1_uc002lem.3_Frame_Shift_Del_p.R248fs|MBD1_uc010xdj.1_Frame_Shift_Del_p.R248fs|MBD1_uc010xdk.1_Frame_Shift_Del_p.R248fs|MBD1_uc010dox.1_Frame_Shift_Del_p.R248fs|MBD1_uc002leo.2_Frame_Shift_Del_p.R248fs	p.R248fs	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			8	1179	-			248			CXXC-type 2.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Frame_Shift_Del	DEL	ENST00000591416.1	37	c.742delC	CCDS11943.1																																																																																				0.632	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		28	49	NaN	NaN	NaN	NaN	NaN	28	49	---	---
NEB	4703	broad.mit.edu	37	2	152420419	152420419	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:152420419delC	ENST00000172853.10	-	90	13541	c.13394delG	c.(13393-13395)ggcfs	p.G4465fs	NEB_ENST00000397345.3_Frame_Shift_Del_p.G6166fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.G6166fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.G4465fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.G6166fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.G6166fs			P20929	NEBU_HUMAN	nebulin	4465					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTGGTGCCCTCCCACGC	0.443																																						uc010fnx.2		NaN																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(13393-13395)GGCfs		nebulin isoform 3							62.0	62.0	62.0					2																	152420419		1943	4150	6093	SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152420419delC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13394delG	2.37:g.152420419delC	ENSP00000172853:p.Gly4465fs					NEB_uc002txr.2_Frame_Shift_Del_p.G888fs	p.G4465fs	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	90	13585	-			4465			Nebulin 122.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37	c.13394delG																																																																																					0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		10	19	NaN	NaN	NaN	NaN	NaN	10	19	---	---
PGAP1	80055	broad.mit.edu	37	2	197781295	197781295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:197781295delT	ENST00000354764.4	-	3	438	c.324delA	c.(322-324)gcafs	p.A108fs	PGAP1_ENST00000409188.1_Frame_Shift_Del_p.A66fs|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409475.1_Frame_Shift_Del_p.A108fs	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	108					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CTTTTCTAAGTGCAATGGAGC	0.378																																						uc002utw.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(322-324)GCAfs		GPI deacylase							75.0	68.0	70.0					2																	197781295		2203	4300	6503	SO:0001589	frameshift_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197781295delT		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.324delA	2.37:g.197781295delT	ENSP00000346809:p.Ala108fs					PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Frame_Shift_Del_p.A108fs|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	p.A108fs	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN			3	438	-			108			Lumenal (Potential).		Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Frame_Shift_Del	DEL	ENST00000354764.4	37	c.324delA	CCDS2318.1																																																																																				0.378	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5		NM_024989		28	26	NaN	NaN	NaN	NaN	NaN	28	26	---	---
COL4A4	1286	broad.mit.edu	37	2	227906897	227906897	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr2:227906897delC	ENST00000396625.3	-	37	3679	c.3472delG	c.(3472-3474)gatfs	p.D1158fs	COL4A4_ENST00000329662.7_Frame_Shift_Del_p.D1158fs	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1158	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCCCTGGATCCCCCTGGAGG	0.542																																						uc010zlt.1		NaN																	0				ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11						c.(3472-3474)GATfs		alpha 4 type IV collagen precursor							142.0	138.0	139.0					2																	227906897		1865	4101	5966	SO:0001589	frameshift_variant	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227906897delC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.3472delG	2.37:g.227906897delC	ENSP00000379866:p.Asp1158fs						p.D1158fs	NM_000092	NP_000083	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	37	4126	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1158			Triple-helical region.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Frame_Shift_Del	DEL	ENST00000396625.3	37	c.3472delG	CCDS42828.1																																																																																				0.542	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092		41	98	NaN	NaN	NaN	NaN	NaN	41	98	---	---
MCTP1	79772	broad.mit.edu	37	5	94207113	94207113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr5:94207113delT	ENST00000515393.1	-	14	2045	c.2046delA	c.(2044-2046)aaafs	p.K682fs	MCTP1_ENST00000505078.1_Frame_Shift_Del_p.K198fs|MCTP1_ENST00000429576.2_Frame_Shift_Del_p.K415fs|MCTP1_ENST00000505208.1_Frame_Shift_Del_p.K461fs|MCTP1_ENST00000312216.8_Frame_Shift_Del_p.K461fs	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	682	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AATGGATATCTTTAATGTTGC	0.338																																						uc003kkx.2		NaN																	0				ovary(2)	2						c.(2044-2046)AAAfs		multiple C2 domains, transmembrane 1 isoform L							78.0	74.0	76.0					5																	94207113		2203	4300	6503	SO:0001589	frameshift_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94207113delT		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2046delA	5.37:g.94207113delT	ENSP00000424126:p.Lys682fs					MCTP1_uc003kkv.2_Frame_Shift_Del_p.K461fs|MCTP1_uc003kkw.2_Frame_Shift_Del_p.K415fs|MCTP1_uc003kkz.2_Frame_Shift_Del_p.K343fs|MCTP1_uc003kku.2_Frame_Shift_Del_p.K198fs	p.K682fs	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	14	2046	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	682			C2 3.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Frame_Shift_Del	DEL	ENST00000515393.1	37	c.2046delA	CCDS34203.1																																																																																				0.338	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3		NM_024717		25	36	NaN	NaN	NaN	NaN	NaN	25	36	---	---
DNAH8	1769	broad.mit.edu	37	6	38810224	38810224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:38810224delT	ENST00000359357.3	+	32	4150	c.3896delT	c.(3895-3897)cttfs	p.L1299fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.L1299fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.L1516fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1299					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)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGAAATACTTTGGGGAGAT	0.343																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(3895-3897)CTTfs		dynein, axonemal, heavy polypeptide 8							113.0	118.0	116.0					6																	38810224		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38810224delT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3896delT	6.37:g.38810224delT	ENSP00000352312:p.Leu1299fs						p.L1299fs	NM_001371	NP_001362					32	4496	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.3896delT																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		30	72	NaN	NaN	NaN	NaN	NaN	30	72	---	---
TRERF1	55809	broad.mit.edu	37	6	42236492	42236492	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr6:42236492delC	ENST00000372922.4	-	5	1399	c.837delG	c.(835-837)gggfs	p.G279fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.G279fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.G279fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	279	Gln-rich.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TACGCTGTTGCCCGGCTTGCT	0.597																																						uc003osd.2		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(835-837)GGGfs		transcriptional regulating factor 1							67.0	62.0	64.0					6																	42236492		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42236492delC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.837delG	6.37:g.42236492delC	ENSP00000362013:p.Gly279fs					TRERF1_uc011duq.1_Frame_Shift_Del_p.G279fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.G118fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.G279fs	p.G279fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1400	-	Colorectal(47;0.196)		279			Gln-rich.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.837delG	CCDS4867.1																																																																																				0.597	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2		NM_033502		64	118	NaN	NaN	NaN	NaN	NaN	64	118	---	---
SLC4A2	6522	broad.mit.edu	37	7	150761698	150761698	+	Frame_Shift_Del	DEL	C	C	-	rs545256109		TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:150761698delC	ENST00000485713.1	+	4	1343	c.303delC	c.(301-303)ggcfs	p.G101fs	SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.G87fs|SLC4A2_ENST00000310317.5_Splice_Site|SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.G101fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.G92fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	101	Pro-rich.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCCCAGGGCCCAGGACGGA	0.682																																						uc003wit.3		NaN																	0					0						c.(301-303)GGCfs		solute carrier family 4, anion exchanger, member							44.0	54.0	51.0					7																	150761698		2200	4296	6496	SO:0001589	frameshift_variant	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150761698delC		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.303delC	7.37:g.150761698delC	ENSP00000419412:p.Gly101fs					SLC4A2_uc011kve.1_Frame_Shift_Del_p.G92fs|SLC4A2_uc003wiu.3_Frame_Shift_Del_p.G87fs	p.G101fs	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	559	+			101			Cytoplasmic (Potential).|Pro-rich.		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Del	DEL	ENST00000485713.1	37	c.303delC	CCDS5917.1																																																																																				0.682	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1		NM_003040		55	75	NaN	NaN	NaN	NaN	NaN	55	75	---	---
KMT2C	58508	broad.mit.edu	37	7	151877847	151877847	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08			A	-	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr7:151877847delA	ENST00000262189.6	-	36	7316	c.7098delT	c.(7096-7098)gatfs	p.D2366fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.D2366fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2366					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TATTCTGTGTATCAGTTACTC	0.428																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7096-7098)GATfs		myeloid/lymphoid or mixed-lineage leukemia 3							78.0	74.0	75.0					7																	151877847		2203	4300	6503	SO:0001589	frameshift_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151877847delA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7098delT	7.37:g.151877847delA	ENSP00000262189:p.Asp2366fs					MLL3_uc003wkz.2_Frame_Shift_Del_p.D1427fs|MLL3_uc003wky.2_5'Flank	p.D2366fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	36	7317	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2366					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.7098delT	CCDS5931.1																																																																																				0.428	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3				40	28	NaN	NaN	NaN	NaN	NaN	40	28	---	---
MROH6	642475	broad.mit.edu	37	8	144650796	144650796	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr8:144650796delG	ENST00000398882.3	-	10	1826	c.1570delC	c.(1570-1572)ctgfs	p.L524fs	MROH6_ENST00000533679.1_5'UTR|MROH6_ENST00000532704.1_5'Flank|MROH6_ENST00000534459.1_5'UTR|MROH6_ENST00000524906.1_5'UTR	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6	524	Leu-rich.																AGCTTCCGCAgggggccgcgg	0.736																																						uc010mff.2		NaN																	0				ovary(1)	1						c.(1570-1572)CTGfs		hypothetical protein LOC642475							3.0	4.0	3.0					8																	144650796		1590	3547	5137	SO:0001589	frameshift_variant	642475						binding	g.chr8:144650796delG	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164	ENST00000398882.3:c.1570delC	8.37:g.144650796delG	ENSP00000381857:p.Leu524fs					C8orf73_uc010mfg.1_Frame_Shift_Del_p.P536fs	p.L524fs	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)		10	1614	-	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		524			Leu-rich.		A8MWB1	Frame_Shift_Del	DEL	ENST00000398882.3	37	c.1570delC	CCDS47928.1																																																																																				0.736	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3		NM_001100878		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
NOTCH1	4851	broad.mit.edu	37	9	139395013	139395025	+	Frame_Shift_Del	DEL	ACCTTGTGCGTCG	ACCTTGTGCGTCG	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chr9:139395013_139395025delACCTTGTGCGTCG	ENST00000277541.6	-	31	5988_6000	c.5913_5925delCGACGCACAAGGT	c.(5911-5925)gccgacgcacaaggtfs	p.ADAQG1971fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1971					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTGGAAGACACCTTGTGCGTCGGCAGACACAG	0.676			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5911-5925)GCCGACGCACAAGGTfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395013_139395025delACCTTGTGCGTCG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5913_5925delCGACGCACAAGGT	9.37:g.139395013_139395025delACCTTGTGCGTCG	ENSP00000277541:p.Ala1971fs	HNSCC(8;0.001)					p.A1971fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5913_5925	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1971_1975			ANK 2.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.5913_5925delCGACGCACAAGGT	CCDS43905.1																																																																																				0.676	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		36	120	NaN	NaN	NaN	NaN	NaN	36	120	---	---
DDX3X	1654	broad.mit.edu	37	X	41205816	41205818	+	In_Frame_Del	DEL	CAA	CAA	-			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:41205816_41205818delCAA	ENST00000399959.2	+	14	2411_2413	c.1556_1558delCAA	c.(1555-1560)ccaagt>cgt	p.519_520PS>R	DDX3X_ENST00000457138.2_In_Frame_Del_p.503_504PS>R|DDX3X_ENST00000441189.2_Intron|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	519	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTTGACTTGCCAAGTGATATTGA	0.36										HNSCC(61;0.18)																												uc004dfe.2		NaN																	0				ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1555-1560)CCAAGT>CGT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3																																				SO:0001651	inframe_deletion	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41205816_41205818delCAA	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1556_1558delCAA	X.37:g.41205816_41205818delCAA	ENSP00000382840:p.Pro519_Ser520delinsArg	HNSCC(61;0.18)				DDX3X_uc004dff.2_In_Frame_Del_p.519_520PS>R|DDX3X_uc011mkq.1_In_Frame_Del_p.503_504PS>R|DDX3X_uc011mkr.1_Intron|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA	p.519_520PS>R	NM_001356	NP_001347	O00571	DDX3X_HUMAN			14	2411_2413	+			519_520			Helicase C-terminal.		A8K538|B4E3E8|O15536	In_Frame_Del	DEL	ENST00000399959.2	37	c.1556_1558delCAA	CCDS43931.1																																																																																				0.360	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1		NM_024005		10	76	NaN	NaN	NaN	NaN	NaN	10	76	---	---
PCDH19	57526	broad.mit.edu	37	X	99661761	99661762	+	Frame_Shift_Ins	INS	-	-	G			TCGA-E7-A3Y1-01A-11D-A22Z-08	TCGA-E7-A3Y1-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afb4bcde-56d9-42cb-b89d-9fc8559b3fa3	bf2c0de5-987d-420b-b60a-96b70ec19a41	g.chrX:99661761_99661762insG	ENST00000373034.4	-	1	3509_3510	c.1834_1835insC	c.(1834-1836)cgcfs	p.R612fs	PCDH19_ENST00000420881.2_Frame_Shift_Ins_p.R612fs|PCDH19_ENST00000255531.7_Frame_Shift_Ins_p.R612fs	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AAAGAAGCCGCGGTCGCCCTCG	0.564																																						uc010nmz.2		NaN																	0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1834-1836)CGCfs		protocadherin 19 isoform b																																				SO:0001589	frameshift_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661761_99661762insG	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1835dupC	X.37:g.99661763_99661763dupG	ENSP00000362125:p.Arg612fs					PCDH19_uc004efw.3_Frame_Shift_Ins_p.R612fs|PCDH19_uc004efx.3_Frame_Shift_Ins_p.R612fs	p.R612fs	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3510_3511	-			612			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Frame_Shift_Ins	INS	ENST00000373034.4	37	c.1834_1835insC	CCDS55462.1																																																																																				0.564	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2		NM_020766		42	11	NaN	NaN	NaN	NaN	NaN	42	11	---	---
