#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CFAP74	85452	broad.mit.edu	37	1	1902133	1902133	+	IGR	SNP	G	G	A	rs200829667	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:1902133G>A								TMEM52 (51421 upstream) : C1orf222 (17429 downstream)																							GCCGGCGCTGGTGGACAAGGT	0.677																																						uc001aim.1																			0				pancreas(1)	1						c.(1009-1011)CAC>CAT		hypothetical protein LOC85452							45.0	53.0	51.0					1																	1902133		2125	4230	6355	SO:0001628	intergenic_variant	85452							g.chr1:1902133G>A																													1.37:g.1902133G>A						KIAA1751_uc009vkz.1_Silent_p.H337H	p.H337H	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)	10	1167	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	337			Potential.			Silent	SNP		37	c.1011C>T																																																																																				0	0.677								
CHD5	26038	broad.mit.edu	37	1	6195434	6195434	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:6195434G>A	ENST00000262450.3	-	18	2825	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGTCAGCAAACTCCTC	0.602																																						uc001amb.1																			0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2725-2727)GCT>GTT		chromodomain helicase DNA binding protein 5							60.0	59.0	59.0					1																	6195434		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6195434G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2726C>T	1.37:g.6195434G>A	ENSP00000262450:p.Ala909Val					CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA	p.A909V	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	18	2826	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	909					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2726C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153305	0.94645	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.93366	-3.21	4.8	4.8	0.61643	SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.94069	0.8099	N	0.20881	0.62	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.95364	0.8458	10	0.87932	D	0	-15.8122	18.2357	0.89948	0.0:0.0:1.0:0.0	.	909	Q8TDI0	CHD5_HUMAN	V	909;425;317;317	ENSP00000262450:A909V	ENSP00000262450:A909V	A	-	2	0	CHD5	6118021	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	9.631000	0.98424	2.392000	0.81423	0.561000	0.74099	GCT		0.602	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
ZMYM4	9202	broad.mit.edu	37	1	35836122	35836122	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:35836122G>T	ENST00000314607.6	+	7	1155	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZMYM4_ENST00000373297.2_Missense_Mutation_p.G359W|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	359					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGGTCTACTCA	0.483																																						uc001byt.2																			0				large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1075-1077)GGG>TGG		zinc finger protein 262							97.0	97.0	97.0					1																	35836122		2203	4300	6503	SO:0001583	missense	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35836122G>T	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1075G>T	1.37:g.35836122G>T	ENSP00000322915:p.Gly359Trp					ZMYM4_uc009vuu.2_Missense_Mutation_p.G327W|ZMYM4_uc001byu.2_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.2_Missense_Mutation_p.G98W|uc001byv.2_5'Flank	p.G359W	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN			7	1155	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	359					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	c.1075G>T	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.843724|4.843724	0.91197|0.91197	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.64085|.	-0.08;-0.08|.	5.48|5.48	5.48|5.48	0.80851|0.80851	TRASH (1);Zinc finger, MYM-type (1);|.	0.054657|.	0.64402|.	D|.	0.000001|.	T|T	0.76730|0.76730	0.4028|0.4028	M|M	0.73962|0.73962	2.25|2.25	0.35299|0.35299	D|D	0.782902|0.782902	B|.	0.31383|.	0.321|.	P|.	0.46320|.	0.512|.	T|T	0.81382|0.81382	-0.0958|-0.0958	10|5	0.72032|.	D|.	0.01|.	-7.2842|-7.2842	19.3456|19.3456	0.94361|0.94361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	359|.	Q5VZL5|.	ZMYM4_HUMAN|.	W|M	359|107	ENSP00000322915:G359W;ENSP00000362394:G359W|.	ENSP00000322915:G359W|.	G|R	+|+	1|2	0|0	ZMYM4|ZMYM4	35608709|35608709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.516000|8.516000	0.90552|0.90552	2.573000|2.573000	0.86826|0.86826	0.591000|0.591000	0.81541|0.81541	GGG|AGG		0.483	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
EPS15	2060	broad.mit.edu	37	1	51869155	51869155	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:51869155T>C	ENST00000371733.3	-	17	1823	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	EPS15_ENST00000371730.2_Missense_Mutation_p.E442G|EPS15_ENST00000396122.4_Missense_Mutation_p.E253G|EPS15_ENST00000493793.1_5'UTR	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	576					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTAGTCACCTCATTTTCATC	0.338			T	MLL	ALL																																	uc001csq.1				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		2	Whole gene deletion(2)		thyroid(1)|central_nervous_system(1)	lung(1)|kidney(1)	2						c.(1726-1728)GAG>GGG		epidermal growth factor receptor pathway							108.0	106.0	107.0					1																	51869155		2203	4300	6503	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51869155T>C	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1727A>G	1.37:g.51869155T>C	ENSP00000360798:p.Glu576Gly					EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G	p.E576G	NM_001981	NP_001972	P42566	EPS15_HUMAN			17	1819	-			576					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1727A>G	CCDS557.1	.	.	.	.	.	.	.	.	.	.	T	9.032	0.987490	0.18966	.	.	ENSG00000085832	ENST00000371730;ENST00000371733;ENST00000396122	T;T;T	0.25579	1.79;2.27;2.79	4.6	2.18	0.27775	.	0.000000	0.33144	N	0.005233	T	0.28962	0.0719	N	0.16478	0.41	0.21064	N	0.999797	D;D;P	0.89917	0.976;1.0;0.72	P;D;B	0.87578	0.626;0.998;0.42	T	0.04427	-1.0952	10	0.51188	T	0.08	.	7.5361	0.27710	0.1403:0.0:0.1466:0.7131	.	442;576;262	B1AUU8;P42566;P42566-2	.;EPS15_HUMAN;.	G	442;576;253	ENSP00000360795:E442G;ENSP00000360798:E576G;ENSP00000379428:E253G	ENSP00000360795:E442G	E	-	2	0	EPS15	51641743	0.849000	0.29639	0.164000	0.22755	0.092000	0.18411	2.665000	0.46791	0.464000	0.27142	-0.468000	0.05107	GAG		0.338	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
ECHDC2	55268	broad.mit.edu	37	1	53370462	53370462	+	Silent	SNP	C	C	T	rs376747011		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:53370462C>T	ENST00000371522.4	-	7	651	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ECHDC2_ENST00000358358.5_Silent_p.A155A|ECHDC2_ENST00000536120.1_Silent_p.A140A	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	186					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGAGCTCCTTCGCCAGGGCCA	0.642																																						uc001cup.3																			0				central_nervous_system(1)	1						c.(556-558)GCG>GCA		enoyl Coenzyme A hydratase domain containing 2		C	,,	0,4406		0,0,2203	44.0	40.0	42.0		558,465,465	-8.1	0.8	1		42	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ECHDC2	NM_001198961.1,NM_001198962.1,NM_018281.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	186/293,155/245,155/262	53370462	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53370462C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.558G>A	1.37:g.53370462C>T						ECHDC2_uc001cun.2_Silent_p.A109A|ECHDC2_uc001cuo.3_Silent_p.A155A|ECHDC2_uc010onk.1_Silent_p.A140A	p.A186A	NM_018281	NP_060751	Q86YB7	ECHD2_HUMAN			7	804	-			186					D3DQ36|Q9NV38	Silent	SNP	ENST00000371522.4	37	c.558G>A	CCDS55600.1																																																																																				0.642	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281	
AMY2B	280	broad.mit.edu	37	1	104115707	104115710	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:104115707_104115710delTAAT	ENST00000361355.4	+	5	954_957	c.338_341delTAAT	c.(337-342)gtaattfs	p.VI113fs	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	113					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGATGCTGTAATTAATCATATG	0.387																																						uc001duq.2																			0					0						c.(337-342)GTAATTfs		amylase, pancreatic, alpha-2B precursor																																				SO:0001589	frameshift_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104115707_104115710delTAAT	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.338_341delTAAT	1.37:g.104115711_104115714delTAAT	ENSP00000354610:p.Val113fs					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank	p.V113fs	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	5	954_957	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	113_114					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Frame_Shift_Del	DEL	ENST00000361355.4	37	c.338_341delTAAT	CCDS782.1																																																																																				0.387	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	
TXNIP	10628	broad.mit.edu	37	1	145439050	145439050	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:145439050C>A	ENST00000369317.4	+	1	582	c.248C>A	c.(247-249)aCa>aAa	p.T83K	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	83					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCAGCCAACAGGTAAGCGG	0.463																																						uc001enn.3																			0				ovary(2)	2						c.(247-249)ACA>AAA		thioredoxin interacting protein							65.0	66.0	66.0					1																	145439050		2203	4300	6503	SO:0001583	missense	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439050C>A	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.248C>A	1.37:g.145439050C>A	ENSP00000358323:p.Thr83Lys					NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank	p.T83K	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			1	589	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		83					B4E3D3|Q16226|Q6PML0|Q9BXG9	Missense_Mutation	SNP	ENST00000369317.4	37	c.248C>A	CCDS913.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624208	0.66901	.	.	ENSG00000117289	ENST00000369317	T	0.12774	2.65	5.27	5.27	0.74061	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	2.243970	0.01464	N	0.015989	T	0.07908	0.0198	L	0.56769	1.78	0.50467	D	0.999871	B	0.06786	0.001	B	0.06405	0.002	T	0.61715	-0.7006	10	0.05620	T	0.96	17.5029	16.4403	0.83898	0.0:1.0:0.0:0.0	.	83	Q9H3M7	TXNIP_HUMAN	K	83	ENSP00000358323:T83K	ENSP00000358323:T83K	T	+	2	0	TXNIP	144150407	0.996000	0.38824	0.798000	0.32154	0.542000	0.35054	4.093000	0.57714	2.757000	0.94681	0.655000	0.94253	ACA		0.463	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
OR6K2	81448	broad.mit.edu	37	1	158669789	158669789	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:158669789G>A	ENST00000359610.2	-	1	697	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	218						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCATCGTAGGACATGAAGA	0.478																																						uc001fsu.1																			0				pancreas(1)	1						c.(652-654)TCC>TCT		olfactory receptor, family 6, subfamily K,							150.0	121.0	131.0					1																	158669789		2203	4300	6503	SO:0001819	synonymous_variant	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158669789G>A	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.654C>T	1.37:g.158669789G>A							p.S218S	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	654	-	all_hematologic(112;0.0378)		218			Helical; Name=5; (Potential).		B9EH33|Q6IFR6	Silent	SNP	ENST00000359610.2	37	c.654C>T	CCDS30902.1																																																																																				0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
CNTN2	6900	broad.mit.edu	37	1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2																			0				ovary(1)	1						c.(3046-3048)CGC>TGC		contactin 2 precursor							126.0	99.0	108.0					1																	205042816		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205042816C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.3046C>T	1.37:g.205042816C>T	ENSP00000330633:p.Arg1016Cys					CNTN2_uc001hbs.2_Missense_Mutation_p.R804C	p.R1016C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		23	3315	+	all_cancers(21;0.144)|Breast(84;0.0437)		1016					P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.3046C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301901	0.23736	.	.	ENSG00000184144	ENST00000331830	T	0.61859	0.07	4.9	-8.38	0.00973	.	0.812561	0.09709	U	0.765980	T	0.40839	0.1133	L	0.47716	1.5	0.21064	N	0.999794	B	0.02656	0.0	B	0.01281	0.0	T	0.28038	-1.0056	10	0.46703	T	0.11	.	6.6956	0.23197	0.2658:0.4631:0.0:0.2712	.	1016	Q02246	CNTN2_HUMAN	C	1016	ENSP00000330633:R1016C	ENSP00000330633:R1016C	R	+	1	0	CNTN2	203309439	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.917000	0.04025	-1.679000	0.01452	-0.258000	0.10820	CGC		0.607	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076	
ZMIZ1	57178	broad.mit.edu	37	10	81065892	81065892	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:81065892G>T	ENST00000334512.5	+	22	3031	c.2459G>T	c.(2458-2460)tGc>tTc	p.C820F	ZMIZ1_ENST00000446377.2_5'Flank	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	820					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATCCCACGTGCAGCTGGCGG	0.607																																						uc001kaf.2																			0				ovary(2)|breast(1)|skin(1)	4						c.(2458-2460)TGC>TTC		retinoic acid induced 17							66.0	56.0	59.0					10																	81065892		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81065892G>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2459G>T	10.37:g.81065892G>T	ENSP00000334474:p.Cys820Phe					ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR	p.C820F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		22	3031	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		820					Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.2459G>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.639586	0.87760	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.35789	1.29	4.7	4.7	0.59300	.	0.000000	0.46145	D	0.000320	T	0.58708	0.2141	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.64791	-0.6324	10	0.66056	D	0.02	-12.6727	18.0355	0.89301	0.0:0.0:1.0:0.0	.	820	Q9ULJ6	ZMIZ1_HUMAN	F	820;750;722	ENSP00000334474:C820F	ENSP00000334474:C820F	C	+	2	0	ZMIZ1	80735898	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.437000	0.97535	2.334000	0.79466	0.491000	0.48974	TGC		0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338	
PNLIP	5406	broad.mit.edu	37	10	118307871	118307871	+	Splice_Site	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118307871G>A	ENST00000369221.2	+	4	229		c.e4-1		PNLIP_ENST00000470562.1_Splice_Site	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388																																						uc001lcm.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.e4-1		pancreatic lipase precursor	Bentiromide(DB00522)|Orlistat(DB01083)						125.0	133.0	130.0					10																	118307871		2203	4300	6503	SO:0001630	splice_region_variant	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118307871G>A	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.202-1G>A	10.37:g.118307871G>A							p.E68_splice	NM_000936	NP_000927	P16233	LIPP_HUMAN		all cancers(201;0.0131)	4	245	+								Q5VSQ2	Splice_Site	SNP	ENST00000369221.2	37	c.202_splice	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.299681	0.23650	.	.	ENSG00000175535	ENST00000369221	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.089	0.89468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PNLIP	118297861	1.000000	0.71417	0.566000	0.28421	0.121000	0.20230	4.697000	0.61782	2.814000	0.96858	0.585000	0.79938	.		0.388	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936	Intron
KIAA1598	57698	broad.mit.edu	37	10	118728202	118728202	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118728202G>T	ENST00000355371.4	-	3	630	c.133C>A	c.(133-135)Cga>Aga	p.R45R	KIAA1598_ENST00000260777.10_Silent_p.R45R|KIAA1598_ENST00000392903.2_Silent_p.R45R|KIAA1598_ENST00000392901.4_5'UTR|KIAA1598_ENST00000497044.1_5'UTR	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	45					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTTCATCTCGTTCTTGCCTA	0.318																																						uc009xyw.2																			0					0						c.(133-135)CGA>AGA		shootin1 isoform a							120.0	108.0	112.0					10																	118728202		2201	4298	6499	SO:0001819	synonymous_variant	57698				axon guidance	axon		g.chr10:118728202G>T	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.133C>A	10.37:g.118728202G>T						KIAA1598_uc001lcz.3_Silent_p.R45R|KIAA1598_uc010qso.1_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.3_Silent_p.R15R	p.R45R	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	3	631	-			45			Potential.		A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Silent	SNP	ENST00000355371.4	37	c.133C>A	CCDS44482.1																																																																																				0.318	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
STIM1	6786	broad.mit.edu	37	11	4045179	4045179	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:4045179G>A	ENST00000300737.4	+	3	916	c.347G>A	c.(346-348)aGc>aAc	p.S116N	STIM1_ENST00000527651.1_Missense_Mutation_p.S116N|STIM1_ENST00000527484.1_3'UTR	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	116					activation of store-operated calcium channel activity (GO:0032237)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|regulation of calcium ion transport (GO:0051924)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of plasma membrane (GO:0005887)|microtubule (GO:0005874)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|microtubule plus-end binding (GO:0051010)|store-operated calcium channel activity (GO:0015279)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AAGCTCATCAGCGTGGAGGAC	0.488																																						uc001lyv.2																			0				pancreas(1)	1						c.(346-348)AGC>AAC		stromal interaction molecule 1 precursor							158.0	127.0	138.0					11																	4045179		2201	4298	6499	SO:0001583	missense	6786				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	g.chr11:4045179G>A	BC021300, U52426	CCDS7749.1, CCDS60706.1, CCDS73247.1	11p15.5	2014-09-17			ENSG00000167323	ENSG00000167323		"""Sterile alpha motif (SAM) domain containing"""	11386	protein-coding gene	gene with protein product		605921				8921403, 11463338, 11983428	Standard	NM_003156		Approved	GOK, D11S4896E	uc021qco.1	Q13586	OTTHUMG00000133360	ENST00000300737.4:c.347G>A	11.37:g.4045179G>A	ENSP00000300737:p.Ser116Asn					STIM1_uc009yef.2_Missense_Mutation_p.S116N	p.S116N	NM_003156	NP_003147	Q13586	STIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)	3	915	+		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)	116			Extracellular (Potential).		E9PQJ4|Q8N382	Missense_Mutation	SNP	ENST00000300737.4	37	c.347G>A	CCDS7749.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926798	0.73327	.	.	ENSG00000167323	ENST00000525403;ENST00000300737;ENST00000527651;ENST00000532610;ENST00000532919;ENST00000530554;ENST00000524822;ENST00000525055;ENST00000528656;ENST00000532990	T;D	0.82433	-0.62;-1.61	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.84392	0.5462	M	0.67397	2.05	0.80722	D	1	B;B	0.27625	0.183;0.135	B;B	0.35550	0.127;0.205	D	0.84086	0.0387	10	0.87932	D	0	-13.1876	16.5441	0.84409	0.0:0.0:1.0:0.0	.	116;116	E9PQJ4;Q13586	.;STIM1_HUMAN	N	42;116;116;42;42;42;42;42;42;42	ENSP00000300737:S116N;ENSP00000436208:S116N	ENSP00000300737:S116N	S	+	2	0	STIM1	4001755	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	8.829000	0.92055	2.514000	0.84764	0.563000	0.77884	AGC		0.488	STIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257196.1	NM_003156	
OR8I2	120586	broad.mit.edu	37	11	55861310	55861310	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:55861310T>C	ENST00000302124.2	+	1	558	c.527T>C	c.(526-528)tTt>tCt	p.F176S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCAATCATTTTTTTTGTGAC	0.443																																						uc010rix.1																			0				breast(1)	1						c.(526-528)TTT>TCT		olfactory receptor, family 8, subfamily I,							156.0	147.0	150.0					11																	55861310		2201	4296	6497	SO:0001583	missense	120586				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55861310T>C	AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.527T>C	11.37:g.55861310T>C	ENSP00000303864:p.Phe176Ser						p.F176S	NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN			1	527	+	Esophageal squamous(21;0.00693)		176			Extracellular (Potential).		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	c.527T>C	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	12.73	2.026978	0.35797	.	.	ENSG00000172154	ENST00000302124	T	0.00352	7.96	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	U	0.000934	T	0.00580	0.0019	H	0.97635	4.045	0.26306	N	0.97789	B	0.34349	0.45	B	0.34180	0.177	T	0.14755	-1.0461	10	0.87932	D	0	-8.3715	8.2708	0.31842	0.2992:0.0:0.0:0.7007	.	176	Q8N0Y5	OR8I2_HUMAN	S	176	ENSP00000303864:F176S	ENSP00000303864:F176S	F	+	2	0	OR8I2	55617886	0.045000	0.20229	0.997000	0.53966	0.341000	0.28922	0.456000	0.21859	1.717000	0.51406	0.362000	0.22060	TTT		0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001003750	
SLC22A9	114571	broad.mit.edu	37	11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	rs143461929		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:63137793C>T	ENST00000279178.3	+	1	514	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_ENST00000310969.4_Missense_Mutation_p.R89C	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	89					hormone transport (GO:0009914)|short-chain fatty acid import (GO:0015913)|sodium-independent organic anion transport (GO:0043252)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	anion:anion antiporter activity (GO:0015301)|short-chain fatty acid uptake transporter activity (GO:0015636)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21134	0.001		0.0	False		,,,				2504	0.0					uc001nww.2																			0				breast(2)|large_intestine(1)	3						c.(265-267)CGT>TGT		solute carrier family 22 (organic anion/cation							135.0	117.0	123.0					11																	63137793		2201	4298	6499	SO:0001583	missense	114571				transmembrane transport	integral to membrane		g.chr11:63137793C>T	AP001880	CCDS8043.1	11q12.3	2014-05-20	2008-01-11		ENSG00000149742	ENSG00000149742		"""Solute carriers"""	16261	protein-coding gene	gene with protein product		607579				11327718, 17393504	Standard	NM_080866		Approved	OAT4, FLJ23666, UST3, OAT7	uc001nww.3	Q8IVM8	OTTHUMG00000167805	ENST00000279178.3:c.265C>T	11.37:g.63137793C>T	ENSP00000279178:p.Arg89Cys					SLC22A9_uc001nwx.2_RNA	p.R89C	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN			1	533	+			89			Extracellular (Potential).		A0AVB7|A4PB24|Q8TCC8|Q8TEC0|Q8WYN7	Missense_Mutation	SNP	ENST00000279178.3	37	c.265C>T	CCDS8043.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.30	2.195302	0.38806	.	.	ENSG00000149742	ENST00000310969;ENST00000279178	T;T	0.37915	1.17;1.17	3.48	3.48	0.39840	.	0.517237	0.20530	N	0.090528	T	0.66567	0.2802	M	0.93594	3.435	0.34943	D	0.75048	D	0.89917	1.0	D	0.70716	0.97	T	0.80228	-0.1469	10	0.51188	T	0.08	.	13.0042	0.58694	0.0:1.0:0.0:0.0	.	89	Q8IVM8	S22A9_HUMAN	C	89	ENSP00000311527:R89C;ENSP00000279178:R89C	ENSP00000279178:R89C	R	+	1	0	SLC22A9	62894369	0.045000	0.20229	0.188000	0.23233	0.171000	0.22731	3.363000	0.52321	2.025000	0.59659	0.134000	0.15878	CGT		0.537	SLC22A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396371.1	NM_080866	
TSGA10IP	254187	broad.mit.edu	37	11	65714723	65714723	+	RNA	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:65714723C>T	ENST00000532620.1	+	0	658				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CTCGTTCTCCCAGCGTCAGTC	0.657																																						uc001ogk.1																			0					0						c.(427-429)CAG>TAG		testis specific, 10 interacting protein							17.0	20.0	19.0					11																	65714723		2121	4227	6348			254187							g.chr11:65714723C>T	AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65714723C>T						TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron	p.Q143*	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN			5	459	+			143					Q3SXZ9|Q3SY01|Q96M26	Nonsense_Mutation	SNP	ENST00000532620.1	37	c.427C>T																																																																																					0.657	TSGA10IP-001	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000391373.2	NM_152762	
MOGAT2	80168	broad.mit.edu	37	11	75439862	75439862	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:75439862C>T	ENST00000198801.5	+	5	748	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MOGAT2_ENST00000526712.1_Silent_p.F144F	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	226					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTCCTTCGGGGAGAATG	0.537																																						uc010rru.1																			0				ovary(2)	2						c.(676-678)TTC>TTT		monoacylglycerol O-acyltransferase 2							92.0	91.0	91.0					11																	75439862		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439862C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.678C>T	11.37:g.75439862C>T						MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.F144F	p.F226F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			5	678	+	Ovarian(111;0.103)		226					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.678C>T	CCDS8240.1																																																																																				0.537	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098	
GDPD4	220032	broad.mit.edu	37	11	76990356	76990356	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:76990356G>A	ENST00000376217.2	-	3	392	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	GDPD4_ENST00000315938.4_Silent_p.L48L|GDPD4_ENST00000527489.1_Intron			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	48					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCAACAGCAATGAAGAG	0.433																																						uc001oyf.2																			0				skin(1)	1						c.(142-144)CTG>TTG		glycerophosphodiester phosphodiesterase domain							102.0	89.0	93.0					11																	76990356		2200	4292	6492	SO:0001819	synonymous_variant	220032				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	g.chr11:76990356G>A	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.142C>T	11.37:g.76990356G>A							p.L48L	NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN			3	393	-			48			Helical; (Potential).		Q7Z5B0	Silent	SNP	ENST00000376217.2	37	c.142C>T																																																																																					0.433	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
AMOTL1	154810	broad.mit.edu	37	11	94532995	94532995	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:94532995G>A	ENST00000433060.2	+	3	780	c.639G>A	c.(637-639)gcG>gcA	p.A213A	AMOTL1_ENST00000317837.9_Silent_p.A213A|AMOTL1_ENST00000317829.8_Silent_p.A163A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	213					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				agcagGGGGCGGTGGGCCATG	0.612																																						uc001pfb.2																			0				ovary(1)|breast(1)	2						c.(637-639)GCG>GCA		angiomotin like 1							15.0	17.0	16.0					11																	94532995		2143	4253	6396	SO:0001819	synonymous_variant	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94532995G>A	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.639G>A	11.37:g.94532995G>A						AMOTL1_uc001pfc.2_Silent_p.A163A	p.A213A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN			3	809	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	213					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	c.639G>A	CCDS44712.1																																																																																				0.612	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847	
CLDN25	644672	broad.mit.edu	37	11	113650759	113650759	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:113650759G>A	ENST00000453129.2	+	1	291	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CAGGTAGCCCGCATCCTCATG	0.557																																						uc009yyw.1																			0					0						c.(241-243)CGC>CAC		claudin 25							110.0	122.0	118.0					11																	113650759		2176	4281	6457	SO:0001583	missense	644672					integral to membrane|tight junction	structural molecule activity	g.chr11:113650759G>A		CCDS44736.1	11q23.2	2009-09-22			ENSG00000228607	ENSG00000228607			37218	protein-coding gene	gene with protein product							Standard	NM_001101389		Approved		uc009yyw.1	C9JDP6	OTTHUMG00000168193	ENST00000453129.2:c.242G>A	11.37:g.113650759G>A	ENSP00000396304:p.Arg81His						p.R81H	NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN			1	242	+			81			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000453129.2	37	c.242G>A	CCDS44736.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620998	0.66787	.	.	ENSG00000228607	ENST00000453129	D	0.89875	-2.58	5.06	3.21	0.36854	.	.	.	.	.	D	0.95667	0.8591	H	0.95187	3.635	0.24129	N	0.995771	D	0.89917	1.0	D	0.97110	1.0	D	0.88418	0.3026	9	0.87932	D	0	.	10.517	0.44896	0.1582:0.0:0.8418:0.0	.	81	C9JDP6	CLD25_HUMAN	H	81	ENSP00000396304:R81H	ENSP00000396304:R81H	R	+	2	0	CLDN25	113155969	0.927000	0.31430	0.003000	0.11579	0.761000	0.43186	5.119000	0.64679	0.734000	0.32515	-0.143000	0.13931	CGC		0.557	CLDN25-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398706.1	NM_001101389	
AQP5	362	broad.mit.edu	37	12	50355944	50355944	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:50355944G>A	ENST00000293599.6	+	1	292	c.144G>A	c.(142-144)gcG>gcA	p.A48A	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550214.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	48					camera-type eye morphogenesis (GO:0048593)|carbon dioxide transport (GO:0015670)|excretion (GO:0007588)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	water channel activity (GO:0015250)			large_intestine(1)|lung(3)	4						TCGCGCTGGCGTTTGGCCTGG	0.667																																						uc001rvo.2																			0					0						c.(142-144)GCG>GCA		aquaporin 5							55.0	44.0	47.0					12																	50355944		2203	4299	6502	SO:0001819	synonymous_variant	362				carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity	g.chr12:50355944G>A	U46569	CCDS8793.1	12q13	2013-09-10				ENSG00000161798		"""Ion channels / Aquaporins"""	638	protein-coding gene	gene with protein product		600442				8621489, 23830519	Standard	NM_001651		Approved		uc001rvo.3	P55064	OTTHUMG00000169710	ENST00000293599.6:c.144G>A	12.37:g.50355944G>A							p.A48A	NM_001651	NP_001642	P55064	AQP5_HUMAN			1	666	+			48			Helical; (Potential).		Q6FGW8	Silent	SNP	ENST00000293599.6	37	c.144G>A	CCDS8793.1																																																																																				0.667	AQP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405542.2	NM_001651	
HSD17B6	8630	broad.mit.edu	37	12	57167873	57167873	+	Silent	SNP	G	G	A	rs147344470	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:57167873G>A	ENST00000554643.1	+	3	586	c.237G>A	c.(235-237)acG>acA	p.T79T	HSD17B6_ENST00000555805.1_Silent_p.T79T|HSD17B6_ENST00000554150.1_Silent_p.T79T|HSD17B6_ENST00000555159.1_Silent_p.T79T|HSD17B6_ENST00000322165.1_Silent_p.T79T			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	79					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGCTGGAGACGGTGACCCTGG	0.567													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		17066	0.0		0.0	False		,,,				2504	0.0					uc001smg.1																			0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(235-237)ACG>ACA		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)	G		37,4369	41.6+/-74.8	0,37,2166	67.0	68.0	67.0		237	-9.6	0.3	12	dbSNP_134	67	0,8600		0,0,4300	no	coding-synonymous	HSD17B6	NM_003725.2		0,37,6466	AA,AG,GG		0.0,0.8398,0.2845		79/318	57167873	37,12969	2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57167873G>A	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.237G>A	12.37:g.57167873G>A							p.T79T	NM_003725	NP_003716	O14756	H17B6_HUMAN			2	347	+			79					O43275	Silent	SNP	ENST00000554643.1	37	c.237G>A	CCDS8925.1																																																																																				0.567	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725	
NOS1	4842	broad.mit.edu	37	12	117669899	117669899	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:117669899C>T	ENST00000338101.4	-	22	3379	c.3375G>A	c.(3373-3375)ccG>ccA	p.P1125P	NOS1_ENST00000317775.6_Silent_p.P1091P|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.P1091P(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGGTGCAGGGCGGGAGGCGGA	0.602																																					Esophageal Squamous(162;1748 2599 51982 52956)	uc001twm.1																			1	Substitution - coding silent(1)		prostate(1)	ovary(3)|skin(3)|pancreas(1)	7						c.(3271-3273)CCG>CCA		nitric oxide synthase 1, neuronal	L-Citrulline(DB00155)						69.0	77.0	74.0					12																	117669899		2152	4264	6416	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117669899C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3375G>A	12.37:g.117669899C>T							p.P1091P	NM_000620	NP_000611	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	22	3959	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		1091			FAD-binding FR-type.			Silent	SNP	ENST00000338101.4	37	c.3273G>A	CCDS55890.1																																																																																				0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
TSC22D1	8848	broad.mit.edu	37	13	45148388	45148388	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:45148388G>T	ENST00000458659.2	-	1	2313	c.1823C>A	c.(1822-1824)tCt>tAt	p.S608Y	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	608	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCGCCTGAGAATATGGTAG	0.522																																						uc001uzn.3																			0					0						c.(1822-1824)TCT>TAT		TSC22 domain family, member 1 isoform 1							67.0	67.0	67.0					13																	45148388		2203	4300	6503	SO:0001583	missense	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148388G>T	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1823C>A	13.37:g.45148388G>T	ENSP00000397435:p.Ser608Tyr					TSC22D1_uc001uzo.1_Intron	p.S608Y	NM_183422	NP_904358	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2314	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	608			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	ENST00000458659.2	37	c.1823C>A	CCDS31966.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044801	0.55110	.	.	ENSG00000102804	ENST00000458659	T	0.34072	1.38	4.44	4.44	0.53790	.	0.329841	0.26453	N	0.024288	T	0.32823	0.0842	L	0.29908	0.895	0.80722	D	1	P	0.44090	0.826	B	0.43575	0.424	T	0.20338	-1.0278	10	0.59425	D	0.04	.	16.1581	0.81680	0.0:0.0:1.0:0.0	.	608	Q15714	T22D1_HUMAN	Y	608	ENSP00000397435:S608Y	ENSP00000397435:S608Y	S	-	2	0	TSC22D1	44046388	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	5.550000	0.67268	2.466000	0.83321	0.491000	0.48974	TCT		0.522	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022	
TUBGCP3	10426	broad.mit.edu	37	13	113176787	113176787	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:113176787T>C	ENST00000261965.3	-	14	1778	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.Q531R	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	531					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|single fertilization (GO:0007338)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|polar microtubule (GO:0005827)|spindle (GO:0005819)	gamma-tubulin binding (GO:0043015)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AATCTTCCCCTGAAATGCATT	0.423																																						uc001vse.1																			0				central_nervous_system(1)	1						c.(1591-1593)CAG>CGG		tubulin, gamma complex associated protein 3							108.0	95.0	99.0					13																	113176787		2203	4300	6503	SO:0001583	missense	10426				G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	g.chr13:113176787T>C	AF042378	CCDS9525.1, CCDS66584.1, CCDS73599.1	13q34	2008-07-18			ENSG00000126216	ENSG00000126216			18598	protein-coding gene	gene with protein product	"""spindle pole body protein"""					9566967, 9566969	Standard	XM_005268293		Approved	GCP3, Spc98p, SPBC98	uc001vse.1	Q96CW5	OTTHUMG00000017367	ENST00000261965.3:c.1592A>G	13.37:g.113176787T>C	ENSP00000261965:p.Gln531Arg					TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.2_Missense_Mutation_p.Q531R	p.Q531R	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN			14	1779	-	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		531					O43631|O60852|O60853|Q5T8L2|Q7Z4K1|Q96I79	Missense_Mutation	SNP	ENST00000261965.3	37	c.1592A>G	CCDS9525.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.684751	0.47991	.	.	ENSG00000126216	ENST00000261965;ENST00000375669	T;T	0.08370	3.1;3.1	5.63	4.44	0.53790	.	0.113540	0.64402	N	0.000008	T	0.07908	0.0198	L	0.42581	1.335	0.53005	D	0.999967	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.10450	0.005;0.002;0.005	T	0.19063	-1.0317	10	0.15066	T	0.55	-19.4788	10.8889	0.46984	0.0:0.0765:0.0:0.9235	.	521;531;531	B4DYP7;Q96CW5-2;Q96CW5	.;.;GCP3_HUMAN	R	531	ENSP00000261965:Q531R;ENSP00000364821:Q531R	ENSP00000261965:Q531R	Q	-	2	0	TUBGCP3	112224788	1.000000	0.71417	0.999000	0.59377	0.794000	0.44872	5.603000	0.67619	0.962000	0.38057	0.456000	0.33151	CAG		0.423	TUBGCP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045825.2	NM_006322	
CHAMP1	283489	broad.mit.edu	37	13	115090500	115090500	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:115090500C>G	ENST00000361283.1	+	3	1492	c.1183C>G	c.(1183-1185)Cca>Gca	p.P395A		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	395	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										GTCTGGCCCACCAGAACTCCG	0.557																																						uc010ahb.2																			0				ovary(2)	2						c.(1183-1185)CCA>GCA		zinc finger protein 828							101.0	105.0	104.0					13																	115090500		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115090500C>G	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1183C>G	13.37:g.115090500C>G	ENSP00000354730:p.Pro395Ala					ZNF828_uc001vuv.2_Missense_Mutation_p.P395A|ZNF828_uc010tko.1_Missense_Mutation_p.P395A	p.P395A	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)	3	1512	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	395			Mediates interaction with MAD2L2.|Pro-rich.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1183C>G	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361694	0.41801	.	.	ENSG00000198824	ENST00000361283	T	0.03801	3.8	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000055	T	0.12305	0.0299	M	0.65498	2.005	0.38585	D	0.950288	D	0.55800	0.973	P	0.53593	0.73	T	0.00768	-1.1574	9	.	.	.	-15.5449	9.8161	0.40853	0.1415:0.7858:0.0:0.0727	.	395	Q96JM3	ZN828_HUMAN	A	395	ENSP00000354730:P395A	.	P	+	1	0	ZNF828	114108602	0.126000	0.22350	1.000000	0.80357	0.996000	0.88848	0.999000	0.29757	2.805000	0.96524	0.655000	0.94253	CCA		0.557	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	NM_032436	
AK7	122481	broad.mit.edu	37	14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:96875256C>T	ENST00000267584.4	+	4	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	159					axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473																																						uc001yfn.2																			0				ovary(1)	1						c.(475-477)GCG>GTG		adenylate kinase 7							88.0	85.0	86.0					14																	96875256		2203	4300	6503	SO:0001583	missense	122481				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr14:96875256C>T	AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.476C>T	14.37:g.96875256C>T	ENSP00000267584:p.Ala159Val						p.A159V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)	4	520	+		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)	159			Potential.		Q8IYP6	Missense_Mutation	SNP	ENST00000267584.4	37	c.476C>T	CCDS9945.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.313464	0.40996	.	.	ENSG00000140057	ENST00000267584	T	0.43294	0.95	5.1	5.1	0.69264	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	M	0.69185	2.1	0.80722	D	1	D	0.67145	0.996	P	0.52793	0.709	T	0.55173	-0.8182	10	0.45353	T	0.12	-27.8015	15.7785	0.78242	0.0:1.0:0.0:0.0	.	159	Q96M32	KAD7_HUMAN	V	159	ENSP00000267584:A159V	ENSP00000267584:A159V	A	+	2	0	AK7	95945009	0.998000	0.40836	0.955000	0.39395	0.036000	0.12997	4.965000	0.63708	2.535000	0.85469	0.655000	0.94253	GCG		0.473	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413340.1		
AHNAK2	113146	broad.mit.edu	37	14	105407228	105407228	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:105407228G>C	ENST00000333244.5	-	7	14679	c.14560C>G	c.(14560-14562)Cct>Gct	p.P4854A	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4854						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGAAACAGGAATCATGGAA	0.483																																						uc010axc.1																			0				ovary(1)	1						c.(14560-14562)CCT>GCT		AHNAK nucleoprotein 2							28.0	29.0	29.0					14																	105407228		1928	4146	6074	SO:0001583	missense	113146					nucleus		g.chr14:105407228G>C	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.14560C>G	14.37:g.105407228G>C	ENSP00000353114:p.Pro4854Ala					AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A	p.P4854A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	14680	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4854					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.14560C>G	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	7.961	0.747010	0.15710	.	.	ENSG00000185567	ENST00000333244	T	0.05717	3.4	4.67	0.397	0.16314	.	.	.	.	.	T	0.02230	0.0069	N	0.12182	0.205	0.09310	N	1	P	0.37101	0.582	B	0.31686	0.134	T	0.32929	-0.9888	9	0.08381	T	0.77	.	1.4065	0.02282	0.1955:0.1692:0.4613:0.174	.	4854	Q8IVF2	AHNK2_HUMAN	A	4854	ENSP00000353114:P4854A	ENSP00000353114:P4854A	P	-	1	0	AHNAK2	104478273	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.613000	0.05610	0.145000	0.18977	0.563000	0.77884	CCT		0.483	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
NDN	4692	broad.mit.edu	37	15	23932352	23932352	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:23932352T>A	ENST00000331837.4	-	1	98	c.13A>T	c.(13-15)Agt>Tgt	p.S5C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	5					axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATCCTTACTTTGTTCTGAC	0.642									Prader-Willi syndrome																													uc001ywk.2																			0					0						c.(13-15)AGT>TGT		necdin							30.0	28.0	29.0					15																	23932352		1745	3468	5213	SO:0001583	missense	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23932352T>A	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.13A>T	15.37:g.23932352T>A	ENSP00000332643:p.Ser5Cys						p.S5C	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	99	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	5					B2R6Z5	Missense_Mutation	SNP	ENST00000331837.4	37	c.13A>T	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218950	0.39201	.	.	ENSG00000182636	ENST00000331837	T	0.02916	4.11	3.75	2.48	0.30137	.	0.911450	0.09278	N	0.824191	T	0.02304	0.0071	N	0.08118	0	0.27254	N	0.958801	D	0.55172	0.97	P	0.46543	0.52	T	0.49570	-0.8926	10	0.44086	T	0.13	.	6.4654	0.21980	0.0:0.0:0.2512:0.7488	.	5	Q99608	NECD_HUMAN	C	5	ENSP00000332643:S5C	ENSP00000332643:S5C	S	-	1	0	NDN	21483445	0.995000	0.38212	1.000000	0.80357	0.535000	0.34838	1.750000	0.38329	1.649000	0.50652	0.459000	0.35465	AGT		0.642	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2	NM_002487	
CHRFAM7A	89832	broad.mit.edu	37	15	30659651	30659651	+	Silent	SNP	G	G	A	rs371263130		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:30659651G>A	ENST00000299847.2	-	9	1143	c.690C>T	c.(688-690)caC>caT	p.H230H	CHRFAM7A_ENST00000397827.3_Silent_p.H139H|CHRFAM7A_ENST00000401522.3_Silent_p.H139H	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	230						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCGGGGTCGTGGTGGTGGT	0.602																																						uc001zdt.1																			0				skin(1)	1						c.(688-690)CAC>CAT		CHRNA7-FAM7A fusion isoform 1		G	,	1,4381		0,1,2190	90.0	81.0	84.0		690,417	-2.1	1.0	15		84	0,8570		0,0,4285	no	coding-synonymous,coding-synonymous	CHRFAM7A	NM_139320.1,NM_148911.1	,	0,1,6475	AA,AG,GG		0.0,0.0228,0.0077	,	230/413,139/322	30659651	1,12951	2191	4285	6476	SO:0001819	synonymous_variant	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30659651G>A	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.690C>T	15.37:g.30659651G>A						DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H	p.H230H	NM_139320	NP_647536	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	9	1256	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	230					A8KAB9	Silent	SNP	ENST00000299847.2	37	c.690C>T	CCDS32184.1																																																																																				0.602	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
MNS1	55329	broad.mit.edu	37	15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:56735891_56735893delTCT	ENST00000260453.3	-	6	1010_1012	c.846_848delAGA	c.(844-849)gaagat>gat	p.E282del	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	282	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369																																						uc002adr.2																			0				ovary(1)	1						c.(844-849)GAAGAT>GAT		meiosis-specific nuclear structural 1																																				SO:0001651	inframe_deletion	55329				meiosis			g.chr15:56735891_56735893delTCT	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.846_848delAGA	15.37:g.56735897_56735899delTCT	ENSP00000260453:p.Glu282del					MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.2_Intron|TEX9_uc010ugl.1_Intron	p.E282del	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	6	1011_1013	-			282			Potential.|Glu-rich.		Q8IYT6|Q9NUP4	In_Frame_Del	DEL	ENST00000260453.3	37	c.846_848delAGA	CCDS10158.1																																																																																				0.369	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365	
ARID3B	10620	broad.mit.edu	37	15	74884098	74884098	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:74884098C>T	ENST00000346246.5	+	7	1594	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	455	REKLES. {ECO:0000255|PROSITE- ProRule:PRU00819}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTTCCAGCGCAACTTTTT	0.647																																						uc002aye.2																			0					0						c.(1363-1365)CGC>TGC		AT rich interactive domain 3B							40.0	40.0	40.0					15																	74884098		2197	4293	6490	SO:0001583	missense	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74884098C>T		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1363C>T	15.37:g.74884098C>T	ENSP00000343126:p.Arg455Cys					ARID3B_uc002ayd.2_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C	p.R455C	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN			7	1564	+			455			REKLES.		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	ENST00000346246.5	37	c.1363C>T	CCDS10264.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083361	0.94050	.	.	ENSG00000179361	ENST00000346246;ENST00000395077	T	0.50548	0.74	5.31	5.31	0.75309	REKLES domain (1);	0.185184	0.51477	D	0.000092	T	0.64951	0.2645	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.965;0.976	T	0.66312	-0.5955	10	0.62326	D	0.03	-13.6935	18.9719	0.92718	0.0:1.0:0.0:0.0	.	455;455	Q8IVW6;Q8IVW6-4	ARI3B_HUMAN;.	C	455	ENSP00000343126:R455C	ENSP00000343126:R455C	R	+	1	0	ARID3B	72671151	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.395000	0.79876	2.490000	0.84030	0.655000	0.94253	CGC		0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465	
SRRM2	23524	broad.mit.edu	37	16	2812074	2812074	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:2812074G>A	ENST00000301740.8	+	11	2094	c.1545G>A	c.(1543-1545)agG>agA	p.R515R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	515	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGGCGTAGGTCCAGGTCTG	0.617																																						uc002crk.2																			0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1543-1545)AGG>AGA		splicing coactivator subunit SRm300							79.0	67.0	71.0					16																	2812074		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812074G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1545G>A	16.37:g.2812074G>A						SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R	p.R515R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2094	+			515			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.1545G>A	CCDS32373.1																																																																																				0.617	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
ACSM2A	123876	broad.mit.edu	37	16	20476938	20476938	+	Missense_Mutation	SNP	G	G	A	rs141326932	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20476938G>A	ENST00000573854.1	+	3	391	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2A_ENST00000396104.2_Missense_Mutation_p.A93T|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A14T|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A93T|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A93T|ACSM2A_ENST00000575690.1_Missense_Mutation_p.A93T	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	93					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCCAGCAGGCAGCCAACGT	0.612																																						uc010bwe.2																			0				skin(2)|breast(1)	3						c.(277-279)GCA>ACA		acyl-CoA synthetase medium-chain family member		G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	125.0	111.0	116.0		277	1.5	0.0	16	dbSNP_134	116	4,8596	4.3+/-15.6	0,4,4296	no	missense	ACSM2A	NM_001010845.2	58	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	93/578	20476938	5,13001	2203	4300	6503	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20476938G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.277G>A	16.37:g.20476938G>A	ENSP00000459451:p.Ala93Thr					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.3_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.3_Missense_Mutation_p.A93T|ACSM2A_uc010vay.1_Missense_Mutation_p.A14T	p.A93T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			4	516	+			93					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.277G>A	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.277847	0.40294	2.27E-4	4.65E-4	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	3.76	1.53	0.23141	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.28466	0.0704	L	0.35593	1.075	0.23076	N	0.998336	B;B	0.30236	0.052;0.274	B;B	0.31390	0.091;0.129	T	0.23332	-1.0191	10	0.18276	T	0.48	-0.3522	7.5529	0.27808	0.2524:0.0:0.7476:0.0	.	14;93	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	T	14;93;93;93	ENSP00000392169:A14T;ENSP00000219054:A93T;ENSP00000394904:A93T;ENSP00000379411:A93T	ENSP00000219054:A93T	A	+	1	0	ACSM2A	20384439	0.088000	0.21588	0.024000	0.17045	0.429000	0.31625	1.327000	0.33746	0.108000	0.17862	0.298000	0.19748	GCA		0.612	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
ACSM2B	348158	broad.mit.edu	37	16	20570670	20570670	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20570670C>T	ENST00000329697.6	-	3	445	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2B_ENST00000567001.1_Missense_Mutation_p.A93T|ACSM2B_ENST00000565232.1_Missense_Mutation_p.A93T|ACSM2B_ENST00000414188.2_Missense_Mutation_p.A93T|ACSM2B_ENST00000565322.1_Missense_Mutation_p.A14T	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	93					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGTTGGCTGCCTGCTGGCTG	0.602																																						uc002dhj.3																			0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(277-279)GCA>ACA		acyl-CoA synthetase medium-chain family member							26.0	21.0	23.0					16																	20570670		2200	4284	6484	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20570670C>T	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.277G>A	16.37:g.20570670C>T	ENSP00000327453:p.Ala93Thr					ACSM2B_uc002dhk.3_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T	p.A93T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			4	487	-			93					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.277G>A	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	7.155	0.584590	0.13749	.	.	ENSG00000066813	ENST00000329697;ENST00000414188	T;T	0.41758	0.99;0.99	3.51	0.393	0.16294	AMP-dependent synthetase/ligase (1);	0.686726	0.12607	N	0.454202	T	0.27384	0.0672	L	0.35414	1.06	0.22226	N	0.999275	B;B	0.30236	0.274;0.274	B;B	0.31390	0.129;0.129	T	0.24870	-1.0148	10	0.17369	T	0.5	-0.3522	7.1301	0.25496	0.0:0.672:0.0:0.328	.	93;93	A8K051;Q68CK6	.;ACS2B_HUMAN	T	93	ENSP00000327453:A93T;ENSP00000390378:A93T	ENSP00000327453:A93T	A	-	1	0	ACSM2B	20478171	0.001000	0.12720	0.023000	0.16930	0.018000	0.09664	0.675000	0.25232	-0.084000	0.12595	0.609000	0.83330	GCA		0.602	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
ALOX12B	242	broad.mit.edu	37	17	7989533	7989533	+	Silent	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:7989533G>T	ENST00000319144.4	-	2	413	c.153C>A	c.(151-153)ggC>ggA	p.G51G	MIR4314_ENST00000583321.1_RNA	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	51	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGTACTGGCCCACCTAGG	0.647										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0					0						c.(151-153)GGC>GGA		arachidonate 12-lipoxygenase, 12R type							70.0	58.0	62.0					17																	7989533		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7989533G>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.153C>A	17.37:g.7989533G>T		Multiple Myeloma(8;0.094)				hsa-mir-4314|MI0015846_5'Flank	p.G51G	NM_001139	NP_001130	O75342	LX12B_HUMAN			2	414	-			51			PLAT.			Silent	SNP	ENST00000319144.4	37	c.153C>A	CCDS11129.1																																																																																				0.647	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		
MIEF2	125170	broad.mit.edu	37	17	18167942	18167942	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:18167942G>A	ENST00000323019.4	+	4	1440	c.1229G>A	c.(1228-1230)gGc>gAc	p.G410D	MIEF2_ENST00000395706.2_Missense_Mutation_p.G421D|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	410					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											CTGCTCATCGGCAGCCTGGAG	0.627																																						uc002gst.2																			0					0						c.(1228-1230)GGC>GAC		Smith-Magenis syndrome chromosome region,							42.0	41.0	41.0					17																	18167942		2202	4300	6502	SO:0001583	missense	125170					integral to membrane	protein binding	g.chr17:18167942G>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1229G>A	17.37:g.18167942G>A	ENSP00000323591:p.Gly410Asp					SMCR7_uc002gsu.2_3'UTR|SMCR7_uc010vxq.1_Missense_Mutation_p.G421D	p.G410D	NM_139162	NP_631901	Q96C03	SMCR7_HUMAN			4	1440	+	all_neural(463;0.228)		410					J3KPT3|Q6ZRD4|Q96N07	Missense_Mutation	SNP	ENST00000323019.4	37	c.1229G>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077544	0.36662	.	.	ENSG00000177427	ENST00000323019;ENST00000395706	T;T	0.07327	3.2;3.2	5.45	2.28	0.28536	.	0.246807	0.47852	N	0.000215	T	0.05547	0.0146	L	0.28400	0.85	0.27465	N	0.953026	B	0.20052	0.041	B	0.26770	0.073	T	0.33803	-0.9854	10	0.30854	T	0.27	-3.6878	2.9508	0.05861	0.2157:0.121:0.5386:0.1247	.	410	Q96C03	MID49_HUMAN	D	410;421	ENSP00000323591:G410D;ENSP00000379057:G421D	ENSP00000323591:G410D	G	+	2	0	SMCR7	18108667	0.016000	0.18221	0.014000	0.15608	0.951000	0.60555	1.947000	0.40293	0.232000	0.21100	0.462000	0.41574	GGC		0.627	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162	
GPR179	440435	broad.mit.edu	37	17	36499092	36499092	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:36499092G>A	ENST00000342292.4	-	1	601	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	194					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)				CAGGGCAGGGGTGTCCAGGTC	0.642																																						uc002hpz.2																			0				ovary(3)	3						c.(580-582)ACC>ATC		GPR158-like 1 precursor							89.0	94.0	92.0					17																	36499092		1991	4141	6132	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36499092G>A		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.581C>T	17.37:g.36499092G>A	ENSP00000345060:p.Thr194Ile						p.T194I	NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN			1	602	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	194			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000342292.4	37	c.581C>T	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803498	0.31869	.	.	ENSG00000188888	ENST00000342292	T	0.52295	0.67	4.95	-7.69	0.01263	.	0.932998	0.09100	N	0.848618	T	0.29524	0.0736	L	0.44542	1.39	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.29640	-1.0005	10	0.54805	T	0.06	0.1153	3.0534	0.06176	0.1441:0.4241:0.1675:0.2643	.	194	Q6PRD1	GP179_HUMAN	I	194	ENSP00000345060:T194I	ENSP00000345060:T194I	T	-	2	0	GPR179	33752618	0.000000	0.05858	0.000000	0.03702	0.811000	0.45836	-0.111000	0.10807	-1.383000	0.02106	-0.345000	0.07892	ACC		0.642	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240819	39240819	+	Missense_Mutation	SNP	C	C	G	rs374377149		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:39240819C>G	ENST00000391417.4	+	1	361	c.361C>G	c.(361-363)Ctg>Gtg	p.L121V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	176	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ctgctgctgcCTGCGTCCAGT	0.657																																						uc010wfn.1																			0					0						c.(361-363)CTG>GTG		keratin associated protein 4-7							26.0	26.0	26.0					17																	39240819		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240819C>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.361C>G	17.37:g.39240819C>G	ENSP00000375236:p.Leu121Val						p.L121V	NM_033061	NP_149050					1	361	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.361C>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0.902	-0.722098	0.03182	.	.	ENSG00000240871	ENST00000391417	T	0.00587	6.38	3.27	1.03	0.20045	.	.	.	.	.	T	0.00356	0.0011	.	.	.	0.09310	N	1	B	0.21606	0.058	B	0.14023	0.01	T	0.41484	-0.9506	8	0.18710	T	0.47	.	2.4062	0.04414	0.1899:0.5061:0.186:0.118	.	176	Q9BYR0	KRA47_HUMAN	V	121	ENSP00000375236:L121V	ENSP00000375236:L121V	L	+	1	2	KRTAP4-7	36494345	0.356000	0.24930	0.829000	0.32907	0.752000	0.42762	-0.391000	0.07323	0.126000	0.18424	0.305000	0.20034	CTG		0.657	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240900	39240900	+	Missense_Mutation	SNP	T	T	G	rs61746948	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:39240900T>G	ENST00000391417.4	+	1	442	c.442T>G	c.(442-444)Ttg>Gtg	p.L148V		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	203	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TCCCCGCCCCTTGTGCTGTGC	0.627																																						uc010wfn.1																			0					0						c.(442-444)TTG>GTG		keratin associated protein 4-7							84.0	82.0	82.0					17																	39240900		692	1591	2283	SO:0001583	missense	100132476							g.chr17:39240900T>G	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.442T>G	17.37:g.39240900T>G	ENSP00000375236:p.Leu148Val						p.L148V	NM_033061	NP_149050					1	442	+								A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	ENST00000391417.4	37	c.442T>G	CCDS45673.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.836702	0.00069	.	.	ENSG00000240871	ENST00000391417	T	0.00584	6.4	3.99	-3.22	0.05125	.	.	.	.	.	T	0.00271	0.0008	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40136	-0.9579	8	0.02654	T	1	.	6.1576	0.20346	0.6045:0.0:0.2635:0.132	.	203	Q9BYR0	KRA47_HUMAN	V	148	ENSP00000375236:L148V	ENSP00000375236:L148V	L	+	1	2	KRTAP4-7	36494426	0.000000	0.05858	0.598000	0.28837	0.004000	0.04260	-0.333000	0.07894	-2.223000	0.00726	-4.761000	0.00003	TTG		0.627	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1		
PPM1D	8493	broad.mit.edu	37	17	58740521	58740521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:58740521G>T	ENST00000305921.3	+	6	1658	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	476					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCACTTGAAGAAAATTGCGC	0.403											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc002iyt.1																			0				upper_aerodigestive_tract(1)	1						c.(1426-1428)GAA>TAA		protein phosphatase 1D							103.0	96.0	98.0					17																	58740521		2203	4300	6503	SO:0001587	stop_gained	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740521G>T	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1426G>T	17.37:g.58740521G>T	ENSP00000306682:p.Glu476*		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033	PPM1D_uc010ddm.1_RNA	p.E476*	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1648	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		476					Q53XP4|Q6P991|Q8IVR6	Nonsense_Mutation	SNP	ENST00000305921.3	37	c.1426G>T	CCDS11625.1	.	.	.	.	.	.	.	.	.	.	G	39	7.495521	0.98319	.	.	ENSG00000170836	ENST00000305921	.	.	.	6.08	6.08	0.98989	.	0.283455	0.40144	N	0.001176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-18.5088	20.6721	0.99693	0.0:0.0:1.0:0.0	.	.	.	.	X	476	.	ENSP00000306682:E476X	E	+	1	0	PPM1D	56095303	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	6.764000	0.74960	2.894000	0.99253	0.591000	0.81541	GAA		0.403	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620	
C17orf77	146723	broad.mit.edu	37	17	72588368	72588368	+	Silent	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:72588368T>G	ENST00000392620.1	+	3	545	c.183T>G	c.(181-183)ggT>ggG	p.G61G	CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Silent_p.G61G	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	61						extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTCTCCTTGGTGATCACAGGT	0.537																																						uc002jla.1																			0					0						c.(181-183)GGT>GGG		hypothetical protein LOC146723							74.0	74.0	74.0					17																	72588368		2203	4300	6503	SO:0001819	synonymous_variant	146723					extracellular region		g.chr17:72588368T>G		CCDS32721.1	17q25.1	2006-01-16			ENSG00000182352	ENSG00000182352			26480	protein-coding gene	gene with protein product							Standard	NM_152460		Approved	FLJ31882	uc002jla.1	Q96MU5	OTTHUMG00000067611	ENST00000392620.1:c.183T>G	17.37:g.72588368T>G						CD300LD_uc002jkz.2_5'UTR	p.G61G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN			3	545	+			61						Silent	SNP	ENST00000392620.1	37	c.183T>G	CCDS32721.1																																																																																				0.537	C17orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145090.2	NM_152460	
EMILIN2	84034	broad.mit.edu	37	18	2892201	2892201	+	Silent	SNP	G	G	A	rs3810066	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:2892201G>A	ENST00000254528.3	+	4	2235	c.2076G>A	c.(2074-2076)acG>acA	p.T692T		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAATGCACGCAGGGGGTCC	0.572													G|||	5	0.000998403	0.0	0.0	5008	,	,		18266	0.004		0.001	False		,,,				2504	0.0					uc002kln.2																			0				skin(2)|ovary(1)	3						c.(2074-2076)ACG>ACA		elastin microfibril interfacer 2 precursor		G		0,4406		0,0,2203	102.0	109.0	107.0		2076	-11.0	0.0	18	dbSNP_107	107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	EMILIN2	NM_032048.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		692/1054	2892201	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84034				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	g.chr18:2892201G>A	AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.2076G>A	18.37:g.2892201G>A							p.T692T	NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN		READ - Rectum adenocarcinoma(2;0.1)	4	2235	+			692					B2RMY3|Q8NBH3|Q96JQ4	Silent	SNP	ENST00000254528.3	37	c.2076G>A	CCDS11828.1																																																																																				0.572	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048	
DCC	1630	broad.mit.edu	37	18	50592528	50592528	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:50592528C>A	ENST00000442544.2	+	7	1869	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000412726.1_Missense_Mutation_p.P266H|DCC_ENST00000581580.1_Missense_Mutation_p.P73H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	418					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATTGTCCCTAAGCCTGGT	0.438																																						uc002lfe.1																			0				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1252-1254)CCT>CAT		netrin receptor DCC precursor							137.0	122.0	127.0					18																	50592528		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50592528C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1253C>A	18.37:g.50592528C>A	ENSP00000389140:p.Pro418His					DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.1_Missense_Mutation_p.P73H	p.P418H	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	7	1840	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	418			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000442544.2	37	c.1253C>A	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370610	0.24771	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.81415	-1.49;-1.49	5.01	5.01	0.66863	.	0.083661	0.50627	D	0.000110	T	0.73313	0.3571	N	0.24115	0.695	0.36088	D	0.843287	B;B;P	0.36733	0.002;0.002;0.567	B;B;B	0.38755	0.002;0.002;0.281	T	0.81219	-0.1032	10	0.66056	D	0.02	.	17.4581	0.87613	0.0:1.0:0.0:0.0	.	266;266;418	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	H	418;351;266	ENSP00000389140:P418H;ENSP00000397322:P266H	ENSP00000304146:P351H	P	+	2	0	DCC	48846526	0.936000	0.31750	1.000000	0.80357	0.829000	0.46940	2.237000	0.43061	2.497000	0.84241	0.650000	0.86243	CCT		0.438	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215	
ZNF532	55205	broad.mit.edu	37	18	56587377	56587377	+	Nonsense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:56587377G>T	ENST00000336078.4	+	4	2634	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZNF532_ENST00000591083.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000591808.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000591230.1_Nonsense_Mutation_p.E620*|ZNF532_ENST00000589288.1_Nonsense_Mutation_p.E620*	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	620					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGCTTGGAGTGTGGGGA	0.537																																						uc002lho.2																			0				breast(1)|skin(1)	2						c.(1858-1860)GAG>TAG		zinc finger protein 532							73.0	66.0	68.0					18																	56587377		2203	4300	6503	SO:0001587	stop_gained	55205				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:56587377G>T	AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.1858G>T	18.37:g.56587377G>T	ENSP00000338217:p.Glu620*					ZNF532_uc002lhp.2_Nonsense_Mutation_p.E618*|ZNF532_uc010xeg.1_Nonsense_Mutation_p.E618*|ZNF532_uc002lhr.2_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.2_Nonsense_Mutation_p.E618*	p.E620*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN			4	2405	+			620			C2H2-type 1; degenerate.		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Nonsense_Mutation	SNP	ENST00000336078.4	37	c.1858G>T	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	-	47	12.969617	0.99710	.	.	ENSG00000074657	ENST00000336078	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.1287	19.6535	0.95827	0.0:0.0:1.0:0.0	.	.	.	.	X	620	.	ENSP00000338217:E620X	E	+	1	0	ZNF532	54738357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.799000	0.99117	2.748000	0.94277	0.550000	0.68814	GAG		0.537	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256130.1	NM_018181	
MC4R	4160	broad.mit.edu	37	18	58039346	58039346	+	Missense_Mutation	SNP	C	C	T	rs536312911		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:58039346C>T	ENST00000299766.3	-	1	655	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	79					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGAAAAAGTACATGGGTGAAT	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		23387	0.0		0.0	False		,,,				2504	0.001					uc002lie.1																			0				lung(1)	1						c.(235-237)ATG>ATA		melanocortin 4 receptor							103.0	99.0	101.0					18																	58039346		2203	4300	6503	SO:0001583	missense	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58039346C>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.237G>A	18.37:g.58039346C>T	ENSP00000299766:p.Met79Ile						p.M79I	NM_005912	NP_005903	P32245	MC4R_HUMAN			1	656	-		Colorectal(73;0.0946)	79			Cytoplasmic (Potential).		B2RAC3|Q16317|Q3MIJ6	Missense_Mutation	SNP	ENST00000299766.3	37	c.237G>A	CCDS11976.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537079	0.85812	.	.	ENSG00000166603	ENST00000299766	T	0.09350	2.99	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.25950	-1.0117	10	0.87932	D	0	.	17.3726	0.87382	0.0:1.0:0.0:0.0	.	79	P32245	MC4R_HUMAN	I	79	ENSP00000299766:M79I	ENSP00000299766:M79I	M	-	3	0	MC4R	56190326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.777000	0.95525	0.655000	0.94253	ATG		0.438	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912	
ARID3A	1820	broad.mit.edu	37	19	964263	964263	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:964263G>A	ENST00000263620.3	+	5	1109	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	261	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGTGAACCGCATCCCCATC	0.637																																					Pancreas(29;54 1022 32760 50921)	uc002lql.2																			0					0						c.(781-783)CGC>CAC		AT rich interactive domain 3A (BRIGHT- like)							114.0	93.0	100.0					19																	964263		2203	4300	6503	SO:0001583	missense	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964263G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.782G>A	19.37:g.964263G>A	ENSP00000263620:p.Arg261His						p.R261H	NM_005224	NP_005215	Q99856	ARI3A_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)	5	1072	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	261			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Missense_Mutation	SNP	ENST00000263620.3	37	c.782G>A	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578637	0.65878	.	.	ENSG00000116017	ENST00000263620	T	0.63744	-0.06	4.5	4.5	0.54988	ARID/BRIGHT DNA-binding domain (5);	0.111581	0.64402	D	0.000017	T	0.76371	0.3978	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.79820	-0.1642	10	0.87932	D	0	-1.9051	14.6615	0.68876	0.0:0.0:1.0:0.0	.	261	Q99856	ARI3A_HUMAN	H	261	ENSP00000263620:R261H	ENSP00000263620:R261H	R	+	2	0	ARID3A	915263	1.000000	0.71417	0.946000	0.38457	0.302000	0.27658	9.342000	0.97044	2.061000	0.61500	0.561000	0.74099	CGC		0.637	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224	
FUT6	2528	broad.mit.edu	37	19	5832254	5832254	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:5832254G>C	ENST00000318336.4	-	3	1519	c.325C>G	c.(325-327)Cac>Gac	p.H109D	FUT6_ENST00000592563.1_Missense_Mutation_p.H109D|FUT6_ENST00000524754.1_Missense_Mutation_p.H109D|FUT6_ENST00000286955.5_Missense_Mutation_p.H109D|FUT6_ENST00000527106.1_Missense_Mutation_p.H109D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	109					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTCTCGGTGGTGCACGATG	0.642																																						uc002mdf.1																			0					0						c.(325-327)CAC>GAC		fucosyltransferase 6							83.0	72.0	76.0					19																	5832254		2203	4300	6503	SO:0001583	missense	2528				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5832254G>C		CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.325C>G	19.37:g.5832254G>C	ENSP00000313398:p.His109Asp					FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc010dul.1_Missense_Mutation_p.H109D	p.H109D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN			4	851	-			109			Lumenal (Potential).		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	ENST00000318336.4	37	c.325C>G	CCDS12152.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666761	0.67814	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530;ENST00000529165	T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74	3.09	3.09	0.35607	.	0.000000	0.64402	D	0.000008	T	0.48370	0.1496	M	0.75264	2.295	0.36581	D	0.873543	D;D	0.71674	0.998;0.998	D;D	0.81914	0.993;0.995	T	0.62215	-0.6901	10	0.72032	D	0.01	.	12.3817	0.55311	0.0:0.0:1.0:0.0	.	109;109	C9J8A2;P51993	.;FUT6_HUMAN	D	109	ENSP00000431708:H109D;ENSP00000432954:H109D;ENSP00000313398:H109D;ENSP00000286955:H109D;ENSP00000436547:H109D	ENSP00000286955:H109D	H	-	1	0	FUT6	5783254	1.000000	0.71417	0.190000	0.23270	0.014000	0.08584	8.659000	0.91116	1.666000	0.50821	0.436000	0.28706	CAC		0.642	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2	NM_000150	
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						uc010xkj.1																			2	Substitution - Missense(2)		prostate(1)|lung(1)	skin(3)	3						c.(205-207)GTT>ATT		olfactory receptor, family 1, subfamily M,							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	205	+			69			Helical; Name=2; (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1		
CYP2B6	1555	broad.mit.edu	37	19	41515999	41515999	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:41515999G>A	ENST00000324071.4	+	6	930	c.923G>A	c.(922-924)cGc>cAc	p.R308H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	308					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	ACCACTCTCCGCTACGGCTTC	0.552																																						uc002opr.1																			0				ovary(1)|skin(1)	2						c.(922-924)CGC>CAC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						128.0	94.0	105.0					19																	41515999		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41515999G>A	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.923G>A	19.37:g.41515999G>A	ENSP00000324648:p.Arg308His					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron	p.R308H	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		6	930	+			308					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.923G>A	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.353151	0.82132	.	.	ENSG00000197408	ENST00000324071	T	0.69435	-0.4	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.71358	0.3330	M	0.77820	2.39	0.80722	D	1	P	0.48089	0.905	P	0.49477	0.612	T	0.75317	-0.3360	10	0.72032	D	0.01	.	8.5509	0.33451	0.1032:0.0:0.8968:0.0	.	308	P20813	CP2B6_HUMAN	H	308	ENSP00000324648:R308H	ENSP00000324648:R308H	R	+	2	0	CYP2B6	46207839	0.186000	0.23225	0.999000	0.59377	0.990000	0.78478	2.600000	0.46240	2.394000	0.81467	0.550000	0.68814	CGC		0.552	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1	NM_000767	
FOXA3	3171	broad.mit.edu	37	19	46375889	46375889	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:46375889G>A	ENST00000302177.2	+	2	823	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	209					cell differentiation (GO:0030154)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|chromatin modification (GO:0016568)|endocrine pancreas development (GO:0031018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACCTGCGCCGCCAGAAACGC	0.627																																						uc002pdr.2																			0				breast(1)	1						c.(625-627)CGC>CAC		forkhead box A3							17.0	19.0	18.0					19																	46375889		2203	4296	6499	SO:0001583	missense	3171				brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr19:46375889G>A	L12141	CCDS12677.1	19q13.32	2014-09-11		2002-09-20	ENSG00000170608	ENSG00000170608		"""Forkhead boxes"""	5023	protein-coding gene	gene with protein product		602295	"""hepatocyte nuclear factor 3, gamma"""	HNF3G		9119385	Standard	NM_004497		Approved		uc002pdr.3	P55318	OTTHUMG00000182484	ENST00000302177.2:c.626G>A	19.37:g.46375889G>A	ENSP00000304004:p.Arg209His						p.R209H	NM_004497	NP_004488	P55318	FOXA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)	2	823	+		Ovarian(192;0.0308)|all_neural(266;0.0476)	209					A9LYI5|Q53F16|Q9UMW9	Missense_Mutation	SNP	ENST00000302177.2	37	c.626G>A	CCDS12677.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555766	0.86231	.	.	ENSG00000170608	ENST00000302177	D	0.95821	-3.82	4.13	4.13	0.48395	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (2);	0.000000	0.85682	D	0.000000	D	0.98286	0.9432	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99100	1.0843	10	0.87932	D	0	.	14.2619	0.66090	0.0:0.0:1.0:0.0	.	209	P55318	FOXA3_HUMAN	H	209	ENSP00000304004:R209H	ENSP00000304004:R209H	R	+	2	0	FOXA3	51067729	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.573000	0.98181	2.278000	0.76064	0.453000	0.30009	CGC		0.627	FOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461682.1		
EHD3	30845	broad.mit.edu	37	2	31483729	31483729	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:31483729C>T	ENST00000322054.5	+	4	1141	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	286	Dynamin-type G.				blood coagulation (GO:0007596)|endocytic recycling (GO:0032456)|protein homooligomerization (GO:0051260)|protein targeting to plasma membrane (GO:0072661)|regulation of cardiac muscle cell membrane potential (GO:0086036)	cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAGAGTCTGCCCCGAAATGC	0.622																																						uc002rnu.2																			0		p.P286P(1)		skin(2)	2						c.(856-858)CCC>TCC		EH-domain containing 3							73.0	77.0	75.0					2																	31483729		2203	4300	6503	SO:0001583	missense	30845				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	g.chr2:31483729C>T	AF181264	CCDS1774.1	2p21	2013-01-10			ENSG00000013016	ENSG00000013016		"""EF-hand domain containing"""	3244	protein-coding gene	gene with protein product		605891		PAST3		10673336	Standard	NM_014600		Approved		uc002rnu.3	Q9NZN3	OTTHUMG00000099365	ENST00000322054.5:c.856C>T	2.37:g.31483729C>T	ENSP00000327116:p.Pro286Ser					EHD3_uc010ymt.1_Intron	p.P286S	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN			4	1464	+	Acute lymphoblastic leukemia(172;0.155)		286					B4DFR5|D6W574|Q8N514|Q9NZB3	Missense_Mutation	SNP	ENST00000322054.5	37	c.856C>T	CCDS1774.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383822	0.82792	.	.	ENSG00000013016	ENST00000322054	D	0.95412	-3.7	4.97	4.1	0.47936	.	0.047537	0.85682	D	0.000000	D	0.96284	0.8788	M	0.87758	2.905	0.80722	D	1	P	0.49783	0.928	P	0.47705	0.555	D	0.96373	0.9275	10	0.87932	D	0	-26.881	13.4992	0.61445	0.0:0.9254:0.0:0.0746	.	286	Q9NZN3	EHD3_HUMAN	S	286	ENSP00000327116:P286S	ENSP00000327116:P286S	P	+	1	0	EHD3	31337233	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.651000	0.83577	1.332000	0.45431	0.561000	0.74099	CCC		0.622	EHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216810.1	NM_014600	
BIRC6	57448	broad.mit.edu	37	2	32727897	32727897	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:32727897A>T	ENST00000421745.2	+	48	9377	c.9243A>T	c.(9241-9243)ttA>ttT	p.L3081F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3081					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCCATTATTGTGGTTCA	0.313																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(9241-9243)TTA>TTT		baculoviral IAP repeat-containing 6							152.0	140.0	144.0					2																	32727897		2203	4298	6501	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32727897A>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9243A>T	2.37:g.32727897A>T	ENSP00000393596:p.Leu3081Phe						p.L3081F	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			48	9377	+	Acute lymphoblastic leukemia(172;0.155)		3081					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.9243A>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	A	12.52	1.963496	0.34659	.	.	ENSG00000115760	ENST00000421745	D	0.82526	-1.62	5.87	-4.2	0.03823	.	0.000000	0.64402	D	0.000001	T	0.78317	0.4264	L	0.59436	1.845	0.28199	N	0.927422	P	0.51791	0.948	P	0.51487	0.671	T	0.71471	-0.4583	10	0.33141	T	0.24	.	5.3243	0.15898	0.2451:0.1846:0.4739:0.0964	.	3081	Q9NR09	BIRC6_HUMAN	F	3081	ENSP00000393596:L3081F	ENSP00000393596:L3081F	L	+	3	2	BIRC6	32581401	0.012000	0.17670	0.631000	0.29282	0.674000	0.39518	-0.560000	0.05964	-0.324000	0.08589	0.533000	0.62120	TTA		0.313	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
SLC4A5	57835	broad.mit.edu	37	2	74477637	74477637	+	Missense_Mutation	SNP	C	C	T	rs201823142		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:74477637C>T	ENST00000377634.4	-	17	1885	c.1486G>A	c.(1486-1488)Ggt>Agt	p.G496S	SLC4A5_ENST00000483195.1_5'UTR|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.G496S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.G496S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.G496S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.G496S|SLC4A5_ENST00000357822.5_Missense_Mutation_p.G496S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.G432S|SLC4A5_ENST00000358683.4_Missense_Mutation_p.G432S					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGGCCACCGAAGAACCTG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002sko.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(1486-1488)GGT>AGT		sodium bicarbonate transporter 4 isoform a							135.0	131.0	132.0					2																	74477637		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74477637C>T	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1486G>A	2.37:g.74477637C>T	ENSP00000366861:p.Gly496Ser		OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1153	SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S	p.G496S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			12	1488	-			496			Cytoplasmic (Potential).|Gly-rich.			Missense_Mutation	SNP	ENST00000377634.4	37	c.1486G>A	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864277	0.91511	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	D;D;D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.44	4.55	0.56014	Bicarbonate transporter, C-terminal (1);	0.047725	0.85682	D	0.000000	D	0.94798	0.8320	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;1.0	D;D;D;D;D	0.77557	0.958;0.99;0.987;0.982;0.978	D	0.94891	0.8048	10	0.87932	D	0	.	12.3368	0.55071	0.0:0.9168:0.0:0.0832	.	496;496;432;496;496	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	496;496;496;432;496;432;496;496;496;496	ENSP00000377587:G496S;ENSP00000251768:G496S;ENSP00000352461:G432S;ENSP00000395804:G496S;ENSP00000351513:G432S;ENSP00000350475:G496S;ENSP00000366859:G496S;ENSP00000366861:G496S;ENSP00000405678:G496S	ENSP00000251768:G496S	G	-	1	0	SLC4A5	74331145	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.924000	0.70054	2.837000	0.97791	0.655000	0.94253	GGT		0.527	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
IL18RAP	8807	broad.mit.edu	37	2	103040791	103040791	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:103040791C>T	ENST00000264260.2	+	5	1085	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	IL18RAP_ENST00000409369.1_Missense_Mutation_p.L24F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	166	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						gcaagacctacttcttgggag	0.468																																						uc002tbx.2																			0				skin(3)|ovary(2)	5						c.(496-498)CTT>TTT		interleukin 18 receptor accessory protein							113.0	106.0	109.0					2																	103040791		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040791C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.496C>T	2.37:g.103040791C>T	ENSP00000264260:p.Leu166Phe					IL18RAP_uc010fiz.2_Missense_Mutation_p.L24F	p.L166F	NM_003853	NP_003844	O95256	I18RA_HUMAN			5	980	+			166			Ig-like C2-type 1.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.496C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350320	0.41599	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.78246	1.74;-1.16	5.22	3.31	0.37934	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.198748	0.35970	N	0.002878	T	0.72220	0.3433	M	0.69823	2.125	0.09310	N	0.999995	P	0.39326	0.668	B	0.40444	0.329	T	0.59080	-0.7521	10	0.10111	T	0.7	.	8.4821	0.33049	0.1752:0.6558:0.169:0.0	.	166	O95256	I18RA_HUMAN	F	166;24	ENSP00000264260:L166F;ENSP00000387201:L24F	ENSP00000264260:L166F	L	+	1	0	IL18RAP	102407223	0.072000	0.21174	0.027000	0.17364	0.091000	0.18340	0.721000	0.25911	0.607000	0.29982	0.655000	0.94253	CTT		0.468	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
TMEM87B	84910	broad.mit.edu	37	2	112865416	112865416	+	Splice_Site	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:112865416G>A	ENST00000283206.4	+	17	1945	c.1576G>A	c.(1576-1578)Gta>Ata	p.V526I		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	526						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCACAGATGTGTAAGTTAT	0.343																																						uc002thm.2																			0					0						c.(1576-1578)GTA>ATA		transmembrane protein 87B precursor							100.0	99.0	100.0					2																	112865416		2202	4300	6502	SO:0001630	splice_region_variant	84910					integral to membrane		g.chr2:112865416G>A	AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.1577+1G>A	2.37:g.112865416G>A							p.V526I	NM_032824	NP_116213	Q96K49	TM87B_HUMAN			17	1945	+			526					A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	ENST00000283206.4	37	c.1576G>A	CCDS33275.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702714	0.30232	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.54	4.66	0.58398	.	0.119660	0.56097	N	0.000029	T	0.55705	0.1937	L	0.57536	1.79	0.31437	N	0.672447	B	0.31174	0.311	B	0.38378	0.272	T	0.61559	-0.7038	9	0.51188	T	0.08	-9.1411	15.3139	0.74059	0.0764:0.0:0.9236:0.0	.	526	Q96K49	TM87B_HUMAN	I	526	.	ENSP00000283206:V526I	V	+	1	0	TMEM87B	112581887	1.000000	0.71417	1.000000	0.80357	0.404000	0.30871	6.418000	0.73341	0.712000	0.32039	-1.641000	0.00772	GTA		0.343	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330500.1	NM_032824	Missense_Mutation
GCG	2641	broad.mit.edu	37	2	163005628	163005628	+	Missense_Mutation	SNP	G	G	A	rs202213699		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:163005628G>A	ENST00000418842.2	-	2	315	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	GCG_ENST00000375497.3_Missense_Mutation_p.R21C	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	21					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|protein kinase A signaling (GO:0010737)|regulation of insulin secretion (GO:0050796)|response to starvation (GO:0042594)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)	glucagon receptor binding (GO:0031769)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14						TGAAGGGAACGTTGCCAGCTG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		14838	0.0		0.001	False		,,,				2504	0.0					uc002ucc.2																			0					0						c.(61-63)CGT>TGT		glucagon preproprotein	Exenatide(DB01276)|Phentolamine(DB00692)	G	CYS/ARG	0,3750		0,0,1875	149.0	144.0	146.0		61	4.2	1.0	2		146	2,8222		0,2,4110	no	missense	GCG	NM_002054.3	180	0,2,5985	AA,AG,GG		0.0243,0.0,0.0167	possibly-damaging	21/181	163005628	2,11972	1875	4112	5987	SO:0001583	missense	2641				cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity	g.chr2:163005628G>A		CCDS46439.1	2q36-q37	2013-02-26			ENSG00000115263	ENSG00000115263		"""Endogenous ligands"""	4191	protein-coding gene	gene with protein product	"""glicentin-related polypeptide"", ""glucagon-like peptide 1"", ""glucagon-like peptide 2"", ""preproglucagon"""	138030				2753890, 3725587	Standard	NM_002054		Approved	GLP1, GLP2, GRPP	uc002ucc.4	P01275	OTTHUMG00000153892	ENST00000418842.2:c.61C>T	2.37:g.163005628G>A	ENSP00000387662:p.Arg21Cys						p.R21C	NM_002054	NP_002045	P01275	GLUC_HUMAN			2	160	-			21					A6NN65|Q53TP6	Missense_Mutation	SNP	ENST00000418842.2	37	c.61C>T	CCDS46439.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.41	2.826487	0.50739	0.0	2.43E-4	ENSG00000115263	ENST00000418842;ENST00000375497	T;T	0.44881	0.91;0.91	5.1	4.18	0.49190	.	0.845482	0.10637	N	0.651475	T	0.30727	0.0774	N	0.22421	0.69	0.32837	D	0.504858	P	0.51057	0.941	B	0.39738	0.308	T	0.42632	-0.9440	10	0.87932	D	0	13.5564	12.2767	0.54739	0.0:0.0:0.6513:0.3487	.	21	P01275	GLUC_HUMAN	C	21	ENSP00000387662:R21C;ENSP00000364647:R21C	ENSP00000364647:R21C	R	-	1	0	GCG	162713874	0.991000	0.36638	0.988000	0.46212	0.998000	0.95712	2.237000	0.43061	2.663000	0.90544	0.591000	0.81541	CGT		0.413	GCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332860.1	NM_002054	
MYO3B	140469	broad.mit.edu	37	2	171243715	171243715	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:171243715T>C	ENST00000408978.4	+	14	1617	c.1474T>C	c.(1474-1476)Ttt>Ctt	p.F492L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F492L|MYO3B_ENST00000334231.6_Missense_Mutation_p.F501L	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	492	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCGAGCCGTTTTGGAAAATA	0.433																																						uc002ufy.2																			0				lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.(1474-1476)TTT>CTT		myosin IIIB isoform 2							87.0	86.0	86.0					2																	171243715		1871	4111	5982	SO:0001583	missense	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171243715T>C		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1474T>C	2.37:g.171243715T>C	ENSP00000386213:p.Phe492Leu					MYO3B_uc002ufv.2_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F479L|MYO3B_uc002ufz.2_Missense_Mutation_p.F492L|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA	p.F492L	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			14	1617	+			492			Myosin head-like.		B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	c.1474T>C	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	32	5.133539	0.94517	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.63	5.63	0.86233	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.92136	0.7507	H	0.96633	3.855	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94583	0.7781	10	0.72032	D	0.01	.	15.8361	0.78799	0.0:0.0:0.0:1.0	.	492;492;492	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	L	492;492;491;501;501	ENSP00000386497:F492L;ENSP00000386213:F492L;ENSP00000446237:F501L;ENSP00000335100:F501L	ENSP00000314213:F491L	F	+	1	0	MYO3B	170951961	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	8.010000	0.88615	2.145000	0.66743	0.379000	0.24179	TTT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A	rs368002151		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																						uc002unu.2																			0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(1231-1233)TCG>TCA		integrin alpha 4 precursor	Natalizumab(DB00108)	G		0,3752		0,0,1876	105.0	99.0	101.0		1233	-11.7	0.0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182358131G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A							p.S411S	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		11	1996	+			411			FG-GAP 6.|Extracellular (Potential).		D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	c.1233G>A	CCDS42788.1																																																																																				0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
MYO1B	4430	broad.mit.edu	37	2	192141643	192141643	+	Missense_Mutation	SNP	A	A	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:192141643A>T	ENST00000392318.3	+	2	269	c.22A>T	c.(22-24)Acc>Tcc	p.T8S	MYO1B_ENST00000392316.1_Missense_Mutation_p.T8S|MYO1B_ENST00000304164.4_Missense_Mutation_p.T8S|MYO1B_ENST00000339514.4_Missense_Mutation_p.T8S	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	8					actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAGGTGAAAACCTCACTTCT	0.433																																						uc010fsg.2																			0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.(22-24)ACC>TCC		myosin IB isoform 1							110.0	107.0	108.0					2																	192141643		2203	4300	6503	SO:0001583	missense	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192141643A>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.22A>T	2.37:g.192141643A>T	ENSP00000376132:p.Thr8Ser					MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S	p.T8S	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		2	277	+			8					O43794|Q7Z6L5	Missense_Mutation	SNP	ENST00000392318.3	37	c.22A>T	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	A	8.053	0.766317	0.15983	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000420448;ENST00000392316	D;D;D;D;D;D;T;D	0.86956	-1.77;-2.18;-2.19;-2.19;-1.61;-2.05;-0.84;-2.19	5.56	2.97	0.34412	.	0.136554	0.49305	N	0.000151	T	0.62792	0.2457	N	0.00996	-1.065	0.80722	D	1	B;B	0.17038	0.0;0.02	B;B	0.23574	0.0;0.047	T	0.55250	-0.8170	10	0.09084	T	0.74	.	9.2096	0.37311	0.7008:0.0:0.0:0.2992	.	8;8	O43795;O43795-2	MYO1B_HUMAN;.	S	8	ENSP00000401324:T8S;ENSP00000341903:T8S;ENSP00000376132:T8S;ENSP00000306382:T8S;ENSP00000399459:T8S;ENSP00000388140:T8S;ENSP00000387610:T8S;ENSP00000376130:T8S	ENSP00000306382:T8S	T	+	1	0	MYO1B	191849888	1.000000	0.71417	0.519000	0.27824	0.938000	0.57974	4.759000	0.62227	0.899000	0.36444	0.533000	0.62120	ACC		0.433	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	
SLC19A3	80704	broad.mit.edu	37	2	228560683	228560683	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:228560683T>C	ENST00000258403.3	-	4	1165	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.Y361C	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	365					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443																																						uc002vpi.2																			0				ovary(2)	2						c.(1093-1095)TAC>TGC		solute carrier family 19, member 3	L-Cysteine(DB00151)						82.0	91.0	88.0					2																	228560683		2203	4300	6503	SO:0001583	missense	80704				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr2:228560683T>C	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1094A>G	2.37:g.228560683T>C	ENSP00000258403:p.Tyr365Cys					SLC19A3_uc002vpj.2_RNA|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C	p.Y365C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	4	1183	-		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)	365			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000258403.3	37	c.1094A>G	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520743	0.27211	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	T;T	0.81247	-1.47;-1.47	5.03	3.81	0.43845	Major facilitator superfamily domain, general substrate transporter (1);	0.104953	0.64402	D	0.000003	T	0.76779	0.4035	M	0.64676	1.99	0.21841	N	0.999516	P;B	0.41420	0.749;0.372	B;B	0.40825	0.341;0.216	T	0.70324	-0.4903	10	0.42905	T	0.14	-6.9152	10.2409	0.43312	0.2384:0.0:0.0:0.7616	.	361;365	F5H2M8;Q9BZV2	.;S19A3_HUMAN	C	365;361	ENSP00000258403:Y365C;ENSP00000445519:Y361C	ENSP00000258403:Y365C	Y	-	2	0	SLC19A3	228268927	1.000000	0.71417	0.995000	0.50966	0.682000	0.39822	3.277000	0.51654	2.111000	0.64477	0.533000	0.62120	TAC		0.443	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
CHRND	1144	broad.mit.edu	37	2	233394760	233394760	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:233394760G>A	ENST00000258385.3	+	7	763	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CHRND_ENST00000543200.1_Missense_Mutation_p.R229H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P207P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ATCATCCGCCGCAAGCCCCTC	0.607																																						uc002vsw.2																			0				ovary(1)|breast(1)|skin(1)	3						c.(730-732)CGC>CAC		nicotinic acetylcholine receptor delta							177.0	146.0	156.0					2																	233394760		2203	4300	6503	SO:0001583	missense	1144				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr2:233394760G>A	X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.731G>A	2.37:g.233394760G>A	ENSP00000258385:p.Arg244His					CHRND_uc010zmg.1_Missense_Mutation_p.R229H|CHRND_uc010fyc.2_Missense_Mutation_p.R117H|CHRND_uc010zmh.1_Intron	p.R244H	NM_000751	NP_000742	Q07001	ACHD_HUMAN		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	7	735	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	244			Extracellular (Potential).		A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	ENST00000258385.3	37	c.731G>A	CCDS2494.1	.	.	.	.	.	.	.	.	.	.	G	35	5.449696	0.96205	.	.	ENSG00000135902	ENST00000543200;ENST00000258385	D;D	0.96802	-4.13;-4.13	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.048932	0.85682	D	0.000000	D	0.99023	0.9666	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	19.0839	0.93194	0.0:0.0:1.0:0.0	.	229;244;244	B4DT92;A8K661;Q07001	.;.;ACHD_HUMAN	H	229;244	ENSP00000438380:R229H;ENSP00000258385:R244H	ENSP00000258385:R244H	R	+	2	0	CHRND	233103004	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.605000	0.88082	0.655000	0.94253	CGC		0.607	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257038.2		
SNED1	25992	broad.mit.edu	37	2	242004746	242004746	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:242004746G>A	ENST00000310397.8	+	21	2745	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	SNED1_ENST00000405547.3_Silent_p.E915E|SNED1_ENST00000342631.6_Silent_p.E915E|SNED1_ENST00000401884.1_Silent_p.E915E|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	915	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAAGATGGAGAGAGTGGAGG	0.607																																						uc002wah.1																			0				breast(1)|central_nervous_system(1)	2						c.(2743-2745)GAG>GAA		6720455I24Rik homolog precursor							31.0	35.0	34.0					2																	242004746		1977	4149	6126	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242004746G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2745G>A	2.37:g.242004746G>A						SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.2_Silent_p.E2E	p.E915E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	21	2745	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	915			Fibronectin type-III 1.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.2745G>A	CCDS46562.1																																																																																				0.607	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482	
ANGPT4	51378	broad.mit.edu	37	20	869018	869018	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:869018A>G	ENST00000381922.3	-	3	632	c.530T>C	c.(529-531)cTg>cCg	p.L177P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L177P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	177					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCCAGCTTGTTGGT	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2																			0				ovary(2)	2						c.(529-531)CTG>CCG		angiopoietin 4 precursor							94.0	83.0	87.0					20																	869018		2203	4300	6503	SO:0001583	missense	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:869018A>G	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.530T>C	20.37:g.869018A>G	ENSP00000371347:p.Leu177Pro					ANGPT4_uc010zpn.1_Missense_Mutation_p.L171P	p.L177P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			3	633	-			177			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	c.530T>C	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	a	15.90	2.970165	0.53614	.	.	ENSG00000101280	ENST00000381922;ENST00000546022	T;T	0.13778	2.56;2.56	4.44	4.44	0.53790	.	0.113092	0.36338	N	0.002650	T	0.36166	0.0957	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.962	T	0.19943	-1.0290	10	0.87932	D	0	.	11.7257	0.51708	1.0:0.0:0.0:0.0	.	177;177	B4E3J9;Q9Y264	.;ANGP4_HUMAN	P	177	ENSP00000371347:L177P;ENSP00000439605:L177P	ENSP00000371347:L177P	L	-	2	0	ANGPT4	817018	1.000000	0.71417	1.000000	0.80357	0.400000	0.30750	8.755000	0.91646	1.875000	0.54330	0.248000	0.18094	CTG		0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
NCOR1P1	149934	broad.mit.edu	37	20	26084125	26084125	+	RNA	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:26084125T>C	ENST00000478176.1	-	0	332					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		AGACTTTTACTTGTTTCTTTT	0.299																																						uc002wvj.3																			0					0						c.(289-291)CAA>CAG		SubName: Full=Putative uncharacterized protein ENSP00000323172;							75.0	61.0	65.0					20																	26084125		692	1590	2282			149934							g.chr20:26084125T>C	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084125T>C							p.Q97Q	NR_003678						2	346	-								A2RUA0	Silent	SNP	ENST00000478176.1	37	c.291A>G																																																																																					0.299	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2		
DHX35	60625	broad.mit.edu	37	20	37632428	37632428	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:37632428C>A	ENST00000252011.3	+	11	922	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	DHX35_ENST00000373325.2_Missense_Mutation_p.Q297K|DHX35_ENST00000373323.4_Missense_Mutation_p.Q266K	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	297	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCTCATCGAGCAGGCTCGAGC	0.453																																						uc002xjh.2																			0				lung(1)|kidney(1)|skin(1)	3						c.(889-891)CAG>AAG		DEAH (Asp-Glu-Ala-His) box polypeptide 35							153.0	142.0	145.0					20																	37632428		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37632428C>A	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.889C>A	20.37:g.37632428C>A	ENSP00000252011:p.Gln297Lys					DHX35_uc010zwa.1_Missense_Mutation_p.Q142K|DHX35_uc010zwb.1_Missense_Mutation_p.Q142K|DHX35_uc010zwc.1_Missense_Mutation_p.Q266K	p.Q297K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN			11	900	+		Myeloproliferative disorder(115;0.00878)	297			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.889C>A	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.376671	0.42105	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000441485	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	6.08	5.12	0.69794	Helicase, C-terminal (1);	0.097290	0.64402	D	0.000001	T	0.10337	0.0253	N	0.16368	0.405	0.80722	D	1	B;B	0.30104	0.074;0.268	B;B	0.22386	0.039;0.033	T	0.07927	-1.0747	10	0.54805	T	0.06	.	17.3569	0.87338	0.0:0.8751:0.1249:0.0	.	266;297	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	K	297;297;266;262	ENSP00000362422:Q297K;ENSP00000252011:Q297K;ENSP00000362420:Q266K;ENSP00000414630:Q262K	ENSP00000252011:Q297K	Q	+	1	0	DHX35	37065842	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.810000	0.62598	1.545000	0.49373	0.591000	0.81541	CAG		0.453	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931	
BACH1	571	broad.mit.edu	37	21	30693606	30693606	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:30693606C>G	ENST00000399921.1	+	2	248	c.5C>G	c.(4-6)tCt>tGt	p.S2C	BACH1_ENST00000286800.3_Missense_Mutation_p.S2C	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCAGAATGTCTCTGAGTGAG	0.403																																						uc002ynj.2																			0				ovary(1)|liver(1)	2						c.(4-6)TCT>TGT		BTB and CNC homology 1 transcription factor							93.0	82.0	86.0					21																	30693606		2203	4300	6503	SO:0001583	missense	571					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:30693606C>G	AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.5C>G	21.37:g.30693606C>G	ENSP00000382805:p.Ser2Cys					BACH1_uc002ynk.2_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_RNA	p.S2C	NM_001186	NP_001177	O14867	BACH1_HUMAN			2	120	+			2					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	c.5C>G	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737335	0.49045	.	.	ENSG00000156273	ENST00000548219;ENST00000550131;ENST00000547141;ENST00000546469;ENST00000286800;ENST00000399921;ENST00000548467;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.79141	-0.98;-0.98;-1.2;-1.19;-1.24	5.31	4.42	0.53409	.	0.080390	0.53938	D	0.000046	T	0.78489	0.4291	M	0.78801	2.425	0.46725	D	0.999177	D	0.53151	0.958	B	0.40901	0.343	T	0.82932	-0.0212	10	0.72032	D	0.01	-13.4956	16.2749	0.82640	0.0:0.8671:0.1329:0.0	.	2	O14867	BACH1_HUMAN	C	2	ENSP00000286800:S2C;ENSP00000382805:S2C;ENSP00000400576:S2C;ENSP00000408605:S2C;ENSP00000392202:S2C	ENSP00000286800:S2C	S	+	2	0	BACH1	29615477	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.159000	0.58157	1.358000	0.45922	0.460000	0.39030	TCT		0.403	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866	
KRTAP12-3	386683	broad.mit.edu	37	21	46078019	46078019	+	Silent	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:46078019G>A	ENST00000397907.1	+	1	171	c.123G>A	c.(121-123)acG>acA	p.T41T	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	41	14 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAGCTGCACGCGCATTGTGT	0.637																																						uc002zft.2																			0				central_nervous_system(1)	1						c.(121-123)ACG>ACA		keratin associated protein 12-3							97.0	110.0	106.0					21																	46078019		2186	4267	6453	SO:0001819	synonymous_variant	386683					intermediate filament		g.chr21:46078019G>A	AB076361	CCDS42964.1	21q22.3	2006-03-13			ENSG00000205439	ENSG00000205439		"""Keratin associated proteins"""	20531	protein-coding gene	gene with protein product							Standard	NM_198697		Approved	KRTAP12.3	uc002zft.3	P60328	OTTHUMG00000057630	ENST00000397907.1:c.123G>A	21.37:g.46078019G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T41T	NM_198697	NP_941970	P60328	KR123_HUMAN			1	171	+			41			14 X 5 AA approximate repeats.			Silent	SNP	ENST00000397907.1	37	c.123G>A	CCDS42964.1																																																																																				0.637	KRTAP12-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128033.1		
PARVG	64098	broad.mit.edu	37	22	44581720	44581720	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr22:44581720C>T	ENST00000444313.3	+	4	596	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	PARVG_ENST00000415224.1_Missense_Mutation_p.R38W|PARVG_ENST00000422871.1_Missense_Mutation_p.R38W|PARVG_ENST00000453888.3_3'UTR	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	38					actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCCACTTCCCGGAAGGACCC	0.607																																						uc011aqe.1																			0					0						c.(112-114)CGG>TGG		parvin, gamma							73.0	59.0	64.0					22																	44581720		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44581720C>T	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.112C>T	22.37:g.44581720C>T	ENSP00000391583:p.Arg38Trp					PARVG_uc010gzo.2_Missense_Mutation_p.R105W|PARVG_uc010gzp.2_RNA|PARVG_uc003bep.2_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_RNA|PARVG_uc010gzr.1_RNA|PARVG_uc011aqf.1_Missense_Mutation_p.R38W|PARVG_uc003beq.2_RNA|PARVG_uc003ber.2_RNA	p.R38W	NM_001137605	NP_001131077	Q9HBI0	PARVG_HUMAN			4	536	+		Ovarian(80;0.024)|all_neural(38;0.0299)	38					B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.112C>T	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214322	0.58452	.	.	ENSG00000138964	ENST00000422871;ENST00000453888;ENST00000444313;ENST00000415224	T;T;T;T	0.60548	0.18;0.71;0.18;0.18	4.79	5.91E-4	0.14042	Calponin homology domain (1);	0.360042	0.22632	N	0.057569	T	0.66528	0.2798	M	0.77820	2.39	0.09310	N	1	D;D	0.76494	0.968;0.999	B;P	0.59115	0.291;0.852	T	0.58869	-0.7560	10	0.62326	D	0.03	0.217	7.3757	0.26827	0.5831:0.3327:0.0:0.0842	.	105;38	B4DDW5;Q9HBI0	.;PARVG_HUMAN	W	38;105;38;38	ENSP00000391453:R38W;ENSP00000416104:R105W;ENSP00000391583:R38W;ENSP00000416761:R38W	ENSP00000349378:R38W	R	+	1	2	PARVG	42913053	0.162000	0.22906	0.023000	0.16930	0.855000	0.48748	0.066000	0.14489	-0.181000	0.10619	0.655000	0.94253	CGG		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141	
SLC4A7	9497	broad.mit.edu	37	3	27478926	27478926	+	Missense_Mutation	SNP	T	T	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:27478926T>G	ENST00000295736.5	-	4	424	c.354A>C	c.(352-354)gaA>gaC	p.E118D	SLC4A7_ENST00000446700.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000454389.1_Missense_Mutation_p.E127D|SLC4A7_ENST00000455077.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000445684.1_Missense_Mutation_p.E127D|SLC4A7_ENST00000437179.1_Missense_Mutation_p.E123D|SLC4A7_ENST00000435667.2_Missense_Mutation_p.E127D|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.E127D|SLC4A7_ENST00000428386.1_Missense_Mutation_p.E118D|SLC4A7_ENST00000425128.2_Missense_Mutation_p.E123D	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	118					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TGTAACACAGTTCATCCATTT	0.373																																						uc003cdv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(352-354)GAA>GAC		solute carrier family 4, sodium bicarbonate							152.0	153.0	153.0					3																	27478926		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27478926T>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.354A>C	3.37:g.27478926T>G	ENSP00000295736:p.Glu118Asp					SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Missense_Mutation_p.E123D|SLC4A7_uc011aww.1_Missense_Mutation_p.E127D|SLC4A7_uc011awx.1_Missense_Mutation_p.E127D|SLC4A7_uc011awy.1_Missense_Mutation_p.E123D|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Missense_Mutation_p.E123D|SLC4A7_uc011axb.1_Missense_Mutation_p.E127D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdw.2_Missense_Mutation_p.E118D	p.E118D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN			4	425	-			118			Extracellular (Potential).		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.354A>C	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441105	0.83993	.	.	ENSG00000033867	ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000425128;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.73	-4.59	0.03400	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	M	0.88775	2.98	0.50813	D	0.999896	B;D;B;P;D;D;D;D;D	0.64830	0.125;0.989;0.234;0.507;0.994;0.968;0.994;0.994;0.989	B;P;B;B;D;P;D;D;P	0.70716	0.075;0.868;0.101;0.129;0.97;0.895;0.938;0.97;0.868	D	0.88696	0.3212	10	0.72032	D	0.01	.	12.9134	0.58192	0.0:0.5226:0.0:0.4774	.	127;123;123;127;127;123;118;118;123	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;B6DY53;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	D	118;118;127;127;123;123;123;127;127;123;118	ENSP00000295736:E118D;ENSP00000416368:E118D;ENSP00000390394:E127D;ENSP00000414797:E127D;ENSP00000394252:E123D;ENSP00000406605:E123D;ENSP00000407382:E123D;ENSP00000406804:E127D;ENSP00000395336:E127D;ENSP00000401949:E123D;ENSP00000388703:E118D	ENSP00000295736:E118D	E	-	3	2	SLC4A7	27453930	0.997000	0.39634	0.812000	0.32479	0.987000	0.75469	0.449000	0.21744	-1.112000	0.02984	0.397000	0.26171	GAA		0.373	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
COL6A5	256076	broad.mit.edu	37	3	130159541	130159541	+	Missense_Mutation	SNP	G	G	A	rs146634521	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:130159541G>A	ENST00000432398.2	+	35	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_ENST00000265379.6_Missense_Mutation_p.R2120H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2120	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17728	0.0		0.0	False		,,,				2504	0.0					uc010htj.1																			0					0						c.(6358-6360)CGT>CAT		collagen, type XXIX, alpha 1		G	HIS/ARG	0,3878		0,0,1939	104.0	100.0	101.0		6359	-7.9	0.0	3	dbSNP_134	101	1,8281		0,1,4140	no	missense	COL6A5	NM_153264.5	29	0,1,6079	AA,AG,GG		0.0121,0.0,0.0082	benign	2120/2527	130159541	1,12159	1939	4141	6080	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159541G>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6359G>A	3.37:g.130159541G>A	ENSP00000390895:p.Arg2120His					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.R159H	p.R2120H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6853	+			2120			VWFA 9.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6359G>A		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.938	-0.444420	0.04604	0.0	1.21E-4	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157	D;D;T	0.83163	-1.69;-1.69;2.56	5.65	-7.95	0.01148	von Willebrand factor, type A (3);	1.720190	0.03015	N	0.149901	T	0.55386	0.1917	N	0.01874	-0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.53365	-0.8449	10	0.14656	T	0.56	.	7.7923	0.29127	0.3947:0.2973:0.3081:0.0	.	2120;2120	A8TX70;A8TX70-2	CO6A5_HUMAN;.	H	2120;2120;63	ENSP00000390895:R2120H;ENSP00000265379:R2120H;ENSP00000362250:R63H	ENSP00000265379:R2120H	R	+	2	0	COL6A5	131642231	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.186000	0.03070	-1.288000	0.02378	-2.070000	0.00385	CGT		0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		26	Substitution - Missense(26)	p.G118D(6)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(352-354)GGT>GAT		phosphoinositide-3-kinase, catalytic, alpha							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)					p.G118D	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.353G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation
GABRA4	2557	broad.mit.edu	37	4	46930475	46930475	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:46930475C>T	ENST00000264318.3	-	9	2414	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	478					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GATCCAAACACGTGACGAGTA	0.488																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1432-1434)GTG>ATG		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						133.0	122.0	126.0					4																	46930475		2203	4300	6503	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46930475C>T		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1432G>A	4.37:g.46930475C>T	ENSP00000264318:p.Val478Met						p.V478M	NM_000809	NP_000800	P48169	GBRA4_HUMAN			9	1571	-			478			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1432G>A	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	6.105	0.387709	0.11581	.	.	ENSG00000109158	ENST00000264318	T	0.80214	-1.35	5.82	2.21	0.28008	Neurotransmitter-gated ion-channel transmembrane domain (2);	20.494100	0.00166	N	0.000000	T	0.73505	0.3595	L	0.29908	0.895	0.09310	N	1	P	0.49358	0.923	B	0.43838	0.433	T	0.60146	-0.7320	10	0.46703	T	0.11	.	4.3691	0.11239	0.2855:0.4921:0.0:0.2223	.	478	P48169	GBRA4_HUMAN	M	478	ENSP00000264318:V478M	ENSP00000264318:V478M	V	-	1	0	GABRA4	46625232	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.843000	0.27640	0.101000	0.17610	-0.864000	0.03007	GTG		0.488	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
CABS1	85438	broad.mit.edu	37	4	71201240	71201240	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:71201240G>A	ENST00000273936.5	+	1	558	c.484G>A	c.(484-486)Gtc>Atc	p.V162I		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	162					spermatogenesis (GO:0007283)	mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACCTCTGAAGTCTCTGGCAC	0.413																																						uc003hff.2																			0					0						c.(484-486)GTC>ATC		testis development protein NYD-SP26							55.0	58.0	57.0					4																	71201240		2201	4298	6499	SO:0001583	missense	85438					flagellum	calcium ion binding	g.chr4:71201240G>A	AF380838	CCDS3539.1	4q13.3	2013-10-11	2011-01-25	2011-01-25	ENSG00000145309	ENSG00000145309			30710	protein-coding gene	gene with protein product	"""casein-like phosphoprotein"""		"""chromosome 4 open reading frame 35"""	C4orf35		19208547, 19271754	Standard	NM_033122		Approved	NYD-SP26, FLJ32897, CLPH	uc003hff.3	Q96KC9	OTTHUMG00000129405	ENST00000273936.5:c.484G>A	4.37:g.71201240G>A	ENSP00000273936:p.Val162Ile						p.V162I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN			1	570	+		all_hematologic(202;0.196)	162					B2RCB5|Q86UE0|Q96M17	Missense_Mutation	SNP	ENST00000273936.5	37	c.484G>A	CCDS3539.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639350	0.29157	.	.	ENSG00000145309	ENST00000273936	T	0.24350	1.86	4.16	1.43	0.22495	.	0.910431	0.09048	N	0.856216	T	0.14917	0.0360	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.16289	0.015	T	0.33317	-0.9873	10	0.27785	T	0.31	-27.3367	2.4573	0.04532	0.1063:0.1906:0.5062:0.1968	.	162	Q96KC9	CABS1_HUMAN	I	162	ENSP00000273936:V162I	ENSP00000273936:V162I	V	+	1	0	CABS1	71235829	0.954000	0.32549	0.329000	0.25429	0.009000	0.06853	0.306000	0.19279	0.287000	0.22375	0.655000	0.94253	GTC		0.413	CABS1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251561.3	NM_033122	
SEC24B	10427	broad.mit.edu	37	4	110384778	110384778	+	Silent	SNP	G	G	A	rs374995428		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:110384778G>A	ENST00000265175.5	+	2	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_ENST00000504968.2_Silent_p.A316A|SEC24B_ENST00000399100.2_Silent_p.A285A	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	285					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413																																						uc003hzk.2																			0				ovary(2)|large_intestine(1)	3						c.(853-855)GCG>GCA		SEC24 (S. cerevisiae) homolog B isoform a		G	,	0,4080		0,0,2040	69.0	70.0	70.0		855,855	-0.0	0.0	4		70	1,8419		0,1,4209	no	coding-synonymous,coding-synonymous	SEC24B	NM_001042734.1,NM_006323.2	,	0,1,6249	AA,AG,GG		0.0119,0.0,0.0080	,	285/1234,285/1269	110384778	1,12499	2040	4210	6250	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110384778G>A	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.855G>A	4.37:g.110384778G>A						SEC24B_uc003hzl.2_Silent_p.A285A|SEC24B_uc011cfp.1_Silent_p.A316A|SEC24B_uc011cfq.1_Silent_p.A285A|SEC24B_uc011cfr.1_Silent_p.A285A	p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	2	910	+		Hepatocellular(203;0.217)	285					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.855G>A	CCDS47124.1																																																																																				0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
NAF1	92345	broad.mit.edu	37	4	164050096	164050096	+	Missense_Mutation	SNP	G	G	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:164050096G>C	ENST00000274054.2	-	8	1631	c.1438C>G	c.(1438-1440)Cca>Gca	p.P480A	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	480	Pro-rich.				pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAgagggtggaggaggcagt	0.458																																						uc003iqj.2																			0				ovary(2)	2						c.(1438-1440)CCA>GCA		nuclear assembly factor 1 homolog isoform a							15.0	17.0	16.0					4																	164050096		2183	4274	6457	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164050096G>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.1438C>G	4.37:g.164050096G>C	ENSP00000274054:p.Pro480Ala					NAF1_uc010iqw.1_Intron	p.P480A	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN			8	1632	-	all_hematologic(180;0.166)	Prostate(90;0.109)	480			Pro-rich.		D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.1438C>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599318	0.13939	.	.	ENSG00000145414	ENST00000274054	T	0.32988	1.43	3.73	2.88	0.33553	.	1.173640	0.06298	N	0.700433	T	0.24236	0.0587	L	0.32530	0.975	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.21518	-1.0243	10	0.37606	T	0.19	-1.5799	7.267	0.26235	0.1198:0.0:0.8802:0.0	.	480	Q96HR8	NAF1_HUMAN	A	480	ENSP00000274054:P480A	ENSP00000274054:P480A	P	-	1	0	NAF1	164269546	0.308000	0.24509	0.003000	0.11579	0.571000	0.35966	3.004000	0.49513	1.145000	0.42336	0.655000	0.94253	CCA		0.458	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386	
PALLD	23022	broad.mit.edu	37	4	169433085	169433085	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:169433085G>A	ENST00000335742.7	+	0	641				PALLD_ENST00000261509.6_Missense_Mutation_p.G144S|PALLD_ENST00000505667.1_Missense_Mutation_p.G144S|PALLD_ENST00000333488.4_Missense_Mutation_p.G21S			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein						cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.G144R(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAAAAGCGTGGTGCAAAAAC	0.512									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(430-432)GGT>AGT		palladin isoform 2							43.0	50.0	47.0					4																	169433085		2203	4300	6503			23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169433085G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000335742.7:c.-717G>A	4.37:g.169433085G>A						PALLD_uc003iru.2_Missense_Mutation_p.G144S	p.G144S	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	641	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	144					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000335742.7	37	c.430G>A		.	.	.	.	.	.	.	.	.	.	G	10.19	1.281237	0.23392	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898;ENST00000333488	T;T;T;T	0.63096	0.07;0.34;-0.02;0.02	5.55	1.93	0.25924	.	0.249710	0.20558	N	0.089970	T	0.47469	0.1447	L	0.41236	1.265	0.09310	N	0.999992	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.29119	-1.0022	10	0.26408	T	0.33	.	7.6858	0.28540	0.1977:0.1182:0.6842:0.0	.	144;144	B7ZMM5;B2RTX2	.;.	S	144;144;123;21	ENSP00000261509:G144S;ENSP00000425556:G144S;ENSP00000423063:G123S;ENSP00000328945:G21S	ENSP00000261509:G144S	G	+	1	0	PALLD	169669660	0.022000	0.18835	0.000000	0.03702	0.014000	0.08584	1.912000	0.39946	0.049000	0.15920	-0.216000	0.12614	GGT		0.512	PALLD-202	KNOWN	basic	protein_coding	protein_coding		NM_016081	
LRP2BP	55805	broad.mit.edu	37	4	186299262	186299262	+	Missense_Mutation	SNP	A	A	C	rs550850724		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:186299262A>C	ENST00000328559.7	-	1	890	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	LRP2BP_ENST00000510776.1_5'UTR|LRP2BP_ENST00000505916.1_Missense_Mutation_p.F27V|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Missense_Mutation_p.F27V	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	27						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CACTGGAAAAATTTTTGGTTT	0.378																																						uc003ixj.1																			0					0						c.(79-81)TTT>GTT		LRP2 binding protein							138.0	140.0	139.0					4																	186299262		2203	4300	6503	SO:0001583	missense	55805					cytoplasm	protein binding	g.chr4:186299262A>C	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.79T>G	4.37:g.186299262A>C	ENSP00000332681:p.Phe27Val					LRP2BP_uc003ixk.1_5'UTR|LRP2BP_uc011ckr.1_Missense_Mutation_p.F27V	p.F27V	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	1	891	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	27					A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	ENST00000328559.7	37	c.79T>G	CCDS3840.1	.	.	.	.	.	.	.	.	.	.	A	1.500	-0.552330	0.03996	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000505916;ENST00000511404	T;T;T	0.42900	0.97;0.96;0.96	4.96	-9.92	0.00455	.	1.503290	0.03427	N	0.207110	T	0.21718	0.0523	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06917	-1.0800	10	0.17832	T	0.49	0.0873	4.684	0.12748	0.2029:0.2271:0.4591:0.1109	.	27	Q9P2M1	LR2BP_HUMAN	V	27	ENSP00000354846:F27V;ENSP00000332681:F27V;ENSP00000426203:F27V	ENSP00000332681:F27V	F	-	1	0	LRP2BP	186536256	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.205000	0.01232	-2.191000	0.00756	-2.178000	0.00318	TTT		0.378	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409	
MARVELD2	153562	broad.mit.edu	37	5	68737366	68737366	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:68737366C>T	ENST00000325631.5	+	7	1636	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	MARVELD2_ENST00000413223.2_Missense_Mutation_p.T405I	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	521					cell-cell junction organization (GO:0045216)|establishment of endothelial barrier (GO:0061028)|sensory perception of sound (GO:0007605)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|paranodal junction (GO:0033010)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGGATCCTACATTTCTGGAA	0.318																																						uc003jwq.2																			0					0						c.(1561-1563)ACA>ATA		MARVEL domain containing 2 isoform 1							40.0	42.0	41.0					5																	68737366		2196	4297	6493	SO:0001583	missense	153562				sensory perception of sound	integral to membrane|tight junction		g.chr5:68737366C>T	AK055094	CCDS34175.1, CCDS58956.1	5q13.1	2007-05-01	2004-07-12	2004-07-14	ENSG00000152939	ENSG00000152939			26401	protein-coding gene	gene with protein product	"""tricellulin"""	610572	"""MARVEL (membrane-associating) domain containing 2"", ""deafness, autosomal recessive 49"""	MRVLDC2, DFNB49		17186462	Standard	NM_001038603		Approved	FLJ30532, TRIC	uc003jwq.3	Q8N4S9	OTTHUMG00000162512	ENST00000325631.5:c.1562C>T	5.37:g.68737366C>T	ENSP00000323264:p.Thr521Ile					MARVELD2_uc010ixf.2_Missense_Mutation_p.T509I|MARVELD2_uc003jwr.1_Intron|MARVELD2_uc003jws.1_RNA	p.T521I	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)	7	1621	+		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)	521			Cytoplasmic (Potential).		A1BQX0|A1BQX1|A8KA97|Q96NM9	Missense_Mutation	SNP	ENST00000325631.5	37	c.1562C>T	CCDS34175.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.587617	0.86851	.	.	ENSG00000152939	ENST00000325631;ENST00000454295;ENST00000436532;ENST00000413223	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.68	5.68	0.88126	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.266251	0.41938	D	0.000789	T	0.47911	0.1471	M	0.65975	2.015	0.51482	D	0.999925	P;D	0.56968	0.745;0.978	P;P	0.59703	0.549;0.862	T	0.39014	-0.9634	10	0.56958	D	0.05	-27.9407	18.5702	0.91132	0.0:1.0:0.0:0.0	.	509;521	Q8N4S9-3;Q8N4S9	.;MALD2_HUMAN	I	521;509;405;405	ENSP00000323264:T521I;ENSP00000396244:T509I;ENSP00000414776:T405I;ENSP00000398922:T405I	ENSP00000323264:T521I	T	+	2	0	MARVELD2	68773122	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.648000	0.67930	2.687000	0.91594	0.563000	0.77884	ACA		0.318	MARVELD2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369583.1	NM_144724	
FBN2	2201	broad.mit.edu	37	5	127728993	127728993	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:127728993G>T	ENST00000508053.1	-	16	2274	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FBN2_ENST00000508989.1_Missense_Mutation_p.P401T|FBN2_ENST00000262464.4_Missense_Mutation_p.P434T			P35556	FBN2_HUMAN	fibrillin 2	434					anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGCCTCCAGGTCTGGAACCA	0.532																																						uc003kuu.2																			0				ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1300-1302)CCT>ACT		fibrillin 2 precursor							80.0	72.0	75.0					5																	127728993		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127728993G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1300C>A	5.37:g.127728993G>T	ENSP00000424571:p.Pro434Thr					FBN2_uc003kuv.2_Missense_Mutation_p.P401T	p.P434T	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1739	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	434					B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1300C>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693301	0.30052	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.86562	-1.91;-1.91;-2.14	3.98	3.98	0.46160	.	0.277986	0.29594	N	0.011704	T	0.72684	0.3491	N	0.08118	0	0.31320	N	0.686117	B;B	0.22003	0.063;0.035	B;B	0.17098	0.017;0.012	T	0.68096	-0.5499	10	0.22109	T	0.4	.	12.3753	0.55277	0.0:0.0:0.8321:0.1679	.	401;434	D6RJI3;P35556	.;FBN2_HUMAN	T	434;434;401	ENSP00000262464:P434T;ENSP00000424571:P434T;ENSP00000425596:P401T	ENSP00000262464:P434T	P	-	1	0	FBN2	127756892	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	1.974000	0.40559	2.505000	0.84491	0.563000	0.77884	CCT		0.532	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PDLIM4	8572	broad.mit.edu	37	5	131607724	131607724	+	Silent	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:131607724C>G	ENST00000253754.3	+	7	859	c.795C>G	c.(793-795)acC>acG	p.T265T	P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.P226R	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	265	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGGGCACCATCGTCAAGG	0.617																																						uc003kwn.2																			0				ovary(1)|central_nervous_system(1)	2						c.(793-795)ACC>ACG		PDZ and LIM domain 4 isoform 1							124.0	89.0	101.0					5																	131607724		2203	4300	6503	SO:0001819	synonymous_variant	8572						protein binding|zinc ion binding	g.chr5:131607724C>G	AF153882	CCDS4152.1, CCDS47261.1	5q31.1	2008-02-05			ENSG00000131435	ENSG00000131435			16501	protein-coding gene	gene with protein product		603422				9573374	Standard	NM_001131027		Approved	RIL	uc003kwn.3	P50479	OTTHUMG00000059645	ENST00000253754.3:c.795C>G	5.37:g.131607724C>G						uc003kwm.3_Intron|PDLIM4_uc003kwp.2_Missense_Mutation_p.P226R|PDLIM4_uc003kwo.2_Silent_p.T373T	p.T265T	NM_003687	NP_003678	P50479	PDLI4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		7	872	+			265			LIM zinc-binding.		B2R8U1|Q53Y39|Q96AT8|Q9BTW8|Q9Y292	Silent	SNP	ENST00000253754.3	37	c.795C>G	CCDS4152.1	.	.	.	.	.	.	.	.	.	.	C	7.961	0.746972	0.15710	.	.	ENSG00000131435	ENST00000379018	T	0.23147	1.92	5.05	0.766	0.18476	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.23978	N	0.996288	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	8	0.19147	T	0.46	-16.463	5.7471	0.18126	0.1721:0.5514:0.2004:0.076	.	226	P50479-2	.	R	226	ENSP00000368303:P226R	ENSP00000368303:P226R	P	+	2	0	PDLIM4	131635623	0.011000	0.17503	1.000000	0.80357	0.952000	0.60782	-0.900000	0.04097	0.490000	0.27771	0.655000	0.94253	CCA		0.617	PDLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132644.2	NM_003687	
PCDHGA8	9708	broad.mit.edu	37	5	140774290	140774290	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:140774290C>T	ENST00000398604.2	+	1	1910	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	637	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)	p.A637E(1)		endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCGCTCAAGCAG	0.682																																						uc003lkd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1909-1911)GCG>GTG		protocadherin gamma subfamily A, 8 isoform 1							29.0	34.0	32.0					5																	140774290		2189	4276	6465	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774290C>T	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1910C>T	5.37:g.140774290C>T	ENSP00000381605:p.Ala637Val					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_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.A637V	p.A637V	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2808	+			637			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1910C>T	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822443	0.32237	.	.	ENSG00000253767	ENST00000398604	T	0.51817	0.69	5.02	1.22	0.21188	Cadherin (4);Cadherin-like (1);	0.000000	0.31010	U	0.008440	T	0.28466	0.0704	N	0.17379	0.485	0.09310	N	1	B;B	0.27853	0.113;0.191	B;B	0.26693	0.072;0.063	T	0.20306	-1.0279	10	0.62326	D	0.03	.	8.8079	0.34950	0.0:0.628:0.0:0.372	.	637;637	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	637	ENSP00000381605:A637V	ENSP00000381605:A637V	A	+	2	0	PCDHGA8	140754474	0.000000	0.05858	0.003000	0.11579	0.993000	0.82548	-0.231000	0.09069	0.192000	0.20272	0.650000	0.86243	GCG		0.682	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
DSP	1832	broad.mit.edu	37	6	7580369	7580369	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:7580369G>A	ENST00000379802.3	+	23	4287	c.3946G>A	c.(3946-3948)Gct>Act	p.A1316T	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1316	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGAGGAGGCTGCCAAGAC	0.512																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(3946-3948)GCT>ACT		desmoplakin isoform I							72.0	76.0	74.0					6																	7580369		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7580369G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.3946G>A	6.37:g.7580369G>A	ENSP00000369129:p.Ala1316Thr					DSP_uc003mxq.1_Intron	p.A1316T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4225	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1316			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.3946G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539517	0.65085	.	.	ENSG00000096696	ENST00000379802	T	0.71103	-0.54	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000014	T	0.71702	0.3371	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.67417	-0.5676	10	0.25106	T	0.35	.	18.5529	0.91072	0.0:0.0:1.0:0.0	.	1316	P15924	DESP_HUMAN	T	1316	ENSP00000369129:A1316T	ENSP00000369129:A1316T	A	+	1	0	DSP	7525368	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.561000	0.53770	2.495000	0.84180	0.552000	0.68991	GCT		0.512	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
COL11A2	1302	broad.mit.edu	37	6	33137189	33137189	+	Missense_Mutation	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:33137189T>C	ENST00000374708.4	-	49	3769	c.3511A>G	c.(3511-3513)Aca>Gca	p.T1171A	COL11A2_ENST00000361917.1_Missense_Mutation_p.T1150A|COL11A2_ENST00000341947.2_Missense_Mutation_p.T1257A|COL11A2_ENST00000357486.1_Missense_Mutation_p.T1236A|COL11A2_ENST00000374714.1_Missense_Mutation_p.T1231A|COL11A2_ENST00000374713.1_Missense_Mutation_p.T1210A|COL11A2_ENST00000395197.1_Missense_Mutation_p.T1197A|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.T1176A	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1257	Collagen-like 7.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCATCGCCTGTGGGGCCTTTA	0.627																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			0				ovary(3)|skin(2)	5						c.(3769-3771)ACA>GCA		collagen, type XI, alpha 2 isoform 1							50.0	45.0	47.0					6																	33137189		1510	2707	4217	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33137189T>C	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.3511A>G	6.37:g.33137189T>C	ENSP00000363840:p.Thr1171Ala					COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A	p.T1257A	NM_080680	NP_542411	P13942	COBA2_HUMAN			51	3997	-			1257	T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).		Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.3769A>G	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329976	0.24167	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.96104	-3.21;-3.91;-3.91;-3.91;-3.21;-3.21;-3.21;-3.21	4.88	3.72	0.42706	.	0.283033	0.33572	N	0.004764	T	0.75309	0.3832	N	0.03967	-0.31	0.38429	D	0.946397	B;B;B	0.28291	0.122;0.206;0.131	B;B;B	0.21917	0.037;0.037;0.024	T	0.71955	-0.4436	10	0.31617	T	0.26	.	5.1154	0.14831	0.0:0.0934:0.182:0.7247	.	1150;1171;1257	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	A	1171;1257;1236;1231;1210;1197;1176;1150	ENSP00000363840:T1171A;ENSP00000339915:T1257A;ENSP00000350079:T1236A;ENSP00000363846:T1231A;ENSP00000363845:T1210A;ENSP00000378623:T1197A;ENSP00000363844:T1176A;ENSP00000355123:T1150A	ENSP00000339915:T1257A	T	-	1	0	COL11A2	33245167	0.994000	0.37717	0.974000	0.42286	0.486000	0.33341	1.619000	0.36965	0.900000	0.36469	-0.463000	0.05309	ACA		0.627	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
KCNK17	89822	broad.mit.edu	37	6	39272395	39272395	+	Missense_Mutation	SNP	C	C	T	rs142227833		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:39272395C>T	ENST00000373231.4	-	3	621	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KCNK17_ENST00000453413.2_Missense_Mutation_p.R130H	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	130					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R130L(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612																																						uc003ooo.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(388-390)CGC>CAC		potassium channel, subfamily K, member 17		C	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	141.0	142.0	142.0		389,389	4.0	1.0	6	dbSNP_134	142	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNK17	NM_001135111.1,NM_031460.3	29,29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging	130/272,130/333	39272395	3,13003	2203	4300	6503	SO:0001583	missense	89822					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39272395C>T	AF358910	CCDS4842.1, CCDS47419.1	6p21	2012-03-07			ENSG00000124780	ENSG00000124780		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14465	protein-coding gene	gene with protein product		607370				16382106	Standard	NM_031460		Approved	K2p17.1, TALK-2, TALK2, TASK4, TASK-4	uc003ooo.3	Q96T54	OTTHUMG00000014646	ENST00000373231.4:c.389G>A	6.37:g.39272395C>T	ENSP00000362328:p.Arg130His					KCNK17_uc003oop.2_Missense_Mutation_p.R130H	p.R130H	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN			3	529	-			130			Helical; (Potential).		E9PB46|Q5TCF4|Q8TAW4|Q9BXD1|Q9H592	Missense_Mutation	SNP	ENST00000373231.4	37	c.389G>A	CCDS4842.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061379	0.76187	4.54E-4	1.16E-4	ENSG00000124780	ENST00000373231;ENST00000453413	T;T	0.41065	1.01;1.01	4.87	3.99	0.46301	Ion transport 2 (1);	0.111955	0.38164	N	0.001798	T	0.49626	0.1568	M	0.82132	2.575	0.29186	N	0.876185	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.987	T	0.51084	-0.8750	10	0.87932	D	0	.	7.9952	0.30265	0.0:0.8077:0.0:0.1923	.	130;130	E9PB46;Q96T54	.;KCNKH_HUMAN	H	130	ENSP00000362328:R130H;ENSP00000401271:R130H	ENSP00000362328:R130H	R	-	2	0	KCNK17	39380373	0.922000	0.31269	0.994000	0.49952	0.908000	0.53690	1.535000	0.36061	1.007000	0.39238	0.561000	0.74099	CGC		0.612	KCNK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040453.2	NM_031460	
PTK7	5754	broad.mit.edu	37	6	43109453	43109453	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:43109453C>T	ENST00000230419.4	+	11	1887	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	PTK7_ENST00000352931.2_Missense_Mutation_p.H556Y|PTK7_ENST00000481273.1_Missense_Mutation_p.H564Y|PTK7_ENST00000345201.2_Missense_Mutation_p.H516Y|PTK7_ENST00000349241.2_Missense_Mutation_p.H426Y	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	556	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGGACCCTGCATTTTGCCCG	0.582																																						uc003oub.1																			0				ovary(2)|large_intestine(1)	3						c.(1666-1668)CAT>TAT		PTK7 protein tyrosine kinase 7 isoform a							144.0	141.0	142.0					6																	43109453		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109453C>T	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1666C>T	6.37:g.43109453C>T	ENSP00000230419:p.His556Tyr					PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.H564Y|PTK7_uc010jyj.1_Intron	p.H556Y	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		11	1864	+			556			Ig-like C2-type 6.|Extracellular (Potential).		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.1666C>T	CCDS4884.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272732	0.59649	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.27402	1.67;2.75;1.67;2.75;1.67	5.23	5.23	0.72850	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.338942	0.33732	N	0.004603	T	0.20618	0.0496	N	0.22421	0.69	0.46416	D	0.99903	B;P;P;D;B	0.56521	0.11;0.951;0.883;0.976;0.1	B;P;P;P;B	0.56127	0.145;0.792;0.685;0.792;0.098	T	0.02202	-1.1196	10	0.23891	T	0.37	.	12.6339	0.56673	0.0:0.9135:0.0:0.0865	.	564;426;516;556;556	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	Y	556;426;556;516;564	ENSP00000230419:H556Y;ENSP00000325462:H426Y;ENSP00000326029:H556Y;ENSP00000325992:H516Y;ENSP00000418754:H564Y	ENSP00000230418:H556Y	H	+	1	0	PTK7	43217431	1.000000	0.71417	0.990000	0.47175	0.635000	0.38103	2.662000	0.46766	2.440000	0.82611	0.561000	0.74099	CAT		0.582	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2		
TINAG	27283	broad.mit.edu	37	6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	rs115438249	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370869.3_Missense_Mutation_p.R187C|TINAG_ENST00000370864.3_Missense_Mutation_p.R173C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373																																						uc003pcj.2																			1	Substitution - Missense(1)		cervix(1)	ovary(3)|central_nervous_system(1)	4						c.(571-573)CGC>TGC		tubulointerstitial nephritis antigen		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	139.0	126.0	131.0		571	5.8	1.0	6	dbSNP_133	131	0,8600		0,0,4300	yes	missense	TINAG	NM_014464.3	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	191/477	54191661	2,13004	2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54191661C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.571C>T	6.37:g.54191661C>T	ENSP00000259782:p.Arg191Cys					TINAG_uc010jzt.2_RNA	p.R191C	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		4	717	+	Lung NSC(77;0.0518)		191					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.571C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999074	0.74818	4.54E-4	0.0	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.77877	-1.13;-1.13;-1.13	5.82	5.82	0.92795	.	0.349950	0.28544	N	0.014979	D	0.86506	0.5949	M	0.85462	2.755	0.58432	D	0.999999	D	0.89917	1.0	D	0.63957	0.92	D	0.88133	0.2839	10	0.87932	D	0	.	15.6145	0.76753	0.0:1.0:0.0:0.0	.	191	Q9UJW2	TINAG_HUMAN	C	187;141;191;173	ENSP00000359906:R187C;ENSP00000259782:R191C;ENSP00000359901:R173C	ENSP00000259782:R191C	R	+	1	0	TINAG	54299620	0.997000	0.39634	0.967000	0.41034	0.737000	0.42083	4.282000	0.58971	2.751000	0.94390	0.643000	0.83706	CGC		0.373	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
TINAG	27283	broad.mit.edu	37	6	54254704	54254704	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54254704C>T	ENST00000259782.4	+	11	1508	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGCCAACTGACGAGTTCTGAT	0.403																																						uc003pcj.2																			0				ovary(3)|central_nervous_system(1)	4						c.(1411-1413)ACG>ATG		tubulointerstitial nephritis antigen							128.0	126.0	127.0					6																	54254704		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254704C>T	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1412C>T	6.37:g.54254704C>T	ENSP00000259782:p.Thr471Met					TINAG_uc010jzt.2_RNA	p.T471M	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1558	+	Lung NSC(77;0.0518)		471					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1412C>T	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184949	0.78677	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	T	0.66460	-0.21	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000009	T	0.67496	0.2899	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.65010	0.931	T	0.70160	-0.4948	10	0.59425	D	0.04	.	15.4234	0.75031	0.0:1.0:0.0:0.0	.	471	Q9UJW2	TINAG_HUMAN	M	330;471;150	ENSP00000259782:T471M	ENSP00000259782:T471M	T	+	2	0	TINAG	54362663	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.229000	0.58625	2.704000	0.92352	0.591000	0.81541	ACG		0.403	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464	
RIMS1	22999	broad.mit.edu	37	6	72993805	72993805	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:72993805G>T	ENST00000521978.1	+	24	3538	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	RIMS1_ENST00000425662.2_Missense_Mutation_p.A481S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517827.1_Missense_Mutation_p.A547S|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.A561S|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.A37S	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1180					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAGGCACTGCCTCTGATGC	0.398																																						uc003pga.2																			0				ovary(7)|pancreas(2)|breast(1)	10						c.(3538-3540)GCC>TCC		regulating synaptic membrane exocytosis 1							127.0	128.0	128.0					6																	72993805		1960	4152	6112	SO:0001583	missense	22999				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72993805G>T	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3538G>T	6.37:g.72993805G>T	ENSP00000428417:p.Ala1180Ser					RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Missense_Mutation_p.A561S|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Missense_Mutation_p.A481S|RIMS1_uc011dyd.1_Missense_Mutation_p.A547S|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Missense_Mutation_p.A37S|RIMS1_uc011dyf.1_Missense_Mutation_p.A37S	p.A1180S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN			24	3615	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1180					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3538G>T	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	G	8.803	0.933348	0.18131	.	.	ENSG00000079841	ENST00000521978;ENST00000401910;ENST00000425662;ENST00000517827;ENST00000538414	T;T;T;T;T	0.17691	2.59;2.67;2.64;2.62;2.26	5.81	4.05	0.47172	.	0.245131	0.28521	N	0.015055	T	0.03178	0.0093	L	0.32530	0.975	0.27650	N	0.947435	B;B;B;B;B	0.27229	0.005;0.0;0.0;0.0;0.172	B;B;B;B;B	0.22386	0.007;0.0;0.001;0.001;0.039	T	0.41431	-0.9509	10	0.02654	T	1	-1.7953	12.3146	0.54948	0.1362:0.0:0.8638:0.0	.	37;37;547;561;1180	B7Z6K9;B7Z7W2;B7Z3S3;E9PF48;Q86UR5	.;.;.;.;RIMS1_HUMAN	S	1180;561;481;547;37	ENSP00000428417:A1180S;ENSP00000385649:A561S;ENSP00000411235:A481S;ENSP00000428367:A547S;ENSP00000439730:A37S	ENSP00000385649:A561S	A	+	1	0	RIMS1	73050526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.785000	0.47782	0.825000	0.34637	0.460000	0.39030	GCC		0.398	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
MAP3K7	6885	broad.mit.edu	37	6	91226312	91226312	+	Nonsense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:91226312C>A	ENST00000369329.3	-	17	1890	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369320.1_Nonsense_Mutation_p.E231*|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_Nonsense_Mutation_p.E550*	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	577					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTTGTTTTCATCTAAAAGC	0.408																																						uc003pnz.1																			0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1729-1731)GAA>TAA		mitogen-activated protein kinase kinase kinase 7							150.0	141.0	144.0					6																	91226312		2203	4300	6503	SO:0001587	stop_gained	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91226312C>A	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1729G>T	6.37:g.91226312C>A	ENSP00000358335:p.Glu577*					MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poc.1_3'UTR	p.E577*	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	17	1891	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	577					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	ENST00000369329.3	37	c.1729G>T	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	38	7.158823	0.98103	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369320	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	.	.	.	X	550;577;231	.	ENSP00000358326:E231X	E	-	1	0	MAP3K7	91283033	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.688000	0.91661	0.655000	0.94253	GAA		0.408	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	
LAMA4	3910	broad.mit.edu	37	6	112496666	112496666	+	Missense_Mutation	SNP	C	C	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:112496666C>A	ENST00000230538.7	-	11	1603	c.1206G>T	c.(1204-1206)atG>atT	p.M402I	LAMA4_ENST00000522006.1_Missense_Mutation_p.M395I|LAMA4_ENST00000424408.2_Missense_Mutation_p.M395I|LAMA4_ENST00000389463.4_Missense_Mutation_p.M395I	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	402	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAATAGAGCATCTTGTTGT	0.483																																						uc003pvu.2																			0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(1204-1206)ATG>ATT		laminin, alpha 4 isoform 1 precursor							119.0	120.0	120.0					6																	112496666		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112496666C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1206G>T	6.37:g.112496666C>A	ENSP00000230538:p.Met402Ile					LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I	p.M402I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	11	1515	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	402			Potential.|Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1206G>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866414	0.51588	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	5.71	5.71	0.89125	Laminin I (1);	0.140958	0.64402	D	0.000003	T	0.04227	0.0117	L	0.47716	1.5	0.80722	D	1	P;P	0.35656	0.514;0.458	B;B	0.32342	0.144;0.089	T	0.44174	-0.9345	10	0.18276	T	0.48	.	17.6287	0.88100	0.0:1.0:0.0:0.0	.	402;395	Q16363;Q16363-2	LAMA4_HUMAN;.	I	402;395;395;395	ENSP00000230538:M402I;ENSP00000429488:M395I;ENSP00000374114:M395I;ENSP00000416470:M395I	ENSP00000230538:M402I	M	-	3	0	LAMA4	112603359	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.019000	0.49635	2.707000	0.92482	0.655000	0.94253	ATG		0.483	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
DSE	29940	broad.mit.edu	37	6	116757126	116757126	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:116757126G>A	ENST00000331677.3	+	7	1939	c.1495G>A	c.(1495-1497)Gtg>Atg	p.V499M	DSE_ENST00000452085.3_Missense_Mutation_p.V499M|DSE_ENST00000537543.1_Missense_Mutation_p.V518M|DSE_ENST00000359564.2_Missense_Mutation_p.V499M			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	499					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTCCCTGGGTGGGTCAGGT	0.483																																						uc003pws.2																			0				ovary(1)	1						c.(1495-1497)GTG>ATG		dermatan sulfate epimerase precursor							65.0	61.0	62.0					6																	116757126		2203	4300	6503	SO:0001583	missense	29940				dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity	g.chr6:116757126G>A	AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1495G>A	6.37:g.116757126G>A	ENSP00000332151:p.Val499Met					DSE_uc011ebg.1_Missense_Mutation_p.V518M|DSE_uc003pwt.2_Missense_Mutation_p.V499M|DSE_uc003pwu.2_Missense_Mutation_p.V166M	p.V499M	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)	6	1689	+		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)	499					Q5R3K6	Missense_Mutation	SNP	ENST00000331677.3	37	c.1495G>A	CCDS5107.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264086	0.39995	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.79	5.79	0.91817	.	0.106297	0.64402	D	0.000004	T	0.04497	0.0123	N	0.08118	0	0.29922	N	0.822611	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.001	T	0.23655	-1.0182	10	0.56958	D	0.05	-14.6885	15.511	0.75782	0.0:0.1376:0.8624:0.0	.	518;499	B7Z765;Q9UL01	.;DSE_HUMAN	M	499;518;499;499	ENSP00000404049:V499M;ENSP00000441152:V518M;ENSP00000332151:V499M;ENSP00000352567:V499M	ENSP00000332151:V499M	V	+	1	0	DSE	116863819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.759000	0.85235	2.748000	0.94277	0.650000	0.86243	GTG		0.483	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2	NM_013352	
COL28A1	340267	broad.mit.edu	37	7	7412801	7412801	+	Silent	SNP	T	T	C			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:7412801T>C	ENST00000399429.3	-	32	2876	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	912	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGTTTCTCTTTATCACGAG	0.443																																						uc003src.1																			0				skin(3)	3						c.(2734-2736)AAA>AAG		collagen, type XXVIII precursor							101.0	96.0	97.0					7																	7412801		1932	4126	6058	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7412801T>C	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.2736A>G	7.37:g.7412801T>C						COL28A1_uc011jxe.1_Silent_p.K595K	p.K912K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	32	2853	-		Ovarian(82;0.0789)	912			VWFA 2.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.2736A>G	CCDS43553.1																																																																																				0.443	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763	
C7orf57	136288	broad.mit.edu	37	7	48081010	48081010	+	Missense_Mutation	SNP	C	C	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:48081010C>G	ENST00000348904.3	+	3	347	c.135C>G	c.(133-135)agC>agG	p.S45R	C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.S90R|C7orf57_ENST00000539619.1_Missense_Mutation_p.S45R|C7orf57_ENST00000420324.1_Missense_Mutation_p.S90R	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537																																						uc003toh.3																			0				ovary(1)	1						c.(133-135)AGC>AGG		hypothetical protein LOC136288							51.0	54.0	53.0					7																	48081010		1923	4140	6063	SO:0001583	missense	136288							g.chr7:48081010C>G	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.135C>G	7.37:g.48081010C>G	ENSP00000335500:p.Ser45Arg					C7orf57_uc003toi.3_5'UTR	p.S45R	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	347	+			45					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.135C>G	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207241	0.39003	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.69	-2.74	0.05932	.	0.165408	0.52532	D	0.000065	T	0.64394	0.2594	M	0.83012	2.62	0.23848	N	0.996677	D	0.76494	0.999	D	0.71656	0.974	T	0.61647	-0.7020	10	0.72032	D	0.01	-8.204	12.1783	0.54198	0.0:0.355:0.0:0.645	.	45	Q8NEG2	CG057_HUMAN	R	90;90;45;45	ENSP00000394648:S90R;ENSP00000410944:S90R;ENSP00000335500:S45R;ENSP00000442474:S45R	ENSP00000335500:S45R	S	+	3	2	C7orf57	48047535	0.056000	0.20664	0.018000	0.16275	0.180000	0.23129	-0.209000	0.09358	-0.403000	0.07622	0.563000	0.77884	AGC		0.537	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159	
EGFR	1956	broad.mit.edu	37	7	55221716	55221716	+	Missense_Mutation	SNP	T	T	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:55221716T>A	ENST00000275493.2	+	7	937	c.760T>A	c.(760-762)Ttc>Atc	p.F254I	EGFR_ENST00000344576.2_Missense_Mutation_p.F254I|EGFR_ENST00000442591.1_Missense_Mutation_p.F254I|EGFR_ENST00000455089.1_Missense_Mutation_p.F209I|EGFR_ENST00000454757.2_Missense_Mutation_p.F201I|EGFR_ENST00000420316.2_Missense_Mutation_p.F254I|EGFR_ENST00000342916.3_Missense_Mutation_p.F254I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	254			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CTGCCGCAAATTCCGAGACGA	0.587		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		0		p.V30_R297>G(5)|p.F254F(1)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(760-762)TTC>ATC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						188.0	149.0	162.0					7																	55221716		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221716T>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.760T>A	7.37:g.55221716T>A	ENSP00000275493:p.Phe254Ile	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.F254I|EGFR_uc003tqi.2_Missense_Mutation_p.F254I|EGFR_uc003tqj.2_Missense_Mutation_p.F254I|EGFR_uc010kzg.1_Missense_Mutation_p.F209I|EGFR_uc011kco.1_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.F254I	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1006	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		254			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.760T>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018809	0.75275	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.81631	0.4863	M	0.87827	2.91	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.973;0.997;0.988;0.993;0.969	D	0.85069	0.0939	10	0.87932	D	0	.	14.7433	0.69472	0.0:0.0:0.0:1.0	.	209;254;254;254;254	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	I	209;254;124;254;254;254;254;201;48	ENSP00000415559:F209I;ENSP00000342376:F254I;ENSP00000345973:F254I;ENSP00000413843:F254I;ENSP00000275493:F254I;ENSP00000410031:F254I;ENSP00000395243:F201I	ENSP00000275493:F254I	F	+	1	0	EGFR	55189210	1.000000	0.71417	0.942000	0.38095	0.137000	0.21094	8.016000	0.88706	2.167000	0.68274	0.260000	0.18958	TTC		0.587	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
WBSCR17	64409	broad.mit.edu	37	7	71135089	71135089	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:71135089G>A	ENST00000333538.5	+	8	2033	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	467	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413																																						uc003tvy.2																			0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1399-1401)GGG>AGG		UDP-GalNAc:polypeptide							208.0	202.0	204.0					7																	71135089		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71135089G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1399G>A	7.37:g.71135089G>A	ENSP00000329654:p.Gly467Arg					WBSCR17_uc003tvz.2_Missense_Mutation_p.G166R	p.G467R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			8	1399	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	467			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1399G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622902	0.87460	.	.	ENSG00000185274	ENST00000333538	T	0.35605	1.3	5.04	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.68063	0.2960	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76361	-0.2987	10	0.87932	D	0	.	17.3746	0.87389	0.0:0.0:1.0:0.0	.	467	Q6IS24	GLTL3_HUMAN	R	467	ENSP00000329654:G467R	ENSP00000329654:G467R	G	+	1	0	WBSCR17	70773025	1.000000	0.71417	0.980000	0.43619	0.715000	0.41141	9.869000	0.99810	2.346000	0.79739	0.591000	0.81541	GGG		0.413	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
SAMD9	54809	broad.mit.edu	37	7	92733048	92733048	+	Missense_Mutation	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:92733048C>T	ENST00000379958.2	-	3	2632	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	788						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTATTCCTGACGGTTCATTGC	0.378																																						uc003umf.2																			0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(2362-2364)CGT>CAT		sterile alpha motif domain containing 9							119.0	115.0	116.0					7																	92733048		2203	4299	6502	SO:0001583	missense	54809					cytoplasm		g.chr7:92733048C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2363G>A	7.37:g.92733048C>T	ENSP00000369292:p.Arg788His					SAMD9_uc003umg.2_Missense_Mutation_p.R788H	p.R788H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	2619	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		788					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2363G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.283237	0.00020	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81579	-1.51;-1.51	4.44	3.17	0.36434	.	0.751666	0.11604	N	0.547485	T	0.45498	0.1345	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41787	-0.9489	10	0.19147	T	0.46	.	6.2536	0.20861	0.0:0.248:0.0:0.752	.	788	Q5K651	SAMD9_HUMAN	H	788	ENSP00000369292:R788H;ENSP00000414529:R788H	ENSP00000369292:R788H	R	-	2	0	SAMD9	92570984	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	0.031000	0.13710	0.583000	0.29574	-0.466000	0.05196	CGT		0.378	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
TRIM56	81844	broad.mit.edu	37	7	100730794	100730794	+	Silent	SNP	C	C	T	rs372986771		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:100730794C>T	ENST00000306085.6	+	3	498	c.201C>T	c.(199-201)ccC>ccT	p.P67P		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	67					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGCCCGAGGGTGTGG	0.677																																					Ovarian(89;1092 1379 22756 38989 39611)	uc003uxq.2																			0				kidney(1)|central_nervous_system(1)|skin(1)	3						c.(199-201)CCC>CCT		tripartite motif-containing 56							42.0	53.0	49.0					7																	100730794		2136	4244	6380	SO:0001819	synonymous_variant	81844				defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	g.chr7:100730794C>T	BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.201C>T	7.37:g.100730794C>T						TRIM56_uc003uxr.2_Silent_p.P67P	p.P67P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN			3	432	+	Lung NSC(181;0.136)|all_lung(186;0.182)		67					Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	ENST00000306085.6	37	c.201C>T	CCDS43625.1																																																																																				0.677	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347185.1	NM_030961	
RELN	5649	broad.mit.edu	37	7	103159906	103159906	+	Missense_Mutation	SNP	G	G	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:103159906G>T	ENST00000428762.1	-	49	7885	c.7726C>A	c.(7726-7728)Caa>Aaa	p.Q2576K	RELN_ENST00000343529.5_Missense_Mutation_p.Q2576K|RELN_ENST00000424685.2_Missense_Mutation_p.Q2576K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2576					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTAAAATTGGATGAACTCA	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(7726-7728)CAA>AAA		reelin isoform a							123.0	104.0	111.0					7																	103159906		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103159906G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7726C>A	7.37:g.103159906G>T	ENSP00000392423:p.Gln2576Lys					RELN_uc010liz.2_Missense_Mutation_p.Q2576K	p.Q2576K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	49	7886	-			2576					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.7726C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	32	5.143145	0.94560	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.26373	1.74;1.74;1.74	5.87	5.87	0.94306	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.73598	2.24	0.58432	D	0.999999	D;P	0.71674	0.998;0.911	D;P	0.76071	0.987;0.89	T	0.54682	-0.8257	10	0.72032	D	0.01	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	2576;2576	P78509-2;P78509	.;RELN_HUMAN	K	2576;2576;2576;93;2576	ENSP00000392423:Q2576K;ENSP00000345694:Q2576K;ENSP00000388446:Q2576K	ENSP00000345694:Q2576K	Q	-	1	0	RELN	102947142	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	9.441000	0.97557	2.780000	0.95670	0.655000	0.94253	CAA		0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
TAS2R41	259287	broad.mit.edu	37	7	143175728	143175728	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:143175728G>A	ENST00000408916.1	+	1	763	c.763G>A	c.(763-765)Gca>Aca	p.A255T	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	255					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATTGATGCCGCAAAATTTAT	0.493																																						uc003wdc.1																			0				pancreas(1)|skin(1)	2						c.(763-765)GCA>ACA		taste receptor, type 2, member 41							134.0	133.0	134.0					7																	143175728		2036	4193	6229	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175728G>A	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.763G>A	7.37:g.143175728G>A	ENSP00000386201:p.Ala255Thr					uc003wda.2_Intron	p.A255T	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	763	+	Melanoma(164;0.15)		255			Helical; Name=6; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.763G>A	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	A	0.047	-1.261440	0.01445	.	.	ENSG00000221855	ENST00000408916	T	0.00700	5.82	6.0	-2.55	0.06288	.	0.960065	0.08579	N	0.924818	T	0.00552	0.0018	N	0.11673	0.155	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43130	-0.9410	10	0.19590	T	0.45	.	9.7365	0.40390	0.2395:0.1135:0.647:0.0	.	255	P59536	T2R41_HUMAN	T	255	ENSP00000386201:A255T	ENSP00000386201:A255T	A	+	1	0	TAS2R41	142885850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.318000	0.02705	-0.547000	0.06207	-0.977000	0.02584	GCA		0.493	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
DLGAP2	9228	broad.mit.edu	37	8	1649565	1649565	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:1649565G>A	ENST00000421627.2	+	12	3055	c.2921G>A	c.(2920-2922)cGg>cAg	p.R974Q		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	1053					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCAGACCCGGCTCTGAGGG	0.706																																						uc003wpl.2																			0					0						c.(2920-2922)CGG>CAG		discs large-associated protein 2							9.0	12.0	11.0					8																	1649565		2180	4288	6468	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1649565G>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2921G>A	8.37:g.1649565G>A	ENSP00000400258:p.Arg974Gln					DLGAP2_uc003wpm.2_Missense_Mutation_p.R960Q	p.R974Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	12	3018	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	1053					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.2921G>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.359716|6.359716	0.97502|0.97502	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.22336	.|1.96	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54062|0.54062	0.1835|0.1835	M|M	0.86268|0.86268	2.805|2.805	0.46061|0.46061	D|D	0.998848|0.998848	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.998;0.999	T|T	0.60332|0.60332	-0.7284|-0.7284	5|10	.|0.87932	.|D	.|0	-16.0272|-16.0272	19.3914|19.3914	0.94584|0.94584	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1039;1053	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|Q	977|1005;974	.|ENSP00000400258:R974Q	.|ENSP00000348366:R1005Q	G|R	+|+	1|2	0|0	DLGAP2|DLGAP2	1636972|1636972	1.000000|1.000000	0.71417|0.71417	0.935000|0.935000	0.37517|0.37517	0.953000|0.953000	0.61014|0.61014	9.302000|9.302000	0.96175|0.96175	2.587000|2.587000	0.87381|0.87381	0.491000|0.491000	0.48974|0.48974	GGC|CGG		0.706	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
ADAM28	10863	broad.mit.edu	37	8	24199150	24199150	+	Silent	SNP	G	G	A	rs145453785	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													G|||	3	0.000599042	0.0023	0.0	5008	,	,		21334	0.0		0.0	False		,,,				2504	0.0				NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2																			1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(1708-1710)TCG>TCA		ADAM metallopeptidase domain 28 isoform 1		G		3,4403	6.2+/-15.9	0,3,2200	263.0	251.0	255.0		1710	-1.3	0.2	8	dbSNP_134	255	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	ADAM28	NM_014265.4		0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692		570/776	24199150	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199150G>A	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1710G>A	8.37:g.24199150G>A						ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.S257S	p.S570S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1793	+		Prostate(55;0.0959)	570			Extracellular (Potential).|Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1710G>A	CCDS34865.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.066	-1.212798	0.01555	6.81E-4	6.98E-4	ENSG00000042980	ENST00000521629	.	.	.	5.84	-1.3	0.09259	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.22142	N	0.999336	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	.	2.6844	0.05103	0.6138:0.1127:0.152:0.1216	.	.	.	.	R	203	.	.	G	+	1	0	ADAM28	24255095	0.005000	0.15991	0.213000	0.23690	0.003000	0.03518	1.195000	0.32186	-0.393000	0.07739	-2.289000	0.00267	GGA		0.413	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ARHGAP39	80728	broad.mit.edu	37	8	145771184	145771184	+	Missense_Mutation	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:145771184A>G	ENST00000276826.5	-	5	2171	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.L657P|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.L657P			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	657					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACAGGCAGCGAGGTCCTCAGA	0.672																																						uc003zdt.1																			0					0						c.(1969-1971)CTC>CCC		KIAA1688 protein							12.0	11.0	12.0					8																	145771184		2186	4255	6441	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145771184A>G		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1970T>C	8.37:g.145771184A>G	ENSP00000276826:p.Leu657Pro					ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zds.1_Missense_Mutation_p.L657P	p.L657P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN			7	2525	-			657					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1970T>C		.	.	.	.	.	.	.	.	.	.	A	14.80	2.642913	0.47153	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.72282	-0.64;-0.36;-0.64	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000001	T	0.80539	0.4642	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.80863	-0.1192	10	0.48119	T	0.1	-11.4423	12.9475	0.58382	1.0:0.0:0.0:0.0	.	657;657	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	P	657	ENSP00000276826:L657P;ENSP00000366522:L657P;ENSP00000445075:L657P	ENSP00000276826:L657P	L	-	2	0	ARHGAP39	145741992	1.000000	0.71417	0.879000	0.34478	0.970000	0.65996	5.939000	0.70179	1.953000	0.56701	0.528000	0.53228	CTC		0.672	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1		
FREM1	158326	broad.mit.edu	37	9	14784500	14784500	+	Missense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:14784500G>A	ENST00000380880.3	-	24	5093	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	FREM1_ENST00000422223.2_Missense_Mutation_p.P1437L|FREM1_ENST00000380881.4_Missense_Mutation_p.P1438L			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1437					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATATCGCGGAGGGGAGGT	0.488																																						uc003zlm.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(4309-4311)CCG>CTG		FRAS1 related extracellular matrix 1 precursor							106.0	103.0	104.0					9																	14784500		2012	4162	6174	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14784500G>A	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4310C>T	9.37:g.14784500G>A	ENSP00000370262:p.Pro1437Leu					FREM1_uc010mic.2_Intron	p.P1437L	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	24	4900	-			1437			CSPG 10.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4310C>T	CCDS47952.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.565913	0.65651	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	D;D;D	0.82255	-1.59;-1.59;-1.59	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94480	0.7692	10	0.87932	D	0	-14.732	19.8285	0.96626	0.0:0.0:1.0:0.0	.	1437	Q5H8C1	FREM1_HUMAN	L	1438;1437;1437	ENSP00000370263:P1438L;ENSP00000412940:P1437L;ENSP00000370262:P1437L	ENSP00000370262:P1437L	P	-	2	0	FREM1	14774500	1.000000	0.71417	0.173000	0.22940	0.027000	0.11550	9.374000	0.97172	2.758000	0.94735	0.591000	0.81541	CCG		0.488	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2	NM_144966	
FOXD4L5	653427	broad.mit.edu	37	9	70177746	70177747	+	In_Frame_Ins	INS	-	-	GCC	rs558775574	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:70177746_70177747insGCC	ENST00000377420.1	-	1	1068_1069	c.237_238insGGC	c.(235-240)ggcccg>ggcGGCccg	p.79_80insG		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	79					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G79G(2)		endometrium(5)|lung(2)	7						GGGTCACTCGGGCCGCCGCCGC	0.688																																						uc010moc.2																			2	Substitution - coding silent(2)		endometrium(2)		0						c.(235-240)insGGC		forkhead box D4-like 5																																				SO:0001652	inframe_insertion	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177746_70177747insGCC		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.235_237dupGGC	9.37:g.70177753_70177755dupGCC	ENSP00000366637:p.Gly79_Gly79dup						p.79_80insG	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			1	1069_1070	-			79_80						In_Frame_Ins	INS	ENST00000377420.1	37	c.237_238insGGC	CCDS47977.1																																																																																				0.688	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334	
PHF8	23133	broad.mit.edu	37	X	53970579	53970579	+	Silent	SNP	C	C	T			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:53970579C>T	ENST00000357988.5	-	20	3103	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PHF8_ENST00000322659.8_Silent_p.K862K|PHF8_ENST00000338154.6_Silent_p.K879K|PHF8_ENST00000338946.6_Silent_p.K778K	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	915					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGCCAGCTTTGCAGCTG	0.592																																						uc004dsu.2																			0				ovary(3)	3						c.(2743-2745)AAG>AAA		PHD finger protein 8							49.0	37.0	41.0					X																	53970579		2203	4300	6503	SO:0001819	synonymous_variant	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:53970579C>T	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2745G>A	X.37:g.53970579C>T						PHF8_uc004dst.2_Silent_p.K879K|PHF8_uc004dsv.2_Silent_p.K745K|PHF8_uc004dsw.2_Silent_p.K778K|PHF8_uc004dsx.2_Silent_p.K643K|PHF8_uc004dsy.2_Silent_p.K862K	p.K915K	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			20	2818	-			915					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	ENST00000357988.5	37	c.2745G>A	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.835|8.835	0.940821|0.940821	0.18281|0.18281	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000443302|ENST00000396282	.|.	.|.	.|.	4.96|4.96	-0.466|-0.466	0.12153|0.12153	.|.	.|.	.|.	.|.	.|.	T|T	0.56877|0.56877	0.2015|0.2015	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50197|0.50197	-0.8856|-0.8856	4|4	.|.	.|.	.|.	-14.4167|-14.4167	9.8541|9.8541	0.41075|0.41075	0.0:0.294:0.0:0.706|0.0:0.294:0.0:0.706	.|.	.|.	.|.	.|.	T|N	643|783	.|.	.|.	A|S	-|-	1|2	0|0	PHF8|PHF8	53987304|53987304	0.999000|0.999000	0.42202|0.42202	0.980000|0.980000	0.43619|0.43619	0.990000|0.990000	0.78478|0.78478	0.408000|0.408000	0.21065|0.21065	-0.303000|-0.303000	0.08856|0.08856	-0.402000|-0.402000	0.06365|0.06365	GCT|AGC		0.592	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
ITIH6	347365	broad.mit.edu	37	X	54784130	54784130	+	Nonsense_Mutation	SNP	G	G	A			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:54784130G>A	ENST00000218436.6	-	8	2406	c.2377C>T	c.(2377-2379)Caa>Taa	p.Q793*		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	793	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCCCCAAGTTGGGGGTGCGAT	0.552																																						uc004dtj.2																			0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(2377-2379)CAA>TAA		inter-alpha (globulin) inhibitor H5-like							113.0	96.0	102.0					X																	54784130		2203	4300	6503	SO:0001587	stop_gained	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784130G>A	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2377C>T	X.37:g.54784130G>A	ENSP00000218436:p.Gln793*						p.Q793*	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	2407	-			793			Pro-rich.		A6NN03	Nonsense_Mutation	SNP	ENST00000218436.6	37	c.2377C>T	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.860767	0.71834	.	.	ENSG00000102313	ENST00000218436	.	.	.	3.55	0.0885	0.14455	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	5.5289	0.16972	0.1144:0.0:0.5022:0.3834	.	.	.	.	X	793	.	ENSP00000218436:Q793X	Q	-	1	0	ITIH5L	54800855	0.016000	0.18221	0.006000	0.13384	0.245000	0.25701	0.565000	0.23578	0.356000	0.24157	0.462000	0.41574	CAA		0.552	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
PCDH11Y	83259	broad.mit.edu	37	Y	4966471	4966471	+	Silent	SNP	A	A	G			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrY:4966471A>G	ENST00000333703.4	+	5	1332	c.819A>G	c.(817-819)acA>acG	p.T273T	PCDH11Y_ENST00000362095.5_Silent_p.T284T|PCDH11Y_ENST00000215473.6_Silent_p.T284T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	284	Cadherin 2. {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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAGGAGACAGAGATTGAAG	0.428																																						uc004fqo.2																			0					0						c.(850-852)ACA>ACG		protocadherin 11 Y-linked isoform c																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4966471A>G	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.819A>G	Y.37:g.4966471A>G						PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T	p.T284T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	1586	+			284			Cadherin 3.|Extracellular (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.852A>G	CCDS14776.1																																																																																				0.428	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
