#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
PADI6	353238	broad.mit.edu	37	1	17708559	17708559	+	RNA	SNP	G	G	A	rs376937636	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:17708559G>A	ENST00000434762.2	+	0	701							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAAGAGTCGAAGAAGGCGA	0.522													G|||	4	0.000798722	0.0023	0.0	5008	,	,		18302	0.0		0.001	False		,,,				2504	0.0					uc001bak.1																			0				breast(1)	1						c.(649-651)TCG>TCA		peptidylarginine deiminase type 6	L-Citrulline(DB00155)	G		3,3983		0,3,1990	68.0	72.0	71.0		651	-6.4	0.0	1		71	1,8287		0,1,4143	no	coding-synonymous	PADI6	NM_207421.3		0,4,6133	AA,AG,GG		0.0121,0.0753,0.0326		217/695	17708559	4,12270	1993	4144	6137			353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17708559G>A	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708559G>A							p.S217S	NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	6	651	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	209					Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37	c.651G>A																																																																																					0.522	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
HP1BP3	50809	broad.mit.edu	37	1	21071371	21071371	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:21071371A>G	ENST00000312239.5	-	13	1720	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	HP1BP3_ENST00000375003.2_Silent_p.P375P|RP5-930J4.4_ENST00000413451.1_RNA	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	527	Lys-rich.				nucleosome assembly (GO:0006334)	nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTGGTTGCAGGCTTCTTTG	0.458																																						uc001bdw.1																			0				central_nervous_system(1)|skin(1)	2						c.(1579-1581)CCT>CCC		HP1-BP74							100.0	101.0	101.0					1																	21071371		2203	4300	6503	SO:0001819	synonymous_variant	50809				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:21071371A>G	BC053327	CCDS30621.1	1p36.12	2008-02-05			ENSG00000127483	ENSG00000127483			24973	protein-coding gene	gene with protein product						12477932	Standard	NM_016287		Approved	HP1-BP74	uc001bdw.1	Q5SSJ5	OTTHUMG00000002622	ENST00000312239.5:c.1581T>C	1.37:g.21071371A>G						HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc001bdy.1_Silent_p.P527P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P	p.P527P	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)	13	1721	-		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	527			Lys-rich.		A6NI71|A8K5D7|B3KMZ8|B4E210|Q05BI0|Q5SSJ6|Q5SWC6|Q6PIM9|Q8NDF0|Q9UHY0	Silent	SNP	ENST00000312239.5	37	c.1581T>C	CCDS30621.1																																																																																				0.458	HP1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007457.2	NM_016287	
TINAGL1	64129	broad.mit.edu	37	1	32050587	32050587	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:32050587C>T	ENST00000271064.7	+	7	883	c.807C>T	c.(805-807)ggC>ggT	p.G269G	TINAGL1_ENST00000457433.2_Silent_p.G238G|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	269					endosomal transport (GO:0016197)|immune response (GO:0006955)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type peptidase activity (GO:0008234)|extracellular matrix structural constituent (GO:0005201)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGCAGCAGGGCTGCCGCGGTG	0.627																																						uc001bta.2																			0					0						c.(805-807)GGC>GGT		tubulointerstitial nephritis antigen-like 1							56.0	59.0	58.0					1																	32050587		2203	4300	6503	SO:0001819	synonymous_variant	64129				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	g.chr1:32050587C>T	AB050716	CCDS343.1, CCDS55586.1, CCDS72745.1	1p34.3	2014-04-22	2005-08-18	2005-08-18	ENSG00000142910	ENSG00000142910			19168	protein-coding gene	gene with protein product			"""lipocalin 7"", ""TINAG-like 1"""	LCN7		11170462	Standard	NM_022164		Approved	P3ECSL, LIECG3, ARG1, TINAGRP	uc001bta.3	Q9GZM7	OTTHUMG00000003884	ENST00000271064.7:c.807C>T	1.37:g.32050587C>T						TINAGL1_uc001bsz.2_Silent_p.G124G|TINAGL1_uc010ogj.1_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G	p.G269G	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)	7	933	+		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)	269					A8K9Q5|B4DPK6|D3DPN8|Q8TEJ9|Q8WZ23|Q96GZ4|Q96JW3	Silent	SNP	ENST00000271064.7	37	c.807C>T	CCDS343.1																																																																																				0.627	TINAGL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011072.1	NM_022164	
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	rs375562160		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:67301382C>T	ENST00000371026.3	-	11	1715	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_ENST00000431318.1_Missense_Mutation_p.V300I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	554					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363																																						uc001dcx.2																			0				ovary(2)	2						c.(1660-1662)GTT>ATT		WD repeat domain 78 isoform 1		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	104.0	103.0	103.0		1660	4.4	1.0	1		103	0,8600		0,0,4300	no	missense	WDR78	NM_024763.4	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	554/849	67301382	1,13005	2203	4300	6503	SO:0001583	missense	79819							g.chr1:67301382C>T	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1660G>A	1.37:g.67301382C>T	ENSP00000360065:p.Val554Ile					WDR78_uc009waw.2_Missense_Mutation_p.V300I|WDR78_uc009wax.2_Intron	p.V554I	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN			11	1716	-			554			WD 1.		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1660G>A	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597193	0.66332	2.27E-4	0.0	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	T;T;T	0.67865	1.44;-0.29;-0.29	5.35	4.43	0.53597	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.162824	0.53938	D	0.000052	T	0.48114	0.1482	L	0.46157	1.445	0.41589	D	0.988782	P;P	0.40534	0.72;0.599	B;B	0.37833	0.259;0.133	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.4496	14.3454	0.66658	0.0:0.9272:0.0:0.0728	.	300;554	Q5VTH9-3;Q5VTH9	.;WDR78_HUMAN	I	554;300;320	ENSP00000360065:V554I;ENSP00000393182:V300I;ENSP00000433682:V320I	ENSP00000360065:V554I	V	-	1	0	WDR78	67073970	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	3.904000	0.56325	2.514000	0.84764	0.644000	0.83932	GTT		0.363	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763	
BARHL2	343472	broad.mit.edu	37	1	91182597	91182597	+	Silent	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:91182597A>G	ENST00000370445.4	-	1	197	c.156T>C	c.(154-156)tgT>tgC	p.C52C		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	52					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAATCTCCGAACAGGGAGATG	0.607																																					GBM(199;3561 4100 22440)	uc001dns.2																			0				ovary(1)	1						c.(154-156)TGT>TGC		BarH-like homeobox 2							75.0	83.0	80.0					1																	91182597		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182597A>G	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.156T>C	1.37:g.91182597A>G							p.C52C	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	198	-		all_lung(203;0.0263)|Lung SC(238;0.128)	52					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.156T>C	CCDS730.1																																																																																				0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
HSD3B1	3283	broad.mit.edu	37	1	120056674	120056674	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:120056674C>T	ENST00000369413.3	+	4	673	c.528C>T	c.(526-528)aaC>aaT	p.N176N	HSD3B1_ENST00000235547.6_Silent_p.N178N|HSD3B1_ENST00000528909.1_Silent_p.N176N			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	176					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	ATCTGAAAAACGGCGGCACCC	0.507																																						uc001ehv.1																			0				ovary(2)	2						c.(526-528)AAC>AAT		3 beta-hydroxysteroid dehydrogenase 1	NADH(DB00157)|Trilostane(DB01108)						72.0	72.0	72.0					1																	120056674		2203	4300	6503	SO:0001819	synonymous_variant	3283				androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	g.chr1:120056674C>T	S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	5217	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 1"""	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.528C>T	1.37:g.120056674C>T						HSD3B1_uc001ehw.2_Silent_p.N178N	p.N176N	NM_000862	NP_000853	P14060	3BHS1_HUMAN		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	4	673	+	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)	176					A8K691|Q14545|Q8IV65	Silent	SNP	ENST00000369413.3	37	c.528C>T	CCDS903.1																																																																																				0.507	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034993.3	NM_000862	
PDE4DIP	9659	broad.mit.edu	37	1	144859794	144859794	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859794C>G	ENST00000369354.3	-	38	6479	c.6290G>C	c.(6289-6291)aGc>aCc	p.S2097T	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1991T|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S2233T|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S2182T|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S2097T			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2097					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCAGTGCTGGCTGGGAA	0.577			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6289-6291)AGC>ACC		phosphodiesterase 4D interacting protein isoform							66.0	64.0	65.0					1																	144859794		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859794C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6290G>C	1.37:g.144859794C>G	ENSP00000358360:p.Ser2097Thr					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.3_Missense_Mutation_p.S1104T	p.S2097T	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6581	-			2097					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6290G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348436	0.11126	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01685	4.69;4.77;4.77;4.79;4.77	3.79	-5.38	0.02673	.	.	.	.	.	T	0.00440	0.0014	L	0.34521	1.04	0.09310	N	0.999996	B;B	0.23316	0.001;0.083	B;B	0.16722	0.002;0.016	T	0.46205	-0.9208	9	0.44086	T	0.13	.	2.2809	0.04114	0.1203:0.3781:0.1329:0.3687	.	1991;2097	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	T	1991;2097;2097;2182;2233	ENSP00000327209:S1991T;ENSP00000358360:S2097T;ENSP00000358363:S2097T;ENSP00000435654:S2182T;ENSP00000358366:S2233T	ENSP00000327209:S1991T	S	-	2	0	PDE4DIP	143571151	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.228000	0.00549	-0.951000	0.03654	-0.884000	0.02946	AGC		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	broad.mit.edu	37	1	144859988	144859988	+	Silent	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859988C>G	ENST00000369354.3	-	38	6285	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.L1926L|PDE4DIP_ENST00000369359.4_Silent_p.L2168L|PDE4DIP_ENST00000530740.1_Silent_p.L2117L|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369356.4_Silent_p.L2032L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2032					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGGCATCCAGGCTGTAAG	0.527			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(6094-6096)CTG>CTC		phosphodiesterase 4D interacting protein isoform							116.0	111.0	113.0					1																	144859988		2203	4296	6499	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144859988C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6096G>C	1.37:g.144859988C>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1926L|PDE4DIP_uc001elv.3_Silent_p.L1039L	p.L2032L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	38	6387	-			2032			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.6096G>C	CCDS30824.1																																																																																				0.527	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
ADAMTSL4	54507	broad.mit.edu	37	1	150530495	150530495	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:150530495G>A	ENST00000369038.2	+	12	2453	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.R774Q|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.R751Q|ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.R751Q			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	751	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCAGTGCCGGCAGGAATTT	0.706																																						uc001eux.2																			0				ovary(1)|skin(1)	2						c.(2251-2253)CGG>CAG		thrombospondin repeat containing 1 isoform 1							36.0	42.0	40.0					1																	150530495		2112	4160	6272	SO:0001583	missense	54507				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding	g.chr1:150530495G>A	BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2252G>A	1.37:g.150530495G>A	ENSP00000358034:p.Arg751Gln					ADAMTSL4_uc001euw.2_Missense_Mutation_p.R751Q|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.R774Q|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.2_5'UTR	p.R751Q	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		14	2488	+	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		751			TSP type-1 2.		B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	ENST00000369038.2	37	c.2252G>A	CCDS955.1	.	.	.	.	.	.	.	.	.	.	G	35	5.463726	0.96257	.	.	ENSG00000143382	ENST00000369041;ENST00000271643;ENST00000407995;ENST00000369039;ENST00000369038	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.92	5.92	0.95590	.	.	.	.	.	T	0.58308	0.2113	L	0.52011	1.625	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.953;0.974;0.953;0.998	T	0.56475	-0.7973	9	0.54805	T	0.06	.	17.8145	0.88627	0.0:0.0:1.0:0.0	.	712;774;751;751	B7ZMJ3;F8WAD0;Q6UY14;Q6UY14-2	.;.;ATL4_HUMAN;.	Q	751;751;289;774;751	ENSP00000358037:R751Q;ENSP00000271643:R751Q;ENSP00000358035:R774Q;ENSP00000358034:R751Q	ENSP00000271643:R751Q	R	+	2	0	ADAMTSL4	148797119	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	9.282000	0.95840	2.813000	0.96785	0.561000	0.74099	CGG		0.706	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084395.4	NM_019032	
FCGR3A	2214	broad.mit.edu	37	1	161518335	161518335	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:161518335G>A	ENST00000436743.1	-	4	349	c.195C>T	c.(193-195)agC>agT	p.S65S	FCGR3A_ENST00000367969.3_Silent_p.S101S|FCGR3A_ENST00000540048.1_Silent_p.S65S|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000443193.1_Silent_p.S100S|FCGR3A_ENST00000476031.1_5'UTR	NM_001127593.1|NM_001127595.1|NM_001127596.1	NP_001121065.1|NP_001121067.1|NP_001121068.1	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	65	Ig-like C2-type 1.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGAGATGAGGCTCTCATTGT	0.552																																						uc001gat.3																			0				ovary(1)	1						c.(193-195)AGC>AGT		Fc fragment of IgG, low affinity IIIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						304.0	294.0	298.0					1																	161518335		2203	4300	6503	SO:0001819	synonymous_variant	2214				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161518335G>A	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000436743.1:c.195C>T	1.37:g.161518335G>A						FCGR3A_uc001gar.2_Silent_p.S101S|FCGR3A_uc001gas.2_Silent_p.S100S|FCGR3A_uc009wuh.2_Silent_p.S64S|FCGR3A_uc009wui.2_Silent_p.S65S	p.S65S	NM_001127595	NP_001121067	P08637	FCG3A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		4	332	-	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		65			Ig-like C2-type 1.|Extracellular (Potential).		A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000436743.1	37	c.195C>T	CCDS44266.1	.	.	.	.	.	.	.	.	.	.	G	4.310	0.056905	0.08339	.	.	ENSG00000203747	ENST00000426740	.	.	.	4.43	0.132	0.14762	.	.	.	.	.	T	0.07458	0.0188	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34079	-0.9843	4	.	.	.	.	1.0832	0.01647	0.2139:0.1737:0.4337:0.1787	.	.	.	.	V	82	.	.	A	-	2	0	FCGR3A	159784959	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.663000	0.05299	0.156000	0.19299	-0.226000	0.12346	GCC		0.552	FCGR3A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102169.2	NM_000569	
GORAB	92344	broad.mit.edu	37	1	170521169	170521169	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:170521169A>G	ENST00000367763.3	+	5	771	c.751A>G	c.(751-753)Agg>Ggg	p.R251G		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	251	Necessary for interaction with RCHY1.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGTTTGACAGGGCTGAAGC	0.398																																						uc001gha.2																			0					0						c.(751-753)AGG>GGG		golgin, RAB6-interacting isoform a							112.0	114.0	114.0					1																	170521169		2203	4300	6503	SO:0001583	missense	92344					Golgi apparatus|nucleus		g.chr1:170521169A>G	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228	ENST00000367763.3:c.751A>G	1.37:g.170521169A>G	ENSP00000356737:p.Arg251Gly					GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G	p.R251G	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN			5	778	+			251			Necessary for interaction with RCHY1.|Potential.		Q49A22|Q6P1P9|Q9HAE6|Q9Y350	Missense_Mutation	SNP	ENST00000367763.3	37	c.751A>G	CCDS1289.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864576	0.71949	.	.	ENSG00000120370	ENST00000367763	T	0.63580	-0.05	5.6	5.6	0.85130	.	0.290840	0.41396	D	0.000898	T	0.48732	0.1516	M	0.62723	1.935	0.80722	D	1	P	0.41848	0.763	B	0.36608	0.229	T	0.61013	-0.7148	10	0.72032	D	0.01	-23.6268	15.5031	0.75716	1.0:0.0:0.0:0.0	.	251	Q5T7V8	GORAB_HUMAN	G	251	ENSP00000356737:R251G	ENSP00000356737:R251G	R	+	1	2	GORAB	168787793	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	8.884000	0.92432	2.144000	0.66660	0.529000	0.55759	AGG		0.398	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281	
PAPPA2	60676	broad.mit.edu	37	1	176563936	176563936	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:176563936T>C	ENST00000367662.3	+	3	2360	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	PAPPA2_ENST00000367661.3_Missense_Mutation_p.F399S	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	399					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AACAGCCCCTTCATGGCATCT	0.592																																						uc001gkz.2																			0				ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1195-1197)TTC>TCC		pappalysin 2 isoform 1							93.0	93.0	93.0					1																	176563936		2038	4190	6228	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176563936T>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1196T>C	1.37:g.176563936T>C	ENSP00000356634:p.Phe399Ser					PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.2_RNA	p.F399S	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2360	+			399					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.1196T>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.096892	0.56075	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.32515	4.67;1.45	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, subdomain 2 (1);	0.106709	0.64402	D	0.000004	T	0.49253	0.1546	M	0.68593	2.085	0.39792	D	0.972445	B;D	0.71674	0.392;0.998	B;D	0.68039	0.374;0.955	T	0.51148	-0.8742	10	0.42905	T	0.14	-22.0804	10.4272	0.44385	0.1457:0.0:0.0:0.8543	.	399;399	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	S	399	ENSP00000356634:F399S;ENSP00000356633:F399S	ENSP00000356633:F399S	F	+	2	0	PAPPA2	174830559	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.917000	0.56424	2.063000	0.61619	0.524000	0.50904	TTC		0.592	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
ANGPTL1	9068	broad.mit.edu	37	1	178822880	178822880	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:178822880G>A	ENST00000234816.2	-	4	1313	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.S289L	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	289	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCCACTGACCGAATGCCCAGC	0.373																																						uc001gma.2																			0					0						c.(865-867)TCG>TTG		angiopoietin-like 1 precursor							102.0	97.0	98.0					1																	178822880		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178822880G>A	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.866C>T	1.37:g.178822880G>A	ENSP00000234816:p.Ser289Leu					RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L	p.S289L	NM_004673	NP_004664	O95841	ANGL1_HUMAN			4	1342	-			289			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.866C>T	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037547	0.75617	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.77098	-1.07;-1.07	6.16	6.16	0.99307	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.320888	0.33712	N	0.004639	T	0.76321	0.3971	L	0.39898	1.24	0.49299	D	0.999777	P	0.41345	0.746	B	0.43658	0.426	T	0.71852	-0.4467	10	0.30078	T	0.28	.	20.4549	0.99139	0.0:0.0:1.0:0.0	.	289	O95841	ANGL1_HUMAN	L	289;289;253	ENSP00000234816:S289L;ENSP00000356601:S289L	ENSP00000234816:S289L	S	-	2	0	ANGPTL1	177089503	1.000000	0.71417	0.987000	0.45799	0.995000	0.86356	4.793000	0.62474	2.937000	0.99478	0.650000	0.86243	TCG		0.373	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673	
KIAA1614	57710	broad.mit.edu	37	1	180914469	180914469	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:180914469C>T	ENST00000367588.4	+	9	3373	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	KIAA1614_ENST00000367587.1_Silent_p.L727L|KIAA1614_ENST00000461346.1_3'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGTGCCCTCAGTGTGGAGG	0.662																																						uc001gok.2																			0				ovary(3)|skin(1)	4						c.(3316-3318)CTC>CTT		hypothetical protein LOC57710							51.0	57.0	55.0					1																	180914469		2074	4181	6255	SO:0001819	synonymous_variant	57710							g.chr1:180914469C>T	AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3318C>T	1.37:g.180914469C>T						KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_RNA	p.L1106L	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN			9	3385	+			1106					Q5VZ45|Q9HCF8	Silent	SNP	ENST00000367588.4	37	c.3318C>T	CCDS41442.1																																																																																				0.662	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
LAMB3	3914	broad.mit.edu	37	1	209796522	209796522	+	Silent	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:209796522G>T	ENST00000356082.4	-	17	2495	c.2361C>A	c.(2359-2361)ctC>ctA	p.L787L	LAMB3_ENST00000367030.3_Silent_p.L787L|LAMB3_ENST00000391911.1_Silent_p.L787L|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	787	Domain alpha.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTTGCCACAGAGCTGTGGAC	0.572																																						uc001hhg.2																			0				central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1)	6						c.(2359-2361)CTC>CTA		laminin, beta 3 precursor							46.0	49.0	48.0					1																	209796522		2203	4300	6503	SO:0001819	synonymous_variant	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209796522G>T	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.2361C>A	1.37:g.209796522G>T						LAMB3_uc009xco.2_Silent_p.L787L|LAMB3_uc001hhh.2_Silent_p.L787L|LAMB3_uc010psl.1_RNA	p.L787L	NM_001017402	NP_001017402	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	16	2751	-			787			Domain alpha.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	ENST00000356082.4	37	c.2361C>A	CCDS1487.1																																																																																				0.572	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TRIM58	25893	broad.mit.edu	37	1	248039229	248039229	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:248039229C>T	ENST00000366481.3	+	6	947	c.899C>T	c.(898-900)gCg>gTg	p.A300V	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	300	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGCCACGGCGCACCCGAGT	0.552																																						uc001ido.2																			0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(898-900)GCG>GTG		tripartite motif-containing 58							62.0	60.0	61.0					1																	248039229		2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248039229C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.899C>T	1.37:g.248039229C>T	ENSP00000355437:p.Ala300Val					OR2W3_uc001idp.1_5'UTR	p.A300V	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		6	947	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	300			B30.2/SPRY.		Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.899C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056178	0.55325	.	.	ENSG00000162722	ENST00000366481	T	0.37915	1.17	3.95	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.56097	D	0.000026	T	0.57975	0.2090	M	0.76938	2.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62840	-0.6769	10	0.72032	D	0.01	.	11.2344	0.48931	0.1846:0.8154:0.0:0.0	.	300	Q8NG06	TRI58_HUMAN	V	300	ENSP00000355437:A300V	ENSP00000355437:A300V	A	+	2	0	TRIM58	246105852	0.995000	0.38212	0.197000	0.23402	0.100000	0.18952	3.349000	0.52217	1.250000	0.43966	0.650000	0.86243	GCG		0.552	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431	
PTEN	5728	broad.mit.edu	37	10	89692893	89692893	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:89692893C>T	ENST00000371953.3	+	5	1734	c.377C>T	c.(376-378)gCt>gTt	p.A126V		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	126	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A126D(3)|p.A126V(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		56	Whole gene deletion(37)|Deletion - Frameshift(8)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.A126T(5)|p.R55fs*1(4)|p.A126D(3)|p.?(2)|p.Y27fs*1(2)|p.A126P(2)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.A126V(1)|p.A126S(1)|p.F56fs*2(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|endometrium(3)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(376-378)GCT>GTT		phosphatase and tensin homolog							141.0	130.0	133.0					10																	89692893		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692893C>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.377C>T	10.37:g.89692893C>T	ENSP00000361021:p.Ala126Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.A126V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1408	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	126			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.377C>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	35	5.424416	0.96111	.	.	ENSG00000171862	ENST00000371953	D	0.99158	-5.5	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.98612	4.28	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97426	1.0012	9	.	.	.	-8.4283	18.7776	0.91918	0.0:1.0:0.0:0.0	.	126	P60484	PTEN_HUMAN	V	126	ENSP00000361021:A126V	.	A	+	2	0	PTEN	89682873	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.452000	0.80683	2.411000	0.81874	0.655000	0.94253	GCT		0.408	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
Unknown	0	broad.mit.edu	37	10	135491165	135491165	+	IGR	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:135491165C>T								AL845259.1 (17986 upstream) : None (None downstream)																							GTGCCCTGCGCGCCTGGGGCT	0.771																																						uc010qvi.1																			0					0						c.(775-777)GCG>GTG		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491165C>T																													10.37:g.135491165C>T							p.A259V	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	887	+			259						Missense_Mutation	SNP		37	c.776C>T																																																																																				0	0.771								
PDE3B	5140	broad.mit.edu	37	11	14839801	14839801	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:14839801G>A	ENST00000282096.4	+	6	1948	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	PDE3B_ENST00000455098.2_Missense_Mutation_p.R481Q	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	532					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)	p.R532Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CTAACTAATCGATCACCCATA	0.388																																						uc001mln.2																			1	Substitution - Missense(1)		endometrium(1)		0						c.(1594-1596)CGA>CAA		phosphodiesterase 3B							70.0	64.0	66.0					11																	14839801		2200	4294	6494	SO:0001583	missense	5140				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	g.chr11:14839801G>A	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1595G>A	11.37:g.14839801G>A	ENSP00000282096:p.Arg532Gln					PDE3B_uc010rcr.1_Missense_Mutation_p.R481Q	p.R532Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN			6	1948	+			532					B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	ENST00000282096.4	37	c.1595G>A	CCDS7817.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.799204	0.31869	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.32988	1.43;1.43	5.42	2.38	0.29361	.	5.610350	0.00166	N	0.000001	T	0.32971	0.0847	M	0.63843	1.955	0.32803	D	0.500355	B;B	0.23735	0.09;0.09	B;B	0.13407	0.009;0.009	T	0.38457	-0.9660	10	0.12430	T	0.62	.	10.187	0.43004	0.2304:0.0:0.7696:0.0	.	481;532	B7ZM37;Q13370	.;PDE3B_HUMAN	Q	532;481	ENSP00000282096:R532Q;ENSP00000388644:R481Q	ENSP00000282096:R532Q	R	+	2	0	PDE3B	14796377	1.000000	0.71417	0.933000	0.37362	0.494000	0.33585	2.726000	0.47302	0.600000	0.29862	0.305000	0.20034	CGA		0.388	PDE3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386974.1	NM_000922	
OR5T3	390154	broad.mit.edu	37	11	56020021	56020021	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:56020021C>T	ENST00000303059.3	+	1	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGTCAATTTCCTGGCAAAAAA	0.368																																						uc010rjd.1																			0					0						c.(346-348)CTG>TTG		olfactory receptor, family 5, subfamily T,							136.0	137.0	136.0					11																	56020021		2201	4296	6497	SO:0001819	synonymous_variant	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020021C>T	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.346C>T	11.37:g.56020021C>T							p.L116L	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	346	+	Esophageal squamous(21;0.00448)		116			Extracellular (Potential).		Q6IFC7	Silent	SNP	ENST00000303059.3	37	c.346C>T	CCDS31524.1																																																																																				0.368	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747	
SHANK2	22941	broad.mit.edu	37	11	70319235	70319235	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:70319235C>T	ENST00000423696.2	-	16	4188	c.4152G>A	c.(4150-4152)tcG>tcA	p.S1384S	SHANK2_ENST00000409161.1_Silent_p.S1167S|SHANK2_ENST00000449833.2_Silent_p.S1168S|SHANK2_ENST00000338508.4_Silent_p.S1764S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1384					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGGGATGGCGACCTACTGC	0.537																																						uc001oqc.2																			0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(5287-5289)TCG>TCA		SH3 and multiple ankyrin repeat domains 2							95.0	99.0	97.0					11																	70319235		2200	4294	6494	SO:0001819	synonymous_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70319235C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.4152G>A	11.37:g.70319235C>T						SHANK2_uc010rqn.1_Silent_p.S1175S|SHANK2_uc001opz.2_Silent_p.S1168S|uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.2_Silent_p.S99S	p.S1763S	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		22	5367	-			1384					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.5289G>A																																																																																					0.537	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309	
KRTAP5-10	387273	broad.mit.edu	37	11	71276821	71276910	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	rs71473841|rs12289712|rs12788123|rs34154361|rs528994893|rs111331435|rs145089413|rs12793134|rs200707146|rs113426209|rs12792973|rs561795826|rs146095815|rs71272260|rs201070584|rs12787188|rs111692708|rs201034939	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	ENST00000398531.1	+	1	213_302	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc	p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del	KRTAP5-10_ENST00000376536.4_Splice_Site_p.CGSCGGSKGDC64del	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	64	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G69C(1)|p.K81K(1)|p.G65S(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC	0.676																																						uc001oqt.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	p.G65S(1)	lung(1)|endometrium(1)|skin(1)	skin(1)	1						c.(187-279)AGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGC>AGC		keratin associated protein 5-10																																				SO:0001651	inframe_deletion	387273					keratin filament		g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	11.37:g.71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	ENSP00000381542:p.Cys64_Gly93del						p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del	NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN			1	213_302	+			64_93			7 X 4 AA repeats of C-C-X-P.		B9EHA4	In_Frame_Del	DEL	ENST00000398531.1	37	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	CCDS41684.1																																																																																				0.676	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2		
SLCO2B1	11309	broad.mit.edu	37	11	74876887	74876887	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:74876887G>A	ENST00000289575.5	+	4	736	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SLCO2B1_ENST00000531756.1_Intron|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.R92Q|SLCO2B1_ENST00000341411.4_5'UTR|SLCO2B1_ENST00000532236.1_5'UTR|SLCO2B1_ENST00000454962.2_5'UTR|SLCO2B1_ENST00000525650.1_Intron|SLCO2B1_ENST00000526660.1_Intron	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	114					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CGGGTGCACCGACCCCGAATG	0.572																																						uc001owb.2																			0				ovary(1)|breast(1)	2						c.(340-342)CGA>CAA		solute carrier organic anion transporter family,	Ergoloid mesylate(DB01049)						162.0	151.0	155.0					11																	74876887		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74876887G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.341G>A	11.37:g.74876887G>A	ENSP00000289575:p.Arg114Gln					SLCO2B1_uc010rrq.1_Intron|SLCO2B1_uc010rrr.1_Intron|SLCO2B1_uc010rrs.1_5'UTR|SLCO2B1_uc001owc.2_5'UTR|SLCO2B1_uc001owd.2_Missense_Mutation_p.R92Q	p.R114Q	NM_007256	NP_009187	O94956	SO2B1_HUMAN			4	728	+			114			Cytoplasmic (Potential).		A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.341G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233605	0.79688	.	.	ENSG00000137491	ENST00000289575;ENST00000527180;ENST00000534186;ENST00000428359	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	4.24	4.24	0.50183	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.64402	D	0.000002	T	0.78978	0.4369	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85364	0.1109	9	.	.	.	.	14.1582	0.65430	0.0:0.0:1.0:0.0	.	114	O94956	SO2B1_HUMAN	Q	114;92;92;92	ENSP00000289575:R114Q;ENSP00000436513:R92Q;ENSP00000433872:R92Q;ENSP00000388912:R92Q	.	R	+	2	0	SLCO2B1	74554535	1.000000	0.71417	0.984000	0.44739	0.376000	0.30014	8.806000	0.91930	2.180000	0.69256	0.563000	0.77884	CGA		0.572	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
DRD2	1813	broad.mit.edu	37	11	113286210	113286210	+	Missense_Mutation	SNP	C	C	T	rs200148328		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:113286210C>T	ENST00000362072.3	-	5	1000	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DRD2_ENST00000355319.2_Missense_Mutation_p.R219H|DRD2_ENST00000538967.1_Missense_Mutation_p.R219H|DRD2_ENST00000346454.3_Missense_Mutation_p.R219H|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.R219H|DRD2_ENST00000544518.1_Missense_Mutation_p.R218H	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	219	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGCTTGCGGCGTCTGCGGAG	0.572																																						uc001pnz.2																			0				pancreas(1)|skin(1)	2						c.(655-657)CGC>CAC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						170.0	149.0	156.0					11																	113286210		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113286210C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.656G>A	11.37:g.113286210C>T	ENSP00000354859:p.Arg219His					DRD2_uc010rwv.1_Missense_Mutation_p.R218H|DRD2_uc001poa.3_Missense_Mutation_p.R219H|DRD2_uc001pob.3_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H	p.R219H	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	4	977	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	219			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.656G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717168	0.96839	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.093417	0.85682	D	0.000000	T	0.62478	0.2431	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.997;0.999	T	0.62760	-0.6786	10	0.59425	D	0.04	.	19.7629	0.96329	0.0:1.0:0.0:0.0	.	218;219;219;219	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	H	219;219;219;218;219;219	ENSP00000347474:R219H;ENSP00000278597:R219H;ENSP00000354859:R219H;ENSP00000441068:R218H;ENSP00000442172:R219H;ENSP00000438215:R219H	ENSP00000278597:R219H	R	-	2	0	DRD2	112791420	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.666000	0.90696	0.561000	0.74099	CGC		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
GDF3	9573	broad.mit.edu	37	12	7842975	7842975	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:7842975G>A	ENST00000329913.3	-	2	641	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	198					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473																																						uc001qte.2																			0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(592-594)TTC>TTT		growth differentiation factor 3 precursor							67.0	72.0	70.0					12																	7842975		2203	4300	6503	SO:0001819	synonymous_variant	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7842975G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.594C>T	12.37:g.7842975G>A							p.F198F	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	630	-			198					Q8NEJ4	Silent	SNP	ENST00000329913.3	37	c.594C>T	CCDS8581.1																																																																																				0.473	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1		
ERP27	121506	broad.mit.edu	37	12	15070213	15070213	+	Missense_Mutation	SNP	C	C	T	rs139573344		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:15070213C>T	ENST00000266397.2	-	5	1048	c.475G>A	c.(475-477)Gta>Ata	p.V159I	ERP27_ENST00000540097.1_Missense_Mutation_p.V58I|ERP27_ENST00000544881.1_5'UTR	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27	159						endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATCTGAATTACGCTGTTGAAT	0.453													c|||	1	0.000199681	0.0	0.0	5008	,	,		21778	0.001		0.0	False		,,,				2504	0.0					uc001rco.2																			0				breast(1)	1						c.(475-477)GTA>ATA		endoplasmic reticulum protein 27 kDa precursor		T	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	206.0	183.0	190.0		475	-6.2	0.0	12	dbSNP_134	190	1,8599	1.2+/-3.3	0,1,4299	no	missense	ERP27	NM_152321.2	29	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	159/274	15070213	3,13003	2203	4300	6503	SO:0001583	missense	121506					endoplasmic reticulum lumen		g.chr12:15070213C>T	AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.475G>A	12.37:g.15070213C>T	ENSP00000266397:p.Val159Ile						p.V159I	NM_152321	NP_689534	Q96DN0	ERP27_HUMAN			5	496	-			159						Missense_Mutation	SNP	ENST00000266397.2	37	c.475G>A	CCDS8670.1	.	.	.	.	.	.	.	.	.	.	c	6.178	0.400978	0.11696	4.54E-4	1.16E-4	ENSG00000139055	ENST00000266397;ENST00000540097	T;T	0.13538	2.58;2.58	5.63	-6.17	0.02091	Thioredoxin-like fold (1);	1.090810	0.06810	N	0.790219	T	0.03434	0.0099	N	0.02011	-0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.36792	-0.9733	10	0.37606	T	0.19	2.5955	0.3273	0.00313	0.2071:0.1894:0.2244:0.3791	.	159	Q96DN0	ERP27_HUMAN	I	159;58	ENSP00000266397:V159I;ENSP00000440573:V58I	ENSP00000266397:V159I	V	-	1	0	ERP27	14961480	0.000000	0.05858	0.003000	0.11579	0.007000	0.05969	-0.928000	0.03980	-0.795000	0.04462	-1.290000	0.01357	GTA		0.453	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400868.1	NM_152321	
CPSF6	11052	broad.mit.edu	37	12	69645041	69645041	+	Missense_Mutation	SNP	G	G	C	rs370987967		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:69645041G>C	ENST00000435070.2	+	2	303	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000550987.1_3'UTR|CPSF6_ENST00000456847.3_Missense_Mutation_p.G65R|CPSF6_ENST00000266679.8_Missense_Mutation_p.G65R	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	65					mRNA polyadenylation (GO:0006378)|mRNA processing (GO:0006397)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGATGATGTGGGTAAAGGAGC	0.378																																						uc001sut.3																			0					0						c.(193-195)GGT>CGT		cleavage and polyadenylation specific factor 6,							82.0	72.0	75.0					12																	69645041		2203	4300	6503	SO:0001583	missense	11052				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr12:69645041G>C	X67336	CCDS8988.1, CCDS73494.1	12q15	2013-06-18	2002-08-29			ENSG00000111605		"""RNA binding motif (RRM) containing"""	13871	protein-coding gene	gene with protein product	"""cleavage factor Im complex 68 kDa subunit"""	604979	"""cleavage and polyadenylation specific factor 6, 68kD subunit"""			9659921, 17267687	Standard	NM_007007		Approved	CFIM, HPBRII-4, HPBRII-7, CFIM68	uc001sut.4	Q16630		ENST00000435070.2:c.193G>C	12.37:g.69645041G>C	ENSP00000391774:p.Gly65Arg					CPSF6_uc001suu.3_Missense_Mutation_p.G65R	p.G65R	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)		2	303	+	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		65					A8K7K9|Q53ES1|Q9BSJ7|Q9BW18	Missense_Mutation	SNP	ENST00000435070.2	37	c.193G>C	CCDS8988.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202290	0.79127	.	.	ENSG00000111605	ENST00000435070;ENST00000456847;ENST00000266679	.	.	.	4.73	4.73	0.59995	.	0.152104	0.64402	D	0.000017	T	0.56232	0.1971	L	0.29908	0.895	0.80722	D	1	P;P	0.48016	0.904;0.498	P;B	0.49887	0.625;0.265	T	0.53005	-0.8499	8	.	.	.	-10.0663	18.5948	0.91226	0.0:0.0:1.0:0.0	.	65;65	Q16630-2;Q16630	.;CPSF6_HUMAN	R	65	.	.	G	+	1	0	CPSF6	67931308	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.239000	0.72356	2.558000	0.86282	0.563000	0.77884	GGT		0.378	CPSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403609.1	NM_007007	
KIAA1033	23325	broad.mit.edu	37	12	105514968	105514968	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:105514968G>T	ENST00000332180.5	+	9	738	c.651G>T	c.(649-651)tgG>tgT	p.W217C		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGACCACTGGACTATGTACA	0.299																																						uc001tld.2																			0				kidney(1)|central_nervous_system(1)	2						c.(649-651)TGG>TGT		hypothetical protein LOC23325							96.0	87.0	90.0					12																	105514968		1822	4068	5890	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105514968G>T	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.651G>T	12.37:g.105514968G>T	ENSP00000328062:p.Trp217Cys					KIAA1033_uc010swr.1_Missense_Mutation_p.W217C|KIAA1033_uc010sws.1_Missense_Mutation_p.W29C	p.W217C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			9	738	+			217						Missense_Mutation	SNP	ENST00000332180.5	37	c.651G>T	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351595	0.82132	.	.	ENSG00000136051	ENST00000332180	T	0.55588	0.51	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.76601	0.4010	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.79203	-0.1900	10	0.87932	D	0	.	19.8611	0.96785	0.0:0.0:1.0:0.0	.	217;217	B7ZKT9;Q2M389	.;WASH7_HUMAN	C	217	ENSP00000328062:W217C	ENSP00000328062:W217C	W	+	3	0	KIAA1033	104039098	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.605000	0.98321	2.687000	0.91594	0.585000	0.79938	TGG		0.299	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
WSCD2	9671	broad.mit.edu	37	12	108603905	108603905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:108603905C>A	ENST00000332082.4	+	5	1323	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	WSCD2_ENST00000261400.3_Missense_Mutation_p.L169M|WSCD2_ENST00000549903.1_Missense_Mutation_p.L169M|WSCD2_ENST00000547525.1_Missense_Mutation_p.L169M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	169	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGGGGTTACCTGTATGGCGG	0.647																																						uc001tms.2																			0				ovary(1)|large_intestine(1)|breast(1)	3						c.(505-507)CTG>ATG		WSC domain containing 2							28.0	31.0	30.0					12																	108603905		2123	4235	6358	SO:0001583	missense	9671					integral to membrane		g.chr12:108603905C>A		CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.505C>A	12.37:g.108603905C>A	ENSP00000331933:p.Leu169Met					WSCD2_uc001tmt.2_Missense_Mutation_p.L169M	p.L169M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN			4	1249	+			169			WSC 1.		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	c.505C>A	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801068	0.31869	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000551638;ENST00000332082;ENST00000549903	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.22	3.4	0.38934	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.125962	0.53938	D	0.000055	T	0.35941	0.0949	N	0.25789	0.76	0.50467	D	0.999876	B	0.27791	0.189	B	0.31614	0.133	T	0.09596	-1.0667	10	0.33141	T	0.24	-18.2936	5.7063	0.17911	0.1556:0.6795:0.0:0.1649	.	169	Q2TBF2	WSCD2_HUMAN	M	169;169;16;169;169	ENSP00000448047:L169M;ENSP00000261400:L169M;ENSP00000446744:L16M;ENSP00000331933:L169M;ENSP00000447272:L169M	ENSP00000261400:L169M	L	+	1	2	WSCD2	107128035	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.107000	0.31110	0.598000	0.29829	0.555000	0.69702	CTG		0.647	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
TMEM132D	121256	broad.mit.edu	37	12	129563144	129563144	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:129563144G>A	ENST00000422113.2	-	8	2376	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.P222S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	684					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.P684A(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGCTTCCTGGGCTGAGCTGC	0.577																																						uc009zyl.1																			1	Substitution - Missense(1)		skin(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2050-2052)CCA>TCA		transmembrane protein 132D precursor							139.0	118.0	125.0					12																	129563144		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563144G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2050C>T	12.37:g.129563144G>A	ENSP00000408581:p.Pro684Ser					TMEM132D_uc001uia.2_Missense_Mutation_p.P222S	p.P684S	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2378	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	684			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2050C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198550	0.38806	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.22743	1.94;1.94	4.79	2.79	0.32731	.	0.066392	0.64402	D	0.000017	T	0.28134	0.0694	L	0.37507	1.11	0.50039	D	0.999843	B;D	0.57899	0.25;0.981	B;P	0.57324	0.082;0.818	T	0.01516	-1.1335	9	.	.	.	-16.009	12.8823	0.58024	0.0:0.0:0.7042:0.2958	.	684;222	Q14C87;Q14C87-2	T132D_HUMAN;.	S	222;684	ENSP00000374092:P222S;ENSP00000408581:P684S	.	P	-	1	0	TMEM132D	128129097	1.000000	0.71417	0.945000	0.38365	0.870000	0.49936	0.883000	0.28200	0.966000	0.38159	0.563000	0.77884	CCA		0.577	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
ANKLE2	23141	broad.mit.edu	37	12	133306704	133306704	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:133306704C>G	ENST00000357997.5	-	11	2133	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ANKLE2_ENST00000539605.1_Missense_Mutation_p.E620Q|ANKLE2_ENST00000542657.1_Missense_Mutation_p.E37Q|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Missense_Mutation_p.E37Q	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	682					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGTCTGCCTCCTGCTCCAAG	0.572																																						uc001ukx.2																			0					0						c.(2044-2046)GAG>CAG		ankyrin repeat and LEM domain containing 2							59.0	64.0	62.0					12																	133306704		1964	4141	6105	SO:0001583	missense	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306704C>G	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2044G>C	12.37:g.133306704C>G	ENSP00000350686:p.Glu682Gln					ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q	p.E682Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	2111	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	682					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	ENST00000357997.5	37	c.2044G>C	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.068924	0.36470	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	T;T;T;T;T	0.44482	1.93;1.92;0.92;0.92;0.92	5.76	-0.826	0.10805	.	0.901448	0.09973	N	0.732044	T	0.14917	0.0360	N	0.08118	0	0.20489	N	0.999891	B	0.32731	0.382	B	0.21708	0.036	T	0.17289	-1.0374	10	0.15952	T	0.53	-6.9432	2.9848	0.05964	0.1148:0.3653:0.1183:0.4016	.	682	Q86XL3	ANKL2_HUMAN	Q	620;682;37;37;37	ENSP00000446268:E620Q;ENSP00000350686:E682Q;ENSP00000437807:E37Q;ENSP00000438551:E37Q;ENSP00000445760:E37Q	ENSP00000350686:E682Q	E	-	1	0	ANKLE2	131816777	0.020000	0.18652	0.343000	0.25615	0.125000	0.20455	0.443000	0.21644	-0.293000	0.08986	-0.310000	0.09108	GAG		0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1		
SLC39A2	29986	broad.mit.edu	37	14	21469493	21469493	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr14:21469493C>T	ENST00000298681.4	+	4	842	c.685C>T	c.(685-687)Cta>Tta	p.L229L	SLC39A2_ENST00000554422.1_3'UTR|RP11-84C10.4_ENST00000557335.1_RNA	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	229					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTCTCCATACTATTATTAGC	0.567																																						uc001vyr.2																			0				ovary(2)|central_nervous_system(1)	3						c.(685-687)CTA>TTA		solute carrier family 39 (zinc transporter),							138.0	120.0	126.0					14																	21469493		2203	4300	6503	SO:0001819	synonymous_variant	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469493C>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.685C>T	14.37:g.21469493C>T						SLC39A2_uc001vys.2_Silent_p.L130L	p.L229L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	872	+	all_cancers(95;0.00267)		229			Helical; (Potential).		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Silent	SNP	ENST00000298681.4	37	c.685C>T	CCDS9563.1																																																																																				0.567	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579	
NPAP1	23742	broad.mit.edu	37	15	24921103	24921103	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:24921103G>A	ENST00000329468.2	+	1	563	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	30					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CCCCTGTCCCGGGACGCCTCC	0.706																																						uc001ywo.2																			0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(88-90)CGG>CAG		hypothetical protein LOC23742							6.0	9.0	8.0					15																	24921103		1961	3888	5849	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921103G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.89G>A	15.37:g.24921103G>A	ENSP00000333735:p.Arg30Gln						p.R30Q	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	563	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	30						Missense_Mutation	SNP	ENST00000329468.2	37	c.89G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	15.07	2.724818	0.48833	.	.	ENSG00000185823	ENST00000329468	T	0.05996	3.36	2.09	-1.21	0.09524	.	1.971860	0.03089	N	0.159568	T	0.03827	0.0108	L	0.29908	0.895	0.09310	N	1	D	0.56035	0.974	B	0.34824	0.19	T	0.38178	-0.9673	10	0.27785	T	0.31	.	2.7514	0.05282	0.3385:0.2528:0.4087:0.0	.	30	Q9NZP6	CO002_HUMAN	Q	30	ENSP00000333735:R30Q	ENSP00000333735:R30Q	R	+	2	0	C15orf2	22472196	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.001000	0.13038	-0.299000	0.08909	0.484000	0.47621	CGG		0.706	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958	
CHRNB4	1143	broad.mit.edu	37	15	78917630	78917630	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78917630C>T	ENST00000261751.3	-	6	1453	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Silent_p.S121S	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	448					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	CAGTCCTCAACGACCTGCAGG	0.607																																						uc002bed.1																			0					0						c.(1342-1344)GTT>ATT		cholinergic receptor, nicotinic, beta 4							235.0	192.0	206.0					15																	78917630		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78917630C>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1342G>A	15.37:g.78917630C>T	ENSP00000261751:p.Val448Ile					CHRNB4_uc002bee.1_Silent_p.S121S|uc002bef.1_5'Flank	p.V448I	NM_000750	NP_000741	P30926	ACHB4_HUMAN			6	1454	-			448			Cytoplasmic (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.1342G>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831644	0.32329	.	.	ENSG00000117971	ENST00000261751	D	0.85484	-1.99	5.37	-4.34	0.03666	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.432703	0.23209	N	0.050697	T	0.51736	0.1692	N	0.00258	-1.755	0.18873	N	0.999987	B	0.02656	0.0	B	0.06405	0.002	T	0.52873	-0.8517	10	0.23302	T	0.38	.	14.5514	0.68070	0.0:0.2122:0.0:0.7878	.	448	P30926	ACHB4_HUMAN	I	448	ENSP00000261751:V448I	ENSP00000261751:V448I	V	-	1	0	CHRNB4	76704685	0.039000	0.19947	0.000000	0.03702	0.861000	0.49209	0.585000	0.23879	-0.745000	0.04772	-0.137000	0.14449	GTT		0.607	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1		
CHRNB4	1143	broad.mit.edu	37	15	78922161	78922161	+	Silent	SNP	G	G	A	rs80249872		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78922161G>A	ENST00000261751.3	-	5	597	c.486C>T	c.(484-486)ttC>ttT	p.F162F	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	162					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TCTGCTGGTCGAAGGGAAAGT	0.552																																						uc002bed.1																			0					0						c.(484-486)TTC>TTT		cholinergic receptor, nicotinic, beta 4							74.0	67.0	69.0					15																	78922161		2196	4293	6489	SO:0001819	synonymous_variant	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78922161G>A	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.486C>T	15.37:g.78922161G>A						CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	p.F162F	NM_000750	NP_000741	P30926	ACHB4_HUMAN			5	598	-			162			Extracellular (Potential).		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Silent	SNP	ENST00000261751.3	37	c.486C>T	CCDS10306.1																																																																																				0.552	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1		
SEPT12	124404	broad.mit.edu	37	16	4833669	4833669	+	Missense_Mutation	SNP	C	C	T	rs140969211	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:4833669C>T	ENST00000268231.8	-	6	874	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	SEPT12_ENST00000396693.5_Missense_Mutation_p.R158Q|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	204	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GAAGGCCTCTCGCTCCTCCAT	0.677													C|||	4	0.000798722	0.003	0.0	5008	,	,		16160	0.0		0.0	False		,,,				2504	0.0					uc002cxq.2																			0				skin(1)	1						c.(610-612)CGA>CAA		septin 12 isoform 2		C	GLN/ARG,GLN/ARG	3,4391	6.2+/-15.9	0,3,2194	51.0	54.0	53.0		473,611	4.6	1.0	16	dbSNP_134	53	0,8600		0,0,4300	yes	missense,missense	SEPT12	NM_001154458.2,NM_144605.4	43,43	0,3,6494	TT,TC,CC		0.0,0.0683,0.0231	probably-damaging,probably-damaging	158/313,204/359	4833669	3,12991	2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4833669C>T	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.611G>A	16.37:g.4833669C>T	ENSP00000268231:p.Arg204Gln					SEPT12_uc002cxr.2_Missense_Mutation_p.R158Q|SEPT12_uc010bty.2_RNA	p.R204Q	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			6	752	-			204					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.611G>A	CCDS10522.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.57	2.872592	0.51695	6.83E-4	0.0	ENSG00000140623	ENST00000396693;ENST00000268231	D;T	0.82711	-1.64;0.7	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	M	0.92268	3.29	0.42425	D	0.992651	D;D	0.89917	1.0;1.0	D;D	0.80764	0.992;0.994	D	0.94633	0.7823	10	0.72032	D	0.01	.	16.1963	0.82029	0.0:1.0:0.0:0.0	.	158;204	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	Q	158;204	ENSP00000379922:R158Q;ENSP00000268231:R204Q	ENSP00000268231:R204Q	R	-	2	0	SEPT12	4773670	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	3.806000	0.55583	2.416000	0.81992	0.313000	0.20887	CGA		0.677	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605	
ITGAD	3681	broad.mit.edu	37	16	31435264	31435264	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:31435264C>T	ENST00000389202.2	+	27	3193	c.3144C>T	c.(3142-3144)ttC>ttT	p.F1048F		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	1048					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTCAGTTTCGGCTGGGTCC	0.642																																						uc002ebv.1																			0				skin(1)	1						c.(3142-3144)TTC>TTT		integrin, alpha D precursor							52.0	44.0	46.0					16																	31435264		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31435264C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.3144C>T	16.37:g.31435264C>T						ITGAD_uc010cap.1_Silent_p.F1049F	p.F1048F	NM_005353	NP_005344	Q13349	ITAD_HUMAN			27	3193	+			1048			Extracellular (Potential).		Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.3144C>T	CCDS32438.1																																																																																				0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353	
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	rs144505396		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:49407930G>A	ENST00000299191.3	+	1	197	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	27						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20790	0.0		0.0	False		,,,				2504	0.0					uc002efr.2																			0				central_nervous_system(1)	1						c.(79-81)CGC>CAC		hypothetical protein LOC123970		G	HIS/ARG	5,4393	9.9+/-24.2	0,5,2194	141.0	124.0	130.0		80	1.6	0.3	16	dbSNP_134	130	0,8600		0,0,4300	yes	missense	C16orf78	NM_144602.2	29	0,5,6494	AA,AG,GG		0.0,0.1137,0.0385	possibly-damaging	27/266	49407930	5,12993	2199	4300	6499	SO:0001583	missense	123970							g.chr16:49407930G>A	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.80G>A	16.37:g.49407930G>A	ENSP00000299191:p.Arg27His						p.R27H	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			1	123	+			27						Missense_Mutation	SNP	ENST00000299191.3	37	c.80G>A	CCDS10738.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.93	1.489016	0.26686	0.001137	0.0	ENSG00000166152	ENST00000299191	T	0.60672	0.17	3.59	1.62	0.23740	.	0.000000	0.39083	N	0.001480	T	0.53658	0.1810	L	0.32530	0.975	0.18873	N	0.999984	D	0.76494	0.999	P	0.56343	0.796	T	0.43589	-0.9382	10	0.72032	D	0.01	-28.566	6.1855	0.20495	0.2354:0.0:0.7646:0.0	.	27	Q8WTQ4	CP078_HUMAN	H	27	ENSP00000299191:R27H	ENSP00000299191:R27H	R	+	2	0	C16orf78	47965431	0.252000	0.23972	0.275000	0.24674	0.014000	0.08584	0.619000	0.24388	0.511000	0.28236	-0.254000	0.11334	CGC		0.512	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602	
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						uc002gyy.3																			18	Substitution - Missense(18)		endometrium(12)|prostate(6)								c.(445-447)CTG>CGG		SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA;																																				SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg						p.L149R							2	571	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2		
NF1	4763	broad.mit.edu	37	17	29588751	29588751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:29588751C>T	ENST00000358273.4	+	35	4983	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1513*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1534					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1534*(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTGGAAGACGACCTTTTGA	0.413			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		15	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(3)	p.?(3)|p.R1534*(3)	soft_tissue(9)|central_nervous_system(3)|autonomic_ganglia(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330	GRCh37	CM941093	NF1	M		c.(4600-4602)CGA>TGA		neurofibromin isoform 1							127.0	111.0	117.0					17																	29588751		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29588751C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4600C>T	17.37:g.29588751C>T	ENSP00000351015:p.Arg1534*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546*	p.R1534*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	35	4933	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1534					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.4600C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	39	7.727621	0.98456	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2503	0.60048	0.1585:0.8414:0.0:0.0	.	.	.	.	X	1534;1513;1179	.	ENSP00000348498:R1513X	R	+	1	2	NF1	26612877	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.061000	0.41403	2.565000	0.86533	0.650000	0.86243	CGA		0.413	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
KRT25	147183	broad.mit.edu	37	17	38904633	38904633	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:38904633C>T	ENST00000312150.4	-	8	1309	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATGGCTTTGGCTGGGTCTGAG	0.348																																						uc002hve.2																			0				ovary(2)	2						c.(1249-1251)GCC>ACC		keratin 25							121.0	114.0	117.0					17																	38904633		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38904633C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.1249G>A	17.37:g.38904633C>T	ENSP00000310573:p.Ala417Thr						p.A417T	NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN			8	1310	-		Breast(137;0.00526)	417			Tail.			Missense_Mutation	SNP	ENST00000312150.4	37	c.1249G>A	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	9.828	1.187720	0.21954	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.82081	-1.57	5.75	-6.75	0.01738	.	2.304750	0.01320	N	0.010917	T	0.61652	0.2364	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55528	-0.8127	10	0.12103	T	0.63	.	3.6459	0.08184	0.0959:0.1432:0.3789:0.3821	.	417	Q7Z3Z0	K1C25_HUMAN	T	346;417	ENSP00000310573:A417T	ENSP00000310573:A417T	A	-	1	0	KRT25	36158159	0.000000	0.05858	0.000000	0.03702	0.616000	0.37450	-1.974000	0.01499	-1.102000	0.03023	-0.176000	0.13171	GCC		0.348	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534	
RAD51C	5889	broad.mit.edu	37	17	56809897	56809897	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:56809897C>G	ENST00000337432.4	+	8	1089	c.1018C>G	c.(1018-1020)Caa>Gaa	p.Q340E	RAD51C_ENST00000583539.1_Missense_Mutation_p.Q340E	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	340					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.Q340K(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTGTTTCAAATCAAAGT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2																			1	Substitution - Missense(1)		upper_aerodigestive_tract(1)		0						c.(1018-1020)CAA>GAA	Homologous_recombination	RAD51 homolog C isoform 1							156.0	144.0	148.0					17																	56809897		2203	4300	6503	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56809897C>G	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1018C>G	17.37:g.56809897C>G	ENSP00000336701:p.Gln340Glu					RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA	p.Q340E	NM_058216	NP_478123	O43502	RA51C_HUMAN			8	1060	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		340					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.1018C>G	CCDS11611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.378|1.378	-0.584194|-0.584194	0.03827|0.03827	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000337432|ENST00000413590	T|.	0.39056|.	1.1|.	5.75|5.75	0.794|0.794	0.18638|0.18638	DNA recombination and repair protein Rad51, C-terminal (1);|.	1.213780|.	0.05299|.	N|.	0.522595|.	T|.	0.57154|.	0.2034|.	L|L	0.39245|0.39245	1.2|1.2	0.80722|0.80722	D|D	1|1	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.14023|.	0.01;0.005|.	T|.	0.54057|.	-0.8350|.	10|.	0.29301|.	T|.	0.29|.	-0.8649|-0.8649	16.3106|16.3106	0.82869|0.82869	0.0:0.4343:0.5657:0.0|0.0:0.4343:0.5657:0.0	.|.	331;340|.	B4E0G0;O43502|.	.;RA51C_HUMAN|.	E|X	340|220	ENSP00000336701:Q340E|.	ENSP00000336701:Q340E|.	Q|S	+|+	1|2	0|0	RAD51C|RAD51C	54164896|54164896	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.953000|0.953000	0.61014|0.61014	0.187000|0.187000	0.16998|0.16998	0.302000|0.302000	0.22762|0.22762	0.585000|0.585000	0.79938|0.79938	CAA|TCA		0.338	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2	NM_058216	
BAHCC1	57597	broad.mit.edu	37	17	79412126	79412126	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:79412126C>T	ENST00000307745.7	+	13	2757	c.2757C>T	c.(2755-2757)ctC>ctT	p.L919L																								CGGGCCAGCTCCCTGTGTACT	0.697																																						uc002kaf.2																			0				ovary(1)	1						c.(2755-2757)CTC>CTT		BAH domain and coiled-coil containing 1							7.0	9.0	9.0					17																	79412126		2026	4160	6186	SO:0001819	synonymous_variant	57597						DNA binding	g.chr17:79412126C>T																												ENST00000307745.7:c.2757C>T	17.37:g.79412126C>T						BAHCC1_uc002kae.2_Silent_p.L118L	p.L919L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)		7	2757	+	all_neural(118;0.0804)|Melanoma(429;0.242)		919			Pro-rich.			Silent	SNP	ENST00000307745.7	37	c.2757C>T																																																																																					0.697	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
LAMA1	284217	broad.mit.edu	37	18	7011448	7011448	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:7011448G>A	ENST00000389658.3	-	25	3631	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1180	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAAACCACACGCAGAAGAGGC	0.552																																						uc002knm.2																			0				ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(3538-3540)CGT>TGT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						28.0	29.0	28.0					18																	7011448		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7011448G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.3538C>T	18.37:g.7011448G>A	ENSP00000374309:p.Arg1180Cys					LAMA1_uc010wzj.1_Missense_Mutation_p.R656C	p.R1180C	NM_005559	NP_005550	P25391	LAMA1_HUMAN			25	3632	-		Colorectal(10;0.172)	1180			Laminin IV type A 2.			Missense_Mutation	SNP	ENST00000389658.3	37	c.3538C>T	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127936	0.77549	.	.	ENSG00000101680	ENST00000389658	T	0.18657	2.2	5.87	4.98	0.66077	Laminin B type IV (1);	0.503034	0.19034	N	0.124469	T	0.31734	0.0806	L	0.57536	1.79	0.33589	D	0.600841	D	0.71674	0.998	P	0.53689	0.732	T	0.46386	-0.9195	10	0.38643	T	0.18	.	10.5178	0.44900	0.0686:0.0:0.7967:0.1347	.	1180	P25391	LAMA1_HUMAN	C	1180	ENSP00000374309:R1180C	ENSP00000374309:R1180C	R	-	1	0	LAMA1	7001448	1.000000	0.71417	0.998000	0.56505	0.948000	0.59901	4.218000	0.58554	1.432000	0.47375	0.643000	0.83706	CGT		0.552	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MIB1	57534	broad.mit.edu	37	18	19358097	19358097	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:19358097G>A	ENST00000261537.6	+	5	934	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	AC091038.1_ENST00000582102.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	224					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCCAAGGGAGGTTCTTTCTA	0.403																																						uc002ktq.2																			0				ovary(4)	4						c.(670-672)GGT>AGT		mindbomb homolog 1							162.0	147.0	152.0					18																	19358097		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19358097G>A	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.670G>A	18.37:g.19358097G>A	ENSP00000261537:p.Gly224Ser					MIB1_uc002ktp.2_5'UTR	p.G224S	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		5	670	+			224					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.670G>A	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530533	0.85706	.	.	ENSG00000101752	ENST00000261537	T	0.37584	1.19	5.56	4.67	0.58626	.	0.050079	0.85682	D	0.000000	T	0.32315	0.0825	L	0.42529	1.33	0.80722	D	1	P	0.51791	0.948	B	0.41332	0.354	T	0.05068	-1.0908	10	0.27785	T	0.31	-22.1333	16.2148	0.82198	0.0:0.1332:0.8668:0.0	.	224	Q86YT6	MIB1_HUMAN	S	224	ENSP00000261537:G224S	ENSP00000261537:G224S	G	+	1	0	MIB1	17612095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	1.301000	0.44836	0.655000	0.94253	GGT		0.403	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774	
DSG3	1830	broad.mit.edu	37	18	29039054	29039054	+	Missense_Mutation	SNP	C	C	T	rs62095186		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:29039054C>T	ENST00000257189.4	+	5	514	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	144	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATACTAACGGTTAAAATT	0.358																																						uc002kws.2																			0				skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(430-432)ACG>ATG		desmoglein 3 preproprotein							78.0	79.0	78.0					18																	29039054		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29039054C>T	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.431C>T	18.37:g.29039054C>T	ENSP00000257189:p.Thr144Met						p.T144M	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		5	540	+			144			Extracellular (Potential).|Cadherin 1.		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.431C>T	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.780045	0.31502	.	.	ENSG00000134757	ENST00000257189	T	0.56103	0.48	5.3	3.39	0.38822	Cadherin (4);Cadherin-like (1);	0.440720	0.19178	N	0.120780	T	0.62938	0.2469	L	0.53249	1.67	0.21627	N	0.999616	D	0.89917	1.0	D	0.75020	0.985	T	0.50608	-0.8808	10	0.34782	T	0.22	.	9.586	0.39517	0.0:0.6157:0.3031:0.0812	rs62095186	144	P32926	DSG3_HUMAN	M	144	ENSP00000257189:T144M	ENSP00000257189:T144M	T	+	2	0	DSG3	27293052	0.018000	0.18449	0.645000	0.29479	0.114000	0.19823	1.100000	0.31025	1.363000	0.46019	0.591000	0.81541	ACG		0.358	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944	
RPSAP58	388524	broad.mit.edu	37	19	24010322	24010322	+	Missense_Mutation	SNP	G	G	A	rs13343419	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:24010322G>A	ENST00000496398.1	+	4	782	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.R120Q					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						TGGGAGCCACGGCTTCTTGTG	0.552													.|||	359	0.0716853	0.1467	0.1196	5008	,	,		15565	0.0367		0.006	False		,,,				2504	0.0399					uc002nrn.2																			0					0						c.(358-360)CGG>CAG		ribosomal protein SA																																				SO:0001583	missense	388524							g.chr19:24010322G>A			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.359G>A	19.37:g.24010322G>A	ENSP00000417240:p.Arg120Gln						p.R120Q	NM_002295	NP_002286					4	782	+									Missense_Mutation	SNP	ENST00000496398.1	37	c.359G>A		155	0.07097069597069597	74	0.15040650406504066	41	0.1132596685082873	30	0.05244755244755245	10	0.013192612137203167	.	8.739	0.918453	0.17982	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.44482	0.92;0.92	2.52	2.52	0.30459	.	0.000000	0.64402	U	0.000001	T	0.00178	0.0005	.	.	.	0.23747	P	0.99695424	B	0.12013	0.005	B	0.09377	0.004	T	0.12192	-1.0557	8	0.72032	D	0.01	.	10.8987	0.47038	0.0:0.0:1.0:0.0	rs13343419	120	A6NE09	.	Q	120	ENSP00000417240:R120Q;ENSP00000346598:R120Q	ENSP00000346598:R120Q	R	+	2	0	RPSAP58	23802162	1.000000	0.71417	0.325000	0.25375	0.123000	0.20343	5.877000	0.69675	1.477000	0.48234	0.627000	0.83407	CGG		0.552	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					uc010ydv.1																			3	Substitution - Missense(3)		kidney(3)		0						c.(2773-2775)CGT>CAT		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN			4	2891	+			925			C2H2-type 26.			Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908	
APOB	338	broad.mit.edu	37	2	21232448	21232448	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:21232448T>C	ENST00000233242.1	-	26	7419	c.7292A>G	c.(7291-7293)gAt>gGt	p.D2431G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2431					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTGGTAATCAAATGACTT	0.343																																						uc002red.2																			0				ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(7291-7293)GAT>GGT		apolipoprotein B precursor	Atorvastatin(DB01076)						88.0	86.0	86.0					2																	21232448		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21232448T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.7292A>G	2.37:g.21232448T>C	ENSP00000233242:p.Asp2431Gly						p.D2431G	NM_000384	NP_000375	P04114	APOB_HUMAN			26	7420	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2431					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.7292A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.985932	0.74589	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01034	5.42	5.49	5.49	0.81192	.	0.371166	0.23321	N	0.049460	T	0.03348	0.0097	M	0.76574	2.34	0.80722	D	1	D	0.55605	0.972	P	0.50659	0.647	T	0.44360	-0.9333	10	0.72032	D	0.01	.	15.5929	0.76550	0.0:0.0:0.0:1.0	.	2431	P04114	APOB_HUMAN	G	2431	ENSP00000233242:D2431G	ENSP00000233242:D2431G	D	-	2	0	APOB	21085953	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.436000	0.59948	2.075000	0.62263	0.459000	0.35465	GAT		0.343	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
SLC9A4	389015	broad.mit.edu	37	2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	rs368438401		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:103141556G>A	ENST00000295269.4	+	10	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	631					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507																																						uc002tbz.3																			0				skin(2)|central_nervous_system(1)	3						c.(1891-1893)CGC>CAC		solute carrier family 9 (sodium/hydrogen		G	HIS/ARG	0,4406		0,0,2203	155.0	161.0	159.0		1892	5.8	1.0	2		159	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC9A4	NM_001011552.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	631/799	103141556	1,13005	2203	4300	6503	SO:0001583	missense	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103141556G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1892G>A	2.37:g.103141556G>A	ENSP00000295269:p.Arg631His						p.R631H	NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN			10	2349	+			631			Cytoplasmic (Potential).		Q69YK0	Missense_Mutation	SNP	ENST00000295269.4	37	c.1892G>A	CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984733	0.74474	0.0	1.16E-4	ENSG00000180251	ENST00000295269	T	0.44083	0.93	5.84	5.84	0.93424	.	0.213337	0.50627	D	0.000109	T	0.69106	0.3074	M	0.83603	2.65	0.45962	D	0.998788	D	0.89917	1.0	D	0.78314	0.991	T	0.70912	-0.4743	10	0.56958	D	0.05	.	18.9173	0.92510	0.0:0.0:1.0:0.0	.	631	Q6AI14	SL9A4_HUMAN	H	631	ENSP00000295269:R631H	ENSP00000295269:R631H	R	+	2	0	SLC9A4	102507988	1.000000	0.71417	1.000000	0.80357	0.321000	0.28281	3.351000	0.52232	2.765000	0.95021	0.643000	0.83706	CGC		0.507	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	
GCC2	9648	broad.mit.edu	37	2	109087914	109087914	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:109087914delT	ENST00000309863.6	+	6	2843	c.2129delT	c.(2128-2130)gttfs	p.V710fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	710					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GATTTGGAGGTTTTTTTGTCT	0.299																																						uc002tec.2																			0				ovary(1)	1						c.(2128-2130)GTTfs		GRIP and coiled-coil domain-containing 2							118.0	149.0	138.0					2																	109087914		2199	4294	6493	SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087914delT	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2129delT	2.37:g.109087914delT	ENSP00000307939:p.Val710fs					GCC2_uc002ted.2_Frame_Shift_Del_p.V609fs	p.V710fs	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			6	2283	+			710			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	c.2129delT	CCDS33268.1																																																																																				0.299	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
COL6A1	1291	broad.mit.edu	37	21	47423347	47423347	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr21:47423347G>A	ENST00000361866.3	+	35	2621	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	836	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.			DGSAS -> EPPPD (in Ref. 1; CAA33889). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		CTGCTGGACGGCTCCGCCAGC	0.692																																						uc002zhu.1																			0				ovary(1)	1						c.(2506-2508)GGC>GAC		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						18.0	21.0	20.0					21																	47423347		2172	4225	6397	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423347G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2507G>A	21.37:g.47423347G>A	ENSP00000355180:p.Gly836Asp					COL6A1_uc010gqd.1_Missense_Mutation_p.G167D|COL6A1_uc002zhv.1_Missense_Mutation_p.G167D|COL6A1_uc002zhw.1_5'UTR	p.G836D	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2609	+	all_hematologic(128;0.24)		836	DGSAS -> EPPPD (in Ref. 1; CAA33889).		C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.2507G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883978	0.91814	.	.	ENSG00000142156	ENST00000361866	D	0.85088	-1.94	4.84	4.84	0.62591	von Willebrand factor, type A (3);	0.166096	0.51477	D	0.000087	D	0.82811	0.5118	L	0.50333	1.59	0.35246	D	0.778274	B	0.31752	0.338	B	0.33121	0.158	D	0.85468	0.1171	10	0.35671	T	0.21	-13.0292	17.9519	0.89056	0.0:0.0:1.0:0.0	.	836	P12109	CO6A1_HUMAN	D	836	ENSP00000355180:G836D	ENSP00000355180:G836D	G	+	2	0	COL6A1	46247775	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	8.836000	0.92105	2.234000	0.73211	0.530000	0.56133	GGC		0.692	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	
SLC5A4	6527	broad.mit.edu	37	22	32628993	32628993	+	Missense_Mutation	SNP	T	T	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:32628993T>G	ENST00000266086.4	-	9	925	c.914A>C	c.(913-915)aAg>aCg	p.K305T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	305					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGACATGTCCTTGCCACACAG	0.557																																						uc003ami.2																			0					0						c.(913-915)AAG>ACG		solute carrier family 5 (low affinity glucose							117.0	79.0	92.0					22																	32628993		2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32628993T>G	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.914A>C	22.37:g.32628993T>G	ENSP00000266086:p.Lys305Thr						p.K305T	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			9	916	-			305			Cytoplasmic (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.914A>C	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	.	17.77	3.470811	0.63625	.	.	ENSG00000100191	ENST00000266086	D	0.90444	-2.67	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.96163	0.8749	M	0.94021	3.485	0.80722	D	1	D	0.61697	0.99	D	0.85130	0.997	D	0.96705	0.9521	10	0.66056	D	0.02	.	12.3969	0.55391	0.0:0.0:0.0:1.0	.	305	Q9NY91	SC5A4_HUMAN	T	305	ENSP00000266086:K305T	ENSP00000266086:K305T	K	-	2	0	SLC5A4	30958993	1.000000	0.71417	0.998000	0.56505	0.364000	0.29643	4.930000	0.63462	2.098000	0.63641	0.460000	0.39030	AAG		0.557	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227	
CYP2D6	1565	broad.mit.edu	37	22	42523567	42523567	+	Missense_Mutation	SNP	T	T	C	rs61736517	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:42523567T>C	ENST00000360608.5	-	7	1169	c.1055A>G	c.(1054-1056)cAc>cGc	p.H352R	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.H301R|NDUFA6-AS1_ENST00000417327.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.H352R	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	352					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GTAGGGCATGTGAGCCTGGTC	0.592																																						uc003bce.2																			0				breast(1)|skin(1)	2						c.(1054-1056)CAC>CGC		cytochrome P450, family 2, subfamily D,							99.0	76.0	84.0					22																	42523567		2203	4300	6503	SO:0001583	missense	1565						electron carrier activity|heme binding|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	g.chr22:42523567T>C	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1055A>G	22.37:g.42523567T>C	ENSP00000353820:p.His352Arg					uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.H46R|CYP2D6_uc003bcf.2_Missense_Mutation_p.H301R	p.H352R	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			7	1145	-			352					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.1055A>G	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.874767	0.00542	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.78003	-1.14;-1.14;5.16	4.93	-5.98	0.02220	.	0.762168	0.12266	N	0.484237	T	0.44371	0.1290	N	0.03209	-0.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.49799	-0.8901	10	0.02654	T	1	.	9.7516	0.40478	0.0989:0.2372:0.0:0.6639	.	352;301;352	C1ID54;Q6NXU8;Q6NWU0	.;.;.	R	352;352;298;301;301	ENSP00000353820:H352R;ENSP00000374620:H352R;ENSP00000351927:H301R	ENSP00000351927:H301R	H	-	2	0	CYP2D6	40853511	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	-0.542000	0.06091	-1.267000	0.02443	-1.442000	0.01069	CAC		0.592	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
MAPK8IP2	23542	broad.mit.edu	37	22	51041769	51041771	+	In_Frame_Del	DEL	GAG	GAG	-	rs572434194	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:51041769_51041771delGAG	ENST00000329492.3	+	3	406_408	c.289_291delGAG	c.(289-291)gagdel	p.E103del	MAPK8IP2_ENST00000442429.2_In_Frame_Del_p.E103del|MAPK8IP2_ENST00000341339.4_Intron|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000008876.5_In_Frame_Del_p.E76del|MAPK8IP2_ENST00000399912.1_5'UTR	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.E97delE(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ggacgaggaagaggaggaggagg	0.631														10	0.00199681	0.003	0.0014	5008	,	,		18122	0.001		0.0	False		,,,				2504	0.0041					uc003bmx.2																			1	Deletion - In frame(1)		prostate(1)	large_intestine(2)|central_nervous_system(1)	3						c.(289-291)GAGdel		mitogen-activated protein kinase 8 interacting			,	17,100,3819		3,0,11,9,82,1863					,	-7.2	0.1			25	5,202,7773		0,0,5,21,160,3804	no	codingComplex,codingComplex	MAPK8IP2	NM_016431.3,NM_012324.3	,	3,0,16,30,242,5667	A1A1,A1A2,A1R,A2A2,A2R,RR		2.594,2.9726,2.719	,	,		22,302,11592				SO:0001651	inframe_deletion	23542				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding	g.chr22:51041769_51041771delGAG	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000329492.3:c.289_291delGAG	22.37:g.51041778_51041780delGAG	ENSP00000330572:p.Glu103del					MAPK8IP2_uc003bmy.2_In_Frame_Del_p.E76del|MAPK8IP2_uc011asc.1_5'Flank	p.E103del	NM_012324	NP_036456	Q13387	JIP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	3	406_408	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	103			Asp/Glu-rich (acidic).		Q96G62|Q99771|Q9NZ59|Q9UKQ4	In_Frame_Del	DEL	ENST00000329492.3	37	c.289_291delGAG																																																																																					0.631	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_012324	
ZNF717	100131827	broad.mit.edu	37	3	75790814	75790814	+	Missense_Mutation	SNP	C	C	T	rs200578600		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:75790814C>T	ENST00000477374.1	-	3	302	c.131G>A	c.(130-132)aGg>aAg	p.R44K	ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000422325.1_Missense_Mutation_p.R44K|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Missense_Mutation_p.R37K			Q9BY31	ZN717_HUMAN	zinc finger protein 717	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GTACAGGGTCCTCTGAGCATC	0.522																																						uc011bgi.1																			0					0						c.(130-132)AGG>AAG		zinc finger protein 717							26.0	19.0	21.0					3																	75790814		461	1282	1743	SO:0001583	missense	100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790814C>T	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000477374.1:c.131G>A	3.37:g.75790814C>T	ENSP00000417902:p.Arg44Lys					ZNF717_uc003dpw.3_RNA	p.R44K	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN			3	454	-			44						Missense_Mutation	SNP	ENST00000477374.1	37	c.131G>A		.	.	.	.	.	.	.	.	.	.	.	0.016	-1.522747	0.00967	.	.	ENSG00000227124	ENST00000477374;ENST00000422325;ENST00000400845;ENST00000468296	T;T;T;T	0.01685	4.69;4.69;4.69;4.69	1.97	-0.08	0.13708	.	.	.	.	.	T	0.01156	0.0038	N	0.16833	0.445	0.24464	N	0.994426	B	0.19445	0.036	B	0.19391	0.025	T	0.49351	-0.8949	9	0.15066	T	0.55	.	4.274	0.10800	0.0:0.6009:0.0:0.3991	.	44	C9JSV9	.	K	44;44;37;44	ENSP00000417902:R44K;ENSP00000409514:R44K;ENSP00000383643:R37K;ENSP00000418187:R44K	ENSP00000383643:R37K	R	-	2	0	ZNF717	75873504	0.003000	0.15002	0.926000	0.36857	0.423000	0.31445	-0.511000	0.06321	-0.176000	0.10707	-0.284000	0.09977	AGG		0.522	ZNF717-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000352767.1	NM_001128223	
EEFSEC	60678	broad.mit.edu	37	3	127981028	127981028	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:127981028C>T	ENST00000254730.6	+	3	636	c.582C>T	c.(580-582)ccC>ccT	p.P194P	EEFSEC_ENST00000483457.1_Silent_p.P194P	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	194	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				selenocysteine incorporation (GO:0001514)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)|translation elongation factor activity (GO:0003746)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CAGAGGCCCCCGAAACTGAAG	0.562																																						uc003eki.2																			0				ovary(1)	1						c.(580-582)CCC>CCT		eukaryotic elongation factor,							87.0	100.0	96.0					3																	127981028		2203	4300	6503	SO:0001819	synonymous_variant	60678					cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:127981028C>T		CCDS33849.1	3q21.3	2007-05-25			ENSG00000132394	ENSG00000132394			24614	protein-coding gene	gene with protein product	"""elongation factor for selenoprotein translation"""	607695				10970870, 15229221	Standard	XM_005247696		Approved	SELB, EFSEC	uc003eki.3	P57772	OTTHUMG00000159659	ENST00000254730.6:c.582C>T	3.37:g.127981028C>T						EEFSEC_uc003ekj.2_Silent_p.P194P	p.P194P	NM_021937	NP_068756	P57772	SELB_HUMAN			3	620	+			194					Q96HZ6	Silent	SNP	ENST00000254730.6	37	c.582C>T	CCDS33849.1																																																																																				0.562	EEFSEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356738.2	NM_021937	
INTU	27152	broad.mit.edu	37	4	128564761	128564761	+	Missense_Mutation	SNP	C	C	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr4:128564761C>G	ENST00000335251.6	+	2	335	c.232C>G	c.(232-234)Ctc>Gtc	p.L78V	INTU_ENST00000296461.5_Missense_Mutation_p.L78V	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	78					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGAAGAAAGCCTCCTTCCTGA	0.393																																						uc003ifk.1																			0				ovary(1)	1						c.(232-234)CTC>GTC		PDZ domain containing 6							168.0	182.0	177.0					4																	128564761		2203	4300	6503	SO:0001583	missense	27152							g.chr4:128564761C>G	BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.232C>G	4.37:g.128564761C>G	ENSP00000334003:p.Leu78Val					INTU_uc011cgq.1_RNA	p.L78V	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN			2	302	+			78					A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	c.232C>G	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735108	0.48939	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.49720	0.77	5.1	3.33	0.38152	.	0.288376	0.33834	N	0.004501	T	0.43188	0.1236	M	0.70275	2.135	0.44595	D	0.997562	B	0.18310	0.027	B	0.16289	0.015	T	0.37197	-0.9716	10	0.52906	T	0.07	-0.9196	6.3086	0.21153	0.1264:0.5591:0.2451:0.0695	.	78	Q9ULD6	PDZD6_HUMAN	V	59;78;78	ENSP00000296461:L78V	ENSP00000296461:L78V	L	+	1	0	INTU	128784211	0.998000	0.40836	0.997000	0.53966	0.982000	0.71751	1.287000	0.33284	0.695000	0.31675	0.655000	0.94253	CTC		0.393	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
ELOVL7	79993	broad.mit.edu	37	5	60060144	60060144	+	Missense_Mutation	SNP	G	G	A	rs200379193		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:60060144G>A	ENST00000508821.1	-	7	723	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ELOVL7_ENST00000425382.1_Missense_Mutation_p.R137C|ELOVL7_ENST00000505959.1_Missense_Mutation_p.R124C|ELOVL7_ENST00000438340.1_Missense_Mutation_p.R137C	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	137					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTTTCTTGCGCAGAACAAAA	0.348																																						uc003jsi.3																			0					0						c.(409-411)CGC>TGC		elongation of very long chain fatty acids-like							67.0	65.0	66.0					5																	60060144		2203	4300	6503	SO:0001583	missense	79993				fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	g.chr5:60060144G>A	AK027216	CCDS34164.1	5q12	2011-05-25	2011-05-25			ENSG00000164181			26292	protein-coding gene	gene with protein product		614451	"""ELOVL family member 7, elongation of long chain fatty acids (yeast)"""			19826053	Standard	NM_024930		Approved	FLJ23563	uc010iwk.3	A1L3X0		ENST00000508821.1:c.409C>T	5.37:g.60060144G>A	ENSP00000424123:p.Arg137Cys					ELOVL7_uc011cqo.1_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.2_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.3_Missense_Mutation_p.R124C	p.R137C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN			7	609	-		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)	137					Q589T3|Q9H5D0|Q9NT66	Missense_Mutation	SNP	ENST00000508821.1	37	c.409C>T	CCDS34164.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218426	0.79464	.	.	ENSG00000164181	ENST00000508821;ENST00000438340;ENST00000425382;ENST00000505959;ENST00000507047;ENST00000511799	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.74427	0.3715	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86251	0.1649	10	0.87932	D	0	-9.6232	18.471	0.90774	0.0:0.0:1.0:0.0	.	124;137	D6RHD0;A1L3X0	.;ELOV7_HUMAN	C	137;137;137;124;137;137	ENSP00000424123:R137C;ENSP00000411255:R137C;ENSP00000402634:R137C;ENSP00000421043:R124C;ENSP00000426400:R137C;ENSP00000424081:R137C	ENSP00000402634:R137C	R	-	1	0	ELOVL7	60095901	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.569000	0.67391	2.606000	0.88127	0.650000	0.86243	CGC		0.348	ELOVL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368195.1		
PCDHGA3	56112	broad.mit.edu	37	5	140725076	140725076	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140725076C>T	ENST00000253812.6	+	1	1476	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	492	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATTGACCGAGGACACTC	0.542																																						uc003ljm.1																			0				breast(1)	1						c.(1474-1476)ACC>ACT		protocadherin gamma subfamily A, 3 isoform 1							75.0	84.0	81.0					5																	140725076		2082	4238	6320	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725076C>T	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1476C>T	5.37:g.140725076C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.T252T|PCDHGA3_uc011dap.1_Silent_p.T492T	p.T492T	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1476	+			492			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1476C>T	CCDS47290.1																																																																																				0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGA6	56109	broad.mit.edu	37	5	140755737	140755737	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140755737C>T	ENST00000517434.1	+	1	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6	696					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672																																						uc003ljy.1																			0				breast(1)	1						c.(2086-2088)GCG>GTG		protocadherin gamma subfamily A, 6 isoform 1							58.0	67.0	64.0					5																	140755737		2202	4293	6495	SO:0001583	missense	56109				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140755737C>T	AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731		"""Cadherins / Protocadherins : Clustered"""	8704	other	protocadherin		606293				10380929	Standard	NM_018919		Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2087C>T	5.37:g.140755737C>T	ENSP00000429601:p.Ala696Val					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_uc011dau.1_Missense_Mutation_p.A696V	p.A696V	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2087	+			696			Helical; (Potential).		A6H8K7|B2RN55|Q9Y5D1	Missense_Mutation	SNP	ENST00000517434.1	37	c.2087C>T	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	28.9	4.957947	0.92726	.	.	ENSG00000253731	ENST00000517434	T	0.25250	1.81	5.02	5.02	0.67125	.	0.000000	0.30890	U	0.008674	T	0.65760	0.2722	H	0.96547	3.84	0.37617	D	0.921163	D;D	0.89917	1.0;0.996	D;D	0.75020	0.985;0.965	T	0.79916	-0.1601	10	0.87932	D	0	.	18.889	0.92391	0.0:1.0:0.0:0.0	.	696;696	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	V	696	ENSP00000429601:A696V	ENSP00000429601:A696V	A	+	2	0	PCDHGA6	140735921	1.000000	0.71417	0.967000	0.41034	0.819000	0.46315	4.781000	0.62389	2.767000	0.95098	0.563000	0.77884	GCG		0.672	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374743.1	NM_018919	
FAT2	2196	broad.mit.edu	37	5	150942915	150942915	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:150942915A>G	ENST00000261800.5	-	2	3557	c.3545T>C	c.(3544-3546)aTg>aCg	p.M1182T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1182	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAATCCCATGTAGTTCCC	0.512																																						uc003lue.3																			0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(3544-3546)ATG>ACG		FAT tumor suppressor 2 precursor							88.0	90.0	89.0					5																	150942915		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150942915A>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3545T>C	5.37:g.150942915A>G	ENSP00000261800:p.Met1182Thr					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.M1182T	p.M1182T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	3558	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1182			Extracellular (Potential).|Cadherin 10.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.3545T>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	A	8.959	0.970177	0.18659	.	.	ENSG00000086570	ENST00000261800	T	0.50001	0.76	5.03	2.36	0.29203	Cadherin (4);Cadherin-like (1);	0.995923	0.08140	N	0.991701	T	0.27866	0.0686	N	0.12471	0.22	0.20563	N	0.999889	B	0.09022	0.002	B	0.09377	0.004	T	0.19745	-1.0296	10	0.13470	T	0.59	.	9.0575	0.36414	0.4633:0.0:0.0:0.5367	.	1182	Q9NYQ8	FAT2_HUMAN	T	1182	ENSP00000261800:M1182T	ENSP00000261800:M1182T	M	-	2	0	FAT2	150923108	0.550000	0.26489	0.848000	0.33437	0.945000	0.59286	1.379000	0.34340	0.828000	0.34709	0.459000	0.35465	ATG		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
LARP1	23367	broad.mit.edu	37	5	154135677	154135677	+	Intron	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:154135677C>T	ENST00000336314.4	+	2	229					NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1						cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAAGCCCCCCCGCCCAAGG	0.736																																						uc003lvp.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(358-360)CCC>CCT		la related protein isoform 2							9.0	11.0	10.0					5																	154135677		2132	4209	6341	SO:0001627	intron_variant	23367						protein binding|RNA binding	g.chr5:154135677C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.206-34208C>T	5.37:g.154135677C>T						LARP1_uc003lvo.2_Intron|LARP1_uc010jie.1_5'Flank	p.P120P	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	789	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	120					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.360C>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713835	0.30413	.	.	ENSG00000155506	ENST00000517616;ENST00000518892	.	.	.	2.89	0.486	0.16836	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56263	-0.8008	5	0.66056	D	0.02	.	5.3848	0.16213	0.0:0.4623:0.3804:0.1573	.	.	.	.	S	45;39	.	ENSP00000429852:P45S	P	+	1	0	LARP1	154115870	0.979000	0.34478	0.999000	0.59377	0.996000	0.88848	0.205000	0.17356	-0.049000	0.13379	0.650000	0.86243	CCC		0.736	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551	
GPR116	221395	broad.mit.edu	37	6	46826522	46826522	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:46826522A>T	ENST00000283296.7	-	17	3406	c.3118T>A	c.(3118-3120)Tcg>Acg	p.S1040T	GPR116_ENST00000456426.2_Missense_Mutation_p.S898T|GPR116_ENST00000545669.1_Missense_Mutation_p.S469T|GPR116_ENST00000362015.4_Missense_Mutation_p.S1040T|GPR116_ENST00000265417.7_Missense_Mutation_p.S1040T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1040					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCACCGATTTCCACACC	0.507																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				central_nervous_system(1)|skin(1)	2						c.(3118-3120)TCG>ACG		G-protein coupled receptor 116 precursor							52.0	52.0	52.0					6																	46826522		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826522A>T	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3118T>A	6.37:g.46826522A>T	ENSP00000283296:p.Ser1040Thr					GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T	p.S1040T	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3407	-			1040			Cytoplasmic (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.3118T>A	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.454000	0.26161	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15	5.61	5.61	0.85477	GPCR, family 2-like (1);	0.131367	0.35151	N	0.003412	T	0.20373	0.0490	L	0.39397	1.21	0.09310	N	1	P;B;P;B;P	0.48407	0.532;0.236;0.91;0.198;0.91	B;B;P;B;P	0.46917	0.263;0.261;0.531;0.257;0.531	T	0.06643	-1.0815	10	0.31617	T	0.26	-12.122	12.0988	0.53772	0.8716:0.0:0.0:0.1284	.	469;595;1040;898;1040	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	T	1040;1040;1040;898;411;1040;469	ENSP00000283296:S1040T;ENSP00000354563:S1040T;ENSP00000412866:S898T;ENSP00000265417:S1040T;ENSP00000441581:S469T	ENSP00000265417:S1040T	S	-	1	0	GPR116	46934481	0.003000	0.15002	0.987000	0.45799	0.793000	0.44817	1.173000	0.31920	2.135000	0.66039	0.528000	0.53228	TCG		0.507	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
MANEA	79694	broad.mit.edu	37	6	96054014	96054014	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:96054014G>A	ENST00000358812.4	+	5	1256	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	374	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAACACTCGGAACCGAATCA	0.408																																						uc003poo.1																			0				ovary(2)|breast(1)	3						c.(1120-1122)CGG>CGA		mannosidase, endo-alpha							98.0	106.0	103.0					6																	96054014		2203	4300	6503	SO:0001819	synonymous_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96054014G>A	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1122G>A	6.37:g.96054014G>A							p.R374R	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1262	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	374			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	ENST00000358812.4	37	c.1122G>A	CCDS5032.1																																																																																				0.408	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641	
SLC22A16	85413	broad.mit.edu	37	6	110768146	110768146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:110768146delA	ENST00000368919.3	-	3	647	c.581delT	c.(580-582)ttgfs	p.L194fs	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Frame_Shift_Del_p.L194fs|SLC22A16_ENST00000330550.4_Frame_Shift_Del_p.L160fs	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	194					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	TATTCCAAACAAAAACATGCT	0.433																																						uc003puf.2																			0				ovary(1)	1						c.(580-582)TTGfs		solute carrier family 22, member 16							79.0	73.0	75.0					6																	110768146		2203	4300	6503	SO:0001589	frameshift_variant	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110768146delA		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.581delT	6.37:g.110768146delA	ENSP00000357915:p.Leu194fs					SLC22A16_uc003pue.2_Frame_Shift_Del_p.L175fs	p.L194fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	3	648	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	194			Helical; (Potential).		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Frame_Shift_Del	DEL	ENST00000368919.3	37	c.581delT	CCDS5084.1																																																																																				0.433	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125	
OLIG3	167826	broad.mit.edu	37	6	137815222	137815222	+	Missense_Mutation	SNP	T	T	C	rs541674248	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:137815222T>C	ENST00000367734.2	-	1	309	c.86A>G	c.(85-87)cAc>cGc	p.H29R		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	29	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggtggcggtggtg	0.577																																						uc003qhp.1																			0					0						c.(85-87)CAC>CGC		oligodendrocyte transcription factor 3							52.0	56.0	55.0					6																	137815222		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815222T>C	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.86A>G	6.37:g.137815222T>C	ENSP00000356708:p.His29Arg						p.H29R	NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	310	-	Breast(32;0.165)|Colorectal(23;0.24)		29			Poly-His.		Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.86A>G	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.084187	0.36758	.	.	ENSG00000177468	ENST00000367734	D	0.99422	-5.88	5.55	5.55	0.83447	.	0.101283	0.41712	D	0.000831	D	0.97018	0.9026	N	0.08118	0	0.50039	D	0.999842	D	0.53885	0.963	P	0.52454	0.699	D	0.97379	0.9981	10	0.21540	T	0.41	-5.4979	13.9229	0.63942	0.0:0.0:0.0:1.0	.	29	Q7RTU3	OLIG3_HUMAN	R	29	ENSP00000356708:H29R	ENSP00000356708:H29R	H	-	2	0	OLIG3	137856915	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.657000	0.61490	2.095000	0.63458	0.482000	0.46254	CAC		0.577	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747	
REPS1	85021	broad.mit.edu	37	6	139266737	139266737	+	Silent	SNP	C	C	T	rs372546561		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:139266737C>T	ENST00000450536.2	-	3	949	c.375G>A	c.(373-375)tcG>tcA	p.S125S	REPS1_ENST00000258062.5_Silent_p.S125S|REPS1_ENST00000409812.2_Silent_p.S125S|REPS1_ENST00000367663.4_Silent_p.S125S|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Silent_p.S125S			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	125					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACCAGAATACGACCCTTGAT	0.483																																						uc003qii.2																			0				lung(1)|breast(1)	2						c.(373-375)TCG>TCA		RALBP1 associated Eps domain containing 1		C	,	0,4406		0,0,2203	142.0	135.0	138.0		375,375	-3.5	0.5	6		138	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	REPS1	NM_001128617.1,NM_031922.3	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	125/770,125/796	139266737	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266737C>T		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.375G>A	6.37:g.139266737C>T						REPS1_uc003qig.3_Silent_p.S125S|REPS1_uc011edr.1_Silent_p.S125S|REPS1_uc003qij.2_Silent_p.S125S|REPS1_uc003qik.2_5'UTR	p.S125S	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	954	-			125					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Silent	SNP	ENST00000450536.2	37	c.375G>A																																																																																					0.483	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
PCLO	27445	broad.mit.edu	37	7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:82580167C>T	ENST00000333891.9	-	6	10074	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_ENST00000423517.2_Missense_Mutation_p.R3246Q|PCLO_ENST00000437081.1_5'Flank	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.R3246L(2)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(9736-9738)CGA>CAA		piccolo isoform 1							89.0	85.0	86.0					7																	82580167		1867	4114	5981	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82580167C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9737G>A	7.37:g.82580167C>T	ENSP00000334319:p.Arg3246Gln					PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.2_Missense_Mutation_p.R211Q	p.R3246Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	10026	-			3177			Gln-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.9737G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147623	0.37923	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.59772	0.24;0.27	5.45	5.45	0.79879	.	.	.	.	.	T	0.77096	0.4080	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;D;D	0.77557	0.886;0.99;0.99	T	0.79482	-0.1785	9	0.87932	D	0	.	18.8749	0.92331	0.0:1.0:0.0:0.0	.	3177;3246;3246	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	Q	3177;3246;3246	ENSP00000334319:R3246Q;ENSP00000388393:R3246Q	ENSP00000334319:R3246Q	R	-	2	0	PCLO	82418103	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.792000	0.85828	2.565000	0.86533	0.462000	0.41574	CGA		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ABCB1	5243	broad.mit.edu	37	7	87174224	87174224	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:87174224G>C	ENST00000265724.3	-	17	2396	c.1979C>G	c.(1978-1980)tCc>tGc	p.S660C	ABCB1_ENST00000543898.1_Missense_Mutation_p.S596C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	660					drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATTAGACTGGATCTTGAATC	0.388																																						uc003uiz.1																			0				ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1978-1980)TCC>TGC		ATP-binding cassette, subfamily B, member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						131.0	120.0	123.0					7																	87174224		2203	4300	6503	SO:0001583	missense	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87174224G>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1979C>G	7.37:g.87174224G>C	ENSP00000265724:p.Ser660Cys					ABCB1_uc011khc.1_Missense_Mutation_p.S596C	p.S660C	NM_000927	NP_000918	P08183	MDR1_HUMAN			17	2397	-	Esophageal squamous(14;0.00164)		660			Cytoplasmic (Potential).		A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	ENST00000265724.3	37	c.1979C>G	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753869	0.49362	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.88277	-2.35;-2.36	5.75	5.75	0.90469	.	11.850800	0.00166	N	0.000000	D	0.93141	0.7816	M	0.65975	2.015	0.47621	D	0.999476	B;D	0.67145	0.03;0.996	B;P	0.51999	0.019;0.687	T	0.82343	-0.0504	10	0.59425	D	0.04	-15.8321	15.4381	0.75162	0.0:0.0:1.0:0.0	.	596;660	B5AK60;P08183	.;MDR1_HUMAN	C	441;660;596	ENSP00000265724:S660C;ENSP00000444095:S596C	ENSP00000265724:S660C	S	-	2	0	ABCB1	87012160	0.928000	0.31464	0.992000	0.48379	0.862000	0.49288	2.370000	0.44240	2.732000	0.93576	0.650000	0.86243	TCC		0.388	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
COL1A2	1278	broad.mit.edu	37	7	94039107	94039107	+	Missense_Mutation	SNP	G	G	A	rs67865220		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:94039107G>A	ENST00000297268.6	+	19	1480	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	337			G -> C (in OI3). {ECO:0000269|PubMed:10408781}.|G -> S (in OI3). {ECO:0000269|PubMed:8829649}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGCCGGTGCTACTGG	0.557										HNSCC(75;0.22)																												uc003ung.1																		COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	GRCh37	CM070788|CM960326|CM970356|CP015771	COL1A2	M|X	rs67865220	c.(1009-1011)GGT>AGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						110.0	104.0	106.0					7																	94039107		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94039107G>A	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1009G>A	7.37:g.94039107G>A	ENSP00000297268:p.Gly337Ser	HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G337S	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		19	1480	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		337		G -> S (in OI3).|G -> C (in OI3).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.1009G>A	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767603	0.90020	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.99167	-5.51	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.99619	0.9861	H	0.97315	3.98	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97837	1.0266	10	0.87932	D	0	.	20.2246	0.98337	0.0:0.0:1.0:0.0	.	337	P08123	CO1A2_HUMAN	S	337;338	ENSP00000297268:G337S	ENSP00000297268:G337S	G	+	1	0	COL1A2	93877043	1.000000	0.71417	0.999000	0.59377	0.708000	0.40852	9.411000	0.97342	2.861000	0.98227	0.655000	0.94253	GGT		0.557	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
C7orf43	55262	broad.mit.edu	37	7	99753440	99753440	+	Silent	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99753440G>A	ENST00000316937.3	-	9	1434	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	C7orf43_ENST00000457641.1_Silent_p.L148L|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000394035.2_5'UTR|C7orf43_ENST00000419841.1_Silent_p.L185L|C7orf43_ENST00000498638.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	417										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCACACAGCTGCTTTCCT	0.612																																						uc003utr.2																			0					0						c.(1249-1251)CTG>TTG		hypothetical protein LOC55262							41.0	39.0	40.0					7																	99753440		2203	4300	6503	SO:0001819	synonymous_variant	55262							g.chr7:99753440G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1249C>T	7.37:g.99753440G>A						C7orf43_uc010lgo.2_Silent_p.L43L|C7orf43_uc010lgp.2_Silent_p.L39L|C7orf43_uc011kjj.1_Silent_p.L185L|C7orf43_uc003uts.2_Silent_p.L148L	p.L417L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN			9	1429	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		417					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Silent	SNP	ENST00000316937.3	37	c.1249C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660553	0.47572	.	.	ENSG00000146826	ENST00000456769	.	.	.	5.66	4.78	0.61160	.	.	.	.	.	T	0.62159	0.2405	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60515	-0.7248	4	.	.	.	-11.7797	10.5546	0.45110	0.0892:0.0:0.9108:0.0	.	.	.	.	V	322	.	.	A	-	2	0	C7orf43	99591376	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.731000	0.68554	1.397000	0.46682	0.561000	0.74099	GCT		0.612	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275	
ZCWPW1	55063	broad.mit.edu	37	7	99998739	99998739	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99998739C>T	ENST00000398027.2	-	18	2092	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ZCWPW1_ENST00000490721.1_Silent_p.E444E|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000324725.6_Silent_p.E444E	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	615							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGAGTTGCTCCAGGTCCA	0.612																																						uc003uut.2																			0					0						c.(1843-1845)GAG>GAA		zinc finger, CW type with PWWP domain 1							49.0	52.0	51.0					7																	99998739		2026	4199	6225	SO:0001819	synonymous_variant	55063						zinc ion binding	g.chr7:99998739C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1845G>A	7.37:g.99998739C>T						ZCWPW1_uc011kjq.1_Silent_p.E495E|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Silent_p.E444E|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	p.E615E	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			18	2093	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		615					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Silent	SNP	ENST00000398027.2	37	c.1845G>A	CCDS43623.1																																																																																				0.612	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
MUC17	140453	broad.mit.edu	37	7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:100677675C>T	ENST00000306151.4	+	3	3042	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	993	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCCACACGCTGGTGGCC	0.512																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2977-2979)ACG>ATG		mucin 17 precursor							355.0	318.0	331.0					7																	100677675		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677675C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2978C>T	7.37:g.100677675C>T	ENSP00000302716:p.Thr993Met					MUC17_uc010lho.1_RNA	p.T993M	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	3031	+	Lung NSC(181;0.136)|all_lung(186;0.182)		993			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|14.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2978C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.825581	0.00071	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.373	-0.746	0.11095	.	.	.	.	.	T	0.01489	0.0048	L	0.29908	0.895	0.09310	N	1	D	0.54772	0.968	B	0.31812	0.136	T	0.40496	-0.9560	8	0.39692	T	0.17	.	.	.	.	.	993	Q685J3	MUC17_HUMAN	M	993	ENSP00000302716:T993M	ENSP00000302716:T993M	T	+	2	0	MUC17	100464395	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.033000	0.13754	-3.214000	0.00213	-3.604000	0.00028	ACG		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
OR2A25	392138	broad.mit.edu	37	7	143772171	143772171	+	Silent	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:143772171C>T	ENST00000408898.2	+	1	897	c.859C>T	c.(859-861)Cta>Tta	p.L287L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTTAATCCCCTAATTTATAG	0.413																																						uc011ktx.1																			0					0						c.(859-861)CTA>TTA		olfactory receptor, family 2, subfamily A,							187.0	208.0	201.0					7																	143772171		2199	4298	6497	SO:0001819	synonymous_variant	392138				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143772171C>T		CCDS43669.1	7q35	2012-08-09		2004-03-10	ENSG00000221933	ENSG00000221933		"""GPCR / Class A : Olfactory receptors"""	19562	protein-coding gene	gene with protein product				OR2A25P, OR2A27			Standard	NM_001004488		Approved		uc011ktx.2	A4D2G3	OTTHUMG00000158013	ENST00000408898.2:c.859C>T	7.37:g.143772171C>T							p.L287L	NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN			1	859	+	Melanoma(164;0.0783)		287			Helical; Name=7; (Potential).		B2RNC9	Silent	SNP	ENST00000408898.2	37	c.859C>T	CCDS43669.1																																																																																				0.413	OR2A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350000.1		
DEPTOR	64798	broad.mit.edu	37	8	121021282	121021282	+	Silent	SNP	G	G	A	rs544954637		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:121021282G>A	ENST00000286234.5	+	8	1141	c.1011G>A	c.(1009-1011)gcG>gcA	p.A337A	DEPTOR_ENST00000518057.1_3'UTR|DEPTOR_ENST00000523492.1_Silent_p.A236A	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	337	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						TTGGTGACGCGGTTGGCTGGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		16338	0.0		0.001	False		,,,				2504	0.0					uc003yow.3																			0					0						c.(1009-1011)GCG>GCA		DEP domain containing 6							169.0	112.0	132.0					8																	121021282		2203	4300	6503	SO:0001819	synonymous_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:121021282G>A		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.1011G>A	8.37:g.121021282G>A						DEPDC6_uc011lid.1_Silent_p.A236A	p.A337A	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		8	1198	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		337			PDZ.		B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Silent	SNP	ENST00000286234.5	37	c.1011G>A	CCDS6331.1																																																																																				0.542	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	
FAM83H	286077	broad.mit.edu	37	8	144808270	144808270	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:144808270G>A	ENST00000388913.3	-	5	3486	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1121					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCATGCGGCGCAGCAGCCGA	0.677																																						uc003yzk.2																			0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(3361-3363)CGC>TGC		FAM83H							10.0	12.0	12.0					8																	144808270		1999	4132	6131	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808270G>A	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3361C>T	8.37:g.144808270G>A	ENSP00000373565:p.Arg1121Cys					FAM83H_uc010mfk.1_RNA	p.R1121C	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		5	3430	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1121					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3361C>T	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	g	18.97	3.734942	0.69189	.	.	ENSG00000180921	ENST00000388913	T	0.18174	2.23	4.96	4.96	0.65561	.	0.141767	0.30890	U	0.008672	T	0.16938	0.0407	L	0.29908	0.895	0.41222	D	0.986517	D	0.76494	0.999	P	0.47528	0.549	T	0.01074	-1.1460	10	0.87932	D	0	.	11.1612	0.48516	0.0:0.0:0.7037:0.2963	.	1121	Q6ZRV2	FA83H_HUMAN	C	1121	ENSP00000373565:R1121C	ENSP00000373565:R1121C	R	-	1	0	FAM83H	144880258	1.000000	0.71417	0.966000	0.40874	0.919000	0.55068	3.858000	0.55979	2.304000	0.77564	0.556000	0.70494	CGC		0.677	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
TAF1L	138474	broad.mit.edu	37	9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	rs147409173		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:32633525G>A	ENST00000242310.4	-	1	2142	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	685					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R685C(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(2053-2055)CGC>TGC		TBP-associated factor RNA polymerase 1-like		G	CYS/ARG	0,4406		0,0,2203	180.0	164.0	169.0		2053	0.6	1.0	9	dbSNP_134	169	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	685/1827	32633525	1,13005	2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633525G>A	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2053C>T	9.37:g.32633525G>A	ENSP00000418379:p.Arg685Cys					uc003zrh.1_RNA	p.R685C	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2143	-			685					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.2053C>T	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896532	0.72639	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.10288	2.89	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.31949	0.0813	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.09773	-1.0659	10	0.87932	D	0	.	7.0483	0.25059	1.0E-4:0.0:0.9999:0.0	.	685	Q8IZX4	TAF1L_HUMAN	C	685	ENSP00000418379:R685C	ENSP00000418379:R685C	R	-	1	0	TAF1L	32623525	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	3.377000	0.52425	0.632000	0.30432	0.195000	0.17529	CGC		0.448	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
STRBP	55342	broad.mit.edu	37	9	125909182	125909182	+	Silent	SNP	T	T	C			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:125909182T>C	ENST00000348403.5	-	13	1719	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E	STRBP_ENST00000360998.3_Silent_p.E416E|STRBP_ENST00000447404.2_Silent_p.E430E	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	430	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCTGAGGCTTCATATGTTG	0.433																																						uc004bns.2																			0				breast(1)|skin(1)	2						c.(1288-1290)GAA>GAG		spermatid perinuclear RNA binding protein							149.0	136.0	140.0					9																	125909182		2203	4300	6503	SO:0001819	synonymous_variant	55342				multicellular organismal development	cytoplasm|nucleus	DNA binding	g.chr9:125909182T>C	AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.1290A>G	9.37:g.125909182T>C						STRBP_uc004bnt.2_Silent_p.E248E|STRBP_uc004bnu.2_Silent_p.E416E|STRBP_uc004bnv.2_Silent_p.E430E|STRBP_uc004bnr.2_Silent_p.E42E	p.E430E	NM_018387	NP_060857	Q96SI9	STRBP_HUMAN			13	1720	-			430			DRBM 1.		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Silent	SNP	ENST00000348403.5	37	c.1290A>G	CCDS6851.1																																																																																				0.433	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053982.1		
FAM47A	158724	broad.mit.edu	37	X	34150044	34150044	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:34150044C>T	ENST00000346193.3	-	1	403	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	118								p.V118I(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547																																						uc004ddg.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(4)|central_nervous_system(1)	5						c.(352-354)GTA>ATA		hypothetical protein LOC158724							87.0	83.0	85.0					X																	34150044		2202	4300	6502	SO:0001583	missense	158724							g.chrX:34150044C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.352G>A	X.37:g.34150044C>T	ENSP00000345029:p.Val118Ile						p.V118I	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	385	-			118					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.352G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.467786	0.26335	.	.	ENSG00000185448	ENST00000346193	T	0.18502	2.21	1.1	-0.947	0.10382	.	.	.	.	.	T	0.10723	0.0262	L	0.43701	1.375	0.09310	N	1	P	0.36222	0.544	B	0.28385	0.089	T	0.16660	-1.0395	9	0.51188	T	0.08	.	4.0132	0.09632	0.0:0.4843:0.0:0.5157	.	118	Q5JRC9	FA47A_HUMAN	I	118	ENSP00000345029:V118I	ENSP00000345029:V118I	V	-	1	0	FAM47A	34059965	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	-1.188000	0.03064	-0.485000	0.06754	-0.411000	0.06167	GTA		0.547	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
ZNF711	7552	broad.mit.edu	37	X	84526085	84526085	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:84526085G>A	ENST00000373165.3	+	9	1843	c.1537G>A	c.(1537-1539)Ggt>Agt	p.G513S	ZNF711_ENST00000395402.1_Missense_Mutation_p.G521S|ZNF711_ENST00000276123.3_Missense_Mutation_p.G513S|ZNF711_ENST00000542798.1_Missense_Mutation_p.G355S|ZNF711_ENST00000360700.4_Missense_Mutation_p.G559S	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	513					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413																																						uc004eeo.2																			0				ovary(3)|skin(1)	4						c.(1537-1539)GGT>AGT		zinc finger protein 711							87.0	70.0	76.0					X																	84526085		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84526085G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1537G>A	X.37:g.84526085G>A	ENSP00000362260:p.Gly513Ser					ZNF711_uc004eep.2_Missense_Mutation_p.G513S|ZNF711_uc004eeq.2_Missense_Mutation_p.G559S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	p.G513S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			9	1884	+			513			C2H2-type 4.		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.1537G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816636	0.70912	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43919	D	0.000507	T	0.21761	0.0524	N	0.03253	-0.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.99	T	0.47459	-0.9116	10	0.44086	T	0.13	-9.6284	17.9439	0.89034	0.0:0.0:1.0:0.0	.	559;513	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	S	521;513;513;559;355	ENSP00000378798:G521S;ENSP00000362260:G513S;ENSP00000276123:G513S;ENSP00000353922:G559S;ENSP00000442071:G355S	ENSP00000276123:G513S	G	+	1	0	ZNF711	84412741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.171000	0.68590	0.513000	0.50165	GGT		0.413	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998	
