#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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ULK1	8408	broad.mit.edu	37	12	132393503	132393503	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:132393503C>T	ENST00000321867.4	+	7	902	c.551C>T	c.(550-552)tCc>tTc	p.S184F		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	184	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTCTGCGGCTCCCCCATGTAC	0.672																																						ENST00000321867.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29						c.(550-552)tCc>tTc		unc-51 like autophagy activating kinase 1							62.0	59.0	60.0					12																	132393503		2203	4300	6503	SO:0001583	missense	8408				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	g.chr12:132393503C>T	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.551C>T	12.37:g.132393503C>T	ENSP00000324560:p.Ser184Phe						p.S184F	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)	7	902	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		184			Protein kinase.		Q9UQ28	Missense_Mutation	SNP	ENST00000321867.4	37	c.551C>T	CCDS9274.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187500	0.94923	.	.	ENSG00000177169	ENST00000321867;ENST00000537421;ENST00000542313	T;T;D	0.84944	1.59;1.59;-1.92	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94066	0.8098	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94842	0.8006	10	0.87932	D	0	-44.7687	19.3607	0.94436	0.0:1.0:0.0:0.0	.	184	O75385	ULK1_HUMAN	F	184;101;78	ENSP00000324560:S184F;ENSP00000438953:S101F;ENSP00000444983:S78F	ENSP00000324560:S184F	S	+	2	0	ULK1	130959456	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.739000	0.84976	2.651000	0.90000	0.455000	0.32223	TCC		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397769.3			26	102	0	0	0	1	0	26	102				
ASCC3	10973	broad.mit.edu	37	6	101307046	101307046	+	Intron	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:101307046C>T	ENST00000369162.2	-	3	586				ASCC3_ENST00000369143.2_Missense_Mutation_p.D92N|ASCC3_ENST00000522650.1_Intron	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3						cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		tcttttccatccagcctcctc	0.408																																						ENST00000369143.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(274-276)Gat>Aat		activating signal cointegrator 1 complex subunit 3							130.0	120.0	124.0					6																	101307046		2203	4300	6503	SO:0001627	intron_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101307046C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.241+4893G>A	6.37:g.101307046C>T						ASCC3_ENST00000522650.1_Intron|ASCC3_ENST00000369162.2_Intron	p.D92N	NM_022091.3	NP_071374.1	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	4	565	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	0					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.274G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972120	0.53614	.	.	ENSG00000112249	ENST00000369143	.	.	.	1.83	0.946	0.19549	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21821	0.061	B	0.17722	0.019	T	0.28681	-1.0036	7	0.87932	D	0	.	4.3236	0.11029	0.0:0.7924:0.0:0.2076	.	92	Q9H5A2	.	N	92	.	ENSP00000358139:D92N	D	-	1	0	ASCC3	101413767	0.001000	0.12720	0.003000	0.11579	0.996000	0.88848	0.863000	0.27913	0.349000	0.23975	0.557000	0.71058	GAT		0.408	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		24	60	0	0	0	1	0	24	60				
UBE2M	9040	broad.mit.edu	37	19	59067742	59067742	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:59067742C>T	ENST00000253023.3	-	5	930	c.352G>A	c.(352-354)Gac>Aac	p.D118N	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank|CHMP2A_ENST00000601220.1_5'Flank	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	118					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCTTCCAGTCCTCTCTGTGG	0.542																																						ENST00000253023.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5						c.(352-354)Gac>Aac		ubiquitin-conjugating enzyme E2M							64.0	62.0	63.0					19																	59067742		2203	4300	6503	SO:0001583	missense	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59067742C>T	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.352G>A	19.37:g.59067742C>T	ENSP00000253023:p.Asp118Asn						p.D118N	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	5	930	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	118					O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	c.352G>A	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314843	0.81358	.	.	ENSG00000130725	ENST00000253023	T	0.72167	-0.63	4.41	4.41	0.53225	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.071133	0.49916	D	0.000140	T	0.81592	0.4855	M	0.63428	1.95	0.42829	D	0.994014	D	0.89917	1.0	D	0.97110	1.0	D	0.83927	0.0304	10	0.87932	D	0	-28.3383	14.8982	0.70659	0.0:1.0:0.0:0.0	.	118	P61081	UBC12_HUMAN	N	118	ENSP00000253023:D118N	ENSP00000253023:D118N	D	-	1	0	UBE2M	63759554	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.832000	0.62759	2.471000	0.83476	0.655000	0.94253	GAC		0.542	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		9	44	0	0	0	1	0	9	44				
PRICKLE2	166336	broad.mit.edu	37	3	64085134	64085134	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:64085134G>T	ENST00000295902.6	-	8	2713	c.2128C>A	c.(2128-2130)Cgg>Agg	p.R710R	PRICKLE2_ENST00000564377.1_Silent_p.R766R|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	710	Arg-rich.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTTTTAACCGGGAGATGGCC	0.637																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(2128-2130)Cgg>Agg		prickle homolog 2 (Drosophila)							45.0	49.0	48.0					3																	64085134		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64085134G>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.2128C>A	3.37:g.64085134G>T						PRICKLE2_ENST00000564377.1_Silent_p.R766R|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	p.R710R	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	8	2713	-		Lung NSC(201;0.136)	710			Arg-rich.		Q0VF44	Silent	SNP	ENST00000295902.6	37	c.2128C>A	CCDS2902.1																																																																																				0.637	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		19	64	1	0	2.37509e-13	1	2.74473e-13	19	64				
TLDC1	57707	broad.mit.edu	37	16	84529448	84529448	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:84529448C>G	ENST00000343629.6	-	3	407	c.225G>C	c.(223-225)ctG>ctC	p.L75L	TLDC1_ENST00000561807.1_5'UTR|RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000535580.1_Silent_p.L48L	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	75						lysosomal membrane (GO:0005765)											CCTTCCCTGTCAGGTCGACCC	0.562																																						ENST00000343629.6																			0											c.(223-225)ctG>ctC		TBC/LysM-associated domain containing 1							153.0	119.0	130.0					16																	84529448		2200	4300	6500	SO:0001819	synonymous_variant	57707							g.chr16:84529448C>G	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.225G>C	16.37:g.84529448C>G						RP11-517C16.4_ENST00000568771.1_RNA|TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Silent_p.L48L	p.L75L	NM_020947.3	NP_065998.3					3	407	-								Q8IZ64|Q9HCG3|Q9NTE8	Silent	SNP	ENST00000343629.6	37	c.225G>C	CCDS32498.1																																																																																				0.562	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947		30	55	0	0	0	1	0	30	55				
EPHA7	2045	broad.mit.edu	37	6	94120867	94120867	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:94120867C>G	ENST00000369303.4	-	3	368	c.184G>C	c.(184-186)Gat>Cat	p.D62H	EPHA7_ENST00000369297.1_Missense_Mutation_p.D62H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	62	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TAGTTCTCATCCAAACCACTA	0.403																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(184-186)Gat>Cat		EPH receptor A7							84.0	89.0	87.0					6																	94120867		2136	4267	6403	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:94120867C>G	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.184G>C	6.37:g.94120867C>G	ENSP00000358309:p.Asp62His					EPHA7_ENST00000369297.1_Missense_Mutation_p.D62H	p.D62H	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	3	368	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	62					A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.184G>C	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436846	0.83885	.	.	ENSG00000135333	ENST00000369303;ENST00000369297	T;T	0.05996	3.36;3.36	5.51	5.51	0.81932	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.047450	0.85682	D	0.000000	T	0.24736	0.0600	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.999;1.0;1.0	T	0.02766	-1.1113	10	0.87932	D	0	.	19.7654	0.96337	0.0:1.0:0.0:0.0	.	62;62;62;62	Q15375-4;Q15375-3;Q15375-2;Q15375	.;.;.;EPHA7_HUMAN	H	62	ENSP00000358309:D62H;ENSP00000358303:D62H	ENSP00000358303:D62H	D	-	1	0	EPHA7	94177588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.750000	0.94351	0.655000	0.94253	GAT		0.403	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			13	101	0	0	0	1	0	13	101				
ZNF430	80264	broad.mit.edu	37	19	21240151	21240151	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21240151A>T	ENST00000261560.5	+	5	1218	c.1037A>T	c.(1036-1038)aAa>aTa	p.K346I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	346					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCCTACAAATGTGAAGAA	0.403																																						ENST00000261560.5																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1036-1038)aAa>aTa		zinc finger protein 430							58.0	63.0	61.0					19																	21240151		2200	4289	6489	SO:0001583	missense	80264				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21240151A>T	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1037A>T	19.37:g.21240151A>T	ENSP00000261560:p.Lys346Ile						p.K346I	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN			5	1218	+			346					Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	c.1037A>T	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	12.68	2.010453	0.35511	.	.	ENSG00000118620	ENST00000261560	T	0.32988	1.43	1.04	1.04	0.20106	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46678	0.1405	M	0.67700	2.07	0.09310	N	1	D;D	0.89917	0.98;1.0	D;D	0.79108	0.991;0.992	T	0.21348	-1.0248	9	0.66056	D	0.02	.	4.7119	0.12877	0.6736:0.3264:0.0:0.0	.	345;346	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	346	ENSP00000261560:K346I	ENSP00000261560:K346I	K	+	2	0	ZNF430	21031991	0.000000	0.05858	0.362000	0.25862	0.343000	0.28985	-0.387000	0.07361	0.383000	0.24910	0.374000	0.22700	AAA		0.403	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189		41	127	0	0	0	1	0	41	127				
PRDM14	63978	broad.mit.edu	37	8	70980726	70980726	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70980726G>A	ENST00000276594.2	-	3	943	c.742C>T	c.(742-744)Caa>Taa	p.Q248*		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	248					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCTGGAAGTTGAAGGGAGTCT	0.408																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(742-744)Caa>Taa		PR domain containing 14							96.0	93.0	94.0					8																	70980726		2203	4300	6503	SO:0001587	stop_gained	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70980726G>A	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.742C>T	8.37:g.70980726G>A	ENSP00000276594:p.Gln248*						p.Q248*	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		3	943	-	Breast(64;0.193)		248					Q86UX9	Nonsense_Mutation	SNP	ENST00000276594.2	37	c.742C>T	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	G	38	6.814291	0.97857	.	.	ENSG00000147596	ENST00000276594	.	.	.	5.18	3.18	0.36537	.	0.468411	0.16204	N	0.224789	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-6.5361	14.8076	0.69968	0.0:0.0:0.7278:0.2722	.	.	.	.	X	248	.	ENSP00000276594:Q248X	Q	-	1	0	PRDM14	71143280	1.000000	0.71417	0.546000	0.28166	0.968000	0.65278	3.014000	0.49590	1.354000	0.45846	0.591000	0.81541	CAA		0.408	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			22	74	0	0	0	1	0	22	74				
NELFE	7936	broad.mit.edu	37	6	31922531	31922531	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:31922531G>A	ENST00000375429.3	-	7	769	c.543C>T	c.(541-543)tcC>tcT	p.S181S	MIR1236_ENST00000408340.1_RNA|NELFE_ENST00000444811.2_Silent_p.S151S|NELFE_ENST00000375425.5_Silent_p.S188S	NM_002904.5	NP_002895.3	P18615	NELFE_HUMAN	negative elongation factor complex member E	181					gene expression (GO:0010467)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TTCGGGGAGGGGAGGCTGAGG	0.647																																						ENST00000375429.3																			0											c.(541-543)tcC>tcT		negative elongation factor complex member E							47.0	51.0	50.0					6																	31922531		2203	4300	6503	SO:0001819	synonymous_variant	7936							g.chr6:31922531G>A	M33230	CCDS4730.1	6p21.3	2013-02-12	2013-01-31	2013-01-31	ENSG00000204356	ENSG00000204356		"""RNA binding motif (RRM) containing"""	13974	protein-coding gene	gene with protein product		154040	"""RD RNA-binding protein"", ""RD RNA binding protein"""	RDBP			Standard	XM_006715205		Approved	RD, D6S45, NELF-E, RDP	uc003nyk.3	P18615	OTTHUMG00000031046	ENST00000375429.3:c.543C>T	6.37:g.31922531G>A						NELFE_ENST00000444811.2_Silent_p.S151S|NELFE_ENST00000375425.5_Silent_p.S188S	p.S181S	NM_002904.5	NP_002895.3					7	769	-								A2BE08|B4DUN1|B4DYX9|Q5JP74|Q5JP75|Q96F56|Q9NPK2	Silent	SNP	ENST00000375429.3	37	c.543C>T	CCDS4730.1																																																																																				0.647	NELFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076047.4			23	76	0	0	0	1	0	23	76				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		899	Substitution - Missense(899)	p.E545K(881)|p.E545Q(18)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1633-1635)Gag>Aag		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			14	80	0	0	0	1	0	14	80				
KCTD16	57528	broad.mit.edu	37	5	143853480	143853480	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:143853480G>A	ENST00000507359.3	+	3	2181	c.1090G>A	c.(1090-1092)Gac>Aac	p.D364N	KCTD16_ENST00000512467.1_Missense_Mutation_p.D364N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	364					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)		p.D364Y(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GCGGAAAAGCGACTTACTCCG	0.522																																						ENST00000507359.2																			1	Substitution - Missense(1)	p.D364Y(1)	lung(1)	large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21						c.(1090-1092)Gac>Aac		potassium channel tetramerization domain containing 16							63.0	68.0	66.0					5																	143853480		2203	4300	6503	SO:0001583	missense	57528					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr5:143853480G>A	AB037738	CCDS34260.1	5q32	2013-06-20	2013-06-20		ENSG00000183775	ENSG00000183775			29244	protein-coding gene	gene with protein product		613423	"""potassium channel tetramerisation domain containing 16"""			10718198	Standard	NM_020768		Approved	KIAA1317	uc003lnm.1	Q68DU8	OTTHUMG00000163172	ENST00000507359.3:c.1090G>A	5.37:g.143853480G>A	ENSP00000426548:p.Asp364Asn					KCTD16_ENST00000512467.1_Missense_Mutation_p.D364N	p.D364N	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		3	2181	+		all_hematologic(541;0.118)	364					Q9P2M9	Missense_Mutation	SNP	ENST00000507359.3	37	c.1090G>A	CCDS34260.1	.	.	.	.	.	.	.	.	.	.	G	33	5.221432	0.95139	.	.	ENSG00000183775	ENST00000512467;ENST00000507359	T;T	0.45668	0.89;0.89	6.17	6.17	0.99709	.	0.130087	0.51477	D	0.000081	T	0.56673	0.2001	L	0.29908	0.895	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.56306	-0.8001	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	364	Q68DU8	KCD16_HUMAN	N	364	ENSP00000424151:D364N;ENSP00000426548:D364N	ENSP00000426548:D364N	D	+	1	0	KCTD16	143833673	1.000000	0.71417	0.971000	0.41717	0.969000	0.65631	9.363000	0.97131	2.941000	0.99782	0.655000	0.94253	GAC		0.522	KCTD16-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371898.3	XM_098368		30	59	0	0	0	1	0	30	59				
BAGE2	85319	broad.mit.edu	37	21	11058303	11058303	+	RNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058303G>T	ENST00000470054.1	-	0	344							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGCTCCAAAGTGCTTACAAA	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							145.0	106.0	118.0					21																	11058303		692	1591	2283			85319							g.chr21:11058303G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058303G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	344	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	343	1	0	0.00010058	1	0.000105413	11	343				
FAT1	2195	broad.mit.edu	37	4	187628173	187628173	+	Nonsense_Mutation	SNP	G	G	A	rs547340067		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:187628173G>A	ENST00000441802.2	-	2	3018	c.2809C>T	c.(2809-2811)Cga>Tga	p.R937*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	937	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCCTCTCGGACTTTCACA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(2809-2811)Cga>Tga		FAT atypical cadherin 1																																				SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628173G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2809C>T	4.37:g.187628173G>A	ENSP00000406229:p.Arg937*	HNSCC(5;0.00058)					p.R937*	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	3018	-			937			Cadherin 8.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2809C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	43	9.887099	0.99288	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	18.1062	0.89520	0.0:0.0:1.0:0.0	.	.	.	.	X	937	.	ENSP00000260147:R937X	R	-	1	2	FAT1	187865167	1.000000	0.71417	0.994000	0.49952	0.838000	0.47535	6.048000	0.71046	2.579000	0.87056	0.491000	0.48974	CGA		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		44	307	0	0	0	1	0	44	307				
STARD3	10948	broad.mit.edu	37	17	37816726	37816726	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:37816726A>T	ENST00000336308.5	+	11	1119	c.901A>T	c.(901-903)Atc>Ttc	p.I301F	STARD3_ENST00000394250.4_Missense_Mutation_p.I283F|STARD3_ENST00000580611.1_Missense_Mutation_p.I275F|STARD3_ENST00000544210.2_Missense_Mutation_p.I301F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	301	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CCAGGAGGTGATCCTGCAGCC	0.647																																						ENST00000336308.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(901-903)Atc>Ttc		StAR-related lipid transfer (START) domain containing 3							90.0	77.0	81.0					17																	37816726		2203	4300	6503	SO:0001583	missense	10948				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37816726A>T		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.901A>T	17.37:g.37816726A>T	ENSP00000337446:p.Ile301Phe					STARD3_ENST00000544210.2_Missense_Mutation_p.I301F|STARD3_ENST00000580611.1_Missense_Mutation_p.I275F|STARD3_ENST00000394250.4_Missense_Mutation_p.I283F	p.I301F	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		11	1119	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		301			START.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.901A>T	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.120828	0.77436	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250	T;T;T	0.78003	-1.14;-1.14;-1.14	4.81	4.81	0.61882	Lipid-binding START (3);START-like domain (1);	0.124641	0.64402	D	0.000006	T	0.78629	0.4313	N	0.17723	0.515	0.80722	D	1	P;D;B;P;P	0.89917	0.942;1.0;0.122;0.943;0.885	B;D;B;B;B	0.83275	0.409;0.996;0.049;0.436;0.272	T	0.75938	-0.3141	10	0.22706	T	0.39	.	14.5145	0.67809	1.0:0.0:0.0:0.0	.	301;66;301;283;301	F5H0G2;Q59EN9;B4DUY1;A8MXA4;Q14849	.;.;.;.;STAR3_HUMAN	F	301;301;283	ENSP00000337446:I301F;ENSP00000439869:I301F;ENSP00000377794:I283F	ENSP00000337446:I301F	I	+	1	0	STARD3	35070252	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.978000	0.76147	2.037000	0.60232	0.459000	0.35465	ATC		0.647	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			19	49	0	0	0	1	0	19	49				
PPP1R2	5504	broad.mit.edu	37	3	195245854	195245854	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:195245854C>T	ENST00000328432.3	-	5	892	c.532G>A	c.(532-534)Gca>Aca	p.A178T		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	178					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		TCTCCATCTGCAGTCTCTAAC	0.363																																						ENST00000328432.3																			0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(532-534)Gca>Aca		protein phosphatase 1, regulatory (inhibitor) subunit 2							206.0	203.0	204.0					3																	195245854		2203	4298	6501	SO:0001583	missense	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245854C>T	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.532G>A	3.37:g.195245854C>T	ENSP00000328178:p.Ala178Thr						p.A178T	NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	5	892	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		178						Missense_Mutation	SNP	ENST00000328432.3	37	c.532G>A	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	C	8.618	0.890698	0.17613	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	5.15	2.83	0.33086	.	0.652929	0.14733	N	0.301649	T	0.36963	0.0986	L	0.54323	1.7	0.30191	N	0.799497	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	9	0.12430	T	0.62	.	6.9741	0.24664	0.0:0.6342:0.0:0.3657	.	178	P41236	IPP2_HUMAN	T	178;152	.	ENSP00000328178:A178T	A	-	1	0	PPP1R2	196727143	0.908000	0.30866	0.901000	0.35422	0.967000	0.64934	-0.033000	0.12246	0.370000	0.24538	0.467000	0.42956	GCA		0.363	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	NM_006241		56	179	0	0	0	1	0	56	179				
BRSK2	9024	broad.mit.edu	37	11	1475730	1475730	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:1475730C>T	ENST00000528841.1	+	16	1944	c.1560C>T	c.(1558-1560)tcC>tcT	p.S520S	BRSK2_ENST00000308230.5_Silent_p.S542S|BRSK2_ENST00000544817.1_Silent_p.S215S|BRSK2_ENST00000526678.1_Silent_p.S542S|BRSK2_ENST00000382179.1_Silent_p.S566S|BRSK2_ENST00000528710.1_Silent_p.S460S|BRSK2_ENST00000308219.9_Silent_p.S520S|BRSK2_ENST00000531197.1_Silent_p.S520S			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	520					actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGAAGAAGTCCTGGTTTGGGA	0.577																																						ENST00000308219.9																			0				endometrium(4)|large_intestine(1)|lung(5)	10						c.(1558-1560)tcC>tcT		BR serine/threonine kinase 2							56.0	64.0	61.0					11																	1475730		2024	4180	6204	SO:0001819	synonymous_variant	9024				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr11:1475730C>T	AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.1560C>T	11.37:g.1475730C>T						BRSK2_ENST00000382179.1_Silent_p.S566S|BRSK2_ENST00000544817.1_Silent_p.S215S|BRSK2_ENST00000531197.1_Silent_p.S520S|BRSK2_ENST00000308230.5_Silent_p.S542S|BRSK2_ENST00000526678.1_Silent_p.S542S|BRSK2_ENST00000528841.1_Silent_p.S520S|BRSK2_ENST00000528710.1_Silent_p.S460S	p.S520S	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)	16	1946	+		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	520					B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Silent	SNP	ENST00000528841.1	37	c.1560C>T	CCDS58107.1																																																																																				0.577	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393033.1	NM_003957		9	39	0	0	0	1	0	9	39				
MGAM	8972	broad.mit.edu	37	7	141795424	141795424	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:141795424G>C	ENST00000549489.2	+	41	4925	c.4830G>C	c.(4828-4830)caG>caC	p.Q1610H	MGAM_ENST00000475668.2_Missense_Mutation_p.Q2506H	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1610	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGTCCTGCAGACCAGATACA	0.507																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7516-7518)caG>caC		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						174.0	155.0	161.0					7																	141795424		1932	4140	6072	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141795424G>C	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4830G>C	7.37:g.141795424G>C	ENSP00000447378:p.Gln1610His					MGAM_ENST00000549489.2_Missense_Mutation_p.Q1610H	p.Q2506H			O43451	MGA_HUMAN			64	7572	+	Melanoma(164;0.0272)		1610					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7518G>C	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274558	0.23307	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91464	-2.85	5.48	-3.16	0.05217	Glycoside hydrolase, superfamily (1);	.	.	.	.	T	0.80031	0.4549	L	0.31157	0.91	0.23640	N	0.997222	B	0.09022	0.002	B	0.12156	0.007	T	0.64457	-0.6403	9	0.38643	T	0.18	.	1.6985	0.02867	0.1445:0.2697:0.2012:0.3846	.	1610	O43451	MGA_HUMAN	H	1610;2507	ENSP00000447378:Q1610H	ENSP00000373973:Q1610H	Q	+	3	2	MGAM	141441893	0.324000	0.24652	0.861000	0.33841	0.429000	0.31625	0.007000	0.13174	-0.192000	0.10432	-0.136000	0.14681	CAG		0.507	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			45	133	0	0	0	1	0	45	133				
STK11IP	114790	broad.mit.edu	37	2	220473437	220473437	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220473437G>T	ENST00000456909.1	+	15	1826	c.1736G>T	c.(1735-1737)cGa>cTa	p.R579L	STK11IP_ENST00000295641.10_Missense_Mutation_p.R590L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	590	Glu-rich.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTTGGAGCGACTGGAGCTC	0.657																																						ENST00000456909.1																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(1735-1737)cGa>cTa		serine/threonine kinase 11 interacting protein							29.0	33.0	32.0					2																	220473437		1990	4158	6148	SO:0001583	missense	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220473437G>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1736G>T	2.37:g.220473437G>T	ENSP00000389383:p.Arg579Leu					STK11IP_ENST00000295641.10_Missense_Mutation_p.R590L	p.R579L			Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	15	1826	+		Renal(207;0.0183)	590			Glu-rich.		Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	ENST00000456909.1	37	c.1736G>T		.	.	.	.	.	.	.	.	.	.	G	23.8	4.454632	0.84209	.	.	ENSG00000144589	ENST00000456909;ENST00000426736;ENST00000295641	T;T	0.09445	2.99;2.98	4.21	4.21	0.49690	.	0.164085	0.36482	N	0.002580	T	0.30262	0.0759	M	0.67953	2.075	0.46678	D	0.999153	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.03086	-1.1074	10	0.87932	D	0	-22.8113	13.5813	0.61905	0.0:0.0:1.0:0.0	.	558;590;590	B4DUE4;Q8N1F8-2;Q8N1F8	.;.;S11IP_HUMAN	L	579;558;590	ENSP00000389383:R579L;ENSP00000295641:R590L	ENSP00000295641:R590L	R	+	2	0	STK11IP	220181681	0.999000	0.42202	0.976000	0.42696	0.773000	0.43773	2.963000	0.49184	2.178000	0.69098	0.561000	0.74099	CGA		0.657	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902		12	25	1	0	3.07112e-06	1	3.28779e-06	12	25				
OR5D14	219436	broad.mit.edu	37	11	55563209	55563209	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:55563209C>A	ENST00000335605.1	+	1	178	c.178C>A	c.(178-180)Cct>Act	p.P60T		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P60T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATTTCACACTCCTATGTACTT	0.383																																						ENST00000335605.1																			1	Substitution - Missense(1)	p.P60T(1)	kidney(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(178-180)Cct>Act		olfactory receptor, family 5, subfamily D, member 14							225.0	207.0	213.0					11																	55563209		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563209C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.178C>A	11.37:g.55563209C>A	ENSP00000334456:p.Pro60Thr						p.P60T	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	178	+		all_epithelial(135;0.196)	60					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.178C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	15.12	2.738847	0.49045	.	.	ENSG00000186113	ENST00000335605	T	0.02032	4.49	5.08	4.14	0.48551	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000396	T	0.17023	0.0409	H	0.97340	3.985	0.46131	D	0.998883	D	0.60160	0.987	P	0.56563	0.801	T	0.25222	-1.0138	10	0.72032	D	0.01	-22.368	13.3721	0.60719	0.1589:0.8411:0.0:0.0	.	60	Q8NGL3	OR5DE_HUMAN	T	60	ENSP00000334456:P60T	ENSP00000334456:P60T	P	+	1	0	OR5D14	55319785	1.000000	0.71417	0.926000	0.36857	0.165000	0.22458	5.468000	0.66743	1.095000	0.41419	0.643000	0.83706	CCT		0.383	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		8	144	1	0	1.12685e-05	1	1.199e-05	8	144				
GPR50	9248	broad.mit.edu	37	X	150349599	150349599	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:150349599C>T	ENST00000218316.3	+	2	1613	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	515	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CATGCTGAGCCCACCACTGCT	0.612																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1543-1545)cCc>cTc		G protein-coupled receptor 50							76.0	89.0	85.0					X																	150349599		2167	4240	6407	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349599C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1544C>T	X.37:g.150349599C>T	ENSP00000218316:p.Pro515Leu						p.P515L	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1613	+	Acute lymphoblastic leukemia(192;6.56e-05)		515			Pro-rich.		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.1544C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	1.256	-0.617182	0.03663	.	.	ENSG00000102195	ENST00000218316	T	0.74632	-0.86	2.91	1.98	0.26296	.	0.537825	0.17470	N	0.173117	T	0.56292	0.1975	N	0.19112	0.55	0.27983	N	0.935941	B	0.09022	0.002	B	0.04013	0.001	T	0.52682	-0.8543	10	0.87932	D	0	-2.7601	6.8842	0.24191	0.0:0.839:0.0:0.161	.	515	Q13585	MTR1L_HUMAN	L	515	ENSP00000218316:P515L	ENSP00000218316:P515L	P	+	2	0	GPR50	150100257	0.000000	0.05858	0.003000	0.11579	0.122000	0.20287	0.315000	0.19451	0.593000	0.29745	0.523000	0.50628	CCC		0.612	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		51	55	0	0	0	1	0	51	55				
EIF4G1	1981	broad.mit.edu	37	3	184049859	184049859	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184049859T>G	ENST00000346169.2	+	32	4874	c.4603T>G	c.(4603-4605)Tta>Gta	p.L1535V	EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1448V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1340V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1542V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1495V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1449V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1372V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1339V|EIF4G1_ENST00000342981.4_Missense_Mutation_p.L1536V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1371V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1535V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1496V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1542V	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1535	EIF4A-binding.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTAGTGACCTTAGAACAGCC	0.582																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(4606-4608)Tta>Gta		eukaryotic translation initiation factor 4 gamma, 1							46.0	45.0	45.0					3																	184049859		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184049859T>G	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.4603T>G	3.37:g.184049859T>G	ENSP00000316879:p.Leu1535Val					EIF4G1_ENST00000319274.6_Missense_Mutation_p.L1535V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.L1495V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.L1372V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000435046.2_Missense_Mutation_p.L1339V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.L1542V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.L1535V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.L1448V|EIF4G1_ENST00000427845.1_Missense_Mutation_p.L1449V|EIF4G1_ENST00000434061.2_Missense_Mutation_p.L1340V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.L1371V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.L1542V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.L1496V	p.L1536V	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		31	5020	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1535			EIF4A-binding.|W2.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.4606T>G	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	T	18.35	3.604619	0.66445	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	4.67	-0.836	0.10770	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.330886	0.30244	N	0.010074	D	0.88269	0.6391	M	0.82193	2.58	0.46185	D	0.998911	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.63192	0.912;0.912;0.912	D	0.86986	0.2107	10	0.62326	D	0.03	-4.5124	9.9849	0.41835	0.0:0.51:0.0:0.49	.	1542;1536;1535	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	V	1535;1495;1448;1542;1371;1542;1449;1536;1535;1542;1496;1372;1340;1339	ENSP00000316879:L1535V;ENSP00000391935:L1495V;ENSP00000376320:L1448V;ENSP00000371767:L1542V;ENSP00000317600:L1371V;ENSP00000338020:L1542V;ENSP00000407682:L1449V;ENSP00000343450:L1536V;ENSP00000323737:L1535V;ENSP00000416255:L1542V;ENSP00000395974:L1496V;ENSP00000399858:L1372V;ENSP00000411826:L1340V;ENSP00000404754:L1339V	ENSP00000323737:L1535V	L	+	1	2	EIF4G1	185532553	0.965000	0.33210	1.000000	0.80357	0.989000	0.77384	0.338000	0.19858	0.097000	0.17492	0.369000	0.22263	TTA		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		17	85	0	0	0	1	0	17	85				
DAZAP1	26528	broad.mit.edu	37	19	1418713	1418713	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1418713C>T	ENST00000233078.4	+	4	447	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000336761.6_Missense_Mutation_p.R96W	NM_018959.2	NP_061832.2	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	96	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|maternal placenta development (GO:0001893)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGAGAACACGGCCGAAGGA	0.567																																						ENST00000336761.6																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9						c.(286-288)Cgg>Tgg		DAZ associated protein 1							82.0	95.0	90.0					19																	1418713		2203	4300	6503	SO:0001583	missense	26528				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr19:1418713C>T		CCDS12065.1, CCDS12066.1	19p13.3	2013-07-16			ENSG00000071626	ENSG00000071626		"""RNA binding motif (RRM) containing"""	2683	protein-coding gene	gene with protein product	"""deleted in azoospermia associated protein 1"""	607430				10857750, 23658607	Standard	XM_005259530		Approved	MGC19907	uc002lsn.3	Q96EP5		ENST00000233078.4:c.286C>T	19.37:g.1418713C>T	ENSP00000233078:p.Arg96Trp					DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Missense_Mutation_p.R96W	p.R96W	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	4	491	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	96			RRM 1.		Q96MJ3|Q9NRR9	Missense_Mutation	SNP	ENST00000233078.4	37	c.286C>T	CCDS12065.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325741	0.81580	.	.	ENSG00000071626	ENST00000233078;ENST00000336761	D;D	0.85702	-2.02;-2.02	4.85	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.059113	0.64402	D	0.000001	D	0.89483	0.6728	L	0.56280	1.765	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.71870	0.944;0.975	D	0.89949	0.4078	10	0.87932	D	0	.	13.2486	0.60039	0.1602:0.8398:0.0:0.0	.	96;96	Q96EP5;Q96EP5-2	DAZP1_HUMAN;.	W	96	ENSP00000233078:R96W;ENSP00000337132:R96W	ENSP00000233078:R96W	R	+	1	2	DAZAP1	1369713	0.997000	0.39634	0.857000	0.33713	0.974000	0.67602	3.567000	0.53813	0.991000	0.38814	0.491000	0.48974	CGG		0.567	DAZAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449522.3	NM_170711		4	121	0	0	0	1	0	4	121				
APBA1	320	broad.mit.edu	37	9	72073070	72073070	+	Splice_Site	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:72073070A>C	ENST00000265381.4	-	6	1738		c.e6+1		APBA1_ENST00000470082.1_Intron	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1						axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TTTGTACTGCACCTTCTTCCT	0.383																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.e6+1		amyloid beta (A4) precursor protein-binding, family A, member 1							275.0	237.0	249.0					9																	72073070		2203	4300	6503	SO:0001630	splice_region_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72073070A>C	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.1515+1T>G	9.37:g.72073070A>C						APBA1_ENST00000470082.1_Intron		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			6	1738	-								O14914|O60570|Q5VYR8	Splice_Site	SNP	ENST00000265381.4	37		CCDS6630.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330624	0.81690	.	.	ENSG00000107282	ENST00000265381	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0449	0.80714	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	APBA1	71262890	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.160000	0.77495	2.188000	0.69820	0.533000	0.62120	.		0.383	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	Intron	64	61	0	0	0	1	0	64	61				
APOB	338	broad.mit.edu	37	2	21234153	21234153	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:21234153C>G	ENST00000233242.1	-	26	5714	c.5587G>C	c.(5587-5589)Gag>Cag	p.E1863Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1863					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)					TGGCTAAACTCCACACCCTGA	0.438																																						ENST00000233242.1																			0				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						c.(5587-5589)Gag>Cag		apolipoprotein B	Atorvastatin(DB01076)						147.0	138.0	141.0					2																	21234153		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.chr2:21234153C>G	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.5587G>C	2.37:g.21234153C>G	ENSP00000233242:p.Glu1863Gln						p.E1863Q	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5714	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1863					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5587G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437777	0.25900	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00711	5.8	5.58	4.67	0.58626	.	0.369489	0.22692	N	0.056817	T	0.01061	0.0035	L	0.46157	1.445	0.58432	D	0.999999	B	0.22346	0.068	B	0.19148	0.024	T	0.63444	-0.6636	10	0.26408	T	0.33	.	13.0096	0.58724	0.0:0.9178:0.0:0.0822	.	1863	P04114	APOB_HUMAN	Q	1863	ENSP00000233242:E1863Q	ENSP00000233242:E1863Q	E	-	1	0	APOB	21087658	0.925000	0.31364	0.407000	0.26434	0.897000	0.52465	1.874000	0.39568	1.266000	0.44231	0.650000	0.86243	GAG		0.438	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			41	107	0	0	0	1	0	41	107				
LRP1	4035	broad.mit.edu	37	12	57584756	57584756	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:57584756G>C	ENST00000243077.3	+	43	7666	c.7200G>C	c.(7198-7200)aaG>aaC	p.K2400N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2400					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGGACAAGATCGAGCGGT	0.642																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(7198-7200)aaG>aaC		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						83.0	67.0	72.0					12																	57584756		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57584756G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.7200G>C	12.37:g.57584756G>C	ENSP00000243077:p.Lys2400Asn						p.K2400N	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	43	7666	+			2400					Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.7200G>C	CCDS8932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	26.9|26.9	4.782533|4.782533	0.90282|0.90282	.|.	.|.	ENSG00000123384|ENSG00000123384	ENST00000243077|ENST00000554118	D|.	0.96459|.	-4.02|.	4.93|4.93	4.93|4.93	0.64822|0.64822	Six-bladed beta-propeller, TolB-like (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.74183|0.74183	0.3683|0.3683	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D|.	0.56746|.	0.977|.	P|.	0.62014|.	0.897|.	T|T	0.75494|0.75494	-0.3298|-0.3298	10|5	0.42905|.	T|.	0.14|.	.|.	11.2438|11.2438	0.48985|0.48985	0.0878:0.0:0.9122:0.0|0.0878:0.0:0.9122:0.0	.|.	2400|.	Q07954|.	LRP1_HUMAN|.	N|T	2400|86	ENSP00000243077:K2400N|.	ENSP00000243077:K2400N|.	K|R	+|+	3|2	2|0	LRP1|LRP1	55871023|55871023	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.079000|3.079000	0.50104|0.50104	2.560000|2.560000	0.86352|0.86352	0.537000|0.537000	0.68136|0.68136	AAG|AGA		0.642	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		12	34	0	0	0	1	0	12	34				
CCDC136	64753	broad.mit.edu	37	7	128441260	128441260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:128441260G>T	ENST00000297788.4	+	4	734	c.367G>T	c.(367-369)Gag>Tag	p.E123*	CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E123*|CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E173*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E173*	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	123	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTCTCTACGGGAGGAGATTTC	0.473																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(367-369)Gag>Tag		coiled-coil domain containing 136							61.0	59.0	60.0					7																	128441260		1919	4132	6051	SO:0001587	stop_gained	64753					integral to membrane	protein binding	g.chr7:128441260G>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.367G>T	7.37:g.128441260G>T	ENSP00000297788:p.Glu123*					CCDC136_ENST00000464832.1_Nonsense_Mutation_p.E173*|CCDC136_ENST00000487361.1_Nonsense_Mutation_p.E123*|CCDC136_ENST00000378685.4_Nonsense_Mutation_p.E173*	p.E123*	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			4	734	+			123			Glu-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Nonsense_Mutation	SNP	ENST00000297788.4	37	c.367G>T	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	G	38	7.237602	0.98154	.	.	ENSG00000128596	ENST00000485998;ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788;ENST00000397697;ENST00000320524	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-28.2719	17.2136	0.86937	0.0:0.0:1.0:0.0	.	.	.	.	X	123;173;173;123;123;123;123	.	ENSP00000297788:E123X	E	+	1	0	CCDC136	128228496	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	5.977000	0.70492	2.668000	0.90789	0.655000	0.94253	GAG		0.473	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		17	29	1	0	0.00074312	1	0.000771872	17	29				
TOMM70A	9868	broad.mit.edu	37	3	100093991	100093991	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:100093991T>A	ENST00000284320.5	-	7	1546	c.1098A>T	c.(1096-1098)cgA>cgT	p.R366R		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	366					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GAGCATTTGCTCGAAGCTATA	0.398																																						ENST00000284320.5																			0				endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						c.(1096-1098)cgA>cgT		translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)							120.0	120.0	120.0					3																	100093991		2203	4300	6503	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100093991T>A	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.1098A>T	3.37:g.100093991T>A							p.R366R	NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN			7	1546	-			366					D3DN48	Silent	SNP	ENST00000284320.5	37	c.1098A>T	CCDS33807.1																																																																																				0.398	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2			36	185	0	0	0	1	0	36	185				
BSDC1	55108	broad.mit.edu	37	1	32849516	32849516	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:32849516G>A	ENST00000455895.2	-	4	305	c.272C>T	c.(271-273)cCt>cTt	p.P91L	BSDC1_ENST00000446293.2_Missense_Mutation_p.P108L|BSDC1_ENST00000341071.7_Missense_Mutation_p.P108L|BSDC1_ENST00000413080.1_Missense_Mutation_p.P91L|BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000449308.1_Missense_Mutation_p.P91L	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	91										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGGCGAAGGGGCAAAGGT	0.527																																						ENST00000341071.7																			0				breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(322-324)cCt>cTt		BSD domain containing 1							185.0	162.0	170.0					1																	32849516		2203	4300	6503	SO:0001583	missense	55108						protein binding	g.chr1:32849516G>A	BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.272C>T	1.37:g.32849516G>A	ENSP00000412173:p.Pro91Leu					BSDC1_ENST00000419121.2_Intron|BSDC1_ENST00000413080.1_Missense_Mutation_p.P91L|BSDC1_ENST00000449308.1_Missense_Mutation_p.P91L|BSDC1_ENST00000446293.2_Missense_Mutation_p.P108L|BSDC1_ENST00000526031.1_Intron|BSDC1_ENST00000455895.2_Missense_Mutation_p.P91L	p.P108L			Q9NW68	BSDC1_HUMAN			4	334	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	91					B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	ENST00000455895.2	37	c.323C>T	CCDS363.2	.	.	.	.	.	.	.	.	.	.	G	34	5.350027	0.95830	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000325745;ENST00000446293;ENST00000449308;ENST00000527163;ENST00000530485	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.74258	2.255	0.80722	D	1	D;D;D	0.71674	0.998;0.992;0.998	D;D;D	0.72982	0.979;0.971;0.952	T	0.81161	-0.1059	9	0.72032	D	0.01	-14.5696	18.4217	0.90592	0.0:0.0:1.0:0.0	.	108;108;91	Q9NW68-7;Q9NW68-3;Q9NW68	.;.;BSDC1_HUMAN	L	91;91;108;91;108;91;25;52	.	ENSP00000317670:P91L	P	-	2	0	BSDC1	32622103	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	9.689000	0.98673	2.764000	0.94973	0.563000	0.77884	CCT		0.527	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020056.3	NM_018045		30	77	0	0	0	1	0	30	77				
HERC1	8925	broad.mit.edu	37	15	63921014	63921014	+	Splice_Site	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:63921014G>T	ENST00000443617.2	-	70	13054	c.12967C>A	c.(12967-12969)Ctc>Atc	p.L4323I		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4323					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCTAAGCCGAGCTGGGAATAA	0.438																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.e70-1		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							115.0	109.0	111.0					15																	63921014		1868	4110	5978	SO:0001630	splice_region_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63921014G>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.12967-1C>A	15.37:g.63921014G>T							p.L4323_splice	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			70	13054	-			4323					Q8IW65	Splice_Site	SNP	ENST00000443617.2	37	c.12966_splice	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755540	0.69648	.	.	ENSG00000103657	ENST00000443617	D	0.97232	-4.3	5.89	5.89	0.94794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.64402	D	0.000003	D	0.98745	0.9578	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.99129	1.0852	10	0.66056	D	0.02	.	20.2469	0.98398	0.0:0.0:1.0:0.0	.	4323	Q15751	HERC1_HUMAN	I	4323	ENSP00000390158:L4323I	ENSP00000390158:L4323I	L	-	1	0	HERC1	61708067	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	9.869000	0.99810	2.781000	0.95711	0.555000	0.69702	CTC		0.438	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	Missense_Mutation	21	86	1	0	1.10513e-12	1	1.26456e-12	21	86				
OR8B4	283162	broad.mit.edu	37	11	124294407	124294407	+	Missense_Mutation	SNP	G	G	A	rs371189371		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294407G>A	ENST00000356130.3	-	1	382	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GCCACATAGCGATCATAGGCC	0.453																																						ENST00000356130.3																			0				endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(361-363)Cgc>Tgc		olfactory receptor, family 8, subfamily B, member 4		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	104.0	100.0	101.0		361	3.7	1.0	11		101	0,8598		0,0,4299	no	missense	OR8B4	NM_001005196.1	180	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	121/310	124294407	1,12999	2201	4299	6500	SO:0001583	missense	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294407G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.361C>T	11.37:g.124294407G>A	ENSP00000348449:p.Arg121Cys						p.R121C	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	382	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	121					B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	c.361C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	14.17	2.454033	0.43634	2.27E-4	0.0	ENSG00000198657	ENST00000356130	T	0.77358	-1.09	4.62	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.120943	0.37906	N	0.001883	T	0.73048	0.3537	M	0.75615	2.305	0.53688	D	0.999971	P	0.40534	0.72	B	0.30572	0.117	T	0.77413	-0.2597	10	0.66056	D	0.02	.	13.02	0.58781	0.0796:0.0:0.9204:0.0	.	121	Q96RC9	OR8B4_HUMAN	C	121	ENSP00000348449:R121C	ENSP00000348449:R121C	R	-	1	0	OR8B4	123799617	0.984000	0.35163	1.000000	0.80357	0.917000	0.54804	1.356000	0.34079	1.309000	0.44985	0.655000	0.94253	CGC		0.453	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		37	65	0	0	0	1	0	37	65				
FRAS1	80144	broad.mit.edu	37	4	79434693	79434693	+	Silent	SNP	G	G	C	rs373938079		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:79434693G>C	ENST00000264895.6	+	65	10601	c.10161G>C	c.(10159-10161)ctG>ctC	p.L3387L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3383					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTATGACCTGAGAGGCATCT	0.468																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(10159-10161)ctG>ctC		Fraser syndrome 1							152.0	145.0	147.0					4																	79434693		2007	4176	6183	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79434693G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.10161G>C	4.37:g.79434693G>C							p.L3387L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			65	10601	+			3382					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000264895.6	37	c.10161G>C	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	6.420	0.445560	0.12164	.	.	ENSG00000138759	ENST00000512123	.	.	.	5.44	2.77	0.32553	.	.	.	.	.	T	0.43456	0.1248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	.	1.6378	0.02746	0.1499:0.2342:0.3589:0.257	.	.	.	.	Q	1616	.	.	E	+	1	0	FRAS1	79653717	0.692000	0.27719	0.995000	0.50966	0.895000	0.52256	0.158000	0.16422	0.260000	0.21731	0.467000	0.42956	GAG		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				40	130	0	0	0	1	0	40	130				
ETNPPL	64850	broad.mit.edu	37	4	109669202	109669202	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:109669202C>T	ENST00000296486.3	-	9	1195	c.1041G>A	c.(1039-1041)ctG>ctA	p.L347L	ETNPPL_ENST00000411864.2_Silent_p.L341L|ETNPPL_ENST00000510706.1_Silent_p.L307L|ETNPPL_ENST00000512646.1_Silent_p.L289L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2	Q8TBG4	AT2L1_HUMAN	ethanolamine-phosphate phospho-lyase	347						mitochondrion (GO:0005739)	ethanolamine-phosphate phospho-lyase activity (GO:0050459)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)										TCTGTTTTTTCAGTAACTCAG	0.333																																						ENST00000296486.3																			0											c.(1039-1041)ctG>ctA		ethanolamine-phosphate phospho-lyase							175.0	171.0	172.0					4																	109669202		2203	4300	6503	SO:0001819	synonymous_variant	64850							g.chr4:109669202C>T	AJ298293	CCDS3682.1, CCDS54792.1, CCDS54793.1	4q25	2013-06-12	2013-06-12	2013-06-12	ENSG00000164089	ENSG00000164089	4.2.3.2		14404	protein-coding gene	gene with protein product		614682	"""alanine-glyoxylate aminotransferase 2-like 1"""	AGXT2L1		7592550, 22241472	Standard	NM_031279		Approved		uc003hzc.3	Q8TBG4	OTTHUMG00000161036	ENST00000296486.3:c.1041G>A	4.37:g.109669202C>T						ETNPPL_ENST00000510706.1_Silent_p.L307L|ETNPPL_ENST00000512646.1_Silent_p.L289L|ETNPPL_ENST00000411864.2_Silent_p.L341L	p.L347L	NM_001146590.1|NM_031279.3	NP_001140062.1|NP_112569.2					9	1195	-								B7Z1Y0|E9PBY0|Q9H174	Silent	SNP	ENST00000296486.3	37	c.1041G>A	CCDS3682.1																																																																																				0.333	ETNPPL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363508.1	NM_031279		20	70	0	0	0	1	0	20	70				
SPTA1	6708	broad.mit.edu	37	1	158604344	158604344	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158604344C>A	ENST00000368147.4	-	39	5734	c.5554G>T	c.(5554-5556)Gct>Tct	p.A1852S		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1852					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGTAGCAGCTAATGTATCT	0.393																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(5554-5556)Gct>Tct		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							196.0	178.0	184.0					1																	158604344		1929	4138	6067	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158604344C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5554G>T	1.37:g.158604344C>A	ENSP00000357129:p.Ala1852Ser					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A1852S	p.A1852S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			39	5734	-	all_hematologic(112;0.0378)		1852					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.5554G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.11	2.137988	0.37728	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.49720	0.77;0.77	5.64	2.64	0.31445	.	0.000000	0.32120	N	0.006555	T	0.22513	0.0543	L	0.58428	1.81	0.42482	D	0.992865	B	0.25850	0.136	B	0.31751	0.135	T	0.05194	-1.0900	10	0.19147	T	0.46	.	5.8415	0.18637	0.1345:0.6396:0.1454:0.0805	.	1852	P02549	SPTA1_HUMAN	S	1852	ENSP00000357130:A1852S;ENSP00000357129:A1852S	ENSP00000357129:A1852S	A	-	1	0	SPTA1	156870968	1.000000	0.71417	0.995000	0.50966	0.905000	0.53344	2.549000	0.45803	0.930000	0.37217	0.650000	0.86243	GCT		0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		33	150	1	0	4.14481e-20	1	4.97092e-20	33	150				
VPS13C	54832	broad.mit.edu	37	15	62182551	62182551	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62182551C>G	ENST00000261517.5	-	67	9227	c.9154G>C	c.(9154-9156)Gta>Cta	p.V3052L	VPS13C_ENST00000395896.4_Missense_Mutation_p.V3052L|VPS13C_ENST00000395898.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V3009L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AGAAATGATACCCAGTGTATC	0.423																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9154-9156)Gta>Cta		vacuolar protein sorting 13 homolog C (S. cerevisiae)							65.0	58.0	60.0					15																	62182551		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62182551C>G	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9154G>C	15.37:g.62182551C>G	ENSP00000261517:p.Val3052Leu					VPS13C_ENST00000395898.3_Missense_Mutation_p.V3009L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V3052L|VPS13C_ENST00000249837.3_Missense_Mutation_p.V3009L	p.V3052L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			67	9227	-			3052						Missense_Mutation	SNP	ENST00000261517.5	37	c.9154G>C	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867497	0.91587	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.50548	0.74;0.74;0.74	5.5	5.5	0.81552	.	0.065125	0.64402	D	0.000011	T	0.70859	0.3272	M	0.80616	2.505	0.80722	D	1	D;D;D;P	0.59357	0.969;0.985;0.985;0.931	P;P;D;P	0.66351	0.877;0.814;0.943;0.667	T	0.72766	-0.4194	10	0.52906	T	0.07	.	19.4029	0.94637	0.0:1.0:0.0:0.0	.	3009;3052;3009;3052	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	3009;3052;3052;3052	ENSP00000249837:V3009L;ENSP00000261517:V3052L;ENSP00000379233:V3052L	ENSP00000249837:V3009L	V	-	1	0	VPS13C	59969843	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.587000	0.67510	2.571000	0.86741	0.655000	0.94253	GTA		0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		26	47	0	0	0	1	0	26	47				
PCDHB5	26167	broad.mit.edu	37	5	140516046	140516046	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140516046C>G	ENST00000231134.5	+	1	1247	c.1030C>G	c.(1030-1032)Cct>Gct	p.P344A		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	344	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACAACGCCCCTGAACTCAC	0.498																																						ENST00000231134.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81						c.(1030-1032)Cct>Gct									114.0	121.0	118.0					5																	140516046		2203	4300	6503	SO:0001583	missense	26167				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140516046C>G	AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1030C>G	5.37:g.140516046C>G	ENSP00000231134:p.Pro344Ala						p.P344A	NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1247	+			344			Cadherin 3.		Q549F4|Q9UFU9	Missense_Mutation	SNP	ENST00000231134.5	37	c.1030C>G	CCDS4247.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776908	0.49786	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	T	0.81330	-1.48	5.3	5.3	0.74995	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.93562	0.7945	H	0.96777	3.88	0.48040	D	0.999573	D	0.89917	1.0	D	0.80764	0.994	D	0.95386	0.8477	9	0.87932	D	0	.	19.311	0.94187	0.0:1.0:0.0:0.0	.	344	Q9Y5E4	PCDB5_HUMAN	A	344;128	ENSP00000231134:P344A	ENSP00000231134:P344A	P	+	1	0	PCDHB5	140496230	1.000000	0.71417	0.949000	0.38748	0.171000	0.22731	7.776000	0.85560	2.648000	0.89879	0.505000	0.49811	CCT		0.498	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251811.1	NM_015669		6	153	0	0	0	1	0	6	153				
ZBTB4	57659	broad.mit.edu	37	17	7366892	7366892	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7366892G>C	ENST00000311403.4	-	4	1748	c.1409C>G	c.(1408-1410)tCt>tGt	p.S470C	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S470C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	470	Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AGTGATGACAGAGGGTGGAGG	0.672																																						ENST00000311403.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36						c.(1408-1410)tCt>tGt		zinc finger and BTB domain containing 4							23.0	27.0	25.0					17																	7366892		2202	4296	6498	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7366892G>C	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.1409C>G	17.37:g.7366892G>C	ENSP00000307858:p.Ser470Cys					ZBTB4_ENST00000380599.4_Missense_Mutation_p.S470C	p.S470C	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	1748	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	470			Pro-rich.		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.1409C>G	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778617	0.31502	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.38560	1.13;1.13	4.86	4.86	0.63082	.	0.379905	0.23343	N	0.049206	T	0.39835	0.1093	N	0.08118	0	0.26607	N	0.972919	D	0.76494	0.999	P	0.61328	0.887	T	0.31833	-0.9929	10	0.59425	D	0.04	-10.0968	12.6186	0.56590	0.0:0.0:0.8335:0.1665	.	470	Q9P1Z0	ZBTB4_HUMAN	C	470	ENSP00000307858:S470C;ENSP00000369973:S470C	ENSP00000307858:S470C	S	-	2	0	ZBTB4	7307616	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.671000	0.54576	2.542000	0.85734	0.456000	0.33151	TCT		0.672	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		19	25	0	0	0	1	0	19	25				
VPS8	23355	broad.mit.edu	37	3	184648306	184648306	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184648306A>T	ENST00000437079.3	+	34	3019	c.2848A>T	c.(2848-2850)Agt>Tgt	p.S950C	VPS8_ENST00000287546.4_Missense_Mutation_p.S950C|VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.S948C|VPS8_ENST00000446204.2_Missense_Mutation_p.S858C	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	950							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			TCCCGGACACAGTGCAGAGGA	0.388																																						ENST00000287546.4																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2848-2850)Agt>Tgt		vacuolar protein sorting 8 homolog (S. cerevisiae)							178.0	169.0	172.0					3																	184648306		1983	4165	6148	SO:0001583	missense	23355						zinc ion binding	g.chr3:184648306A>T	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	ENST00000437079.3:c.2848A>T	3.37:g.184648306A>T	ENSP00000397879:p.Ser950Cys					VPS8_ENST00000463687.1_3'UTR|VPS8_ENST00000436792.2_Missense_Mutation_p.S948C|VPS8_ENST00000446204.2_Missense_Mutation_p.S858C|VPS8_ENST00000437079.3_Missense_Mutation_p.S950C	p.S950C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		33	3019	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		950					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Missense_Mutation	SNP	ENST00000437079.3	37	c.2848A>T	CCDS46971.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482366	0.84747	.	.	ENSG00000156931	ENST00000287546;ENST00000437079;ENST00000436792;ENST00000446204	T;T;T;T	0.21191	2.02;2.02;2.02;2.03	5.9	5.9	0.94986	Quinonprotein alcohol dehydrogenase-like (1);	0.039737	0.85682	D	0.000000	T	0.45236	0.1332	M	0.68593	2.085	0.58432	D	0.999999	P;D;P	0.71674	0.677;0.998;0.739	B;D;P	0.69654	0.28;0.965;0.494	T	0.38908	-0.9639	10	0.66056	D	0.02	-18.4235	16.0056	0.80359	1.0:0.0:0.0:0.0	.	950;858;948	Q8N3P4;Q8N3P4-2;Q8N3P4-3	VPS8_HUMAN;.;.	C	950;950;948;858	ENSP00000287546:S950C;ENSP00000397879:S950C;ENSP00000404704:S948C;ENSP00000405483:S858C	ENSP00000287546:S950C	S	+	1	0	VPS8	186131000	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.702000	0.74628	2.251000	0.74343	0.528000	0.53228	AGT		0.388	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015303		7	144	0	0	0	1	0	7	144				
EXTL3	2137	broad.mit.edu	37	8	28573738	28573738	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:28573738G>T	ENST00000220562.4	+	3	1064	c.162G>T	c.(160-162)ctG>ctT	p.L54L	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	54					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCACCACTCTGGATGAGGCTG	0.602																																						ENST00000220562.4																			0				biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36						c.(160-162)ctG>ctT		exostosin-like glycosyltransferase 3							132.0	107.0	115.0					8																	28573738		2203	4300	6503	SO:0001819	synonymous_variant	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573738G>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.162G>T	8.37:g.28573738G>T						EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	p.L54L	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	1064	+		Ovarian(32;0.069)	54					D3DST8|O00225|Q53XT3	Silent	SNP	ENST00000220562.4	37	c.162G>T	CCDS6070.1																																																																																				0.602	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		6	72	1	0	3.59834e-05	1	3.80551e-05	6	72				
CA1	759	broad.mit.edu	37	8	86240821	86240821	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:86240821G>A	ENST00000523953.1	-	9	1800	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	CA1_ENST00000542576.1_Silent_p.L252L|CA1_ENST00000522389.1_Silent_p.L118L|CA1_ENST00000256119.5_Silent_p.L252L|CA1_ENST00000523022.1_Silent_p.L252L|CA1_ENST00000431316.1_Silent_p.L252L|CA1_ENST00000432364.2_Silent_p.L252L			P00915	CAH1_HUMAN	carbonic anhydrase I	252					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CTGCCCTTCAGAGGTTGGGTT	0.448																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(754-756)Ctg>Ttg		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						145.0	135.0	138.0					8																	86240821		2203	4300	6503	SO:0001819	synonymous_variant	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86240821G>A	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.754C>T	8.37:g.86240821G>A						CA1_ENST00000522389.1_Silent_p.L118L|CA1_ENST00000432364.2_Silent_p.L252L|CA1_ENST00000431316.1_Silent_p.L252L|CA1_ENST00000523022.1_Silent_p.L252L|CA1_ENST00000256119.5_Silent_p.L252L|CA1_ENST00000542576.1_Silent_p.L252L	p.L252L			P00915	CAH1_HUMAN			9	1800	-		all_lung(136;4.89e-06)	252						Silent	SNP	ENST00000523953.1	37	c.754C>T	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	G	4.221	0.039830	0.08148	.	.	ENSG00000133742	ENST00000521679	.	.	.	4.65	1.72	0.24424	.	.	.	.	.	T	0.52075	0.1712	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39482	-0.9612	4	.	.	.	-1.5699	5.5113	0.16882	0.1741:0.3164:0.5095:0.0	.	.	.	.	F	168	.	.	S	-	2	0	CA1	86428073	0.595000	0.26857	0.996000	0.52242	0.418000	0.31294	0.768000	0.26590	0.359000	0.24239	-0.156000	0.13503	TCT		0.448	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		31	110	0	0	0	1	0	31	110				
MXRA8	54587	broad.mit.edu	37	1	1290669	1290669	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1290669G>C	ENST00000309212.6	-	4	463	c.433C>G	c.(433-435)Cac>Gac	p.H145D	MXRA8_ENST00000445648.2_Missense_Mutation_p.H145D|MXRA8_ENST00000342753.4_Missense_Mutation_p.H44D|MXRA8_ENST00000477278.2_Missense_Mutation_p.H136D	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	145	Ig-like V-type 1.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTAGAGGTGGCAGTAGTGA	0.726																																						ENST00000309212.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7						c.(433-435)Cac>Gac		matrix-remodelling associated 8							37.0	30.0	32.0					1																	1290669		2198	4293	6491	SO:0001583	missense	54587					integral to membrane		g.chr1:1290669G>C	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.433C>G	1.37:g.1290669G>C	ENSP00000307887:p.His145Asp					MXRA8_ENST00000445648.2_Missense_Mutation_p.H145D|MXRA8_ENST00000342753.4_Missense_Mutation_p.H44D	p.H145D	NM_032348.2	NP_115724.1	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	4	463	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	145			Ig-like V-type 1.		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.433C>G	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	14.84	2.655323	0.47467	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.78924	-0.1;-1.22;-0.1	3.88	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.102926	0.64402	D	0.000003	D	0.84361	0.5455	M	0.61703	1.905	0.50632	D	0.999887	P;D;D;P;P	0.89917	0.611;0.999;1.0;0.557;0.458	B;D;D;B;B	0.87578	0.406;0.991;0.998;0.283;0.406	T	0.81996	-0.0676	10	0.33141	T	0.24	-21.7252	12.7637	0.57380	0.0:0.1662:0.8338:0.0	.	136;44;145;145;145	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	D	145;136;44;145	ENSP00000307887:H145D;ENSP00000344998:H44D;ENSP00000399229:H145D	ENSP00000307887:H145D	H	-	1	0	MXRA8	1280532	1.000000	0.71417	0.999000	0.59377	0.242000	0.25591	3.382000	0.52463	0.710000	0.31997	0.313000	0.20887	CAC		0.726	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		5	33	0	0	0	1	0	5	33				
ERMN	57471	broad.mit.edu	37	2	158177960	158177960	+	Silent	SNP	G	G	T	rs377398423		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177960G>T	ENST00000410096.1	-	3	969	c.678C>A	c.(676-678)tcC>tcA	p.S226S	ERMN_ENST00000535935.1_Silent_p.S120S|ERMN_ENST00000397283.2_Silent_p.S239S|ERMN_ENST00000420719.2_Silent_p.S206S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	226					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGCTCAGTGGGGAGTCCTCAC	0.408																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(676-678)tcC>tcA		ermin, ERM-like protein							174.0	175.0	175.0					2																	158177960		1989	4182	6171	SO:0001819	synonymous_variant	57471					cytoplasm|cytoskeleton		g.chr2:158177960G>T	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.678C>A	2.37:g.158177960G>T						ERMN_ENST00000420719.2_Silent_p.S206S|ERMN_ENST00000397283.2_Silent_p.S239S|ERMN_ENST00000535935.1_Silent_p.S120S	p.S226S	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	969	-			226					B4DKA6|Q9ULN1	Silent	SNP	ENST00000410096.1	37	c.678C>A	CCDS46431.1																																																																																				0.408	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		46	182	1	0	6.31075e-24	1	7.70088e-24	46	182				
KCNG1	3755	broad.mit.edu	37	20	49620923	49620923	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:49620923C>T	ENST00000371571.4	-	3	1480	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	KCNG1_ENST00000506387.1_5'UTR|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	399					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATCTCGTTCTCGATGACGTAG	0.667																																						ENST00000371571.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1195-1197)Gag>Aag		potassium voltage-gated channel, subfamily G, member 1							42.0	41.0	41.0					20																	49620923		2203	4300	6503	SO:0001583	missense	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49620923C>T	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.1195G>A	20.37:g.49620923C>T	ENSP00000360626:p.Glu399Lys					RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	p.E399K	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN			3	1480	-			399					A8K3S4|O43528|Q5JXL5|Q9BRC1	Missense_Mutation	SNP	ENST00000371571.4	37	c.1195G>A	CCDS13436.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764343	0.89932	.	.	ENSG00000026559	ENST00000371571	D	0.98717	-5.09	5.49	5.49	0.81192	Ion transport (1);	0.045124	0.85682	D	0.000000	D	0.99521	0.9829	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	9	.	.	.	.	19.3567	0.94418	0.0:1.0:0.0:0.0	.	399	Q9UIX4	KCNG1_HUMAN	K	399	ENSP00000360626:E399K	.	E	-	1	0	KCNG1	49054330	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	7.773000	0.85462	2.578000	0.87016	0.462000	0.41574	GAG		0.667	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		16	48	0	0	0	1	0	16	48				
GJA10	84694	broad.mit.edu	37	6	90605716	90605716	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:90605716T>C	ENST00000369352.1	+	1	1529	c.1529T>C	c.(1528-1530)gTg>gCg	p.V510A	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCCTGGGGTGTGTATGTAT	0.393																																						ENST00000369352.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37						c.(1528-1530)gTg>gCg		gap junction protein, alpha 10, 62kDa							67.0	70.0	69.0					6																	90605716		2203	4300	6503	SO:0001583	missense	84694				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr6:90605716T>C	AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1529T>C	6.37:g.90605716T>C	ENSP00000358358:p.Val510Ala						p.V510A	NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0915)	1	1529	+		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)	510					B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	c.1529T>C	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	T	7.263	0.605496	0.14002	.	.	ENSG00000135355	ENST00000369352	D	0.97906	-4.6	1.67	1.67	0.24075	.	.	.	.	.	D	0.85725	0.5763	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.81226	-0.1029	9	0.59425	D	0.04	.	5.2729	0.15634	0.0:0.0:0.0:1.0	.	510	Q969M2	CXA10_HUMAN	A	510	ENSP00000358358:V510A	ENSP00000358358:V510A	V	+	2	0	GJA10	90662437	0.000000	0.05858	0.010000	0.14722	0.075000	0.17131	0.073000	0.14640	0.737000	0.32582	0.379000	0.24179	GTG		0.393	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602		5	54	0	0	0	1	0	5	54				
GRIA3	2892	broad.mit.edu	37	X	122528858	122528858	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:122528858G>A	ENST00000371251.1	+	6	842	c.790G>A	c.(790-792)Gga>Aga	p.G264R	GRIA3_ENST00000542149.1_Missense_Mutation_p.G264R|GRIA3_ENST00000264357.5_Missense_Mutation_p.G264R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264R|GRIA3_ENST00000541091.1_Missense_Mutation_p.G248R			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	264					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	CATGCATGGGGGAGCCAACAT	0.428																																						ENST00000264357.5																			0				breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57						c.(790-792)Gga>Aga		glutamate receptor, ionotropic, AMPA 3	L-Glutamic Acid(DB00142)						115.0	104.0	107.0					X																	122528858		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122528858G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.790G>A	X.37:g.122528858G>A	ENSP00000360297:p.Gly264Arg					GRIA3_ENST00000541091.1_Missense_Mutation_p.G248R|GRIA3_ENST00000371256.5_Missense_Mutation_p.G264R|GRIA3_ENST00000371251.1_Missense_Mutation_p.G264R|GRIA3_ENST00000542149.1_Missense_Mutation_p.G264R	p.G264R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN			6	1082	+			264					D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.790G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893996	0.52121	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.52	5.52	0.82312	Extracellular ligand-binding receptor (1);	0.096556	0.64402	D	0.000001	D	0.89763	0.6809	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.90617	0.4556	10	0.87932	D	0	.	17.5067	0.87748	0.0:0.0:1.0:0.0	.	248;264;264	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	R	264;264;264;264;248	ENSP00000264357:G264R;ENSP00000446146:G264R;ENSP00000360302:G264R;ENSP00000360297:G264R;ENSP00000446440:G248R	ENSP00000264357:G264R	G	+	1	0	GRIA3	122356539	1.000000	0.71417	0.998000	0.56505	0.006000	0.05464	9.813000	0.99286	2.436000	0.82500	0.594000	0.82650	GGA		0.428	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		50	49	0	0	0	1	0	50	49				
ZNF679	168417	broad.mit.edu	37	7	63726351	63726351	+	Silent	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:63726351A>C	ENST00000421025.1	+	5	609	c.340A>C	c.(340-342)Aga>Cga	p.R114R	ZNF679_ENST00000255746.4_Silent_p.R114R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATACCAAGAAGATATGGAAA	0.368																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.(340-342)Aga>Cga		zinc finger protein 679							145.0	123.0	130.0					7																	63726351		692	1591	2283	SO:0001819	synonymous_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63726351A>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.340A>C	7.37:g.63726351A>C						ZNF679_ENST00000255746.4_Silent_p.R114R	p.R114R	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			5	609	+			114						Silent	SNP	ENST00000421025.1	37	c.340A>C	CCDS47592.1																																																																																				0.368	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363		12	45	0	0	0	1	0	12	45				
AFG3L2	10939	broad.mit.edu	37	18	12358916	12358916	+	Missense_Mutation	SNP	G	G	A	rs374353312		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:12358916G>A	ENST00000269143.3	-	8	1010	c.779C>T	c.(778-780)aCg>aTg	p.T260M		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	260					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GATGAGCACCGTAGGCAGCAT	0.572																																						ENST00000269143.3																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27						c.(778-780)aCg>aTg		AFG3-like AAA ATPase 2	Adenosine triphosphate(DB00171)	G	MET/THR	0,4406		0,0,2203	41.0	38.0	39.0		779	5.4	0.9	18		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	AFG3L2	NM_006796.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	260/798	12358916	1,13005	2203	4300	6503	SO:0001583	missense	10939				cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr18:12358916G>A	Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.779C>T	18.37:g.12358916G>A	ENSP00000269143:p.Thr260Met						p.T260M	NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN			8	1010	-			260					Q6P1L0	Missense_Mutation	SNP	ENST00000269143.3	37	c.779C>T	CCDS11859.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767232	0.69878	0.0	1.16E-4	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.93953	-3.32	5.45	5.45	0.79879	Peptidase M41, FtsH (2);	0.133864	0.64402	D	0.000002	D	0.93864	0.8037	L	0.35542	1.07	0.80722	D	1	D	0.71674	0.998	P	0.58520	0.84	D	0.93997	0.7272	10	0.51188	T	0.08	-0.2479	19.2802	0.94050	0.0:0.0:1.0:0.0	.	260	Q9Y4W6	AFG32_HUMAN	M	260;275	ENSP00000269143:T260M	ENSP00000269143:T260M	T	-	2	0	AFG3L2	12348916	1.000000	0.71417	0.871000	0.34182	0.100000	0.18952	9.452000	0.97615	2.547000	0.85894	0.563000	0.77884	ACG		0.572	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254603.2	NM_006796		7	25	0	0	0	1	0	7	25				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			7	254	0	0	0	1	0	7	254				
ZNF438	220929	broad.mit.edu	37	10	31138152	31138152	+	Missense_Mutation	SNP	C	C	G	rs188022216		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:31138152C>G	ENST00000361310.3	-	6	1511	c.1182G>C	c.(1180-1182)ttG>ttC	p.L394F	ZNF438_ENST00000538351.2_Missense_Mutation_p.L345F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L394F|ZNF438_ENST00000331737.6_Missense_Mutation_p.L384F|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000436087.2_Missense_Mutation_p.L394F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L394F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L384F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L384F			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	394					negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CCTGAAATGCCAAAATTTCAT	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23350	0.0		0.0	False		,,,				2504	0.0					ENST00000538351.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1033-1035)ttG>ttC		zinc finger protein 438							96.0	95.0	96.0					10																	31138152		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138152C>G	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.1182G>C	10.37:g.31138152C>G	ENSP00000354663:p.Leu394Phe					ZNF438_ENST00000331737.6_Missense_Mutation_p.L384F|ZNF438_ENST00000436087.2_Missense_Mutation_p.L394F|ZNF438_ENST00000442986.1_Missense_Mutation_p.L394F|ZNF438_ENST00000452305.1_Missense_Mutation_p.L384F|ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.L394F|ZNF438_ENST00000413025.1_Missense_Mutation_p.L394F|ZNF438_ENST00000444692.2_Missense_Mutation_p.L384F	p.L345F	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN			7	1789	-		Prostate(175;0.0587)	394					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.1035G>C	CCDS7168.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.53	2.563348	0.45694	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351;ENST00000430896	T;T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.73	2.82	0.32997	.	0.209813	0.43110	D	0.000616	T	0.31263	0.0791	M	0.72894	2.215	0.45676	D	0.998594	D;D	0.89917	1.0;1.0	D;D	0.79108	0.982;0.992	T	0.01068	-1.1462	10	0.59425	D	0.04	-0.7264	7.9535	0.30029	0.0:0.729:0.1346:0.1364	.	394;384	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	F	384;394;394;394;394;384;384;345;113	ENSP00000333571:L384F;ENSP00000354663:L394F;ENSP00000406934:L394F;ENSP00000412363:L394F;ENSP00000387546:L394F;ENSP00000413060:L384F;ENSP00000410898:L384F;ENSP00000445461:L345F	ENSP00000333571:L384F	L	-	3	2	ZNF438	31178158	0.975000	0.34042	0.001000	0.08648	0.377000	0.30045	0.268000	0.18571	0.327000	0.23409	0.650000	0.86243	TTG		0.373	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		30	122	0	0	0	1	0	30	122				
TTN	7273	broad.mit.edu	37	2	179431719	179431719	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179431719C>G	ENST00000591111.1	-	276	74441	c.74217G>C	c.(74215-74217)atG>atC	p.M24739I	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M17315I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M17507I|TTN_ENST00000589042.1_Missense_Mutation_p.M26380I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24739	Fibronectin type-III 79. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGATTTTTCATTAGTACTG	0.408																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(79138-79140)atG>atC		titin							131.0	130.0	130.0					2																	179431719		1865	4094	5959	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431719C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74217G>C	2.37:g.179431719C>G	ENSP00000465570:p.Met24739Ile					TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M24739I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M17315I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M17440I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M23812I|TTN_ENST00000342175.6_Missense_Mutation_p.M17507I	p.M26380I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	79364	-			24739			Ig-like 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.79140G>C		.	.	.	.	.	.	.	.	.	.	C	12.14	1.849779	0.32699	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.62	5.62	0.85841	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.42154	0.1190	L	0.31845	0.965	0.58432	D	0.999995	B;B;B;B	0.25441	0.067;0.067;0.067;0.126	B;B;B;B	0.18871	0.012;0.012;0.012;0.023	T	0.32241	-0.9914	9	0.87932	D	0	.	19.6593	0.95859	0.0:1.0:0.0:0.0	.	17315;17440;17507;24739	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	23812;17315;17507;17440;17313	ENSP00000343764:M23812I;ENSP00000434586:M17315I;ENSP00000340554:M17507I;ENSP00000352154:M17440I	ENSP00000340554:M17507I	M	-	3	0	TTN	179139965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.848000	0.62874	2.637000	0.89404	0.462000	0.41574	ATG		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		66	171	0	0	0	1	0	66	171				
NELL1	4745	broad.mit.edu	37	11	21594894	21594894	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:21594894C>T	ENST00000357134.5	+	19	2473	c.2321C>T	c.(2320-2322)tCa>tTa	p.S774L	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L|NELL1_ENST00000298925.5_Missense_Mutation_p.S802L|NELL1_ENST00000325319.5_Missense_Mutation_p.S717L	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	774					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGGTGTTTCACGGCTTAGT	0.483																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(2404-2406)tCa>tTa		NEL-like 1 (chicken)							173.0	151.0	159.0					11																	21594894		2203	4300	6503	SO:0001583	missense	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:21594894C>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.2321C>T	11.37:g.21594894C>T	ENSP00000349654:p.Ser774Leu					NELL1_ENST00000325319.5_Missense_Mutation_p.S717L|NELL1_ENST00000357134.5_Missense_Mutation_p.S774L|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.S727L	p.S802L			Q92832	NELL1_HUMAN			20	2558	+			774			VWFC 5.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	SNP	ENST00000357134.5	37	c.2405C>T	CCDS7855.1	.	.	.	.	.	.	.	.	.	.	C	4.821	0.152569	0.09185	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	T;T;T;T	0.79033	-1.23;-1.21;-1.13;-1.09	5.73	2.75	0.32379	.	0.536654	0.17202	N	0.183094	T	0.59500	0.2198	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B	0.16802	0.001;0.0;0.006;0.019;0.0	B;B;B;B;B	0.21708	0.002;0.001;0.004;0.036;0.001	T	0.39663	-0.9603	10	0.07644	T	0.81	-4.5342	8.6363	0.33950	0.1243:0.7436:0.0:0.1321	.	717;802;319;727;774	F5H6I3;B3KXR2;Q8N9Z6;Q92832-2;Q92832	.;.;.;.;NELL1_HUMAN	L	802;774;717;727	ENSP00000298925:S802L;ENSP00000349654:S774L;ENSP00000317837:S717L;ENSP00000437170:S727L	ENSP00000298925:S802L	S	+	2	0	NELL1	21551470	0.971000	0.33674	0.188000	0.23233	0.091000	0.18340	2.412000	0.44609	0.772000	0.33382	0.555000	0.69702	TCA		0.483	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		18	165	0	0	0	1	0	18	165				
SLC6A4	6532	broad.mit.edu	37	17	28544279	28544279	+	Silent	SNP	G	G	A	rs76377611		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:28544279G>A	ENST00000401766.2	-	5	1254	c.742C>T	c.(742-744)Ctg>Ttg	p.L248L	SLC6A4_ENST00000261707.3_Silent_p.L248L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	248					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	ATGCCCCCCAGGTCCTGGAGC	0.587																																						ENST00000401766.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25						c.(742-744)Ctg>Ttg		solute carrier family 6 (neurotransmitter transporter), member 4	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)						75.0	77.0	76.0					17																	28544279		2203	4300	6503	SO:0001819	synonymous_variant	6532				response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	g.chr17:28544279G>A	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.742C>T	17.37:g.28544279G>A						SLC6A4_ENST00000261707.3_Silent_p.L248L	p.L248L			P31645	SC6A4_HUMAN			5	1254	-			248					Q5EE02	Silent	SNP	ENST00000401766.2	37	c.742C>T	CCDS11256.1																																																																																				0.587	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256115.3	NM_001045		33	86	0	0	0	1	0	33	86				
OSBPL6	114880	broad.mit.edu	37	2	179259114	179259114	+	Missense_Mutation	SNP	G	G	C	rs367905415		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179259114G>C	ENST00000190611.4	+	24	3024	c.2648G>C	c.(2647-2649)aGa>aCa	p.R883T	OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847T|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	883					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R908I(1)|p.R883I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGATCTCGGAGACGATATATG	0.358																																						ENST00000190611.4																			2	Substitution - Missense(2)	p.R908I(1)|p.R883I(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(2647-2649)aGa>aCa		oxysterol binding protein-like 6		G	THR/ARG,THR/ARG,THR/ARG,THR/ARG,THR/ARG	0,4406		0,0,2203	109.0	122.0	117.0		2723,2555,2540,2648,2660	6.1	1.0	2		117	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	OSBPL6	NM_001201480.1,NM_001201481.1,NM_001201482.1,NM_032523.3,NM_145739.2	71,71,71,71,71	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	908/960,852/904,847/899,883/935,887/939	179259114	1,13005	2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179259114G>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2648G>C	2.37:g.179259114G>C	ENSP00000190611:p.Arg883Thr					OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908T|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852T	p.R883T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		24	3024	+			883					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2648G>C	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.008034	0.93287	0.0	1.16E-4	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14	6.07	6.07	0.98685	.	0.079368	0.85682	D	0.000000	T	0.71005	0.3289	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.998;0.995	D;D;D;D;D	0.85130	0.991;0.987;0.997;0.995;0.936	T	0.75861	-0.3168	10	0.87932	D	0	-20.1441	20.6525	0.99598	0.0:0.0:1.0:0.0	.	852;887;847;908;883	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	T	908;847;852;883;847;887	ENSP00000376293:R908T;ENSP00000352713:R847T;ENSP00000387248:R852T;ENSP00000190611:R883T;ENSP00000386885:R847T;ENSP00000318723:R887T	ENSP00000190611:R883T	R	+	2	0	OSBPL6	178967360	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.254000	0.78329	2.890000	0.99128	0.585000	0.79938	AGA		0.358	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		36	148	0	0	0	1	0	36	148				
CES1P1	51716	broad.mit.edu	37	16	55794562	55794562	+	RNA	SNP	C	C	G	rs557188381		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:55794562C>G	ENST00000571348.1	+	0	52					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GGATGTGGCTCCCTGCTCTTG	0.632																																						ENST00000571348.1																			0																																																			51716							g.chr16:55794562C>G	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55794562C>G								NR_003276.2						0	52	+								A2RRL8|B9ZVS2	RNA	SNP	ENST00000571348.1	37																																																																																						0.632	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		7	16	0	0	0	1	0	7	16				
ABCA13	154664	broad.mit.edu	37	7	48312992	48312992	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:48312992T>G	ENST00000435803.1	+	17	3753	c.3729T>G	c.(3727-3729)gtT>gtG	p.V1243V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1243					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATGCATTAGTTTCAGTAAAAA	0.373																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(3727-3729)gtT>gtG		ATP-binding cassette, sub-family A (ABC1), member 13							40.0	39.0	39.0					7																	48312992		1826	4083	5909	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48312992T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3729T>G	7.37:g.48312992T>G							p.V1243V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			17	3753	+			1243					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.3729T>G	CCDS47584.1																																																																																				0.373	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		21	40	0	0	0	1	0	21	40				
SHANK1	50944	broad.mit.edu	37	19	51218960	51218960	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218960G>T	ENST00000293441.1	-	3	505	c.487C>A	c.(487-489)Cag>Aag	p.Q163K	SHANK1_ENST00000391814.1_Missense_Mutation_p.Q163K|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q163K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	163					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGTTGGTCTGTTTGTAAACT	0.552																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(487-489)Cag>Aag		SH3 and multiple ankyrin repeat domains 1							210.0	193.0	199.0					19																	51218960		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51218960G>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.487C>A	19.37:g.51218960G>T	ENSP00000293441:p.Gln163Lys					SHANK1_ENST00000391814.1_Missense_Mutation_p.Q163K|SHANK1_ENST00000359082.3_Missense_Mutation_p.Q163K	p.Q163K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	3	505	-		all_neural(266;0.057)	163					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.487C>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	11.27	1.590556	0.28357	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.15256	2.44;2.44;2.44	1.66	1.66	0.24008	.	0.110120	0.33382	U	0.004964	T	0.33990	0.0882	M	0.73217	2.22	0.42975	D	0.994448	D	0.57899	0.981	P	0.62184	0.899	T	0.29971	-0.9994	10	0.72032	D	0.01	.	11.0543	0.47909	0.0:0.0:1.0:0.0	.	163	Q9Y566	SHAN1_HUMAN	K	163	ENSP00000293441:Q163K;ENSP00000351984:Q163K;ENSP00000375690:Q163K	ENSP00000293441:Q163K	Q	-	1	0	SHANK1	55910772	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.657000	0.91106	1.273000	0.44346	0.298000	0.19748	CAG		0.552	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		41	147	1	0	5.78141e-17	1	6.83971e-17	41	147				
MUC17	140453	broad.mit.edu	37	7	100676292	100676292	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676292C>A	ENST00000306151.4	+	3	1659	c.1595C>A	c.(1594-1596)tCa>tAa	p.S532*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	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)					AGCACCCTTTCAACAACTCCT	0.498																																						ENST00000306151.4																			0				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						c.(1594-1596)tCa>tAa		mucin 17, cell surface associated							351.0	359.0	357.0					7																	100676292		2203	4298	6501	SO:0001587	stop_gained	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676292C>A	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.1595C>A	7.37:g.100676292C>A	ENSP00000302716:p.Ser532*						p.S532*	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1659	+	Lung NSC(181;0.136)|all_lung(186;0.182)		532			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Nonsense_Mutation	SNP	ENST00000306151.4	37	c.1595C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	18.82	3.704940	0.68615	.	.	ENSG00000169876	ENST00000306151	.	.	.	1.33	0.207	0.15214	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.205	0.20598	0.2984:0.7016:0.0:0.0	.	.	.	.	X	532	.	ENSP00000302716:S532X	S	+	2	0	MUC17	100463012	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.502000	0.22594	0.082000	0.17018	0.395000	0.25975	TCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		187	608	1	0	5.64929e-65	1	7.06667e-65	187	608				
SNX30	401548	broad.mit.edu	37	9	115598518	115598518	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:115598518G>A	ENST00000374232.3	+	5	807	c.643G>A	c.(643-645)Ggg>Agg	p.G215R		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	215					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAGAAGCAAGGGATAGCATT	0.493																																						ENST00000374232.3																			0				large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(643-645)Ggg>Agg		sorting nexin family member 30							147.0	138.0	141.0					9																	115598518		2005	4189	6194	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598518G>A	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.643G>A	9.37:g.115598518G>A	ENSP00000363349:p.Gly215Arg						p.G215R	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN			5	807	+			215						Missense_Mutation	SNP	ENST00000374232.3	37	c.643G>A	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.140475	0.77775	.	.	ENSG00000148158	ENST00000374232	T	0.26660	1.72	5.8	5.8	0.92144	.	0.104882	0.64402	D	0.000004	T	0.51244	0.1663	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25745	-1.0123	10	0.27785	T	0.31	.	20.0487	0.97617	0.0:0.0:1.0:0.0	.	215	Q5VWJ9	SNX30_HUMAN	R	215	ENSP00000363349:G215R	ENSP00000363349:G215R	G	+	1	0	SNX30	114638339	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.843000	0.99491	2.742000	0.94016	0.655000	0.94253	GGG		0.493	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1			115	112	0	0	0	1	0	115	112				
MAN1B1	11253	broad.mit.edu	37	9	140002088	140002088	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140002088C>T	ENST00000371589.4	+	12	1943	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MAN1B1_ENST00000474902.1_Silent_p.L327L|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	624					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CTGGGAGATTCTGCAGAGCTT	0.657																																						ENST00000371589.4																			0				autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14						c.(1870-1872)Ctg>Ttg		mannosidase, alpha, class 1B, member 1							118.0	100.0	106.0					9																	140002088		2202	4300	6502	SO:0001819	synonymous_variant	11253				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr9:140002088C>T	AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.1870C>T	9.37:g.140002088C>T						MAN1B1_ENST00000540391.1_3'UTR|MAN1B1_ENST00000474902.1_Silent_p.L327L	p.L624L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)	12	1943	+	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	624					Q5VSG3|Q9BRS9|Q9Y5K7	Silent	SNP	ENST00000371589.4	37	c.1870C>T	CCDS7029.1	.	.	.	.	.	.	.	.	.	.	C	9.448	1.089847	0.20390	.	.	ENSG00000177239	ENST00000535144;ENST00000475449;ENST00000550113	.	.	.	5.19	2.98	0.34508	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55192	-0.8179	4	.	.	.	.	9.1662	0.37052	0.0:0.7448:0.0:0.2552	.	.	.	.	F	597;97;61	.	.	S	+	2	0	MAN1B1	139121909	1.000000	0.71417	0.997000	0.53966	0.794000	0.44872	2.114000	0.41911	1.203000	0.43233	0.561000	0.74099	TCT		0.657	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055294.2	NM_016219		89	87	0	0	0	1	0	89	87				
BCL9L	283149	broad.mit.edu	37	11	118774061	118774061	+	Silent	SNP	G	G	A	rs540383108		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:118774061G>A	ENST00000334801.3	-	4	1597	c.633C>T	c.(631-633)caC>caT	p.H211H	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	211					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GAGGAGGGCCGTGCGGGGCGC	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10872	0.0		0.0	False		,,,				2504	0.0					ENST00000334801.3																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56						c.(631-633)caC>caT		B-cell CLL/lymphoma 9-like							9.0	12.0	11.0					11																	118774061		2146	4245	6391	SO:0001819	synonymous_variant	283149				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity	g.chr11:118774061G>A	AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.633C>T	11.37:g.118774061G>A						BCL9L_ENST00000526143.1_5'UTR	p.H211H	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)	4	1597	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	211					A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	ENST00000334801.3	37	c.633C>T	CCDS8403.1																																																																																				0.697	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		5	14	0	0	0	1	0	5	14				
ASIC2	40	broad.mit.edu	37	17	31618636	31618636	+	Intron	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:31618636G>A	ENST00000359872.6	-	2	1317				ASIC2_ENST00000448983.1_5'Flank|ASIC2_ENST00000225823.2_Silent_p.T166T	NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2						central nervous system development (GO:0007417)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|ion transmembrane transport (GO:0034220)|monovalent inorganic cation transport (GO:0015672)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|phototransduction (GO:0007602)|positive regulation of synapse assembly (GO:0051965)|protein localization to synapse (GO:0035418)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of membrane potential (GO:0042391)|regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (GO:0003026)|regulation of vasoconstriction (GO:0019229)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|sensory perception of sound (GO:0007605)|sensory perception of sour taste (GO:0050915)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)|voltage-gated sodium channel activity (GO:0005248)									Amiloride(DB00594)	GCGGGCGCGCGGTGCGGTTGG	0.701																																						ENST00000225823.2																			0											c.(496-498)acC>acT		acid-sensing (proton-gated) ion channel 2	Amiloride(DB00594)						10.0	11.0	11.0					17																	31618636		2102	4141	6243	SO:0001627	intron_variant	40				central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr17:31618636G>A	AL834182	CCDS11276.1, CCDS42296.1	17q11.2-q12	2012-02-23	2012-02-22	2012-02-22	ENSG00000108684	ENSG00000108684		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	99	protein-coding gene	gene with protein product	"""degenerin"""	601784	"""amiloride-sensitive cation channel 1, neuronal"""	ACCN, ACCN1		8921408	Standard	NM_183377		Approved	ASIC2a, BNC1, BNaC1, hBNaC1, MDEG	uc002hhu.3	Q16515	OTTHUMG00000132885	ENST00000359872.6:c.556-179551C>T	17.37:g.31618636G>A						ASIC2_ENST00000359872.6_Intron	p.T166T	NM_183377.1	NP_899233.1	Q16515	ACCN1_HUMAN			1	1370	-			128					E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	c.498C>T	CCDS42296.1																																																																																				0.701	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094		13	26	0	0	0	1	0	13	26				
CAPRIN2	65981	broad.mit.edu	37	12	30867898	30867898	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867898T>A	ENST00000395805.2	-	14	3024	c.2477A>T	c.(2476-2478)tAt>tTt	p.Y826F	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832F|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548F|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Y882F	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CATACCTTTATAACCACCAGG	0.413																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2644-2646)tAt>tTt		caprin family member 2							75.0	75.0	75.0					12																	30867898		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867898T>A	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2477A>T	12.37:g.30867898T>A	ENSP00000379150:p.Tyr826Phe					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826F|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832F|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548F|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881F	p.Y882F	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			15	3395	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		882						Missense_Mutation	SNP	ENST00000395805.2	37	c.2645A>T	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.398413	0.83120	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	5.54	5.54	0.83059	.	0.171581	0.40554	N	0.001077	T	0.24547	0.0595	N	0.17723	0.515	0.43569	D	0.995894	D;D;D;D;D	0.76494	0.999;0.998;0.997;0.991;0.999	D;D;D;P;D	0.83275	0.996;0.958;0.96;0.86;0.973	T	0.05716	-1.0868	10	0.72032	D	0.01	-10.7652	15.6907	0.77450	0.0:0.0:0.0:1.0	.	826;881;882;832;881	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	F	627;832;826;882;548;881	ENSP00000415407:Y627F;ENSP00000298892:Y832F;ENSP00000379150:Y826F;ENSP00000251071:Y882F;ENSP00000309785:Y548F;ENSP00000391479:Y881F	ENSP00000251071:Y882F	Y	-	2	0	CAPRIN2	30759165	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.180000	0.58296	2.103000	0.63969	0.533000	0.62120	TAT		0.413	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		52	106	0	0	0	1	0	52	106				
PAX3	5077	broad.mit.edu	37	2	223096999	223096999	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:223096999G>A	ENST00000350526.4	-	5	726	c.590C>T	c.(589-591)tCa>tTa	p.S197L	PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	197					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGGGGTGCTGAGGCTAAAAG	0.413			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															ENST00000350526.4				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	"""FOXO1A, NCOA1"""		alveolar rhabdomyosarcoma	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	0				NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(589-591)tCa>tTa		paired box 3							86.0	86.0	86.0					2																	223096999		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223096999G>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.590C>T	2.37:g.223096999G>A	ENSP00000343052:p.Ser197Leu					PAX3_ENST00000336840.6_Missense_Mutation_p.S197L|PAX3_ENST00000392069.2_Missense_Mutation_p.S197L|PAX3_ENST00000392070.2_Missense_Mutation_p.S197L|PAX3_ENST00000409551.3_Missense_Mutation_p.S196L|PAX3_ENST00000344493.4_Missense_Mutation_p.S197L	p.S197L	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	726	-		Renal(207;0.0183)	197					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.590C>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616810	0.46736	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.94793	-3.5;-3.5;-3.49;-3.47;-3.52;-3.48	5.57	5.57	0.84162	.	0.722517	0.12437	N	0.469028	D	0.94634	0.8270	M	0.81497	2.545	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.001;0.0;0.001;0.002;0.002	D	0.90508	0.4479	10	0.22706	T	0.39	.	19.5583	0.95363	0.0:0.0:1.0:0.0	.	197;196;197;197;197	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	L	197;197;197;197;197;196	ENSP00000375921:S197L;ENSP00000342092:S197L;ENSP00000343052:S197L;ENSP00000375922:S197L;ENSP00000338767:S197L;ENSP00000386750:S196L	ENSP00000338767:S197L	S	-	2	0	PAX3	222805243	1.000000	0.71417	0.994000	0.49952	0.363000	0.29612	5.337000	0.65941	2.616000	0.88540	0.557000	0.71058	TCA		0.413	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			33	67	0	0	0	1	0	33	67				
DPP6	1804	broad.mit.edu	37	7	154379500	154379500	+	Intron	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:154379500C>G	ENST00000377770.3	+	6	768				DPP6_ENST00000332007.3_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.C256W			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCTTCACTGCCTGCGTGACT	0.493																																					NSCLC(125;1384 1783 2490 7422 34254)	ENST00000406326.1																			0				NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71						c.(766-768)tgC>tgG		dipeptidyl-peptidase 6							28.0	26.0	27.0					7																	154379500		874	1986	2860	SO:0001627	intron_variant	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154379500C>G	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.628-50031C>G	7.37:g.154379500C>G						DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron	p.C256W			P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		6	1171	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	367						Missense_Mutation	SNP	ENST00000377770.3	37	c.768C>G		.	.	.	.	.	.	.	.	.	.	C	4.119	0.020369	0.08006	.	.	ENSG00000130226	ENST00000406326	.	.	.	2.87	0.934	0.19477	.	.	.	.	.	T	0.47930	0.1472	.	.	.	0.09310	N	1	D	0.63046	0.992	P	0.57204	0.815	T	0.33904	-0.9850	7	0.87932	D	0	.	3.9565	0.09391	0.0:0.6054:0.2499:0.1446	.	256	Q8IYG9	.	W	256	.	ENSP00000384393:C256W	C	+	3	2	DPP6	154010433	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-0.502000	0.06390	0.220000	0.20860	0.313000	0.20887	TGC		0.493	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		7	18	0	0	0	1	0	7	18				
ELFN2	114794	broad.mit.edu	37	22	37769986	37769986	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:37769986G>C	ENST00000402918.2	-	3	2374	c.1589C>G	c.(1588-1590)tCg>tGg	p.S530W	ELFN2_ENST00000435824.1_5'Flank|RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	530					negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCTGCAGCCGAGCCCTGGCC	0.607																																						ENST00000402918.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35						c.(1588-1590)tCg>tGg		extracellular leucine-rich repeat and fibronectin type III domain containing 2							77.0	76.0	76.0					22																	37769986		2202	4300	6502	SO:0001583	missense	114794					cell surface|integral to membrane		g.chr22:37769986G>C	BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.1589C>G	22.37:g.37769986G>C	ENSP00000385277:p.Ser530Trp					RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.S530W	p.S530W	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN			3	2374	-	Melanoma(58;0.0574)		530					Q96PY3	Missense_Mutation	SNP	ENST00000402918.2	37	c.1589C>G	CCDS33642.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353029	0.41700	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.36878	1.23;1.23	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.62048	0.2396	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67914	-0.5547	10	0.87932	D	0	-14.4997	17.8355	0.88694	0.0:0.0:1.0:0.0	.	530	Q5R3F8	PPR29_HUMAN	W	530	ENSP00000300147:S530W;ENSP00000385277:S530W	ENSP00000300147:S530W	S	-	2	0	ELFN2	36099932	1.000000	0.71417	0.729000	0.30791	0.266000	0.26442	7.703000	0.84585	2.195000	0.70347	0.511000	0.50034	TCG		0.607	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318900.2	NM_052906		102	133	0	0	0	1	0	102	133				
ADCY10	55811	broad.mit.edu	37	1	167823634	167823634	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:167823634C>G	ENST00000367851.4	-	18	2449	c.2265G>C	c.(2263-2265)acG>acC	p.T755T	ADCY10_ENST00000545172.1_Silent_p.T602T|ADCY10_ENST00000367848.1_Silent_p.T663T	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	755					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CCTCAGACTCCGTTTGTTGGA	0.433																																						ENST00000367848.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(1987-1989)acG>acC		adenylate cyclase 10 (soluble)							172.0	161.0	165.0					1																	167823634		2203	4300	6503	SO:0001819	synonymous_variant	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167823634C>G	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2265G>C	1.37:g.167823634C>G						ADCY10_ENST00000367851.4_Silent_p.T755T|ADCY10_ENST00000545172.1_Silent_p.T602T	p.T663T			Q96PN6	ADCYA_HUMAN			18	2486	-			755					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Silent	SNP	ENST00000367851.4	37	c.1989G>C	CCDS1265.1																																																																																				0.433	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		12	122	0	0	0	1	0	12	122				
EEF1E1	9521	broad.mit.edu	37	6	8102739	8102739	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:8102739C>G	ENST00000379715.5	-	1	72	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	EEF1E1-BLOC1S5_ENST00000397456.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000507463.1_Missense_Mutation_p.E6Q|EEF1E1_ENST00000429723.2_Missense_Mutation_p.E6Q	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	6	N-terminal.				gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					AGCGACAACTCTGCGGCCGCC	0.602																																						ENST00000379715.5																			0				endometrium(1)|prostate(1)	2						c.(16-18)Gag>Cag		eukaryotic translation elongation factor 1 epsilon 1							33.0	34.0	33.0					6																	8102739		2203	4300	6503	SO:0001583	missense	9521				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		g.chr6:8102739C>G	AF054186	CCDS4507.1, CCDS47370.1	6p24.3	2009-05-20			ENSG00000124802	ENSG00000124802			3212	protein-coding gene	gene with protein product	"""aminoacyl tRNA synthetase complex-interacting multifunctional protein 3"""	609206		P18		9653160	Standard	NM_004280		Approved	AIMP3	uc003mxz.3	O43324	OTTHUMG00000014221	ENST00000379715.5:c.16G>C	6.37:g.8102739C>G	ENSP00000369038:p.Glu6Gln					EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000429723.2_Missense_Mutation_p.E6Q|EEF1E1_ENST00000507463.1_Missense_Mutation_p.E6Q	p.E6Q	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN			1	72	-	Ovarian(93;0.0398)		6					C9JLK5|Q5THS2	Missense_Mutation	SNP	ENST00000379715.5	37	c.16G>C	CCDS4507.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.312190	0.60414	.	.	ENSG00000124802	ENST00000429723;ENST00000379715;ENST00000507463	T;T	0.07327	3.2;3.2	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	M	0.61703	1.905	0.80722	D	1	D;D	0.67145	0.996;0.994	P;P	0.61658	0.892;0.81	T	0.00261	-1.1868	9	.	.	.	-29.8268	19.874	0.96863	0.0:1.0:0.0:0.0	.	6;6	C9JLK5;O43324	.;MCA3_HUMAN	Q	6	ENSP00000414363:E6Q;ENSP00000369038:E6Q	.	E	-	1	0	EEF1E1	8047738	1.000000	0.71417	0.876000	0.34364	0.043000	0.13939	5.995000	0.70631	2.788000	0.95919	0.650000	0.86243	GAG		0.602	EEF1E1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039799.2	NM_004280		7	65	0	0	0	1	0	7	65				
RFWD2	64326	broad.mit.edu	37	1	176175841	176175841	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:176175841C>A	ENST00000367669.3	-	1	788	c.274G>T	c.(274-276)Gcg>Tcg	p.A92S	RFWD2_ENST00000308769.8_Missense_Mutation_p.A92S|RP11-195C7.1_ENST00000456125.1_RNA	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	92	Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCCTGGCCGCGCAGCTGTGC	0.756																																					Ovarian(134;1413 1765 5706 35534 51541)	ENST00000367669.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(274-276)Gcg>Tcg		ring finger and WD repeat domain 2, E3 ubiquitin protein ligase							8.0	9.0	8.0					1																	176175841		2114	4143	6257	SO:0001583	missense	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176175841C>A	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.274G>T	1.37:g.176175841C>A	ENSP00000356641:p.Ala92Ser					RFWD2_ENST00000308769.8_Missense_Mutation_p.A92S	p.A92S	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN			1	788	-			92			Ser-rich.		E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	c.274G>T	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728682	0.48833	.	.	ENSG00000143207	ENST00000367669;ENST00000308769;ENST00000436424	T;T	0.56444	0.54;0.46	3.46	1.33	0.21861	.	0.230437	0.36101	N	0.002787	T	0.22742	0.0549	N	0.04508	-0.205	0.24888	N	0.992181	B;B	0.19706	0.0;0.038	B;B	0.15870	0.0;0.014	T	0.13791	-1.0496	9	.	.	.	-0.6374	5.8554	0.18716	0.1888:0.6956:0.0:0.1155	.	92;92	Q8NHY2-2;Q8NHY2	.;RFWD2_HUMAN	S	92	ENSP00000356641:A92S;ENSP00000310943:A92S	.	A	-	1	0	RFWD2	174442464	0.995000	0.38212	0.987000	0.45799	0.924000	0.55760	1.557000	0.36299	0.767000	0.33267	0.455000	0.32223	GCG		0.756	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457		4	24	1	0	0.150653	1	0.15196	4	24				
LMTK2	22853	broad.mit.edu	37	7	97766644	97766644	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:97766644G>T	ENST00000297293.5	+	2	414	c.121G>T	c.(121-123)Gca>Tca	p.A41S	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	41					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCACCTGCTGCAGAAGTTTC	0.348																																						ENST00000297293.5																			0				NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59						c.(121-123)Gca>Tca		lemur tyrosine kinase 2							74.0	75.0	75.0					7																	97766644		2203	4300	6503	SO:0001583	missense	22853				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr7:97766644G>T	AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.121G>T	7.37:g.97766644G>T	ENSP00000297293:p.Ala41Ser					LMTK2_ENST00000493372.1_3'UTR	p.A41S	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN			2	414	+	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)		41					A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	c.121G>T	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127175	0.20959	.	.	ENSG00000164715	ENST00000297293	T	0.77489	-1.1	5.12	1.33	0.21861	.	0.518747	0.20243	N	0.096254	T	0.56277	0.1974	N	0.24115	0.695	0.09310	N	1	P	0.35745	0.518	B	0.30401	0.115	T	0.45542	-0.9254	10	0.11182	T	0.66	.	9.1635	0.37037	0.292:0.0:0.708:0.0	.	41	Q8IWU2	LMTK2_HUMAN	S	41	ENSP00000297293:A41S	ENSP00000297293:A41S	A	+	1	0	LMTK2	97604580	0.968000	0.33430	0.300000	0.25030	0.985000	0.73830	0.861000	0.27885	-0.030000	0.13804	0.591000	0.81541	GCA		0.348	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916		10	117	1	0	0.00621372	1	0.00635949	10	117				
PDPK1	5170	broad.mit.edu	37	16	2636824	2636824	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:2636824G>T	ENST00000342085.4	+	11	1422	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	PDPK1_ENST00000441549.3_Nonsense_Mutation_p.E425*|PDPK1_ENST00000268673.7_Nonsense_Mutation_p.E298*|PDPK1_ENST00000389224.3_Nonsense_Mutation_p.E398*|PDPK1_ENST00000354836.5_Nonsense_Mutation_p.E401*	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	425					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GAACTCCTTTGAACTGGACTT	0.512																																						ENST00000342085.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(1273-1275)Gaa>Taa		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						151.0	144.0	147.0					16																	2636824		2198	4300	6498	SO:0001587	stop_gained	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2636824G>T	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1273G>T	16.37:g.2636824G>T	ENSP00000344220:p.Glu425*					PDPK1_ENST00000441549.3_Nonsense_Mutation_p.E425*|PDPK1_ENST00000268673.7_Nonsense_Mutation_p.E298*|PDPK1_ENST00000354836.5_Nonsense_Mutation_p.E401*|PDPK1_ENST00000389224.3_Nonsense_Mutation_p.E398*	p.E425*	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN			11	1422	+		Ovarian(90;0.17)	425					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Nonsense_Mutation	SNP	ENST00000342085.4	37	c.1273G>T	CCDS10472.1	.	.	.	.	.	.	.	.	.	.	G	38	6.759500	0.97817	.	.	ENSG00000140992	ENST00000342085;ENST00000441549;ENST00000268673;ENST00000354836;ENST00000389224	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-26.5519	17.1174	0.86692	0.0:0.0:1.0:0.0	.	.	.	.	X	425;463;298;401;398	.	ENSP00000268673:E298X	E	+	1	0	PDPK1	2576825	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.381000	0.97205	2.627000	0.88993	0.655000	0.94253	GAA		0.512	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			43	138	1	0	1.15183e-24	1	1.41049e-24	43	138				
IQCJ	654502	broad.mit.edu	37	3	158980417	158980417	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:158980417C>G	ENST00000451172.1	+	4	341	c.236C>G	c.(235-237)tCa>tGa	p.S79*	IQCJ-SCHIP1_ENST00000485419.1_Nonsense_Mutation_p.S79*|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000397832.2_Nonsense_Mutation_p.S79*|IQCJ-SCHIP1_ENST00000476809.1_Nonsense_Mutation_p.S52*|IQCJ_ENST00000482126.1_Nonsense_Mutation_p.S52*	NM_001042705.2	NP_001036170.1	Q1A5X6	IQCJ_HUMAN	IQ motif containing J	79								p.S79*(3)		cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TCTGTCTCCTCAGAGAAGCTG	0.532																																						ENST00000485419.1																			3	Substitution - Nonsense(3)	p.S79*(3)	lung(3)	central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						c.(235-237)tCa>tGa									96.0	98.0	98.0					3																	158980417		2006	4157	6163	SO:0001587	stop_gained	100505385					cytoplasm	identical protein binding|protein binding	g.chr3:158980417C>G	DQ309553, DQ309554	CCDS46946.1, CCDS46947.1, CCDS56290.1	3q25.32	2011-03-24			ENSG00000214216	ENSG00000214216			32406	protein-coding gene	gene with protein product		611622				17045569	Standard	NM_001042705		Approved			Q1A5X6	OTTHUMG00000166440	ENST00000451172.1:c.236C>G	3.37:g.158980417C>G	ENSP00000402153:p.Ser79*					IQCJ_ENST00000451172.1_Nonsense_Mutation_p.S79*|IQCJ_ENST00000482126.1_Nonsense_Mutation_p.S52*|IQCJ-SCHIP1_ENST00000476809.1_Nonsense_Mutation_p.S52*|IQCJ_ENST00000397832.2_Nonsense_Mutation_p.S79*|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR	p.S79*	NM_001197113.1	NP_001184042.1	Q9P0W5	SCHI1_HUMAN			4	405	+			0					B7ZMM2|B9EH97|Q1A5X5	Nonsense_Mutation	SNP	ENST00000451172.1	37	c.236C>G	CCDS46946.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509178	0.44660	.	.	ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000250588;ENSG00000214216;ENSG00000214216;ENSG00000214216	ENST00000476809;ENST00000485419;ENST00000483486;ENST00000481715;ENST00000488898;ENST00000397832;ENST00000451172;ENST00000482126	.	.	.	5.41	4.54	0.55810	.	0.000000	0.48767	U	0.000167	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.0541	0.58969	0.0:0.921:0.0:0.0789	.	.	.	.	X	52;79;79;52;50;79;79;52	.	ENSP00000380932:S79X	S	+	2	0	IQCJ-SCHIP1;IQCJ	160463111	1.000000	0.71417	0.958000	0.39756	0.337000	0.28794	6.992000	0.76238	1.284000	0.44531	-0.136000	0.14681	TCA		0.532	IQCJ-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352395.1	NM_001042705.1		25	168	0	0	0	1	0	25	168				
ARHGAP39	80728	broad.mit.edu	37	8	145772651	145772651	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:145772651C>T	ENST00000276826.5	-	4	2020	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607K|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	607					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCCAGCGCCTCGTCCTCGCTG	0.687																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1819-1821)Gag>Aag		Rho GTPase activating protein 39							29.0	23.0	25.0					8																	145772651		2201	4299	6500	SO:0001583	missense	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145772651C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1819G>A	8.37:g.145772651C>T	ENSP00000276826:p.Glu607Lys					ARHGAP39_ENST00000540274.1_Missense_Mutation_p.E607K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.E607K	p.E607K			Q9C0H5	RHG39_HUMAN			4	2020	-			607					B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37	c.1819G>A		.	.	.	.	.	.	.	.	.	.	C	17.95	3.513981	0.64522	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.69561	-0.41;-0.14;-0.41	5.05	5.05	0.67936	.	0.168491	0.51477	D	0.000088	T	0.75946	0.3919	L	0.53249	1.67	0.39241	D	0.963858	D;D	0.89917	1.0;1.0	D;D	0.79108	0.981;0.992	T	0.72027	-0.4414	10	0.14252	T	0.57	-16.4834	15.8849	0.79238	0.0:1.0:0.0:0.0	.	607;607	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	607	ENSP00000276826:E607K;ENSP00000366522:E607K;ENSP00000445075:E607K	ENSP00000276826:E607K	E	-	1	0	ARHGAP39	145743459	1.000000	0.71417	0.854000	0.33618	0.518000	0.34316	4.804000	0.62554	2.348000	0.79779	0.655000	0.94253	GAG		0.687	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			6	14	0	0	0	1	0	6	14				
DDX42	11325	broad.mit.edu	37	17	61888504	61888504	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61888504A>G	ENST00000578681.1	+	14	1970	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	DDX42_ENST00000583590.1_Missense_Mutation_p.I457V|DDX42_ENST00000457800.2_Missense_Mutation_p.I457V|DDX42_ENST00000389924.2_Missense_Mutation_p.I457V|DDX42_ENST00000359353.5_Missense_Mutation_p.I338V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	457	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATCGACCCTATTCGAGTGGT	0.398																																						ENST00000578681.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.(1369-1371)Att>Gtt		DEAD (Asp-Glu-Ala-Asp) box helicase 42							79.0	74.0	76.0					17																	61888504		2203	4300	6503	SO:0001583	missense	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61888504A>G	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1369A>G	17.37:g.61888504A>G	ENSP00000464050:p.Ile457Val					DDX42_ENST00000457800.2_Missense_Mutation_p.I457V|DDX42_ENST00000389924.2_Missense_Mutation_p.I457V|DDX42_ENST00000359353.5_Missense_Mutation_p.I338V|DDX42_ENST00000583590.1_Missense_Mutation_p.I457V	p.I457V	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN			14	1970	+			457			Helicase ATP-binding.		A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.1369A>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	A	13.15	2.151271	0.38021	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.04454	3.62;3.62	5.33	5.33	0.75918	DEAD-like helicase (2);	0.070715	0.85682	D	0.000000	T	0.02571	0.0078	N	0.03324	-0.35	0.80722	D	1	B	0.23377	0.084	B	0.19666	0.026	T	0.52793	-0.8528	10	0.10636	T	0.68	-16.182	14.6429	0.68739	1.0:0.0:0.0:0.0	.	457	Q86XP3	DDX42_HUMAN	V	457;457;193	ENSP00000374574:I457V;ENSP00000390121:I457V	ENSP00000352308:I193V	I	+	1	0	DDX42	59242236	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.082000	0.94059	2.240000	0.73641	0.533000	0.62120	ATT		0.398	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		24	65	0	0	0	1	0	24	65				
MAP2	4133	broad.mit.edu	37	2	210559487	210559487	+	Nonsense_Mutation	SNP	G	G	T	rs188844755		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:210559487G>T	ENST00000360351.4	+	7	3099	c.2593G>T	c.(2593-2595)Gaa>Taa	p.E865*	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	865					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTCAGCTCGAAGACCTGGG	0.468																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2593-2595)Gaa>Taa		microtubule-associated protein 2	Estramustine(DB01196)						83.0	74.0	77.0					2																	210559487		2203	4300	6503	SO:0001587	stop_gained	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559487G>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2593G>T	2.37:g.210559487G>T	ENSP00000353508:p.Glu865*					MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Nonsense_Mutation_p.E861*	p.E865*	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3099	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	865					Q17S04|Q8IUX2|Q99975|Q99976	Nonsense_Mutation	SNP	ENST00000360351.4	37	c.2593G>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	38	6.789109	0.97841	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	.	.	.	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.7915	20.0567	0.97653	0.0:0.0:1.0:0.0	.	.	.	.	X	865;861	.	ENSP00000353508:E865X	E	+	1	0	MAP2	210267732	1.000000	0.71417	0.965000	0.40720	0.947000	0.59692	9.229000	0.95273	2.752000	0.94435	0.650000	0.86243	GAA		0.468	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	77	1	0	1.00905e-13	1	1.16996e-13	21	77				
SPATA13	221178	broad.mit.edu	37	13	24858302	24858302	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:24858302G>T	ENST00000382095.4	+	4	726	c.319G>T	c.(319-321)Gcc>Tcc	p.A107S	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.A610S|SPATA13_ENST00000382108.3_Missense_Mutation_p.A732S|SPATA13_ENST00000343003.6_Missense_Mutation_p.A51S|SPATA13_ENST00000409126.1_Missense_Mutation_p.A29S|SPATA13_ENST00000424834.2_Missense_Mutation_p.A732S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A29S	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	107	ABR (APC-binding region) domain.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGAGCCCTCTGCCTTAGTGGA	0.473																																						ENST00000424834.2																			0				breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23						c.(2194-2196)Gcc>Tcc		spermatogenesis associated 13							76.0	67.0	70.0					13																	24858302		2203	4300	6503	SO:0001583	missense	221178				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity	g.chr13:24858302G>T	AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.319G>T	13.37:g.24858302G>T	ENSP00000371527:p.Ala107Ser					SPATA13_ENST00000382108.3_Missense_Mutation_p.A732S|SPATA13_ENST00000399949.2_Missense_Mutation_p.A29S|SPATA13_ENST00000343003.6_Missense_Mutation_p.A51S|SPATA13_ENST00000382095.4_Missense_Mutation_p.A107S|SPATA13_ENST00000409126.1_Missense_Mutation_p.A29S	p.A732S			Q96N96	SPT13_HUMAN		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)	7	2667	+		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)	107					A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	ENST00000382095.4	37	c.2194G>T	CCDS9305.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.42|12.42	1.932838|1.932838	0.34096|0.34096	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003;ENST00000454083|ENST00000424834	T;T;T;T;T;T;T|.	0.79749|.	-0.93;-0.62;-1.25;-0.73;-1.3;-0.67;-0.77|.	5.65|5.65	3.85|3.85	0.44370|0.44370	.|.	0.335238|.	0.34314|.	N|.	0.004065|.	T|T	0.58708|0.58708	0.2141|0.2141	L|L	0.50919|0.50919	1.6|1.6	0.38042|0.38042	D|D	0.935489|0.935489	P;B;P;B;B;B|.	0.39282|.	0.666;0.016;0.649;0.016;0.009;0.003|.	B;B;B;B;B;B|.	0.35182|.	0.097;0.015;0.197;0.02;0.015;0.004|.	T|T	0.60244|0.60244	-0.7301|-0.7301	10|5	0.16420|.	T|.	0.52|.	.|.	10.2711|10.2711	0.43483|0.43483	0.0738:0.1377:0.7884:0.0|0.0738:0.1377:0.7884:0.0	.|.	29;51;53;53;29;107|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	S|F	732;107;67;53;29;29;51;51|769	ENSP00000371542:A732S;ENSP00000371527:A107S;ENSP00000401605:A67S;ENSP00000382830:A29S;ENSP00000386471:A29S;ENSP00000343631:A51S;ENSP00000397498:A51S|.	ENSP00000343631:A51S|.	A|C	+|+	1|2	0|0	SPATA13|SPATA13	23756302|23756302	0.996000|0.996000	0.38824|0.38824	0.873000|0.873000	0.34254|0.34254	0.087000|0.087000	0.18053|0.18053	2.810000|2.810000	0.47979|0.47979	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	GCC|TGC		0.473	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044180.2	NM_153023		9	48	1	0	1.58986e-06	1	1.70727e-06	9	48				
SF3A1	10291	broad.mit.edu	37	22	30736775	30736775	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:30736775C>T	ENST00000215793.8	-	8	1252	c.1098G>A	c.(1096-1098)caG>caA	p.Q366Q	SF3A1_ENST00000439242.1_Silent_p.Q301Q	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	366					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGGGCACTTTCTGCCCTTCTT	0.572																																						ENST00000439242.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(901-903)caG>caA		splicing factor 3a, subunit 1, 120kDa							71.0	71.0	71.0					22																	30736775		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736775C>T	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1098G>A	22.37:g.30736775C>T						SF3A1_ENST00000215793.7_Silent_p.Q366Q	p.Q301Q	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN			8	1034	-			366					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.903G>A	CCDS13875.1																																																																																				0.572	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		20	118	0	0	0	1	0	20	118				
RALGAPA2	57186	broad.mit.edu	37	20	20493302	20493302	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:20493302C>G	ENST00000202677.7	-	32	4718	c.4711G>C	c.(4711-4713)Gag>Cag	p.E1571Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1571					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TACTCATCCTCTTGAGCATTT	0.468																																						ENST00000202677.6																			0				endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						c.(4711-4713)Gag>Cag		Ral GTPase activating protein, alpha subunit 2 (catalytic)							121.0	114.0	116.0					20																	20493302		1935	4136	6071	SO:0001583	missense	57186				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:20493302C>G	AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4711G>C	20.37:g.20493302C>G	ENSP00000202677:p.Glu1571Gln						p.E1571Q	NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN			32	4853	-			1571					Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	c.4711G>C	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.698415|4.698415	0.88830|0.88830	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000417022;ENST00000202677|ENST00000430436	D;D|.	0.96522|.	-4.04;-3.74|.	5.97|5.97	5.97|5.97	0.96955|0.96955	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85353|0.85353	0.5677|0.5677	M|M	0.88450|0.88450	2.955|2.955	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.994;0.999;0.994|.	D|D	0.86056|0.86056	0.1529|0.1529	10|5	0.56958|.	D|.	0.05|.	.|.	20.434|20.434	0.99088|0.99088	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1409;1571;1571|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	Q|N	1;1571|1387	ENSP00000408332:E1Q;ENSP00000202677:E1571Q|.	ENSP00000202677:E1571Q|.	E|K	-|-	1|3	0|2	RALGAPA2|RALGAPA2	20441302|20441302	1.000000|1.000000	0.71417|0.71417	0.786000|0.786000	0.31890|0.31890	0.919000|0.919000	0.55068|0.55068	7.433000|7.433000	0.80362|0.80362	2.838000|2.838000	0.97847|0.97847	0.561000|0.561000	0.74099|0.74099	GAG|AAG		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	NM_020343		21	61	0	0	0	1	0	21	61				
EARS2	124454	broad.mit.edu	37	16	23536611	23536611	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23536611T>C	ENST00000563459.1	-	8	1448	c.1442A>G	c.(1441-1443)tAc>tGc	p.Y481C	EARS2_ENST00000449606.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563232.1_Missense_Mutation_p.Y481C|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.Y481C			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	481					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CACATTACTGTACTTGGTGCC	0.483																																						ENST00000449606.1																			0				central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1441-1443)tAc>tGc		glutamyl-tRNA synthetase 2, mitochondrial	L-Glutamic Acid(DB00142)						150.0	148.0	149.0					16																	23536611		1975	4154	6129	SO:0001583	missense	124454				glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	g.chr16:23536611T>C	AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1442A>G	16.37:g.23536611T>C	ENSP00000456467:p.Tyr481Cys					EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563459.1_Missense_Mutation_p.Y481C|EARS2_ENST00000563232.1_Missense_Mutation_p.Y481C	p.Y481C	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN		GBM - Glioblastoma multiforme(48;0.0353)	8	1473	-			481					B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	ENST00000563459.1	37	c.1442A>G	CCDS42132.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184731	0.38609	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.42513	0.97	5.33	4.22	0.49857	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);Aminoacyl-tRNA synthetase, class I, anticodon-binding domain, subdomain 2 (1);	0.343767	0.35124	N	0.003424	T	0.40297	0.1111	L	0.42245	1.32	0.30774	N	0.742684	P;B	0.48694	0.914;0.003	P;B	0.46629	0.522;0.005	T	0.42548	-0.9445	10	0.39692	T	0.17	-11.4318	11.6062	0.51033	0.0:0.0:0.1494:0.8506	.	481;481	Q86YH3;Q5JPH6	.;SYEM_HUMAN	C	481	ENSP00000395196:Y481C	ENSP00000343488:Y481C	Y	-	2	0	EARS2	23444112	1.000000	0.71417	0.540000	0.28089	0.645000	0.38454	7.050000	0.76620	0.847000	0.35167	0.379000	0.24179	TAC		0.483	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434844.1	NM_133451		18	63	0	0	0	1	0	18	63				
OR8B4	283162	broad.mit.edu	37	11	124294278	124294278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124294278G>A	ENST00000356130.3	-	1	511	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	164						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R164*(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAGGTCAGTCGCAGCATGCTT	0.542																																						ENST00000356130.3																			1	Substitution - Nonsense(1)	p.R164*(1)	large_intestine(1)	endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32						c.(490-492)Cga>Tga		olfactory receptor, family 8, subfamily B, member 4							91.0	63.0	73.0					11																	124294278		2201	4299	6500	SO:0001587	stop_gained	283162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124294278G>A	AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.490C>T	11.37:g.124294278G>A	ENSP00000348449:p.Arg164*						p.R164*	NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	1	511	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	164					B2RNF8|Q6IFQ7	Nonsense_Mutation	SNP	ENST00000356130.3	37	c.490C>T	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.950292	0.53186	.	.	ENSG00000198657	ENST00000356130	.	.	.	4.02	0.253	0.15551	.	0.106321	0.41938	D	0.000795	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1545	0.20330	0.1504:0.0:0.3179:0.5317	.	.	.	.	X	164	.	ENSP00000348449:R164X	R	-	1	2	OR8B4	123799488	0.000000	0.05858	0.979000	0.43373	0.556000	0.35491	-0.751000	0.04803	0.040000	0.15660	-1.023000	0.02433	CGA		0.542	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196		11	37	0	0	0	1	0	11	37				
FAM133A	286499	broad.mit.edu	37	X	92964537	92964537	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:92964537C>T	ENST00000355813.5	+	4	645	c.119C>T	c.(118-120)aCc>aTc	p.T40I	FAM133A_ENST00000538690.1_Missense_Mutation_p.T40I|FAM133A_ENST00000322139.4_Missense_Mutation_p.T40I|FAM133A_ENST00000332647.4_Missense_Mutation_p.T40I	NM_001171109.1|NM_173698.2	NP_001164580.1|NP_775969.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	40										breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						CCAAGACCCACCTGGGAAGAA	0.378																																						ENST00000538690.1																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						c.(118-120)aCc>aTc		family with sequence similarity 133, member A							25.0	25.0	25.0					X																	92964537		2183	4279	6462	SO:0001583	missense	286499							g.chrX:92964537C>T	AK094978	CCDS14466.1	Xq21.32	2010-05-04			ENSG00000179083	ENSG00000179083			26748	protein-coding gene	gene with protein product	"""cancer/testis antigen 115"""						Standard	NM_173698		Approved	RP1-32F7.2, FLJ37659, CT115	uc022bzv.1	Q8N9E0	OTTHUMG00000021975	ENST00000355813.5:c.119C>T	X.37:g.92964537C>T	ENSP00000348067:p.Thr40Ile					FAM133A_ENST00000332647.4_Missense_Mutation_p.T40I|FAM133A_ENST00000355813.5_Missense_Mutation_p.T40I|FAM133A_ENST00000322139.4_Missense_Mutation_p.T40I	p.T40I	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN			5	680	+			40						Missense_Mutation	SNP	ENST00000355813.5	37	c.119C>T	CCDS14466.1	.	.	.	.	.	.	.	.	.	.	c	14.44	2.534817	0.45073	.	.	ENSG00000179083	ENST00000538690;ENST00000355813;ENST00000322139;ENST00000332647	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.27	2.36	0.29203	.	0.055887	0.64402	D	0.000001	T	0.42787	0.1218	M	0.83774	2.66	0.22468	N	0.99907	B	0.32573	0.376	B	0.32583	0.148	T	0.46331	-0.9199	10	0.87932	D	0	-2.6849	6.7532	0.23499	0.2783:0.7217:0.0:0.0	.	40	Q8N9E0	F133A_HUMAN	I	40	ENSP00000441389:T40I;ENSP00000348067:T40I;ENSP00000318974:T40I;ENSP00000362169:T40I	ENSP00000318974:T40I	T	+	2	0	FAM133A	92851193	0.962000	0.33011	0.567000	0.28434	0.935000	0.57460	2.801000	0.47908	0.717000	0.32145	0.591000	0.81541	ACC		0.378	FAM133A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057452.1	NM_173698		22	19	0	0	0	1	0	22	19				
RYR3	6263	broad.mit.edu	37	15	34040316	34040316	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34040316A>G	ENST00000389232.4	+	54	8061	c.7991A>G	c.(7990-7992)gAg>gGg	p.E2664G	RYR3_ENST00000415757.3_Splice_Site_p.E2664G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2664	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E2664A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTTCTAGGAGAAGGAAATT	0.547																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.E2664A(1)	large_intestine(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e54-1		ryanodine receptor 3							75.0	80.0	78.0					15																	34040316		1968	4159	6127	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34040316A>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7990-1A>G	15.37:g.34040316A>G						RYR3_ENST00000415757.3_Splice_Site_p.E2664_splice	p.E2664_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	54	8061	+		all_lung(180;7.18e-09)	2664			4 X approximate repeats.		O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.7989_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.791994	0.90453	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.93859	-3.3;-3.3	5.18	5.18	0.71444	Ryanodine receptor Ryr (1);	0.000000	0.85682	D	0.000000	D	0.97136	0.9064	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.994;1.0	D;D	0.81914	0.974;0.995	D	0.98018	1.0369	10	0.87932	D	0	.	15.191	0.73044	1.0:0.0:0.0:0.0	.	2664;2664	Q15413-2;Q15413	.;RYR3_HUMAN	G	2664	ENSP00000373884:E2664G;ENSP00000399610:E2664G	ENSP00000354735:E2664G	E	+	2	0	RYR3	31827608	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.087000	0.94110	2.164000	0.68074	0.533000	0.62120	GAG		0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	31	76	0	0	0	1	0	31	76				
ZBTB2	57621	broad.mit.edu	37	6	151687228	151687228	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:151687228C>G	ENST00000325144.4	-	3	1113	c.973G>C	c.(973-975)Gat>Cat	p.D325H		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		ATGGGAGAATCAGAGATGTGC	0.572																																						ENST00000325144.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12						c.(973-975)Gat>Cat		zinc finger and BTB domain containing 2							128.0	117.0	121.0					6																	151687228		2203	4300	6503	SO:0001583	missense	57621				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:151687228C>G	BC020172	CCDS5231.1	6q25.1	2013-01-09			ENSG00000181472	ENSG00000181472		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20868	protein-coding gene	gene with protein product						10819331	Standard	NM_020861		Approved	KIAA1483, ZNF437, bA351K16.2	uc003qoh.3	Q8N680	OTTHUMG00000015834	ENST00000325144.4:c.973G>C	6.37:g.151687228C>G	ENSP00000323183:p.Asp325His						p.D325H	NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)	3	1113	-			325					A8K7C7|Q5SZ81|Q9P245	Missense_Mutation	SNP	ENST00000325144.4	37	c.973G>C	CCDS5231.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796417	0.50208	.	.	ENSG00000181472	ENST00000325144	T	0.05580	3.42	5.76	5.76	0.90799	.	0.043017	0.85682	D	0.000000	T	0.06142	0.0159	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.12915	-1.0529	10	0.02654	T	1	-34.4572	19.976	0.97309	0.0:1.0:0.0:0.0	.	325	Q8N680	ZBTB2_HUMAN	H	325	ENSP00000323183:D325H	ENSP00000323183:D325H	D	-	1	0	ZBTB2	151728921	1.000000	0.71417	0.802000	0.32245	0.751000	0.42716	7.180000	0.77674	2.713000	0.92767	0.655000	0.94253	GAT		0.572	ZBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042715.1	NM_020861		11	110	0	0	0	1	0	11	110				
PCDHA1	56147	broad.mit.edu	37	5	140167021	140167021	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140167021C>T	ENST00000504120.2	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHA1_ENST00000378133.3_Silent_p.N382N|PCDHA1_ENST00000394633.3_Silent_p.N382N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	382	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGCCAACGGGCAGGTGA	0.562																																						ENST00000504120.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1144-1146)aaC>aaT									120.0	105.0	110.0					5																	140167021		2203	4300	6503	SO:0001819	synonymous_variant	56147							g.chr5:140167021C>T	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1146C>T	5.37:g.140167021C>T						PCDHA1_ENST00000378133.3_Silent_p.N382N|PCDHA1_ENST00000394633.3_Silent_p.N382N	p.N382N	NM_018900.2	NP_061723.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1146	+								O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	c.1146C>T	CCDS54913.1																																																																																				0.562	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		51	95	0	0	0	1	0	51	95				
TIAM1	7074	broad.mit.edu	37	21	32595868	32595868	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:32595868C>T	ENST00000286827.3	-	9	2320	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.D617N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	617					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGAAACAGGTCCATTTGGAAC	0.458																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(1849-1851)Gac>Aac		T-cell lymphoma invasion and metastasis 1							82.0	82.0	82.0					21																	32595868		2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32595868C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1849G>A	21.37:g.32595868C>T	ENSP00000286827:p.Asp617Asn					TIAM1_ENST00000541036.1_Missense_Mutation_p.D617N|TIAM1_ENST00000469412.1_5'UTR	p.D617N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			9	2320	-			617					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1849G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.988905	0.93106	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.50001	0.76;0.76	4.67	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.67145	0.995;0.985;0.996;0.991	P;B;P;P	0.56127	0.772;0.375;0.792;0.597	T	0.60234	-0.7303	10	0.52906	T	0.07	.	13.0945	0.59184	0.0:0.9223:0.0:0.0777	.	617;617;458;617	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	N	617;458;617	ENSP00000286827:D617N;ENSP00000441570:D617N	ENSP00000286827:D617N	D	-	1	0	TIAM1	31517739	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.551000	0.82182	1.324000	0.45282	0.655000	0.94253	GAC		0.458	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		14	87	0	0	0	1	0	14	87				
PFKL	5211	broad.mit.edu	37	21	45746601	45746601	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:45746601C>T	ENST00000349048.4	+	22	2254	c.2199C>T	c.(2197-2199)caC>caT	p.H733H	PFKL_ENST00000403390.1_Silent_p.H780H|AP001062.8_ENST00000422357.1_RNA	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	733	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TGCACAGGCACCGCATGCCAC	0.672																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(2338-2340)caC>caT		phosphofructokinase, liver							28.0	23.0	25.0					21																	45746601		2201	4295	6496	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45746601C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2199C>T	21.37:g.45746601C>T						PFKL_ENST00000349048.4_Silent_p.H733H	p.H780H			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	23	2340	+			733					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.2340C>T	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	C	8.074	0.770998	0.15983	.	.	ENSG00000183486	ENST00000552110	.	.	.	3.55	3.55	0.40652	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52238	-0.8602	4	.	.	.	-35.6418	6.038	0.19718	0.0:0.766:0.0:0.234	.	.	.	.	S	14	.	.	P	+	1	0	MX2	44571029	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.735000	0.55044	1.680000	0.50976	0.453000	0.30009	CCG		0.672	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			5	10	0	0	0	1	0	5	10				
KIF1A	547	broad.mit.edu	37	2	241702674	241702674	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702674C>T	ENST00000320389.7	-	20	1989	c.1831G>A	c.(1831-1833)Gag>Aag	p.E611K	KIF1A_ENST00000498729.2_Missense_Mutation_p.E620K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	611					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTGGCGTCTCCGCACAAGGC	0.637																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1858-1860)Gag>Aag		kinesin family member 1A							23.0	26.0	25.0					2																	241702674		2139	4255	6394	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702674C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1831G>A	2.37:g.241702674C>T	ENSP00000322791:p.Glu611Lys					KIF1A_ENST00000320389.7_Missense_Mutation_p.E611K	p.E620K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	21	2104	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	611					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1858G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.218281	0.39201	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73897	-0.79;-0.79;-0.79	3.93	3.93	0.45458	.	0.058603	0.64402	U	0.000003	T	0.74809	0.3765	M	0.81239	2.535	0.80722	D	1	B;B;B	0.12013	0.001;0.005;0.004	B;B;B	0.13407	0.009;0.007;0.003	T	0.73007	-0.4118	10	0.24483	T	0.36	.	16.3222	0.82954	0.0:1.0:0.0:0.0	.	620;620;611	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	K	611;620;620;620	ENSP00000322791:E611K;ENSP00000438388:E620K;ENSP00000384231:E620K	ENSP00000322791:E611K	E	-	1	0	KIF1A	241351347	1.000000	0.71417	0.797000	0.32132	0.094000	0.18550	7.486000	0.81215	1.915000	0.55452	0.467000	0.42956	GAG		0.637	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	22	0	0	0	1	0	5	22				
ZNRF3	84133	broad.mit.edu	37	22	29444377	29444377	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:29444377G>A	ENST00000544604.2	+	7	1088	c.913G>A	c.(913-915)Gag>Aag	p.E305K	ZNRF3_ENST00000332811.4_Splice_Site_p.E205K|ZNRF3_ENST00000406323.3_Splice_Site_p.E205K|ZNRF3_ENST00000402174.1_Splice_Site_p.E205K	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	305					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCCTGCCCAGGAGCTGCGGGT	0.617																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.e7-1		zinc and ring finger 3							67.0	81.0	76.0					22																	29444377		2140	4239	6379	SO:0001630	splice_region_variant	84133					integral to membrane	zinc ion binding	g.chr22:29444377G>A	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.913-1G>A	22.37:g.29444377G>A						ZNRF3_ENST00000402174.1_Splice_Site_p.E205_splice|ZNRF3_ENST00000332811.4_Splice_Site_p.E205_splice|ZNRF3_ENST00000406323.3_Splice_Site_p.E205_splice	p.E305_splice	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			7	1088	+			305					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	SNP	ENST00000544604.2	37	c.912_splice	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439389	0.83885	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.048055	0.85682	D	0.000000	T	0.31765	0.0807	N	0.25332	0.735	0.80722	D	1	B	0.33807	0.426	B	0.31101	0.124	T	0.06427	-1.0827	9	.	.	.	-13.7868	18.2514	0.90005	0.0:0.0:1.0:0.0	.	305	Q9ULT6	ZNRF3_HUMAN	K	305;205;205;205	ENSP00000443824:E305K;ENSP00000328614:E205K;ENSP00000384456:E205K;ENSP00000384553:E205K	.	E	+	1	0	ZNRF3	27774377	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.428000	0.97476	2.550000	0.86006	0.650000	0.86243	GAG		0.617	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Missense_Mutation	11	55	0	0	0	1	0	11	55				
BCL11B	64919	broad.mit.edu	37	14	99642174	99642174	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:99642174C>T	ENST00000357195.3	-	4	1008	c.999G>A	c.(997-999)gaG>gaA	p.E333E	BCL11B_ENST00000443726.2_Silent_p.E139E|BCL11B_ENST00000345514.2_Silent_p.E262E	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	333					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCCATCTCCTCGGCACTGA	0.736			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(784-786)gaG>gaA		B-cell CLL/lymphoma 11B (zinc finger protein)							8.0	8.0	8.0					14																	99642174		2124	4152	6276	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99642174C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.999G>A	14.37:g.99642174C>T						BCL11B_ENST00000357195.3_Silent_p.E333E|BCL11B_ENST00000443726.2_Silent_p.E139E	p.E262E	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1052	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	333					Q9H162	Silent	SNP	ENST00000357195.3	37	c.786G>A	CCDS9950.1																																																																																				0.736	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		3	6	0	0	0	1	0	3	6				
NEK11	79858	broad.mit.edu	37	3	130799420	130799420	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:130799420G>T	ENST00000510769.1	+	3	577	c.324G>T	c.(322-324)acG>acT	p.T108T	NEK11_ENST00000429253.2_Silent_p.T108T|NEK11_ENST00000508196.1_Silent_p.T108T|NEK11_ENST00000356918.4_Silent_p.T108T|NEK11_ENST00000507910.1_Silent_p.T108T|NEK11_ENST00000511262.1_Silent_p.T108T|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510688.1_Silent_p.T108T|NEK11_ENST00000383366.4_Silent_p.T108T					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GCATTATCACGGAGTACTGTG	0.418																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(322-324)acG>acT		NIMA-related kinase 11							100.0	88.0	92.0					3																	130799420		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130799420G>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.324G>T	3.37:g.130799420G>T						NEK11_ENST00000356918.4_Silent_p.T108T|NEK11_ENST00000510688.1_Silent_p.T108T|NEK11_ENST00000511262.1_Silent_p.T108T|NEK11_ENST00000508196.1_Silent_p.T108T|NEK11_ENST00000507910.1_Silent_p.T108T|NEK11_ENST00000429253.2_Silent_p.T108T|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510769.1_Silent_p.T108T	p.T108T	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			4	617	+			108		T -> M (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.			Silent	SNP	ENST00000510769.1	37	c.324G>T																																																																																					0.418	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		11	71	1	0	7.03913e-09	1	7.70111e-09	11	71				
DSCAML1	57453	broad.mit.edu	37	11	117395557	117395557	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:117395557G>T	ENST00000321322.6	-	5	1081	c.1080C>A	c.(1078-1080)ttC>ttA	p.F360L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F90L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	300	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCCGAACCGAAGGTGTTGG	0.637																																						ENST00000321322.6																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(1078-1080)ttC>ttA		Down syndrome cell adhesion molecule like 1							49.0	39.0	42.0					11																	117395557		2201	4296	6497	SO:0001583	missense	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117395557G>T		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1080C>A	11.37:g.117395557G>T	ENSP00000315465:p.Phe360Leu					DSCAML1_ENST00000527706.1_Missense_Mutation_p.F90L	p.F360L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	5	1081	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	300			Ig-like C2-type 4.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	ENST00000321322.6	37	c.1080C>A	CCDS8384.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285676	0.40394	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.65916	-0.18;-0.18	4.79	-3.23	0.05109	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46190	0.1380	N	0.04768	-0.165	0.48830	D	0.999714	B;B	0.31026	0.304;0.042	P;B	0.46275	0.51;0.171	T	0.27331	-1.0077	9	0.12430	T	0.62	.	12.8729	0.57975	0.5797:0.0:0.4203:0.0	.	90;300	G3V1B5;Q8TD84	.;DSCL1_HUMAN	L	90;360;67	ENSP00000434335:F90L;ENSP00000315465:F360L	ENSP00000315465:F360L	F	-	3	2	DSCAML1	116900767	0.876000	0.30132	0.942000	0.38095	0.952000	0.60782	-0.023000	0.12456	-0.538000	0.06281	-0.263000	0.10527	TTC		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	NM_020693		3	10	1	0	6.4e-05	1	6.72919e-05	3	10				
KRT9	3857	broad.mit.edu	37	17	39724874	39724874	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:39724874G>A	ENST00000246662.4	-	5	1121	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	KRT9_ENST00000588431.1_Silent_p.I119I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	352	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CCTCATGCTCGATCTGGGTTA	0.552																																						ENST00000246662.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1054-1056)atC>atT		keratin 9							278.0	261.0	266.0					17																	39724874		2203	4300	6503	SO:0001819	synonymous_variant	3857				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	g.chr17:39724874G>A		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1056C>T	17.37:g.39724874G>A						KRT9_ENST00000588431.1_Silent_p.I119I	p.I352I	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN			5	1121	-		Breast(137;0.000307)	352			Coil 2.|Rod.		O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	c.1056C>T	CCDS32654.1																																																																																				0.552	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257707.1	NM_000226		6	371	0	0	0	1	0	6	371				
HEPH	9843	broad.mit.edu	37	X	65413476	65413476	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:65413476C>A	ENST00000343002.2	+	7	2029	c.1365C>A	c.(1363-1365)atC>atA	p.I455I	HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000374727.3_Silent_p.I458I|HEPH_ENST00000519389.1_Silent_p.I509I|HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000336279.5_Silent_p.I188I			Q9BQS7	HEPH_HUMAN	hephaestin	455	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCTTGGAATCCTGGGTGAGG	0.423																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(1525-1527)atC>atA		hephaestin							41.0	37.0	38.0					X																	65413476		2203	4300	6503	SO:0001819	synonymous_variant	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65413476C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1365C>A	X.37:g.65413476C>A						HEPH_ENST00000374727.3_Silent_p.I458I|HEPH_ENST00000419594.1_Silent_p.I458I|HEPH_ENST00000441993.2_Silent_p.I458I|HEPH_ENST00000343002.2_Silent_p.I455I|HEPH_ENST00000336279.5_Silent_p.I188I	p.I509I			Q9BQS7	HEPH_HUMAN			8	1706	+			455			Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	ENST00000343002.2	37	c.1527C>A																																																																																					0.423	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		22	14	1	0	5.26018e-13	1	6.03882e-13	22	14				
HOXB2	3212	broad.mit.edu	37	17	46621910	46621910	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:46621910G>A	ENST00000330070.4	-	1	1531	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000502764.2_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	122					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCGGAGGCCGGAACGGCGGAG	0.642																																						ENST00000330070.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(364-366)Ccg>Tcg		homeobox B2							14.0	23.0	20.0					17																	46621910		2181	4284	6465	SO:0001583	missense	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46621910G>A		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.364C>T	17.37:g.46621910G>A	ENSP00000331741:p.Pro122Ser					HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.P122S	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1531	-			122					P10913|P17485	Missense_Mutation	SNP	ENST00000330070.4	37	c.364C>T	CCDS11527.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.24|12.24	1.878895|1.878895	0.33162|0.33162	.|.	.|.	ENSG00000173917|ENSG00000173917	ENST00000330070|ENST00000326226	D|.	0.90732|.	-2.72|.	4.78|4.78	0.451|0.451	0.16629|0.16629	.|.	0.476193|.	0.21854|.	N|.	0.068135|.	T|T	0.10423|0.10423	0.0255|0.0255	N|N	0.01576|0.01576	-0.805|-0.805	0.27614|0.27614	N|N	0.948557|0.948557	B|.	0.13594|.	0.008|.	B|.	0.08055|.	0.003|.	T|T	0.23691|0.23691	-1.0181|-1.0181	10|6	0.05959|0.44086	T|T	0.93|0.13	.|.	6.1414|6.1414	0.20261|0.20261	0.2322:0.1356:0.6322:0.0|0.2322:0.1356:0.6322:0.0	.|.	122|.	P14652|.	HXB2_HUMAN|.	S|F	122|36	ENSP00000331741:P122S|.	ENSP00000331741:P122S|ENSP00000316334:S36F	P|S	-|-	1|2	0|0	HOXB2|HOXB2	43976909|43976909	1.000000|1.000000	0.71417|0.71417	0.334000|0.334000	0.25495|0.25495	0.819000|0.819000	0.46315|0.46315	3.521000|3.521000	0.53472|0.53472	-0.015000|-0.015000	0.14150|0.14150	0.650000|0.650000	0.86243|0.86243	CCG|TCC		0.642	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			4	10	0	0	0	1	0	4	10				
MERTK	10461	broad.mit.edu	37	2	112786262	112786262	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:112786262C>G	ENST00000295408.4	+	19	3078	c.2821C>G	c.(2821-2823)Ctg>Gtg	p.L941V	MERTK_ENST00000421804.2_Missense_Mutation_p.L941V|MERTK_ENST00000409780.1_Missense_Mutation_p.L765V			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	941					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATGGGAAGATCTGACTTCTGC	0.537																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2821-2823)Ctg>Gtg		c-mer proto-oncogene tyrosine kinase							76.0	69.0	71.0					2																	112786262		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112786262C>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2821C>G	2.37:g.112786262C>G	ENSP00000295408:p.Leu941Val					MERTK_ENST00000421804.2_Missense_Mutation_p.L941V|MERTK_ENST00000409780.1_Missense_Mutation_p.L765V	p.L941V			Q12866	MERTK_HUMAN			19	3078	+			941					Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2821C>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	C	0.134	-1.110496	0.01813	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780	T;T;T	0.74526	-0.84;-0.84;-0.85	5.72	1.83	0.25207	.	1.144270	0.07061	N	0.833681	T	0.62612	0.2442	N	0.22421	0.69	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.47249	-0.9132	10	0.34782	T	0.22	3.5765	11.5289	0.50597	0.0:0.573:0.3619:0.0651	.	941	Q12866	MERTK_HUMAN	V	941;941;765	ENSP00000295408:L941V;ENSP00000389152:L941V;ENSP00000387277:L765V	ENSP00000295408:L941V	L	+	1	2	MERTK	112502733	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.384000	0.20668	0.053000	0.16036	-0.122000	0.15005	CTG		0.537	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			27	50	0	0	0	1	0	27	50				
CACNG3	10368	broad.mit.edu	37	16	24366162	24366162	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:24366162A>T	ENST00000005284.3	+	3	1506	c.304A>T	c.(304-306)Agg>Tgg	p.R102W		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	102					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGGAGCTGTGAGGGCCTCCAG	0.632																																						ENST00000005284.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(304-306)Agg>Tgg		calcium channel, voltage-dependent, gamma subunit 3							75.0	60.0	65.0					16																	24366162		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366162A>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.304A>T	16.37:g.24366162A>T	ENSP00000005284:p.Arg102Trp						p.R102W	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1506	+			102						Missense_Mutation	SNP	ENST00000005284.3	37	c.304A>T	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.088189	0.76642	.	.	ENSG00000006116	ENST00000005284	T	0.60920	0.15	5.26	2.92	0.33932	.	0.052820	0.64402	D	0.000001	T	0.76364	0.3977	M	0.89095	3.005	0.53688	D	0.999978	D	0.76494	0.999	D	0.65443	0.935	T	0.78996	-0.1983	10	0.87932	D	0	-13.7887	11.8393	0.52344	0.5684:0.4316:0.0:0.0	.	102	O60359	CCG3_HUMAN	W	102	ENSP00000005284:R102W	ENSP00000005284:R102W	R	+	1	2	CACNG3	24273663	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.220000	0.42908	0.403000	0.25479	0.459000	0.35465	AGG		0.632	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		20	60	0	0	0	1	0	20	60				
HCN1	348980	broad.mit.edu	37	5	45267355	45267355	+	Splice_Site	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:45267355T>A	ENST00000303230.4	-	7	1676	c.1619A>T	c.(1618-1620)gAg>gTg	p.E540V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	540					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCAAATCTCTATAAAAAC	0.393																																						ENST00000303230.4																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.e7-1		hyperpolarization activated cyclic nucleotide-gated potassium channel 1							81.0	77.0	79.0					5																	45267355		2203	4300	6503	SO:0001630	splice_region_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45267355T>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1619-1A>T	5.37:g.45267355T>A							p.E540_splice	NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN			7	1676	-			540						Splice_Site	SNP	ENST00000303230.4	37	c.1618_splice	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.937517	0.92458	.	.	ENSG00000164588	ENST00000303230	D	0.98221	-4.8	5.82	5.82	0.92795	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.64402	D	0.000002	D	0.99521	0.9829	H	0.99675	4.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97679	1.0171	10	0.87932	D	0	.	16.1726	0.81828	0.0:0.0:0.0:1.0	.	540	O60741	HCN1_HUMAN	V	540	ENSP00000307342:E540V	ENSP00000307342:E540V	E	-	2	0	HCN1	45303112	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.698000	0.84413	2.232000	0.73038	0.482000	0.46254	GAG		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	Missense_Mutation	10	90	0	0	0	1	0	10	90				
HUWE1	10075	broad.mit.edu	37	X	53641650	53641650	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:53641650T>C	ENST00000342160.3	-	22	2563	c.2106A>G	c.(2104-2106)ccA>ccG	p.P702P	HUWE1_ENST00000218328.8_Silent_p.P702P|HUWE1_ENST00000262854.6_Silent_p.P702P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	702					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCTGGATTGATGGCTTCTGAC	0.453																																						ENST00000342160.3																			0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(2104-2106)ccA>ccG		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase							109.0	91.0	97.0					X																	53641650		2203	4300	6503	SO:0001819	synonymous_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53641650T>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2106A>G	X.37:g.53641650T>C						HUWE1_ENST00000262854.6_Silent_p.P702P|HUWE1_ENST00000218328.8_Silent_p.P702P	p.P702P			Q7Z6Z7	HUWE1_HUMAN			22	2563	-			702					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	ENST00000342160.3	37	c.2106A>G	CCDS35301.1																																																																																				0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		34	22	0	0	0	1	0	34	22				
ATG2A	23130	broad.mit.edu	37	11	64665373	64665373	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:64665373C>T	ENST00000377264.3	-	35	5044	c.4932G>A	c.(4930-4932)tcG>tcA	p.S1644S	ATG2A_ENST00000421419.2_Silent_p.S1646S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1644					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.S1644S(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GGGCCTCCTGCGAACCAGTGG	0.697																																						ENST00000421419.2																			1	Substitution - coding silent(1)	p.S1644S(1)	prostate(1)	breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						c.(4936-4938)tcG>tcA		autophagy related 2A							31.0	36.0	34.0					11																	64665373		2200	4297	6497	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64665373C>T		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4932G>A	11.37:g.64665373C>T						ATG2A_ENST00000377264.3_Silent_p.S1644S	p.S1646S			Q2TAZ0	ATG2A_HUMAN			35	5052	-			1644					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.4938G>A	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	C	3.639	-0.073960	0.07184	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.38	-7.03	0.01584	.	.	.	.	.	T	0.16938	0.0407	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	2.4309	0.04471	0.1468:0.3975:0.1884:0.2673	.	.	.	.	T	1448	.	.	A	-	1	0	ATG2A	64421949	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.694000	0.01915	-1.802000	0.01244	-1.134000	0.01955	GCA		0.697	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		11	54	0	0	0	1	0	11	54				
DPYSL2	1808	broad.mit.edu	37	8	26481755	26481755	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:26481755T>A	ENST00000311151.5	+	4	822	c.410T>A	c.(409-411)cTg>cAg	p.L137Q	DPYSL2_ENST00000523027.1_Missense_Mutation_p.L101Q|DPYSL2_ENST00000521913.1_Missense_Mutation_p.L101Q	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	137					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GACTACTCTCTGCATGTGGAC	0.557																																						ENST00000311151.5																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20						c.(409-411)cTg>cAg		dihydropyrimidinase-like 2							182.0	151.0	162.0					8																	26481755		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26481755T>A	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.410T>A	8.37:g.26481755T>A	ENSP00000309539:p.Leu137Gln					DPYSL2_ENST00000523027.1_Missense_Mutation_p.L101Q|DPYSL2_ENST00000521913.1_Missense_Mutation_p.L101Q	p.L137Q	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	4	822	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	137					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.410T>A	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.032859	0.93575	.	.	ENSG00000092964	ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.75	5.75	0.90469	Amidohydrolase 1 (1);	0.000000	0.64402	D	0.000001	D	0.96830	0.8965	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.988;0.997;0.999	D	0.97987	1.0352	10	0.87932	D	0	-14.7212	16.0519	0.80769	0.0:0.0:0.0:1.0	.	137;137;193	Q53ET2;Q16555;Q59GB4	.;DPYL2_HUMAN;.	Q	101;137;137;101	ENSP00000427985:L101Q;ENSP00000309539:L137Q;ENSP00000428909:L137Q;ENSP00000431117:L101Q	ENSP00000309539:L137Q	L	+	2	0	DPYSL2	26537672	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.040000	0.89188	2.196000	0.70406	0.533000	0.62120	CTG		0.557	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3	NM_001386		18	53	0	0	0	1	0	18	53				
SULF1	23213	broad.mit.edu	37	8	70514020	70514020	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:70514020T>G	ENST00000260128.4	+	10	1734	c.1017T>G	c.(1015-1017)cgT>cgG	p.R339R	SULF1_ENST00000402687.4_Silent_p.R339R|SULF1_ENST00000458141.2_Silent_p.R339R|SULF1_ENST00000419716.3_Silent_p.R339R|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTGATATTCGTGTGCCTTTTT	0.418																																						ENST00000260128.4																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(1015-1017)cgT>cgG		sulfatase 1							406.0	350.0	369.0					8																	70514020		2203	4300	6503	SO:0001819	synonymous_variant	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70514020T>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1017T>G	8.37:g.70514020T>G						SULF1_ENST00000458141.2_Silent_p.R339R|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.R339R|SULF1_ENST00000402687.4_Silent_p.R339R	p.R339R	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		10	1734	+	Breast(64;0.0654)		339					Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	37	c.1017T>G	CCDS6204.1																																																																																				0.418	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		71	270	0	0	0	1	0	71	270				
RTN1	6252	broad.mit.edu	37	14	60212702	60212702	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:60212702C>A	ENST00000267484.5	-	2	1074	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	247			G -> E (in dbSNP:rs35645652).		neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATGATTTTTCCCTCCACAGGA	0.448																																						ENST00000267484.5																			0				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49						c.(739-741)Gga>Tga		reticulon 1							190.0	189.0	189.0					14																	60212702		2203	4300	6503	SO:0001587	stop_gained	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60212702C>A	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.739G>T	14.37:g.60212702C>A	ENSP00000267484:p.Gly247*						p.G247*	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	2	1074	-			247		G -> E (in dbSNP:rs35645652).			Q16800|Q16801|Q5BKZ4|Q9BQ59	Nonsense_Mutation	SNP	ENST00000267484.5	37	c.739G>T	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	C	38	7.001658	0.97994	.	.	ENSG00000139970	ENST00000267484;ENST00000433623	.	.	.	5.16	4.27	0.50696	.	0.796752	0.11802	N	0.528001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	8.6447	0.33998	0.0:0.7778:0.0:0.2222	.	.	.	.	X	247;173	.	ENSP00000267484:G247X	G	-	1	0	RTN1	59282455	0.993000	0.37304	0.999000	0.59377	0.852000	0.48524	2.977000	0.49297	1.177000	0.42855	-0.262000	0.10625	GGA		0.448	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			59	125	1	0	5.22555e-25	1	6.44423e-25	59	125				
KIF1A	547	broad.mit.edu	37	2	241702692	241702692	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:241702692C>T	ENST00000320389.7	-	20	1971	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	KIF1A_ENST00000498729.2_Missense_Mutation_p.E614K	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	605					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGCGTGCGCTCACGCTCCTGC	0.627																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1840-1842)Gag>Aag		kinesin family member 1A							23.0	26.0	25.0					2																	241702692		2125	4251	6376	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241702692C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1813G>A	2.37:g.241702692C>T	ENSP00000322791:p.Glu605Lys					KIF1A_ENST00000320389.7_Missense_Mutation_p.E605K	p.E614K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	21	2086	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	605					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1840G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.117180	0.56505	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.74209	-0.82;-0.82;-0.82	3.93	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.69655	0.3135	L	0.48362	1.52	0.80722	D	1	B;B;B	0.29341	0.075;0.119;0.242	B;B;B	0.31290	0.127;0.045;0.053	T	0.70766	-0.4783	10	0.44086	T	0.13	.	16.3222	0.82954	0.0:1.0:0.0:0.0	.	614;614;605	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	K	605;614;614;614	ENSP00000322791:E605K;ENSP00000438388:E614K;ENSP00000384231:E614K	ENSP00000322791:E605K	E	-	1	0	KIF1A	241351365	1.000000	0.71417	0.990000	0.47175	0.435000	0.31806	7.486000	0.81215	1.915000	0.55452	0.467000	0.42956	GAG		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		5	18	0	0	0	1	0	5	18				
APEX2	27301	broad.mit.edu	37	X	55033053	55033053	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:55033053C>T	ENST00000374987.3	+	6	808	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	APEX2_ENST00000471758.1_3'UTR|ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	248					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CGATAGCTACCGCTGCTTCCA	0.587								Other BER factors																														ENST00000374987.3																			0				breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						c.(742-744)Cgc>Tgc	Other BER factors	APEX nuclease (apurinic/apyrimidinic endonuclease) 2							33.0	31.0	32.0					X																	55033053		2203	4299	6502	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033053C>T	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.742C>T	X.37:g.55033053C>T	ENSP00000364126:p.Arg248Cys					APEX2_ENST00000471758.1_3'UTR	p.R248C	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN			6	808	+			248					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.742C>T	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.492951	0.84962	.	.	ENSG00000169188	ENST00000374987	T	0.70399	-0.48	4.53	4.53	0.55603	Endonuclease/exonuclease/phosphatase (2);	0.049753	0.85682	D	0.000000	D	0.89594	0.6760	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93427	0.6782	10	0.87932	D	0	-8.6717	15.9128	0.79485	0.0:1.0:0.0:0.0	.	248	Q9UBZ4	APEX2_HUMAN	C	248	ENSP00000364126:R248C	ENSP00000364126:R248C	R	+	1	0	APEX2	55049778	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.499000	0.73683	2.206000	0.71126	0.600000	0.82982	CGC		0.587	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			9	8	0	0	0	1	0	9	8				
PAPPA	5069	broad.mit.edu	37	9	119115159	119115159	+	Missense_Mutation	SNP	G	G	C	rs377742343		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:119115159G>C	ENST00000328252.3	+	16	4508	c.4139G>C	c.(4138-4140)gGa>gCa	p.G1380A	PAPPA_ENST00000534838.1_Missense_Mutation_p.G418A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1380	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGCAAGCCTGGATACCATGTG	0.527																																						ENST00000328252.3																			0				NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						c.(4138-4140)gGa>gCa		pregnancy-associated plasma protein A, pappalysin 1							61.0	58.0	59.0					9																	119115159		2203	4300	6503	SO:0001583	missense	5069				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	g.chr9:119115159G>C		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.4139G>C	9.37:g.119115159G>C	ENSP00000330658:p.Gly1380Ala					PAPPA_ENST00000534838.1_Missense_Mutation_p.G418A	p.G1380A	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN			16	4508	+			1380			Sushi 3.		B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	c.4139G>C	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	32	5.154325	0.94686	.	.	ENSG00000182752	ENST00000328252;ENST00000534838	T;T	0.76968	-1.06;-1.06	5.85	5.85	0.93711	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.89698	0.6790	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90038	0.4140	10	0.72032	D	0.01	-10.9486	20.1653	0.98150	0.0:0.0:1.0:0.0	.	418;1380	F5GZ19;Q13219	.;PAPP1_HUMAN	A	1380;418	ENSP00000330658:G1380A;ENSP00000441461:G418A	ENSP00000330658:G1380A	G	+	2	0	PAPPA	118154980	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.827000	0.99397	2.768000	0.95171	0.655000	0.94253	GGA		0.527	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581		26	18	0	0	0	1	0	26	18				
KATNBL1	79768	broad.mit.edu	37	15	34440901	34440901	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34440901C>G	ENST00000256544.3	-	5	631	c.489G>C	c.(487-489)atG>atC	p.M163I		NM_024713.2	NP_078989.1	Q9H079	KTBL1_HUMAN	katanin p80 subunit B-like 1	163						nucleolus (GO:0005730)											CATTCAATCTCATATTCCTGC	0.363																																						ENST00000256544.3																			0											c.(487-489)atG>atC		katanin p80 subunit B-like 1							92.0	78.0	83.0					15																	34440901		2201	4298	6499	SO:0001583	missense	79768							g.chr15:34440901C>G	AL136908	CCDS10034.1	15q13.2	2012-09-27	2012-09-27	2012-09-27	ENSG00000134152	ENSG00000134152			26199	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 29"""	C15orf29		11230166	Standard	NM_024713		Approved	FLJ22557	uc001zhp.3	Q9H079	OTTHUMG00000129368	ENST00000256544.3:c.489G>C	15.37:g.34440901C>G	ENSP00000256544:p.Met163Ile						p.M163I	NM_024713.2	NP_078989.1					5	631	-								A8KAF6|Q2TAC0|Q9H670	Missense_Mutation	SNP	ENST00000256544.3	37	c.489G>C	CCDS10034.1	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203599	0.38905	.	.	ENSG00000134152	ENST00000256544;ENST00000540594	.	.	.	4.85	4.85	0.62838	.	0.123265	0.56097	D	0.000031	T	0.24774	0.0601	N	0.14661	0.345	0.27180	N	0.960683	B	0.02656	0.0	B	0.01281	0.0	T	0.07947	-1.0746	9	0.33940	T	0.23	.	9.9051	0.41370	0.1549:0.6952:0.1498:0.0	.	163	Q9H079	CO029_HUMAN	I	163;67	.	ENSP00000256544:M163I	M	-	3	0	C15orf29	32228193	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.602000	0.24134	2.528000	0.85240	0.585000	0.79938	ATG		0.363	KATNBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251520.1	NM_024713		9	64	0	0	0	1	0	9	64				
NOBOX	135935	broad.mit.edu	37	7	144096925	144096925	+	Missense_Mutation	SNP	C	C	T	rs199538689		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144096925C>T	ENST00000467773.1	-	6	1078	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q|NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	360			R -> Q. {ECO:0000269|PubMed:17701902}.		oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCCATTTTTCGCCACTTGGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		20442	0.0		0.001	False		,,,				2504	0.0					ENST00000467773.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26						c.(1078-1080)cGa>cAa		NOBOX oogenesis homeobox		C	GLN/ARG	0,3904		0,0,1952	92.0	95.0	94.0		1079	5.6	0.6	7		94	4,8300		0,4,4148	yes	missense	NOBOX	NM_001080413.3	43	0,4,6100	TT,TC,CC		0.0482,0.0,0.0328	probably-damaging	360/692	144096925	4,12204	1952	4152	6104	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144096925C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.1079G>A	7.37:g.144096925C>T	ENSP00000419457:p.Arg360Gln					NOBOX_ENST00000483238.1_Missense_Mutation_p.R328Q|NOBOX_ENST00000223140.5_Missense_Mutation_p.R243Q	p.R360Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN			6	1078	-	Melanoma(164;0.14)		360		R -> Q.			A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.1079G>A		.	.	.	.	.	.	.	.	.	.	C	26.4	4.736434	0.89482	0.0	4.82E-4	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140;ENST00000555556	D;D;D	0.97553	-4.43;-4.13;-4.43	5.55	5.55	0.83447	Homeodomain-related (1);Homeobox (2);	0.319059	0.26832	N	0.022267	D	0.98651	0.9548	M	0.88570	2.965	0.37940	D	0.932283	D	0.89917	1.0	D	0.83275	0.996	D	0.99954	1.1590	10	0.87932	D	0	-18.9644	17.0118	0.86408	0.0:1.0:0.0:0.0	.	360	O60393	NOBOX_HUMAN	Q	328;360;243;117	ENSP00000419565:R328Q;ENSP00000419457:R360Q;ENSP00000223140:R243Q	ENSP00000223140:R243Q	R	-	2	0	NOBOX	143727858	0.994000	0.37717	0.561000	0.28357	0.801000	0.45260	5.277000	0.65586	2.615000	0.88500	0.650000	0.86243	CGA		0.527	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		9	15	0	0	0	1	0	9	15				
ZNF384	171017	broad.mit.edu	37	12	6787456	6787456	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:6787456C>T	ENST00000396801.3	-	6	730	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ZNF384_ENST00000361959.3_Missense_Mutation_p.E175K|ZNF384_ENST00000355772.4_Missense_Mutation_p.E120K|ZNF384_ENST00000396799.2_Missense_Mutation_p.E175K|ZNF384_ENST00000396795.1_Missense_Mutation_p.E175K|ZNF384_ENST00000319770.3_Missense_Mutation_p.E159K	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	175					nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGCCTCCTTCCTCGGTTAGG	0.607			T	"""EWSR1, TAF15 """	ALL																																	ENST00000396795.1				Dom	yes		12	12p13	171017	T	zinc finger protein 384 (CIZ/NMP4)			L	"""EWSR1, TAF15 """		ALL	EWSR1/ZNF384(4)	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						c.(523-525)Gaa>Aaa		zinc finger protein 384							65.0	63.0	64.0					12																	6787456		2203	4300	6503	SO:0001583	missense	171017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:6787456C>T	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.523G>A	12.37:g.6787456C>T	ENSP00000380019:p.Glu175Lys					ZNF384_ENST00000396801.3_Missense_Mutation_p.E175K|ZNF384_ENST00000361959.3_Missense_Mutation_p.E175K|ZNF384_ENST00000355772.4_Missense_Mutation_p.E120K|ZNF384_ENST00000319770.3_Missense_Mutation_p.E159K|ZNF384_ENST00000396799.2_Missense_Mutation_p.E175K	p.E175K			Q8TF68	ZN384_HUMAN			5	1020	-			175					O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	37	c.523G>A	CCDS44817.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642272	0.47153	.	.	ENSG00000126746	ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799;ENST00000417772;ENST00000436774;ENST00000542796;ENST00000540915;ENST00000535485	T;T;T;T;T;T;T	0.07688	3.32;3.26;3.17;3.17;3.2;3.26;3.59	5.56	5.56	0.83823	.	0.329400	0.27323	N	0.019893	T	0.11239	0.0274	N	0.03608	-0.345	0.47037	D	0.999299	B;P;D;B;B	0.56035	0.055;0.765;0.974;0.08;0.08	B;P;D;B;B	0.67725	0.012;0.57;0.953;0.058;0.084	T	0.54159	-0.8335	10	0.23302	T	0.38	-13.5159	17.7137	0.88330	0.0:1.0:0.0:0.0	.	175;175;120;159;175	Q8TF68;E9PHB3;Q8TF68-3;F8W6Q3;Q8TF68-2	ZN384_HUMAN;.;.;.;.	K	159;175;175;175;120;175;175;159;159;175;159	ENSP00000321650:E159K;ENSP00000380013:E175K;ENSP00000380019:E175K;ENSP00000354592:E175K;ENSP00000348018:E120K;ENSP00000380017:E175K;ENSP00000412911:E159K	ENSP00000321650:E159K	E	-	1	0	ZNF384	6657717	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.279000	0.58953	2.608000	0.88229	0.591000	0.81541	GAA		0.607	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1			14	63	0	0	0	1	0	14	63				
ZBP1	81030	broad.mit.edu	37	20	56186819	56186819	+	Nonsense_Mutation	SNP	C	C	A	rs536878834		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:56186819C>A	ENST00000371173.3	-	6	1015	c.838G>T	c.(838-840)Gag>Tag	p.E280*	ZBP1_ENST00000395822.3_Nonsense_Mutation_p.E205*|ZBP1_ENST00000340462.4_Nonsense_Mutation_p.E257*|ZBP1_ENST00000343535.4_Nonsense_Mutation_p.E280*	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	280					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GCAGGGCCCTCGGACGGGACG	0.647																																						ENST00000340462.4																			0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(769-771)Gag>Tag		Z-DNA binding protein 1							23.0	27.0	26.0					20																	56186819		2203	4300	6503	SO:0001587	stop_gained	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56186819C>A	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.838G>T	20.37:g.56186819C>A	ENSP00000360215:p.Glu280*					ZBP1_ENST00000343535.4_Nonsense_Mutation_p.E280*|ZBP1_ENST00000371173.3_Nonsense_Mutation_p.E280*|ZBP1_ENST00000395822.3_Nonsense_Mutation_p.E205*	p.E257*			Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		5	1049	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		280					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Nonsense_Mutation	SNP	ENST00000371173.3	37	c.769G>T	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378709	0.82682	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000340462;ENST00000357677;ENST00000343535	.	.	.	3.25	-3.53	0.04667	.	0.831833	0.10066	N	0.720257	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-3.5936	4.1943	0.10437	0.0:0.318:0.3269:0.3551	.	.	.	.	X	280;205;257;280;280	.	ENSP00000344954:E257X	E	-	1	0	ZBP1	55620225	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.839000	0.04368	-0.697000	0.05092	0.555000	0.69702	GAG		0.647	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		7	14	1	0	0.000442599	1	0.000461096	7	14				
HOXC9	3225	broad.mit.edu	37	12	54396386	54396386	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:54396386A>G	ENST00000303450.4	+	2	781	c.711A>G	c.(709-711)aaA>aaG	p.K237K	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Silent_p.K237K|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_3'UTR	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	237					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GGCAGGTCAAAATCTGGTTTC	0.488																																						ENST00000303450.4																			0				large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(709-711)aaA>aaG		homeobox C9							54.0	59.0	57.0					12																	54396386		2203	4300	6503	SO:0001819	synonymous_variant	3225				multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54396386A>G		CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.711A>G	12.37:g.54396386A>G						HOXC9_ENST00000508190.1_Silent_p.K237K|HOXC9_ENST00000504557.1_3'UTR	p.K237K	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN			2	781	+			237					B2RCN7|Q9H1I0	Silent	SNP	ENST00000303450.4	37	c.711A>G	CCDS8869.1																																																																																				0.488	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358958.1			28	84	0	0	0	1	0	28	84				
MUC16	94025	broad.mit.edu	37	19	9060598	9060598	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:9060598G>T	ENST00000397910.4	-	3	27051	c.26848C>A	c.(26848-26850)Caa>Aaa	p.Q8950K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8952	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGAATTCTTGTCTAGCGCTG	0.473																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26848-26850)Caa>Aaa		mucin 16, cell surface associated							181.0	171.0	174.0					19																	9060598		2013	4185	6198	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060598G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26848C>A	19.37:g.9060598G>T	ENSP00000381008:p.Gln8950Lys						p.Q8950K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	27051	-			8952			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26848C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.678	0.126086	0.08931	.	.	ENSG00000181143	ENST00000397910	T	0.19938	2.11	2.14	1.0	0.19881	.	.	.	.	.	T	0.13756	0.0333	N	0.19112	0.55	.	.	.	P	0.39424	0.673	B	0.41236	0.351	T	0.18023	-1.0350	8	0.87932	D	0	.	5.4817	0.16727	0.0:0.0:0.6489:0.3511	.	8950	B5ME49	.	K	8950	ENSP00000381008:Q8950K	ENSP00000381008:Q8950K	Q	-	1	0	MUC16	8921598	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.222000	0.09190	0.399000	0.25367	0.306000	0.20318	CAA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		84	190	1	0	2.13431e-38	1	2.66026e-38	84	190				
SHANK2	22941	broad.mit.edu	37	11	70331795	70331795	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:70331795C>G	ENST00000423696.2	-	15	3502	c.3466G>C	c.(3466-3468)Gat>Cat	p.D1156H	SHANK2_ENST00000338508.4_Missense_Mutation_p.D1536H|SHANK2_ENST00000449833.2_Missense_Mutation_p.D940H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D939H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1156					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)	p.D940Y(1)		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)			GCTTGCCCATCTGCATAGACT	0.507																																						ENST00000338508.4																			1	Substitution - Missense(1)	p.D940Y(1)	ovary(1)	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						c.(4606-4608)Gat>Cat		SH3 and multiple ankyrin repeat domains 2							139.0	122.0	128.0					11																	70331795		2200	4294	6494	SO:0001583	missense	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70331795C>G	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.3466G>C	11.37:g.70331795C>G	ENSP00000394536:p.Asp1156His					SHANK2_ENST00000449833.2_Missense_Mutation_p.D940H|SHANK2_ENST00000409161.1_Missense_Mutation_p.D939H|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1156H	p.D1536H			Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		32	4605	-			1156					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	ENST00000423696.2	37	c.4606G>C		.	.	.	.	.	.	.	.	.	.	C	19.55	3.849543	0.71603	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.42	5.42	0.78866	.	0.136685	0.64402	D	0.000004	T	0.52901	0.1763	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.58640	-0.7601	10	0.87932	D	0	.	19.2305	0.93836	0.0:1.0:0.0:0.0	.	1156;1535;940	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	940;939;814;1536;1156;1174;1159	ENSP00000399423:D940H;ENSP00000386491:D939H;ENSP00000402944:D814H;ENSP00000345193:D1536H;ENSP00000394536:D1156H;ENSP00000294018:D1159H	ENSP00000294018:D1159H	D	-	1	0	SHANK2	70009443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.254000	0.78329	2.549000	0.85964	0.655000	0.94253	GAT		0.507	SHANK2-203	KNOWN	basic	protein_coding	protein_coding		NM_012309		10	165	0	0	0	1	0	10	165				
LOC81691	81691	broad.mit.edu	37	16	20844357	20844357	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:20844357A>T	ENST00000261377.6	+	13	1504	c.1295A>T	c.(1294-1296)aAg>aTg	p.K432M	AC004381.6_ENST00000564274.1_Missense_Mutation_p.K432M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Missense_Mutation_p.K432M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GTGGGTCAGAAGCTTCTTTTT	0.383																																						ENST00000261377.6																			0											c.(1294-1296)aAg>aTg									106.0	113.0	110.0					16																	20844357		2201	4300	6501	SO:0001583	missense	81691							g.chr16:20844357A>T																												ENST00000261377.6:c.1295A>T	16.37:g.20844357A>T	ENSP00000261377:p.Lys432Met					AC004381.6_ENST00000348433.6_Missense_Mutation_p.K432M|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.K432M	p.K432M	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2					13	1504	+									Missense_Mutation	SNP	ENST00000261377.6	37	c.1295A>T	CCDS10591.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980470	0.74474	.	.	ENSG00000005189	ENST00000348433;ENST00000261377	T;T	0.38887	1.11;1.47	5.04	5.04	0.67666	.	0.161216	0.42294	D	0.000740	T	0.63236	0.2494	M	0.74258	2.255	0.39636	D	0.970251	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.964	T	0.69109	-0.5232	10	0.72032	D	0.01	-18.846	12.293	0.54829	1.0:0.0:0.0:0.0	.	432;432	Q96IC2-2;Q96IC2	.;REXON_HUMAN	M	432	ENSP00000261378:K432M;ENSP00000261377:K432M	ENSP00000261377:K432M	K	+	2	0	AC004381.6	20751858	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	4.864000	0.62990	1.902000	0.55061	0.402000	0.26972	AAG		0.383	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2			42	106	0	0	0	1	0	42	106				
LOC645166	645166	broad.mit.edu	37	1	148932870	148932870	+	lincRNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:148932870G>T	ENST00000539543.1	+	0	126					NR_027355.2																						GAGTTGGTGGGAGACGGGTGA	0.632																																						ENST00000539543.1																			0																																																			645166							g.chr1:148932870G>T																													1.37:g.148932870G>T								NR_027355.1						0	126	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.632	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				10	192	1	0	9.70103e-10	1	1.07824e-09	10	192				
PTBP1	5725	broad.mit.edu	37	19	810548	810548	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:810548C>G	ENST00000349038.4	+	13	1464	c.1391C>G	c.(1390-1392)tCa>tGa	p.S464*	PTBP1_ENST00000356948.6_Nonsense_Mutation_p.S490*|PTBP1_ENST00000350092.4_Nonsense_Mutation_p.S130*|PTBP1_ENST00000394601.4_Nonsense_Mutation_p.S483*	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	464	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGGCCCTCAGTCTCCGAG	0.612																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(1468-1470)tCa>tGa		polypyrimidine tract binding protein 1							49.0	50.0	49.0					19																	810548		2203	4300	6503	SO:0001587	stop_gained	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:810548C>G	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1391C>G	19.37:g.810548C>G	ENSP00000014112:p.Ser464*					PTBP1_ENST00000349038.4_Nonsense_Mutation_p.S464*|PTBP1_ENST00000394601.4_Nonsense_Mutation_p.S483*|PTBP1_ENST00000350092.4_Nonsense_Mutation_p.S130*	p.S490*	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1892	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	464			RRM 4.		Q9BUQ0	Nonsense_Mutation	SNP	ENST00000349038.4	37	c.1469C>G	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726859	0.89390	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	.	.	.	4.82	4.82	0.62117	.	0.137530	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.3356	16.8783	0.86058	0.0:1.0:0.0:0.0	.	.	.	.	X	490;483;464;130	.	ENSP00000014112:S464X	S	+	2	0	PTBP1	761548	1.000000	0.71417	0.482000	0.27366	0.004000	0.04260	5.381000	0.66208	2.213000	0.71641	0.655000	0.94253	TCA		0.612	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			25	55	0	0	0	1	0	25	55				
POM121L9P	29774	broad.mit.edu	37	22	24659578	24659578	+	RNA	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:24659578A>G	ENST00000414583.2	+	0	3103					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCGCAGGCCAACACTCACTG	0.617																																						ENST00000414583.2																			0																																																			29774							g.chr22:24659578A>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659578A>G								NR_003714.1						0	3103	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.617	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		6	46	0	0	0	1	0	6	46				
OR5R1	219479	broad.mit.edu	37	11	56185158	56185158	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56185158A>T	ENST00000312253.1	-	1	550	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	184			F -> L (in dbSNP:rs7930678).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CAGAGCTAAGAAGGGGAGGTC	0.453																																						ENST00000312253.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(550-552)tTc>tAc		olfactory receptor, family 5, subfamily R, member 1							97.0	88.0	91.0					11																	56185158		2201	4295	6496	SO:0001583	missense	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185158A>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.551T>A	11.37:g.56185158A>T	ENSP00000308595:p.Phe184Tyr						p.F184Y	NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN			1	550	-	Esophageal squamous(21;0.00448)		184		F -> L (in dbSNP:rs7930678).				Missense_Mutation	SNP	ENST00000312253.1	37	c.551T>A	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	16.40	3.113688	0.56398	.	.	ENSG00000174942	ENST00000312253	T	0.00099	8.73	5.72	5.72	0.89469	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00210	0.0006	N	0.25890	0.77	0.09310	N	1	B	0.33318	0.408	B	0.43701	0.428	T	0.61387	-0.7073	9	0.87932	D	0	-5.8891	15.6448	0.77039	1.0:0.0:0.0:0.0	.	184	Q8NH85	OR5R1_HUMAN	Y	184	ENSP00000308595:F184Y	ENSP00000308595:F184Y	F	-	2	0	OR5R1	55941734	0.967000	0.33354	0.061000	0.19648	0.758000	0.43043	9.064000	0.93933	2.182000	0.69389	0.472000	0.43445	TTC		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	NM_001004744		6	64	0	0	0	1	0	6	64				
IDE	3416	broad.mit.edu	37	10	94294363	94294363	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:94294363G>C	ENST00000265986.6	-	3	519	c.463C>G	c.(463-465)Cat>Gat	p.H155D		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	155					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	AGGTGTTCATGAGAAACATCA	0.353																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(463-465)Cat>Gat		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						156.0	144.0	148.0					10																	94294363		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94294363G>C	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.463C>G	10.37:g.94294363G>C	ENSP00000265986:p.His155Asp						p.H155D	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			3	519	-			155					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.463C>G	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439653	0.83885	.	.	ENSG00000119912	ENST00000265986;ENST00000436178	T;T	0.27890	1.64;1.64	5.83	5.83	0.93111	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.04132	-0.27	0.80722	D	1	B	0.29115	0.233	B	0.39465	0.3	T	0.26087	-1.0113	10	0.48119	T	0.1	-16.1	20.1208	0.97960	0.0:0.0:1.0:0.0	.	155	P14735	IDE_HUMAN	D	155;141	ENSP00000265986:H155D;ENSP00000408850:H141D	ENSP00000265986:H155D	H	-	1	0	IDE	94284343	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.837000	0.99465	2.758000	0.94735	0.655000	0.94253	CAT		0.353	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		17	107	0	0	0	1	0	17	107				
MPP2	4355	broad.mit.edu	37	17	41958680	41958680	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:41958680G>A	ENST00000461854.1	-	9	1008	c.923C>T	c.(922-924)cCc>cTc	p.P308L	MPP2_ENST00000377184.3_Missense_Mutation_p.P301L|MPP2_ENST00000473246.1_5'Flank|MPP2_ENST00000523501.1_Missense_Mutation_p.P273L|MPP2_ENST00000536246.1_Missense_Mutation_p.P273L|MPP2_ENST00000518766.1_Missense_Mutation_p.P329L|MPP2_ENST00000520305.1_Missense_Mutation_p.P145L|MPP2_ENST00000269095.4_Missense_Mutation_p.P284L			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	308	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCTGGCTGGGAATGAGCCC	0.592											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269095.4																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29						c.(850-852)cCc>cTc		membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)							89.0	91.0	90.0					17																	41958680		2203	4300	6503	SO:0001583	missense	4355				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity	g.chr17:41958680G>A		CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.923C>T	17.37:g.41958680G>A	ENSP00000428286:p.Pro308Leu		OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	905	MPP2_ENST00000518766.1_Missense_Mutation_p.P329L|MPP2_ENST00000523501.1_Missense_Mutation_p.P273L|MPP2_ENST00000377184.3_Missense_Mutation_p.P301L|MPP2_ENST00000520305.1_Missense_Mutation_p.P145L|MPP2_ENST00000461854.1_Missense_Mutation_p.P308L|MPP2_ENST00000536246.1_Missense_Mutation_p.P273L	p.P284L	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.12)	8	1155	-		Breast(137;0.00314)	308			SH3.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000461854.1	37	c.851C>T		.	.	.	.	.	.	.	.	.	.	g	31	5.094541	0.94149	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	D;D;D;D;D;D;D	0.97089	-4.24;-4.24;-4.24;-4.24;-4.24;-4.24;-4.24	5.1	5.1	0.69264	.	.	.	.	.	D	0.99266	0.9744	H	0.99659	4.685	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98329	1.0532	9	0.87932	D	0	.	16.1263	0.81397	0.0:0.0:1.0:0.0	.	329;301	E7EV80;Q14168-3	.;.	L	301;284;308;145;273;273;329	ENSP00000366389:P301L;ENSP00000269095:P284L;ENSP00000428286:P308L;ENSP00000428136:P145L;ENSP00000430540:P273L;ENSP00000438012:P273L;ENSP00000428182:P329L	ENSP00000269095:P284L	P	-	2	0	MPP2	39314206	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.559000	0.98135	2.662000	0.90505	0.555000	0.69702	CCC		0.592	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	protein_coding	OTTHUMT00000258388.2	NM_005374		24	77	0	0	0	1	0	24	77				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	284802							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	150	0	0	0	1	0	5	150				
CNTNAP5	129684	broad.mit.edu	37	2	125204342	125204342	+	Missense_Mutation	SNP	C	C	T	rs377323989		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:125204342C>T	ENST00000431078.1	+	6	1110	c.746C>T	c.(745-747)gCg>gTg	p.A249V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	249	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GACAGCAAAGCGCGGCTCAGC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		18868	0.0		0.001	False		,,,				2504	0.0					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(745-747)gCg>gTg		contactin associated protein-like 5		C	VAL/ALA	0,4264		0,0,2132	45.0	49.0	48.0		746	1.5	0.1	2		48	1,8521		0,1,4260	no	missense	CNTNAP5	NM_130773.2	64	0,1,6392	TT,TC,CC		0.0117,0.0,0.0078	benign	249/1307	125204342	1,12785	2132	4261	6393	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125204342C>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.746C>T	2.37:g.125204342C>T	ENSP00000399013:p.Ala249Val						p.A249V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	6	1110	+			249			Laminin G-like 1.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.746C>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	2.996	-0.207128	0.06180	0.0	1.17E-4	ENSG00000155052	ENST00000431078	T	0.78707	-1.2	5.74	1.46	0.22682	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.840203	0.10135	N	0.711639	T	0.56659	0.2000	N	0.10685	0.025	0.19945	N	0.999942	B	0.23128	0.08	B	0.24541	0.054	T	0.46652	-0.9176	10	0.36615	T	0.2	.	6.5185	0.22262	0.0:0.4489:0.0:0.5511	.	249	Q8WYK1	CNTP5_HUMAN	V	249	ENSP00000399013:A249V	ENSP00000399013:A249V	A	+	2	0	CNTNAP5	124920812	0.304000	0.24472	0.070000	0.20053	0.012000	0.07955	1.622000	0.36997	0.471000	0.27319	-0.251000	0.11542	GCG		0.582	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			8	39	0	0	0	1	0	8	39				
TTN	7273	broad.mit.edu	37	2	179546430	179546430	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:179546430C>T	ENST00000591111.1	-	134	32403	c.32179G>A	c.(32179-32181)Gaa>Aaa	p.E10727K	TTN_ENST00000342992.6_Missense_Mutation_p.E9800K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E11044K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11688	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCTTCTGGGACAGGC	0.378																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(33130-33132)Gaa>Aaa		titin							145.0	137.0	140.0					2																	179546430		1809	4079	5888	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179546430C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32179G>A	2.37:g.179546430C>T	ENSP00000465570:p.Glu10727Lys					TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E10727K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9800K|TTN_ENST00000342175.6_Intron	p.E11044K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		136	33354	-			10727			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.33130G>A		.	.	.	.	.	.	.	.	.	.	C	9.676	1.147926	0.21288	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.66280	-0.2;-0.09	5.37	4.47	0.54385	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.48572	0.1507	N	0.19112	0.55	0.80722	D	1	B;B	0.24043	0.001;0.096	B;B	0.25614	0.003;0.062	T	0.51834	-0.8655	9	0.87932	D	0	.	13.2802	0.60210	0.0:0.9225:0.0:0.0775	.	10727;10463	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	K	9800;658	ENSP00000343764:E9800K;ENSP00000401501:E658K	ENSP00000343764:E9800K	E	-	1	0	TTN	179254675	0.909000	0.30893	1.000000	0.80357	0.845000	0.48019	0.961000	0.29267	2.690000	0.91761	0.460000	0.39030	GAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		22	75	0	0	0	1	0	22	75				
BDKRB2	624	broad.mit.edu	37	14	96707634	96707634	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:96707634C>A	ENST00000306005.3	+	3	1165	c.969C>A	c.(967-969)agC>agA	p.S323R	BDKRB2_ENST00000539359.1_Missense_Mutation_p.S296R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S323R|BDKRB2_ENST00000542454.2_Missense_Mutation_p.S296R	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	323					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TGGCCTACAGCAACAGCTGCC	0.582																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(886-888)agC>agA		bradykinin receptor B2							81.0	70.0	74.0					14																	96707634		2203	4300	6503	SO:0001583	missense	624				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707634C>A	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.969C>A	14.37:g.96707634C>A	ENSP00000307713:p.Ser323Arg					BDKRB2_ENST00000539359.1_Missense_Mutation_p.S296R|BDKRB2_ENST00000554311.1_Missense_Mutation_p.S323R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Missense_Mutation_p.S323R	p.S296R			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3976	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	323						Missense_Mutation	SNP	ENST00000306005.3	37	c.888C>A	CCDS9942.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108288	0.56291	.	.	ENSG00000168398	ENST00000542454;ENST00000554311;ENST00000306005;ENST00000539359	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	4.62	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.201793	0.49305	D	0.000151	T	0.51398	0.1672	M	0.91038	3.17	0.46849	D	0.999222	D	0.58970	0.984	D	0.65323	0.934	T	0.62459	-0.6850	10	0.87932	D	0	-9.6476	12.9111	0.58181	0.0:0.9191:0.0:0.0809	.	323	P30411	BKRB2_HUMAN	R	296;323;323;296	ENSP00000439459:S296R;ENSP00000450482:S323R;ENSP00000307713:S323R;ENSP00000438376:S296R	ENSP00000307713:S323R	S	+	3	2	BDKRB2	95777387	1.000000	0.71417	0.998000	0.56505	0.708000	0.40852	2.078000	0.41567	0.908000	0.36671	0.561000	0.74099	AGC		0.582	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			11	30	1	0	6.40141e-05	1	6.72919e-05	11	30				
GAMT	2593	broad.mit.edu	37	19	1397496	1397496	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:1397496C>G	ENST00000252288.2	-	6	639	c.573G>C	c.(571-573)gaG>gaC	p.E191D	AC005329.7_ENST00000501448.1_RNA|AC005329.7_ENST00000585596.1_RNA|AC005329.7_ENST00000589734.1_RNA	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	191	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	GCACCTGCGTCTCCTGGTCGG	0.667																																					Colon(167;1531 1939 13427 28842 31956)	ENST00000252288.2																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6						c.(571-573)gaG>gaC		guanidinoacetate N-methyltransferase	Creatine(DB00148)						49.0	49.0	49.0					19																	1397496		2203	4298	6501	SO:0001583	missense	2593				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity	g.chr19:1397496C>G	Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.573G>C	19.37:g.1397496C>G	ENSP00000252288:p.Glu191Asp						p.E191D	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	639	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)	191					A8K0A0|Q53Y34|Q8WVJ1	Missense_Mutation	SNP	ENST00000252288.2	37	c.573G>C	CCDS12064.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628574	0.46944	.	.	ENSG00000130005	ENST00000252288	D	0.88818	-2.43	5.08	2.76	0.32466	.	0.103104	0.64402	D	0.000004	D	0.87884	0.6290	L	0.51853	1.615	0.80722	D	1	P	0.48764	0.915	P	0.50352	0.638	D	0.87168	0.2219	10	0.66056	D	0.02	.	9.2993	0.37835	0.1632:0.6787:0.1581:0.0	.	191	Q14353	GAMT_HUMAN	D	191	ENSP00000252288:E191D	ENSP00000252288:E191D	E	-	3	2	GAMT	1348496	1.000000	0.71417	0.998000	0.56505	0.139000	0.21198	1.464000	0.35288	1.112000	0.41740	0.561000	0.74099	GAG		0.667	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449739.1	NM_138924		19	60	0	0	0	1	0	19	60				
BCLAF1	9774	broad.mit.edu	37	6	136599312	136599312	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:136599312G>A	ENST00000531224.1	-	4	959	c.707C>T	c.(706-708)cCt>cTt	p.P236L	BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	236					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACTCTGACTAGGTGGTGTAGC	0.443																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(706-708)cCt>cTt		BCL2-associated transcription factor 1							196.0	185.0	188.0					6																	136599312		2203	4300	6503	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599312G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.707C>T	6.37:g.136599312G>A	ENSP00000435210:p.Pro236Leu					BCLAF1_ENST00000392348.2_Missense_Mutation_p.P234L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.P234L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.P236L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.P234L	p.P236L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	959	-	Colorectal(23;0.24)		236					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.707C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845207	0.71603	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.82	5.82	0.92795	.	0.088153	0.49916	D	0.000125	T	0.12944	0.0314	L	0.27053	0.805	0.80722	D	1	P;P;P;P	0.46784	0.728;0.884;0.728;0.884	B;B;B;P	0.47206	0.402;0.402;0.402;0.541	T	0.01621	-1.1310	10	0.49607	T	0.09	-12.5497	20.1012	0.97876	0.0:0.0:1.0:0.0	.	234;234;236;236	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	L	236;234;236;236;234;234;236	ENSP00000435210:P236L;ENSP00000229446:P234L;ENSP00000435441:P236L;ENSP00000436501:P236L;ENSP00000434826:P234L;ENSP00000376159:P234L;ENSP00000431734:P236L	ENSP00000229446:P234L	P	-	2	0	BCLAF1	136641005	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.074000	0.76791	2.754000	0.94517	0.650000	0.86243	CCT		0.443	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		26	158	0	0	0	1	0	26	158				
LILRB5	10990	broad.mit.edu	37	19	54760128	54760128	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54760128C>G	ENST00000316219.5	-	4	540	c.433G>C	c.(433-435)Gat>Cat	p.D145H	LILRB5_ENST00000450632.1_Missense_Mutation_p.D136H|LILRB5_ENST00000449561.2_Missense_Mutation_p.D145H|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	145	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCAGTGTATCACACTGGAGG	0.547																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(406-408)Gat>Cat		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							77.0	84.0	81.0					19																	54760128		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760128C>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.433G>C	19.37:g.54760128C>G	ENSP00000320390:p.Asp145His					LILRB5_ENST00000316219.5_Missense_Mutation_p.D145H|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Missense_Mutation_p.D145H	p.D136H			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	483	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		145			Ig-like C2-type 2.		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.406G>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.108986	0.20714	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561	T;T;T	0.12147	2.71;2.71;2.71	3.42	-3.77	0.04346	Immunoglobulin-like fold (1);	1.775090	0.02741	N	0.116328	T	0.11750	0.0286	N	0.03115	-0.41	0.09310	N	1	D;P;B	0.64830	0.994;0.574;0.123	D;B;B	0.63113	0.911;0.211;0.102	T	0.12400	-1.0549	10	0.36615	T	0.2	.	3.9947	0.09553	0.0:0.2974:0.3504:0.3522	.	136;145;145	C9JMK7;O75023-3;O75023	.;.;LIRB5_HUMAN	H	145;136;145	ENSP00000320390:D145H;ENSP00000414225:D136H;ENSP00000406478:D145H	ENSP00000320390:D145H	D	-	1	0	LILRB5	59451940	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-1.326000	0.02685	-0.325000	0.08577	-0.242000	0.12053	GAT		0.547	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			26	74	0	0	0	1	0	26	74				
POM121L12	285877	broad.mit.edu	37	7	53103832	53103832	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:53103832G>A	ENST00000408890.4	+	1	484	c.468G>A	c.(466-468)caG>caA	p.Q156Q		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	156										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCCTGGACAGAGAgcccgcc	0.731																																						ENST00000408890.4																			0				endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						c.(466-468)caG>caA		POM121 transmembrane nucleoporin-like 12							14.0	18.0	16.0					7																	53103832		1876	4072	5948	SO:0001819	synonymous_variant	285877							g.chr7:53103832G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.468G>A	7.37:g.53103832G>A							p.Q156Q	NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN			1	484	+			156					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.468G>A	CCDS43584.1																																																																																				0.731	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		8	41	0	0	0	1	0	8	41				
TLE3	7090	broad.mit.edu	37	15	70350626	70350626	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:70350626T>C	ENST00000558939.1	-	12	2300	c.923A>G	c.(922-924)gAc>gGc	p.D308G	TLE3_ENST00000558201.1_Missense_Mutation_p.D314G|TLE3_ENST00000558379.1_Missense_Mutation_p.D308G|TLE3_ENST00000559048.1_Missense_Mutation_p.D313G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000440567.3_Missense_Mutation_p.D301G|TLE3_ENST00000539550.1_Missense_Mutation_p.D252G|TLE3_ENST00000557907.1_Missense_Mutation_p.D308G|TLE3_ENST00000317509.8_Missense_Mutation_p.D308G|TLE3_ENST00000560939.1_Missense_Mutation_p.D313G|TLE3_ENST00000442299.2_Missense_Mutation_p.D308G|TLE3_ENST00000451782.2_Missense_Mutation_p.D308G|TLE3_ENST00000557997.1_Missense_Mutation_p.D308G|TLE3_ENST00000560589.1_Missense_Mutation_p.D252G|TLE3_ENST00000559929.1_Missense_Mutation_p.D318G	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3	308	Pro/Ser-rich.				Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAGGATTTGTCGTTCTGAAG	0.617																																						ENST00000558939.1																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(922-924)gAc>gGc		transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)							164.0	170.0	168.0					15																	70350626		2000	4157	6157	SO:0001583	missense	7090				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	g.chr15:70350626T>C	M99438	CCDS45293.1, CCDS45294.1, CCDS58375.1, CCDS61689.1, CCDS61691.1, CCDS61692.1, CCDS73747.1	15q22	2014-03-07	2014-03-07			ENSG00000140332		"""WD repeat domain containing"""	11839	protein-coding gene	gene with protein product		600190	"""transducin-like enhancer of split 3, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005254623		Approved	ESG, ESG3, KIAA1547, HsT18976, GRG3	uc002asm.2	Q04726		ENST00000558939.1:c.923A>G	15.37:g.70350626T>C	ENSP00000452871:p.Asp308Gly					TLE3_ENST00000557907.1_Missense_Mutation_p.D308G|TLE3_ENST00000317509.8_Missense_Mutation_p.D308G|TLE3_ENST00000559048.1_Missense_Mutation_p.D313G|TLE3_ENST00000440567.3_Missense_Mutation_p.D301G|TLE3_ENST00000560939.1_Missense_Mutation_p.D313G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Missense_Mutation_p.D318G|TLE3_ENST00000539550.1_Missense_Mutation_p.D252G|TLE3_ENST00000558201.1_Missense_Mutation_p.D314G|TLE3_ENST00000557997.1_Missense_Mutation_p.D308G|TLE3_ENST00000560589.1_Missense_Mutation_p.D252G|TLE3_ENST00000558379.1_Missense_Mutation_p.D308G|TLE3_ENST00000442299.2_Missense_Mutation_p.D308G|TLE3_ENST00000451782.2_Missense_Mutation_p.D308G	p.D308G			Q04726	TLE3_HUMAN			12	2300	-			308			Pro/Ser-rich.		B4DPT0|E9PD64|F8W964|Q6PI57|Q8IVV6|Q8WVR2|Q9HCM5	Missense_Mutation	SNP	ENST00000558939.1	37	c.923A>G	CCDS45293.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.853376	0.51270	.	.	ENSG00000140332	ENST00000442299;ENST00000451782;ENST00000317509;ENST00000440567;ENST00000539550	T;T;T;T;T	0.54071	0.82;0.87;0.89;0.86;0.59	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.61515	0.2353	M	0.64997	1.995	0.80722	D	1	B;P;P;B;P;B;P;B	0.45283	0.427;0.654;0.765;0.006;0.855;0.027;0.57;0.045	B;P;P;B;P;B;B;B	0.49799	0.438;0.501;0.543;0.013;0.622;0.016;0.438;0.025	T	0.65717	-0.6100	10	0.72032	D	0.01	-8.8313	15.3268	0.74172	0.0:0.0:0.0:1.0	.	301;308;308;308;308;308;313;252	F8W964;E9PD64;Q04726-3;Q6PI57;Q04726-2;Q04726;Q04726-4;F5H7D6	.;.;.;.;.;TLE3_HUMAN;.;.	G	308;308;308;301;252	ENSP00000390007:D308G;ENSP00000394717:D308G;ENSP00000319233:D308G;ENSP00000415057:D301G;ENSP00000442594:D252G	ENSP00000319233:D308G	D	-	2	0	TLE3	68137680	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.774000	0.85478	2.288000	0.76882	0.533000	0.62120	GAC		0.617	TLE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416913.1	NM_005078		39	117	0	0	0	1	0	39	117				
SERPINA5	5104	broad.mit.edu	37	14	95056438	95056438	+	Missense_Mutation	SNP	C	C	T	rs61740460	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:95056438C>T	ENST00000554866.1	+	3	794	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SERPINA5_ENST00000554276.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000329597.7_Missense_Mutation_p.S227L|RP11-986E7.7_ENST00000553947.1_5'Flank			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	227					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TACGTGACCTCGGAGACTGTG	0.512																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(679-681)tCg>tTg		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	72.0	67.0	69.0		680	0.9	0.0	14	dbSNP_129	69	0,8600		0,0,4300	no	missense	SERPINA5	NM_000624.4	145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	227/407	95056438	2,13004	2203	4300	6503	SO:0001583	missense	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95056438C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.680C>T	14.37:g.95056438C>T	ENSP00000451126:p.Ser227Leu					SERPINA5_ENST00000554866.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000553780.1_Missense_Mutation_p.S227L|SERPINA5_ENST00000554276.1_Missense_Mutation_p.S227L	p.S227L	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	4	890	+			227					Q07616|Q9UG30	Missense_Mutation	SNP	ENST00000554866.1	37	c.680C>T	CCDS9928.1	.	.	.	.	.	.	.	.	.	.	C	4.241	0.043654	0.08196	4.54E-4	0.0	ENSG00000188488	ENST00000553780;ENST00000554760;ENST00000554866;ENST00000329597;ENST00000556775;ENST00000537685;ENST00000438291;ENST00000554276	D;D;D;D;T;D	0.88354	-1.7;-2.37;-1.7;-1.7;-0.91;-1.7	4.11	0.89	0.19218	Serpin domain (3);	2.330970	0.02114	N	0.055057	D	0.87051	0.6081	L	0.55017	1.72	0.09310	N	1	B;B	0.27823	0.19;0.034	B;B	0.28232	0.043;0.087	T	0.72157	-0.4375	10	0.52906	T	0.07	.	8.1041	0.30874	0.2607:0.4692:0.2701:0.0	rs61740460	227;227	G3V5Q9;P05154	.;IPSP_HUMAN	L	227;227;227;227;227;79;151;227	ENSP00000450837:S227L;ENSP00000452469:S227L;ENSP00000451126:S227L;ENSP00000333203:S227L;ENSP00000450745:S227L;ENSP00000451610:S227L	ENSP00000333203:S227L	S	+	2	0	SERPINA5	94126191	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.048000	0.14078	0.460000	0.27045	-0.314000	0.08810	TCG		0.512	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		14	30	0	0	0	1	0	14	30				
SHROOM4	57477	broad.mit.edu	37	X	50378316	50378316	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:50378316G>C	ENST00000289292.7	-	4	1040	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.Q253E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q137E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	253					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GATGACATCTGAGAGCTGGGG	0.657																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(757-759)Cag>Gag		shroom family member 4							15.0	13.0	14.0					X																	50378316		2201	4291	6492	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50378316G>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.757C>G	X.37:g.50378316G>C	ENSP00000289292:p.Gln253Glu					SHROOM4_ENST00000289292.7_Missense_Mutation_p.Q253E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.Q137E	p.Q253E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	782	-	Ovarian(276;0.236)		253					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.757C>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	6.908	0.537086	0.13188	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.14022	3.01;3.01;2.54	5.62	5.62	0.85841	.	1.965940	0.02138	N	0.056924	T	0.12050	0.0293	L	0.29908	0.895	0.26499	N	0.974795	B	0.34015	0.435	B	0.24974	0.057	T	0.44757	-0.9307	10	0.02654	T	1	.	15.6996	0.77533	0.0:0.0:1.0:0.0	.	253	Q9ULL8	SHRM4_HUMAN	E	253;253;137	ENSP00000289292:Q253E;ENSP00000365188:Q253E;ENSP00000421450:Q137E	ENSP00000289292:Q253E	Q	-	1	0	SHROOM4	50395056	1.000000	0.71417	0.802000	0.32245	0.835000	0.47333	3.160000	0.50739	2.506000	0.84524	0.600000	0.82982	CAG		0.657	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		5	5	0	0	0	1	0	5	5				
PGK1	5230	broad.mit.edu	37	X	77365394	77365394	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:77365394C>G	ENST00000373316.4	+	2	263	c.96C>G	c.(94-96)aaC>aaG	p.N32K	PGK1_ENST00000442431.1_Missense_Mutation_p.N32K|PGK1_ENST00000537456.1_Missense_Mutation_p.N4K	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	32					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TGAAGAACAACCAGATAACAA	0.378																																						ENST00000373316.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(94-96)aaC>aaG		phosphoglycerate kinase 1							189.0	151.0	164.0					X																	77365394		2203	4296	6499	SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77365394C>G	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.96C>G	X.37:g.77365394C>G	ENSP00000362413:p.Asn32Lys					PGK1_ENST00000442431.1_Missense_Mutation_p.N32K|PGK1_ENST00000537456.1_Missense_Mutation_p.N4K	p.N32K	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN			2	263	+			32					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	ENST00000373316.4	37	c.96C>G	CCDS14438.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694822	0.30052	.	.	ENSG00000102144	ENST00000373316;ENST00000442431;ENST00000537456	D;D;D	0.91843	-2.92;-2.86;-2.92	5.88	1.75	0.24633	Phosphoglycerate kinase, N-terminal (1);	0.133787	0.64402	D	0.000003	T	0.79482	0.4453	N	0.05230	-0.09	0.27156	N	0.961289	B	0.02656	0.0	B	0.01281	0.0	T	0.67639	-0.5619	10	0.33940	T	0.23	-33.1243	7.6121	0.28137	0.1259:0.6541:0.0:0.22	.	32	P00558	PGK1_HUMAN	K	32;32;4	ENSP00000362413:N32K;ENSP00000405452:N32K;ENSP00000444708:N4K	ENSP00000362413:N32K	N	+	3	2	PGK1	77252050	0.975000	0.34042	1.000000	0.80357	0.998000	0.95712	0.236000	0.17967	0.259000	0.21709	0.600000	0.82982	AAC		0.378	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			9	112	0	0	0	1	0	9	112				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	138	0	0	0	1	0	7	138				
CADPS2	93664	broad.mit.edu	37	7	121960383	121960383	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:121960383T>G	ENST00000449022.2	-	30	3746	c.3727A>C	c.(3727-3729)Agg>Cgg	p.R1243R	CADPS2_ENST00000412584.2_Silent_p.R1202R|CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000334010.7_Silent_p.R1241R	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1243					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CGAAAGTCCCTGTAGGTTTTC	0.393																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(3721-3723)Agg>Cgg		Ca++-dependent secretion activator 2							164.0	155.0	158.0					7																	121960383		1870	4096	5966	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:121960383T>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3727A>C	7.37:g.121960383T>G						CADPS2_ENST00000313070.7_Silent_p.R1202R|CADPS2_ENST00000412584.2_Silent_p.R1202R|CADPS2_ENST00000449022.2_Silent_p.R1243R	p.R1241R	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			28	4142	-			1243					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.3721A>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	T	8.680	0.904931	0.17760	.	.	ENSG00000081803	ENST00000397721	.	.	.	5.63	4.46	0.54185	.	.	.	.	.	T	0.63581	0.2523	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60712	-0.7209	4	.	.	.	-15.0425	12.4669	0.55764	0.0:0.0:0.3303:0.6697	.	.	.	.	P	845	.	.	Q	-	2	0	CADPS2	121747619	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	3.528000	0.53524	0.955000	0.37878	0.528000	0.53228	CAG		0.393	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		57	170	0	0	0	1	0	57	170				
SCRIB	23513	broad.mit.edu	37	8	144886317	144886317	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144886317G>C	ENST00000320476.3	-	22	3025	c.3019C>G	c.(3019-3021)Ctg>Gtg	p.L1007V	SCRIB_ENST00000377533.3_Missense_Mutation_p.L926V|SCRIB_ENST00000356994.2_Missense_Mutation_p.L1007V	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	1007	Interaction with ARHGEF7.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTCTTGGCAGACGGATCTCC	0.627																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(3019-3021)Ctg>Gtg		scribbled planar cell polarity protein							27.0	27.0	27.0					8																	144886317		2198	4300	6498	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144886317G>C	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.3019C>G	8.37:g.144886317G>C	ENSP00000322938:p.Leu1007Val					SCRIB_ENST00000377533.3_Missense_Mutation_p.L926V|SCRIB_ENST00000320476.3_Missense_Mutation_p.L1007V	p.L1007V	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		22	3025	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1007			Interaction with ARHGEF7.|PDZ 3.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.3019C>G	CCDS6411.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.57|13.57	2.275691|2.275691	0.40294|0.40294	.|.	.|.	ENSG00000180900|ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539|ENST00000526832	T;T;T|.	0.58797|.	0.31;0.31;0.31|.	4.49|4.49	2.63|2.63	0.31362|0.31362	PDZ/DHR/GLGF (3);|.	.|.	.|.	.|.	.|.	T|T	0.53965|0.53965	0.1829|0.1829	L|L	0.46741|0.46741	1.465|1.465	0.38979|0.38979	D|D	0.958916|0.958916	P;P|.	0.48162|.	0.906;0.885|.	P;P|.	0.49561|.	0.615;0.481|.	T|T	0.48163|0.48163	-0.9059|-0.9059	9|5	0.52906|.	T|.	0.07|.	.|.	7.5075|7.5075	0.27553|0.27553	0.0915:0.1666:0.7419:0.0|0.0915:0.1666:0.7419:0.0	.|.	1007;1007|.	Q14160;Q14160-3|.	SCRIB_HUMAN;.|.	V|C	1007;1007;926;376|2	ENSP00000349486:L1007V;ENSP00000322938:L1007V;ENSP00000366756:L926V|.	ENSP00000322938:L1007V|.	L|S	-|-	1|2	2|0	SCRIB|SCRIB	144958305|144958305	1.000000|1.000000	0.71417|0.71417	0.550000|0.550000	0.28217|0.28217	0.521000|0.521000	0.34408|0.34408	3.092000|3.092000	0.50207|0.50207	0.401000|0.401000	0.25424|0.25424	0.462000|0.462000	0.41574|0.41574	CTG|TCT		0.627	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		5	30	0	0	0	1	0	5	30				
FAP	2191	broad.mit.edu	37	2	163070542	163070542	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:163070542C>A	ENST00000188790.4	-	11	1115	c.908G>T	c.(907-909)cGa>cTa	p.R303L	FAP_ENST00000443424.1_Missense_Mutation_p.R278L	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.R303L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAAACATACTCGTTCATCAGT	0.408																																						ENST00000188790.4																			1	Substitution - Missense(1)	p.R303L(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(907-909)cGa>cTa		fibroblast activation protein, alpha							105.0	102.0	103.0					2																	163070542		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163070542C>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.908G>T	2.37:g.163070542C>A	ENSP00000188790:p.Arg303Leu					FAP_ENST00000443424.1_Missense_Mutation_p.R278L	p.R303L	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			11	1115	-			303						Missense_Mutation	SNP	ENST00000188790.4	37	c.908G>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	33	5.262543	0.95399	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	D;T	0.96300	-3.97;1.39	5.53	5.53	0.82687	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.135690	0.49916	D	0.000137	D	0.96216	0.8766	L	0.59912	1.85	0.80722	D	1	P;D;D	0.56287	0.645;0.975;0.975	P;P;P	0.48425	0.495;0.577;0.577	D	0.96073	0.9047	10	0.52906	T	0.07	-19.9316	19.4577	0.94903	0.0:1.0:0.0:0.0	.	278;303;303	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	L	303;278	ENSP00000188790:R303L;ENSP00000411391:R278L	ENSP00000188790:R303L	R	-	2	0	FAP	162778788	1.000000	0.71417	0.840000	0.33206	0.953000	0.61014	7.262000	0.78410	2.607000	0.88179	0.655000	0.94253	CGA		0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2			34	137	1	0	2.08457e-15	1	2.44132e-15	34	137				
SYT1	6857	broad.mit.edu	37	12	79689870	79689870	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:79689870G>C	ENST00000261205.4	+	7	1153	c.496G>C	c.(496-498)Gct>Cct	p.A166P	SYT1_ENST00000393240.3_Missense_Mutation_p.A166P|SYT1_ENST00000552744.1_Missense_Mutation_p.A166P|SYT1_ENST00000457153.2_Missense_Mutation_p.A163P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	166	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GATCATTCAGGCTGCCGAACT	0.428																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(496-498)Gct>Cct		synaptotagmin I							94.0	88.0	90.0					12																	79689870		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79689870G>C		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.496G>C	12.37:g.79689870G>C	ENSP00000261205:p.Ala166Pro					SYT1_ENST00000457153.2_Missense_Mutation_p.A163P|SYT1_ENST00000393240.3_Missense_Mutation_p.A166P|SYT1_ENST00000552744.1_Missense_Mutation_p.A166P	p.A166P	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			7	1153	+			166			C2 1.|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.496G>C	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.258454|5.258454	0.95368|0.95368	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242|ENST00000549559	T;T;T;T;T;T|.	0.20463|.	2.07;2.07;2.07;2.07;2.07;2.07|.	5.52|5.52	5.52|5.52	0.82312|0.82312	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);|.	0.045477|.	0.85682|.	D|.	0.000000|.	D|D	0.90212|0.90212	0.6940|0.6940	H|H	0.97023|0.97023	3.925|3.925	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.92926|0.92926	0.6359|0.6359	10|5	0.87932|.	D|.	0|.	.|.	19.8046|19.8046	0.96525|0.96525	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	166;166|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	P|S	166;166;163;166;163;166|67	ENSP00000376932:A166P;ENSP00000261205:A166P;ENSP00000391056:A163P;ENSP00000447575:A166P;ENSP00000448861:A163P;ENSP00000401559:A166P|.	ENSP00000261205:A166P|.	A|R	+|+	1|3	0|2	SYT1|SYT1	78214001|78214001	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	9.813000|9.813000	0.99286|0.99286	2.754000|2.754000	0.94517|0.94517	0.650000|0.650000	0.86243|0.86243	GCT|AGG		0.428	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		28	89	0	0	0	1	0	28	89				
ZSCAN5B	342933	broad.mit.edu	37	19	56704310	56704310	+	Missense_Mutation	SNP	T	T	A	rs201784103		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704310T>A	ENST00000586855.2	-	2	425	c.112A>T	c.(112-114)Agg>Tgg	p.R38W	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	38					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCAGGGTTCCTGTCGTGATTT	0.562																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(112-114)Agg>Tgg		zinc finger and SCAN domain containing 5B																																				SO:0001583	missense	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704310T>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.112A>T	19.37:g.56704310T>A	ENSP00000466072:p.Arg38Trp					ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R38W	p.R38W			A6NJL1	ZSA5B_HUMAN			2	425	-			38						Missense_Mutation	SNP	ENST00000586855.2	37	c.112A>T	CCDS46203.1	.	.	.	.	.	.	.	.	.	.	T	3.900	-0.022186	0.07634	.	.	ENSG00000197213	ENST00000358992	T	0.05786	3.39	2.48	-4.95	0.03048	Retrovirus capsid, C-terminal (1);	.	.	.	.	T	0.04497	0.0123	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.36792	-0.9733	9	0.38643	T	0.18	.	1.6622	0.02794	0.1805:0.4147:0.1183:0.2866	.	38	A6NJL1	ZSA5B_HUMAN	W	38	ENSP00000351883:R38W	ENSP00000351883:R38W	R	-	1	2	ZSCAN5B	61396122	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.760000	0.00373	-2.491000	0.00516	-0.736000	0.03550	AGG		0.562	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		8	44	0	0	0	1	0	8	44				
SLAIN1	122060	broad.mit.edu	37	13	78335059	78335059	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:78335059C>A	ENST00000466548.1	+	7	1471	c.1445C>A	c.(1444-1446)cCa>cAa	p.P482Q	SLAIN1_ENST00000267219.8_Missense_Mutation_p.P263Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P263Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.P105Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P340Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	482										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TATGTGAGTCCAACCGTTCAA	0.517																																						ENST00000466548.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(1444-1446)cCa>cAa		SLAIN motif family, member 1							134.0	115.0	121.0					13																	78335059		2203	4300	6503	SO:0001583	missense	122060							g.chr13:78335059C>A	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1445C>A	13.37:g.78335059C>A	ENSP00000419730:p.Pro482Gln					SLAIN1_ENST00000314070.5_Missense_Mutation_p.P105Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.P263Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.P219Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.P340Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.P263Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.P219Q	p.P482Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	7	1471	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	482					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Missense_Mutation	SNP	ENST00000466548.1	37	c.1445C>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.719652	0.89205	.	.	ENSG00000139737	ENST00000466548;ENST00000389459;ENST00000418532;ENST00000488699;ENST00000267219;ENST00000351546;ENST00000441784;ENST00000314070;ENST00000358679	.	.	.	6.06	6.06	0.98353	.	0.046228	0.85682	D	0.000000	D	0.83589	0.5287	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	D	0.83551	0.0101	9	0.66056	D	0.02	-16.6924	20.6208	0.99490	0.0:1.0:0.0:0.0	.	218;340;105;482	B7Z326;B7Z209;Q8ND10;Q8ND83	.;.;.;SLAI1_HUMAN	Q	482;482;263;340;263;219;219;105;219	.	ENSP00000267219:P263Q	P	+	2	0	SLAIN1	77233060	1.000000	0.71417	0.983000	0.44433	0.997000	0.91878	6.891000	0.75639	2.882000	0.98803	0.655000	0.94253	CCA		0.517	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		29	68	1	0	7.38237e-10	1	8.25784e-10	29	68				
IPO5	3843	broad.mit.edu	37	13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	rs566255473		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:98658520C>T	ENST00000490680.1	+	14	1699	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	IPO5_ENST00000261574.5_Missense_Mutation_p.A563V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR			O00410	IPO5_HUMAN	importin 5	545					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16537	0.0		0.0	False		,,,				2504	0.0					ENST00000261574.5																			0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1687-1689)gCg>gTg		importin 5							95.0	92.0	93.0					13																	98658520		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658520C>T	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1634C>T	13.37:g.98658520C>T	ENSP00000418393:p.Ala545Val					IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000493492.2_3'UTR	p.A563V	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN			17	1868	+			545					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.1688C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.423620|5.423620	0.96111|0.96111	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76644|0.76644	0.4016|0.4016	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	P;D;D|.	0.69078|.	0.947;0.995;0.997|.	P;P;P|.	0.54664|.	0.59;0.578;0.758|.	T|T	0.76512|0.76512	-0.2932|-0.2932	10|5	0.72032|.	D|.	0.01|.	-10.5253|-10.5253	18.8688|18.8688	0.92305|0.92305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	420;545;563|.	B4E0R6;O00410;O00410-3|.	.;IPO5_HUMAN;.|.	V|W	563;545;545;420|547	ENSP00000261574:A563V;ENSP00000350219:A545V;ENSP00000418393:A545V;ENSP00000445126:A420V|.	ENSP00000261574:A563V|.	A|R	+|+	2|1	0|2	IPO5|IPO5	97456521|97456521	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.928000|5.928000	0.70088|0.70088	2.525000|2.525000	0.85131|0.85131	0.460000|0.460000	0.39030|0.39030	GCG|CGG		0.378	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		4	106	0	0	0	1	0	4	106				
ERICH3	127254	broad.mit.edu	37	1	75038610	75038610	+	Silent	SNP	C	C	A	rs555527402		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:75038610C>A	ENST00000326665.5	-	14	3002	c.2784G>T	c.(2782-2784)tcG>tcT	p.S928S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		928	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCCCTCCTCCGATGTCGCTG	0.552																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2782-2784)tcG>tcT		chromosome 1 open reading frame 173							136.0	139.0	138.0					1																	75038610		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75038610C>A																												ENST00000326665.5:c.2784G>T	1.37:g.75038610C>A						C1orf173_ENST00000433746.2_5'UTR	p.S928S	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			14	3002	-			928			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.2784G>T	CCDS30755.1																																																																																				0.552	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			4	163	1	0	0.00024832	1	0.000259472	4	163				
IDS	3423	broad.mit.edu	37	X	148571967	148571967	+	Missense_Mutation	SNP	T	T	C	rs113993953	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:148571967T>C	ENST00000340855.6	-	7	1093	c.884A>G	c.(883-885)aAa>aGa	p.K295R	IDS_ENST00000541269.1_Missense_Mutation_p.K84R|IDS_ENST00000537071.1_5'Flank|IDS_ENST00000370441.4_Missense_Mutation_p.K295R|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000422081.2_Missense_Mutation_p.K84R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	295					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGGCGGATTTTCCGCTGCAA	0.458																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(883-885)aAa>aGa		iduronate 2-sulfatase		T	ARG/LYS,ARG/LYS,ARG/LYS	11,3824		0,6,5,1626,566	60.0	54.0	56.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	884,614,884	5.0	1.0	X	dbSNP_132	56	0,6728		0,0,0,2428,1872	yes	missense,missense,missense	IDS	NM_000202.5,NM_001166550.1,NM_006123.4	26,26,26	0,6,5,4054,2438	CC,CT,C,TT,T		0.0,0.2868,0.1041	benign,benign,benign	295/551,205/461,295/344	148571967	11,10552	2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148571967T>C	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.884A>G	X.37:g.148571967T>C	ENSP00000339801:p.Lys295Arg					IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000370441.4_Missense_Mutation_p.K295R|IDS_ENST00000541269.1_Missense_Mutation_p.K84R	p.K295R	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			7	1093	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		295					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.884A>G	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657611	0.29425	0.002868	0.0	ENSG00000010404	ENST00000340855;ENST00000541269;ENST00000370441	D;D;D	0.98329	-4.87;-4.87;-4.87	5.03	5.03	0.67393	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.305417	0.35903	N	0.002919	D	0.94689	0.8287	L	0.31420	0.93	0.80722	D	1	B;B;B	0.18013	0.004;0.004;0.025	B;B;B	0.17979	0.008;0.02;0.02	D	0.91482	0.5205	10	0.24483	T	0.36	.	8.8997	0.35487	0.294:0.0:0.0:0.706	.	295;205;295	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	R	295;84;295	ENSP00000339801:K295R;ENSP00000441261:K84R;ENSP00000359470:K295R	ENSP00000339801:K295R	K	-	2	0	IDS	148379872	0.908000	0.30866	1.000000	0.80357	0.973000	0.67179	0.881000	0.28173	1.676000	0.50930	0.417000	0.27973	AAA		0.458	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			37	23	0	0	0	1	0	37	23				
SLC35B1	10237	broad.mit.edu	37	17	47783631	47783631	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:47783631T>C	ENST00000240333.6	-	3	395	c.274A>G	c.(274-276)Atc>Gtc	p.I92V	RP11-613C6.2_ENST00000512720.1_RNA|SLC35B1_ENST00000415270.2_Missense_Mutation_p.I129V			P78383	S35B1_HUMAN	solute carrier family 35, member B1	92					transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGATAGGAGATAGAACAGGCA	0.468																																						ENST00000240333.6																			0				endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						c.(274-276)Atc>Gtc		solute carrier family 35, member B1							61.0	56.0	58.0					17																	47783631		2203	4300	6503	SO:0001583	missense	10237					endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity	g.chr17:47783631T>C	D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.274A>G	17.37:g.47783631T>C	ENSP00000240333:p.Ile92Val					SLC35B1_ENST00000415270.2_Missense_Mutation_p.I129V	p.I92V			P78383	S35B1_HUMAN			3	395	-			92					B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	ENST00000240333.6	37	c.274A>G	CCDS11552.1	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702121	0.30232	.	.	ENSG00000121073	ENST00000240333;ENST00000415270;ENST00000503334;ENST00000508520;ENST00000435059;ENST00000514907;ENST00000515850;ENST00000511763;ENST00000511657	T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.77	-1.39	0.08997	.	0.261928	0.38381	N	0.001713	T	0.41166	0.1147	N	0.17345	0.48	0.24591	N	0.993829	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.14783	-1.0460	10	0.30854	T	0.27	-14.9283	5.8957	0.18937	0.0:0.3043:0.2697:0.426	.	92;25;92	B4DJG9;D3DTX1;P78383	.;.;S35B1_HUMAN	V	92;129;25;95;92;61;126;49;25	ENSP00000240333:I92V;ENSP00000409548:I129V;ENSP00000423323:I25V;ENSP00000424367:I95V;ENSP00000426961:I61V;ENSP00000427689:I126V;ENSP00000422104:I49V;ENSP00000426402:I25V	ENSP00000240333:I92V	I	-	1	0	SLC35B1	45138630	0.954000	0.32549	0.989000	0.46669	0.920000	0.55202	1.202000	0.32271	-0.045000	0.13468	-0.912000	0.02778	ATC		0.468	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365564.2	NM_005827		11	38	0	0	0	1	0	11	38				
ZNF516	9658	broad.mit.edu	37	18	74153353	74153353	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:74153353C>A	ENST00000443185.2	-	3	1975	c.1658G>T	c.(1657-1659)cGg>cTg	p.R553L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCAGCGGGCCCGCGCCGCCCT	0.711																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1657-1659)cGg>cTg		zinc finger protein 516							12.0	17.0	15.0					18																	74153353		2025	4138	6163	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74153353C>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.1658G>T	18.37:g.74153353C>A	ENSP00000394757:p.Arg553Leu					ZNF516_ENST00000524431.2_5'UTR	p.R553L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1975	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	553						Missense_Mutation	SNP	ENST00000443185.2	37	c.1658G>T		.	.	.	.	.	.	.	.	.	.	C	6.789	0.514542	0.12944	.	.	ENSG00000101493	ENST00000443185	T	0.10763	2.84	4.88	4.88	0.63580	.	0.500214	0.18649	N	0.135070	T	0.08313	0.0207	.	.	.	0.09310	N	1	P	0.44090	0.826	B	0.38225	0.268	T	0.29058	-1.0024	9	0.66056	D	0.02	.	5.8827	0.18864	0.0:0.6535:0.1806:0.1658	.	553	Q92618	ZN516_HUMAN	L	553	ENSP00000394757:R553L	ENSP00000394757:R553L	R	-	2	0	ZNF516	72282341	0.932000	0.31603	0.179000	0.23059	0.045000	0.14185	1.843000	0.39259	2.410000	0.81850	0.655000	0.94253	CGG		0.711	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		14	27	1	0	9.16793e-09	1	9.99877e-09	14	27				
BAGE2	85319	broad.mit.edu	37	21	11049462	11049462	+	RNA	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11049462C>T	ENST00000470054.1	-	0	646							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAGTTCTGGCACACTTTGCA	0.408																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049462C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049462C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	646	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.408	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	333	0	0	0	1	0	11	333				
GPR119	139760	broad.mit.edu	37	X	129518496	129518496	+	Missense_Mutation	SNP	G	G	A	rs5975187	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:129518496G>A	ENST00000276218.2	-	1	1015	c.926C>T	c.(925-927)tCg>tTg	p.S309L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	309			S -> L (in dbSNP:rs5975187).		insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATTCCTGGCCGAGAGAAAGAG	0.537													G|||	17	0.00450331	0.0106	0.0043	3775	,	,		16257	0.0		0.0	False		,,,				2504	0.0					ENST00000276218.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						c.(925-927)tCg>tTg		G protein-coupled receptor 119		G	LEU/SER	87,3748		0,75,12,1557,559	84.0	77.0	79.0		926	-1.2	0.0	X	dbSNP_114	79	0,6728		0,0,0,2428,1872	yes	missense	GPR119	NM_178471.2	145	0,75,12,3985,2431	AA,AG,A,GG,G		0.0,2.2686,0.8236	benign	309/336	129518496	87,10476	2203	4300	6503	SO:0001583	missense	139760					integral to membrane|plasma membrane	lipid binding	g.chrX:129518496G>A	AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.926C>T	X.37:g.129518496G>A	ENSP00000276218:p.Ser309Leu						p.S309L	NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN			1	1015	-			309		S -> L (in dbSNP:rs5975187).			Q495H7|Q4VBN3	Missense_Mutation	SNP	ENST00000276218.2	37	c.926C>T	CCDS14625.1	2	0.0012055455093429777	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	1.045	-0.677582	0.03378	0.022686	0.0	ENSG00000147262	ENST00000276218	T	0.60171	0.21	4.92	-1.18	0.09617	.	1.473130	0.04762	N	0.426510	T	0.23014	0.0556	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14868	-1.0457	10	0.27082	T	0.32	2.5158	9.8003	0.40759	0.5566:0.0:0.4434:0.0	rs5975187;rs5975187	309	Q8TDV5	GP119_HUMAN	L	309	ENSP00000276218:S309L	ENSP00000276218:S309L	S	-	2	0	GPR119	129346177	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.257000	0.08745	-0.281000	0.09141	-1.098000	0.02139	TCG		0.537	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058270.1	NM_178471		35	28	0	0	0	1	0	35	28				
TCHHL1	126637	broad.mit.edu	37	1	152058473	152058473	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152058473G>C	ENST00000368806.1	-	3	1749	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	562							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACCTGTCTCTGAGCTGCTATT	0.542																																						ENST00000368806.1																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60						c.(1684-1686)tCa>tGa		trichohyalin-like 1							133.0	129.0	130.0					1																	152058473		2203	4300	6503	SO:0001587	stop_gained	126637						calcium ion binding	g.chr1:152058473G>C		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1685C>G	1.37:g.152058473G>C	ENSP00000357796:p.Ser562*						p.S562*	NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	1749	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		562					B2RPK8|Q5VTJ9	Nonsense_Mutation	SNP	ENST00000368806.1	37	c.1685C>G	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	33	5.214651	0.95104	.	.	ENSG00000182898	ENST00000368806	.	.	.	5.6	3.63	0.41609	.	0.248378	0.21219	N	0.078164	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-3.8141	6.3545	0.21395	0.0916:0.0:0.7276:0.1809	.	.	.	.	X	562	.	ENSP00000357796:S562X	S	-	2	0	TCHHL1	150325097	0.988000	0.35896	0.660000	0.29694	0.007000	0.05969	1.378000	0.34328	1.379000	0.46325	0.655000	0.94253	TCA		0.542	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		40	150	0	0	0	1	0	40	150				
ZNF696	79943	broad.mit.edu	37	8	144378415	144378415	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:144378415C>T	ENST00000330143.3	+	3	979	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	190					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)			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCAAGGCCTTCGGCCAGAGCT	0.711																																						ENST00000330143.3																			0				lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8						c.(568-570)ttC>ttT		zinc finger protein 696							17.0	15.0	16.0					8																	144378415		2195	4293	6488	SO:0001819	synonymous_variant	79943				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144378415C>T	AK024191	CCDS6399.1	8q24.3	2013-01-08				ENSG00000185730		"""Zinc fingers, C2H2-type"""	25872	protein-coding gene	gene with protein product							Standard	NM_030895		Approved	FLJ14129	uc003yxy.4	Q9H7X3		ENST00000330143.3:c.570C>T	8.37:g.144378415C>T							p.F190F	NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		3	979	+	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		190					A0AVE2	Silent	SNP	ENST00000330143.3	37	c.570C>T	CCDS6399.1																																																																																				0.711	ZNF696-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381164.2	NM_030895		14	28	0	0	0	1	0	14	28				
C10orf10	11067	broad.mit.edu	37	10	45473055	45473055	+	Missense_Mutation	SNP	T	T	A	rs201753865		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:45473055T>A	ENST00000298295.3	-	2	641	c.424A>T	c.(424-426)Agc>Tgc	p.S142C	RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.5_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	142						mitochondrion (GO:0005739)				lung(1)	1						ATGGGCTTGCTGCTGTCCATC	0.632																																						ENST00000298295.3																			0				lung(1)	1						c.(424-426)Agc>Tgc		chromosome 10 open reading frame 10							31.0	34.0	33.0					10																	45473055		2203	4300	6503	SO:0001583	missense	11067					mitochondrion		g.chr10:45473055T>A	AB022718	CCDS7210.1	10q11.21	2014-07-31			ENSG00000165507	ENSG00000165507			23355	protein-coding gene	gene with protein product	"""decidual protein induced by progesterone"", ""fasting induced"", ""fat-specific expressed gene"""	611309				24530860, 19937567, 16123073	Standard	NM_007021		Approved	DEPP, FIG, Fseg	uc001jbr.4	Q9NTK1	OTTHUMG00000018063	ENST00000298295.3:c.424A>T	10.37:g.45473055T>A	ENSP00000298295:p.Ser142Cys					C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000340258.4_Intron|RASSF4_ENST00000472561.1_Intron	p.S142C	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN			2	641	-			142					B2R6A1|O94997|Q5T735|Q76MX8	Missense_Mutation	SNP	ENST00000298295.3	37	c.424A>T	CCDS7210.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.828345	0.32329	.	.	ENSG00000165507	ENST00000298295	T	0.46063	0.88	4.38	-2.85	0.05734	.	0.982317	0.08279	N	0.970209	T	0.30039	0.0752	N	0.14661	0.345	0.09310	N	1	P	0.50156	0.932	P	0.47162	0.54	T	0.35748	-0.9776	10	0.72032	D	0.01	-4.603	9.2372	0.37473	0.0:0.3559:0.0:0.6441	.	142	Q9NTK1	DEPP_HUMAN	C	142	ENSP00000298295:S142C	ENSP00000298295:S142C	S	-	1	0	C10orf10	44793061	0.000000	0.05858	0.000000	0.03702	0.057000	0.15508	-0.276000	0.08514	-0.832000	0.04251	-0.177000	0.13119	AGC		0.632	C10orf10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047758.1	NM_007021		7	38	0	0	0	1	0	7	38				
ERMN	57471	broad.mit.edu	37	2	158177959	158177959	+	Missense_Mutation	SNP	G	G	T	rs373157688		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:158177959G>T	ENST00000410096.1	-	3	970	c.679C>A	c.(679-681)Cca>Aca	p.P227T	ERMN_ENST00000535935.1_Missense_Mutation_p.P121T|ERMN_ENST00000397283.2_Missense_Mutation_p.P240T|ERMN_ENST00000420719.2_Missense_Mutation_p.P207T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	227					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						CTGCTCAGTGGGGAGTCCTCA	0.413																																						ENST00000410096.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(679-681)Cca>Aca		ermin, ERM-like protein							175.0	176.0	175.0					2																	158177959		1987	4182	6169	SO:0001583	missense	57471					cytoplasm|cytoskeleton		g.chr2:158177959G>T	AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.679C>A	2.37:g.158177959G>T	ENSP00000387047:p.Pro227Thr					ERMN_ENST00000420719.2_Missense_Mutation_p.P207T|ERMN_ENST00000397283.2_Missense_Mutation_p.P240T|ERMN_ENST00000535935.1_Missense_Mutation_p.P121T	p.P227T	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN			3	970	-			227					B4DKA6|Q9ULN1	Missense_Mutation	SNP	ENST00000410096.1	37	c.679C>A	CCDS46431.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285016	0.59867	.	.	ENSG00000136541	ENST00000410096;ENST00000397283;ENST00000535935;ENST00000420719	.	.	.	5.88	4.98	0.66077	.	0.087681	0.50627	D	0.000117	T	0.62245	0.2412	L	0.36672	1.1	0.34395	D	0.694586	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.63283	0.913;0.913;0.913	T	0.74497	-0.3646	9	0.72032	D	0.01	-1.0826	16.5548	0.84482	0.0:0.1308:0.8692:0.0	.	207;240;227	B4DIZ1;Q8TAM6-2;Q8TAM6	.;.;ERMIN_HUMAN	T	227;240;121;207	.	ENSP00000380453:P240T	P	-	1	0	ERMN	157886205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.471000	0.45127	1.439000	0.47511	0.655000	0.94253	CCA		0.413	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332659.1	NM_001009959		45	181	1	0	1.00776e-21	1	1.21698e-21	45	181				
AGAP11	119385	broad.mit.edu	37	10	88759231	88759231	+	RNA	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:88759231G>T	ENST00000444431.1	+	0	361				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										TACCTTTCTGGAATGGTGCAT	0.353																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11																																						119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88759231G>T			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88759231G>T						RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				Q8TF27	AGA11_HUMAN			0	361	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.353	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		25	75	1	0	4.7796e-09	1	5.26209e-09	25	75				
ITPR2	3709	broad.mit.edu	37	12	26540393	26540393	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:26540393C>T	ENST00000381340.3	-	55	8247	c.7831G>A	c.(7831-7833)Gaa>Aaa	p.E2611K	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2611					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACATAACTTTCAGGTCCAGTG	0.378																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7831-7833)Gaa>Aaa		inositol 1,4,5-trisphosphate receptor, type 2							207.0	187.0	193.0					12																	26540393		1886	4104	5990	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26540393C>T	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7831G>A	12.37:g.26540393C>T	ENSP00000370744:p.Glu2611Lys					RP11-513G19.1_ENST00000535324.1_RNA	p.E2611K	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			55	8247	-	Colorectal(261;0.0847)		2611					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.7831G>A	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	35	5.596009	0.96602	.	.	ENSG00000123104	ENST00000381340	T	0.43688	0.94	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.90922	3.16	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.79860	-0.1625	10	0.87932	D	0	.	18.736	0.91755	0.0:1.0:0.0:0.0	.	2611	Q14571	ITPR2_HUMAN	K	2611	ENSP00000370744:E2611K	ENSP00000370744:E2611K	E	-	1	0	ITPR2	26431660	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.585000	0.82584	2.637000	0.89404	0.563000	0.77884	GAA		0.378	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		4	153	0	0	0	1	0	4	153				
ZBED4	9889	broad.mit.edu	37	22	50278751	50278751	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:50278751G>A	ENST00000216268.5	+	2	1918	c.1441G>A	c.(1441-1443)Ggc>Agc	p.G481S		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	481						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCGGTACTGCGGCTGTGCCAT	0.587																																						ENST00000216268.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(1441-1443)Ggc>Agc		zinc finger, BED-type containing 4							82.0	88.0	86.0					22																	50278751		2203	4300	6503	SO:0001583	missense	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50278751G>A	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1441G>A	22.37:g.50278751G>A	ENSP00000216268:p.Gly481Ser						p.G481S	NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	1918	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	481					B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	ENST00000216268.5	37	c.1441G>A	CCDS33677.1	.	.	.	.	.	.	.	.	.	.	G	1.054	-0.675066	0.03378	.	.	ENSG00000100426	ENST00000216268	T	0.39997	1.05	5.32	-7.97	0.01139	Zinc finger, BED-type predicted (3);	0.276969	0.40064	N	0.001193	T	0.16300	0.0392	N	0.10707	0.03	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13522	-1.0506	10	0.07482	T	0.82	-4.7078	16.3793	0.83439	0.4524:0.0:0.5476:0.0	.	481	O75132	ZBED4_HUMAN	S	481	ENSP00000216268:G481S	ENSP00000216268:G481S	G	+	1	0	ZBED4	48664755	0.116000	0.22171	0.006000	0.13384	0.048000	0.14542	0.292000	0.19011	-2.143000	0.00803	-0.290000	0.09829	GGC		0.587	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		47	242	0	0	0	1	0	47	242				
PRR19	284338	broad.mit.edu	37	19	42813950	42813950	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:42813950G>A	ENST00000499536.2	+	1	1025	c.214G>A	c.(214-216)Gag>Aag	p.E72K	PRR19_ENST00000341747.3_Missense_Mutation_p.E72K|PRR19_ENST00000598490.1_Missense_Mutation_p.E72K			A6NJB7	PRR19_HUMAN	proline rich 19	72										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCTGAGCCGGGAGCACCGGGG	0.627																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(214-216)Gag>Aag		proline rich 19							76.0	90.0	85.0					19																	42813950		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42813950G>A	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.214G>A	19.37:g.42813950G>A	ENSP00000445247:p.Glu72Lys					PRR19_ENST00000341747.3_Missense_Mutation_p.E72K|PRR19_ENST00000598490.1_Missense_Mutation_p.E72K	p.E72K			A6NJB7	PRR19_HUMAN			1	1025	+		Prostate(69;0.00682)	72					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.214G>A	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569959	0.65765	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	4.73	3.7	0.42460	.	0.508177	0.16385	N	0.216733	T	0.40743	0.1129	L	0.32530	0.975	0.32275	N	0.568353	B;B	0.19073	0.033;0.019	B;B	0.19946	0.027;0.015	T	0.49818	-0.8899	9	0.54805	T	0.06	4.2492	8.8584	0.35242	0.1017:0.0:0.8983:0.0	.	72;72	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	K	72	.	ENSP00000342709:E72K	E	+	1	0	PRR19	47505790	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.831000	0.39141	1.352000	0.45808	0.650000	0.86243	GAG		0.627	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		48	189	0	0	0	1	0	48	189				
EPHA5	2044	broad.mit.edu	37	4	66467457	66467457	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:66467457G>A	ENST00000273854.3	-	3	1412	c.812C>T	c.(811-813)cCt>cTt	p.P271L	EPHA5_ENST00000511294.1_Missense_Mutation_p.P271L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P271L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P271L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	271	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTTTGGGAGGTTCATCGGT	0.532										TSP Lung(17;0.13)																												ENST00000273854.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						c.(811-813)cCt>cTt		EPH receptor A5							83.0	80.0	81.0					4																	66467457		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66467457G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.812C>T	4.37:g.66467457G>A	ENSP00000273854:p.Pro271Leu	TSP Lung(17;0.13)				EPHA5_ENST00000511294.1_Missense_Mutation_p.P271L|EPHA5_ENST00000432638.2_Missense_Mutation_p.P271L|EPHA5_ENST00000354839.4_Missense_Mutation_p.P271L	p.P271L	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN			3	1412	-			271			Cys-rich.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.812C>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497354	0.64186	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.74737	-0.76;-0.87;-0.73;-0.76	5.83	5.83	0.93111	.	0.100063	0.44688	D	0.000432	T	0.70701	0.3254	L	0.39326	1.205	0.58432	D	0.999996	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.12156	0.003;0.001;0.007;0.001	T	0.65179	-0.6231	10	0.66056	D	0.02	.	20.1208	0.97960	0.0:0.0:1.0:0.0	.	271;271;271;271	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	271	ENSP00000273854:P271L;ENSP00000389208:P271L;ENSP00000346899:P271L;ENSP00000427638:P271L	ENSP00000273854:P271L	P	-	2	0	EPHA5	66150052	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	5.301000	0.65727	2.758000	0.94735	0.655000	0.94253	CCT		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		26	67	0	0	0	1	0	26	67				
FBXW7	55294	broad.mit.edu	37	4	153247165	153247165	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:153247165G>C	ENST00000281708.4	-	10	2866	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S428*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S370*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S466*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	546					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TACCTGTAATGAATAGACTCT	0.398			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1636-1638)tCa>tGa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							146.0	143.0	144.0					4																	153247165		2203	4300	6503	SO:0001587	stop_gained	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247165G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1637C>G	4.37:g.153247165G>C	ENSP00000281708:p.Ser546*					FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S428*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S466*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S546*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.S370*	p.S546*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2866	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	546					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1637C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	38	6.843028	0.97881	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.0123	20.2406	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	546;428;466;370	.	ENSP00000263981:S466X	S	-	2	0	FBXW7	153466615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	TCA		0.398	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			42	69	0	0	0	1	0	42	69				
LMNB2	84823	broad.mit.edu	37	19	2431827	2431827	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:2431827C>A	ENST00000582871.1	-	10	1690	c.1604G>T	c.(1603-1605)gGc>gTc	p.G535V	LMNB2_ENST00000325327.3_Missense_Mutation_p.G555V|LMNB2_ENST00000475819.1_5'UTR	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	535	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGCCCGTGCCCCAGCTGCT	0.687																																						ENST00000325327.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1663-1665)gGc>gTc		lamin B2							52.0	45.0	47.0					19																	2431827		2201	4298	6499	SO:0001583	missense	84823					nuclear inner membrane	structural molecule activity	g.chr19:2431827C>A	M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1604G>T	19.37:g.2431827C>A	ENSP00000462730:p.Gly535Val					LMNB2_ENST00000582871.1_Missense_Mutation_p.G535V|LMNB2_ENST00000475819.1_5'UTR	p.G555V			Q03252	LMNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1726	-		Hepatocellular(1079;0.137)	535			Tail.		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	ENST00000582871.1	37	c.1664G>T		.	.	.	.	.	.	.	.	.	.	C	23.7	4.442712	0.83993	.	.	ENSG00000176619	ENST00000325327	D	0.98958	-5.27	3.84	3.84	0.44239	Intermediate filament, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99102	0.9691	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99050	1.0827	10	0.56958	D	0.05	.	14.5159	0.67818	0.0:1.0:0.0:0.0	.	535	Q03252	LMNB2_HUMAN	V	535	ENSP00000327054:G535V	ENSP00000327054:G535V	G	-	2	0	LMNB2	2382827	1.000000	0.71417	0.987000	0.45799	0.714000	0.41099	7.384000	0.79751	1.989000	0.58080	0.544000	0.68410	GGC		0.687	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032737		19	49	1	0	3.32936e-07	1	3.60853e-07	19	49				
SLCO2A1	6578	broad.mit.edu	37	3	133663989	133663989	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:133663989G>A	ENST00000310926.4	-	10	1684	c.1411C>T	c.(1411-1413)Cat>Tat	p.H471Y	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.H395Y	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	471	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CAGCCGGCATGGCAAGGGGAG	0.592																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1411-1413)Cat>Tat		solute carrier organic anion transporter family, member 2A1							153.0	152.0	152.0					3																	133663989		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133663989G>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1411C>T	3.37:g.133663989G>A	ENSP00000311291:p.His471Tyr					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.H395Y	p.H471Y	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			10	1684	-			471			Kazal-like.		Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1411C>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186174	0.38609	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.04454	3.62;3.62	5.45	5.45	0.79879	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.239409	0.41001	D	0.000966	T	0.10121	0.0248	M	0.62016	1.91	0.58432	D	0.999999	D;P;P	0.54601	0.967;0.811;0.849	P;P;P	0.53722	0.733;0.572;0.521	T	0.10543	-1.0625	10	0.02654	T	1	.	13.03	0.58837	0.0838:0.0:0.9162:0.0	.	290;395;471	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	Y	471;395	ENSP00000311291:H471Y;ENSP00000418893:H395Y	ENSP00000311291:H471Y	H	-	1	0	SLCO2A1	135146679	1.000000	0.71417	0.997000	0.53966	0.485000	0.33311	3.237000	0.51344	2.559000	0.86315	0.491000	0.48974	CAT		0.592	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		158	285	0	0	0	1	0	158	285				
GPR1	2825	broad.mit.edu	37	2	207041495	207041495	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041495T>C	ENST00000407325.2	-	3	839	c.477A>G	c.(475-477)atA>atG	p.I159M	GPR1_ENST00000437420.1_Missense_Mutation_p.I159M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	159					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GCCAGATGAATATAATGACAA	0.433																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(475-477)atA>atG		G protein-coupled receptor 1							94.0	95.0	95.0					2																	207041495		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041495T>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.477A>G	2.37:g.207041495T>C	ENSP00000384345:p.Ile159Met					GPR1_ENST00000437420.1_Missense_Mutation_p.I159M	p.I159M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	839	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	159					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.477A>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	T	8.132	0.783375	0.16189	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.84	0.179	0.15063	GPCR, rhodopsin-like superfamily (1);	0.423208	0.24681	N	0.036466	T	0.26122	0.0637	L	0.48935	1.535	0.09310	N	1	B	0.26002	0.139	B	0.21360	0.034	T	0.13229	-1.0517	10	0.42905	T	0.14	.	0.5171	0.00605	0.1884:0.2238:0.2242:0.3636	.	159	P46091	GPR1_HUMAN	M	159	ENSP00000384345:I159M;ENSP00000397535:I159M;ENSP00000414836:I159M;ENSP00000391146:I159M	ENSP00000384345:I159M	I	-	3	3	GPR1	206749740	0.000000	0.05858	0.001000	0.08648	0.850000	0.48378	-0.143000	0.10296	0.116000	0.18110	-0.256000	0.11100	ATA		0.433	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		30	99	0	0	0	1	0	30	99				
PLG	5340	broad.mit.edu	37	6	161159610	161159610	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:161159610G>C	ENST00000308192.9	+	15	1906	c.1843G>C	c.(1843-1845)Gag>Cag	p.E615Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	615	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GATATCCCCAGAGTGGGTGTT	0.408																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(1843-1845)Gag>Cag		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						148.0	137.0	141.0					6																	161159610		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161159610G>C	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1843G>C	6.37:g.161159610G>C	ENSP00000308938:p.Glu615Gln						p.E615Q	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	15	1906	+			615			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.1843G>C	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.405808	0.01155	.	.	ENSG00000122194	ENST00000308192;ENST00000316325	D	0.88124	-2.34	5.19	-0.234	0.13074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.599461	0.13619	U	0.374553	T	0.41558	0.1164	N	0.04018	-0.295	0.27875	N	0.939906	B	0.10296	0.003	B	0.17433	0.018	T	0.48115	-0.9063	10	0.02654	T	1	.	6.4807	0.22061	0.2082:0.3961:0.3957:0.0	.	615	P00747	PLMN_HUMAN	Q	615;15	ENSP00000308938:E615Q	ENSP00000308938:E615Q	E	+	1	0	PLG	161079600	0.566000	0.26618	0.818000	0.32626	0.627000	0.37826	0.886000	0.28241	0.239000	0.21243	0.650000	0.86243	GAG		0.408	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		24	102	0	0	0	1	0	24	102				
TSGA10	80705	broad.mit.edu	37	2	99695171	99695171	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:99695171T>C	ENST00000393483.3	-	12	1677	c.833A>G	c.(832-834)gAt>gGt	p.D278G	TSGA10_ENST00000539964.1_Missense_Mutation_p.D278G|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000542655.1_Missense_Mutation_p.D278G|TSGA10_ENST00000410001.1_Missense_Mutation_p.D278G|TSGA10_ENST00000355053.4_Missense_Mutation_p.D278G	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	278					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGATTTTTTATCCAAACATGC	0.363																																						ENST00000393483.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						c.(832-834)gAt>gGt		testis specific, 10							112.0	108.0	109.0					2																	99695171		2202	4300	6502	SO:0001583	missense	80705				spermatogenesis	cytoplasm|nuclear membrane		g.chr2:99695171T>C	AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.833A>G	2.37:g.99695171T>C	ENSP00000377123:p.Asp278Gly					TSGA10_ENST00000410001.1_Missense_Mutation_p.D278G|TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.D278G|TSGA10_ENST00000542655.1_Missense_Mutation_p.D278G|TSGA10_ENST00000355053.4_Missense_Mutation_p.D278G	p.D278G	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN			12	1677	-			278					B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	c.833A>G	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.850661	0.71719	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.76578	0.7;0.7;0.7;0.7;-1.03;-1.03;0.7	5.15	5.15	0.70609	.	0.315279	0.27549	N	0.018876	T	0.79799	0.4508	L	0.54323	1.7	0.42940	D	0.994345	D;D	0.54207	0.965;0.965	P;P	0.52793	0.709;0.636	T	0.81002	-0.1130	10	0.52906	T	0.07	-24.5211	11.2807	0.49192	0.0:0.0:0.0:1.0	.	278;278	B7Z925;Q9BZW7	.;TSG10_HUMAN	G	278	ENSP00000377123:D278G;ENSP00000386956:D278G;ENSP00000347161:D278G;ENSP00000444419:D278G;ENSP00000386508:D278G;ENSP00000377122:D278G;ENSP00000445623:D278G	ENSP00000347161:D278G	D	-	2	0	TSGA10	99061603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.597000	0.61062	2.159000	0.67721	0.383000	0.25322	GAT		0.363	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911		7	103	0	0	0	1	0	7	103				
PNPLA7	375775	broad.mit.edu	37	9	140356440	140356440	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:140356440G>T	ENST00000277531.4	-	31	3810	c.3624C>A	c.(3622-3624)ggC>ggA	p.G1208G	NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000371473.3_5'Flank|NSMF_ENST00000437259.1_5'Flank|PNPLA7_ENST00000406427.1_Silent_p.G1233G|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000371457.1_Silent_p.G814G|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371474.3_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1208					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTCCAGCACGCCGCTGCGGC	0.716																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3697-3699)ggC>ggA		patatin-like phospholipase domain containing 7							12.0	14.0	13.0					9																	140356440		2195	4289	6484	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140356440G>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3624C>A	9.37:g.140356440G>T						PNPLA7_ENST00000371457.1_Silent_p.G814G|PNPLA7_ENST00000277531.4_Silent_p.G1208G|PNPLA7_ENST00000492278.1_5'UTR	p.G1233G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	32	4035	-	all_cancers(76;0.126)		1208					B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.3699C>A	CCDS7045.1																																																																																				0.716	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		5	9	1	0	0.217242	1	0.218494	5	9				
ROBO3	64221	broad.mit.edu	37	11	124740596	124740596	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:124740596T>A	ENST00000397801.1	+	6	1197	c.1005T>A	c.(1003-1005)gcT>gcA	p.A335A	ROBO3_ENST00000538940.1_Silent_p.A313A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	335	Ig-like C2-type 3.				axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGGGCCGCGCTGAAGCATCTG	0.582																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(1003-1005)gcT>gcA		roundabout, axon guidance receptor, homolog 3 (Drosophila)							47.0	51.0	50.0					11																	124740596		2145	4255	6400	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124740596T>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.1005T>A	11.37:g.124740596T>A						ROBO3_ENST00000538940.1_Silent_p.A313A	p.A335A	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	6	1197	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	335			Ig-like C2-type 3.			Silent	SNP	ENST00000397801.1	37	c.1005T>A	CCDS44755.1																																																																																				0.582	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	19	0	0	0	1	0	3	19				
HTN1	3346	broad.mit.edu	37	4	70920042	70920042	+	Missense_Mutation	SNP	G	G	A	rs552053383		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:70920042G>A	ENST00000511674.1	+	3	126	c.55G>A	c.(55-57)Gct>Act	p.A19T	HTN1_ENST00000246896.3_Missense_Mutation_p.A19T			P15515	HIS1_HUMAN	histatin 1	19					biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)		p.A19T(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						TTCCAAGAGCGCTGATTCACA	0.229																																						ENST00000511674.1																			1	Substitution - Missense(1)	p.A19T(1)	endometrium(1)	endometrium(1)|large_intestine(1)|lung(2)|skin(2)	6						c.(55-57)Gct>Act		histatin 1							24.0	23.0	24.0					4																	70920042		2092	4217	6309	SO:0001583	missense	3346				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding	g.chr4:70920042G>A		CCDS3534.1	4q13	2008-02-05			ENSG00000126550	ENSG00000126550			5283	protein-coding gene	gene with protein product		142701					Standard	NM_002159		Approved	HIS1	uc003hex.3	P15515	OTTHUMG00000129397	ENST00000511674.1:c.55G>A	4.37:g.70920042G>A	ENSP00000424501:p.Ala19Thr					HTN1_ENST00000246896.3_Missense_Mutation_p.A19T	p.A19T			P15515	HIS1_HUMAN			3	126	+			19						Missense_Mutation	SNP	ENST00000511674.1	37	c.55G>A	CCDS3534.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.266597	0.23136	.	.	ENSG00000126550	ENST00000246896;ENST00000511674	T;T	0.64085	-0.08;-0.08	1.94	1.94	0.25998	.	.	.	.	.	T	0.72684	0.3491	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.71870	0.975	T	0.58053	-0.7704	8	0.87932	D	0	.	7.3709	0.26800	0.0:0.0:1.0:0.0	.	19	P15515	HIS1_HUMAN	T	19	ENSP00000246896:A19T;ENSP00000424501:A19T	ENSP00000246896:A19T	A	+	1	0	HTN1	70954631	0.607000	0.26958	0.333000	0.25482	0.037000	0.13140	0.699000	0.25586	1.378000	0.46305	0.313000	0.20887	GCT		0.229	HTN1-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362220.2			25	99	0	0	0	1	0	25	99				
REV3L	5980	broad.mit.edu	37	6	111696917	111696917	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:111696917T>C	ENST00000358835.3	-	14	3095	c.2641A>G	c.(2641-2643)Act>Gct	p.T881A	REV3L_ENST00000435970.1_Missense_Mutation_p.T803A|REV3L_ENST00000368802.3_Missense_Mutation_p.T881A|REV3L_ENST00000368805.1_Missense_Mutation_p.T881A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	881					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCTCCACGAGTGGTTTTAGTT	0.358								DNA polymerases (catalytic subunits)																														ENST00000435970.1																			0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(2407-2409)Act>Gct	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit							61.0	67.0	65.0					6																	111696917		2196	4297	6493	SO:0001583	missense	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111696917T>C	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2641A>G	6.37:g.111696917T>C	ENSP00000351697:p.Thr881Ala					REV3L_ENST00000358835.3_Missense_Mutation_p.T881A|REV3L_ENST00000368805.1_Missense_Mutation_p.T881A|REV3L_ENST00000368802.3_Missense_Mutation_p.T881A	p.T803A			O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	15	3223	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	881					O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	37	c.2407A>G	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.794608	0.00617	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.01505	4.91;4.91;4.91;4.82	5.47	1.65	0.23941	Ribonuclease H-like (1);	2.679590	0.01116	N	0.005696	T	0.00356	0.0011	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46665	-0.9175	10	0.15066	T	0.55	-23.6746	1.9179	0.03301	0.1259:0.1427:0.3586:0.3728	.	881	O60673	DPOLZ_HUMAN	A	881;881;881;803	ENSP00000357792:T881A;ENSP00000357795:T881A;ENSP00000351697:T881A;ENSP00000402003:T803A	ENSP00000351697:T881A	T	-	1	0	REV3L	111803610	0.006000	0.16342	0.026000	0.17262	0.032000	0.12392	0.522000	0.22909	0.036000	0.15547	-1.427000	0.01099	ACT		0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		21	138	0	0	0	1	0	21	138				
ADCY4	196883	broad.mit.edu	37	14	24800508	24800508	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:24800508C>T	ENST00000310677.4	-	6	837	c.724G>A	c.(724-726)Gag>Aag	p.E242K	ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242K|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Missense_Mutation_p.E242K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	242					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCATGATCTCTGCCTTCATC	0.552																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(724-726)Gag>Aag		adenylate cyclase 4							102.0	85.0	91.0					14																	24800508		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24800508C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.724G>A	14.37:g.24800508C>T	ENSP00000312126:p.Glu242Lys					ADCY4_ENST00000418030.2_Missense_Mutation_p.E242K|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242K	p.E242K	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	6	837	-			242					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.724G>A	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163762	0.94727	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.77489	-1.1;-1.1;-1.1	4.89	4.89	0.63831	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.50627	D	0.000110	D	0.83018	0.5163	L	0.52573	1.65	0.80722	D	1	D	0.55800	0.973	P	0.60173	0.87	D	0.84354	0.0534	10	0.62326	D	0.03	.	15.5914	0.76534	0.0:1.0:0.0:0.0	.	242	Q8NFM4	ADCY4_HUMAN	K	242	ENSP00000312126:E242K;ENSP00000452250:E242K;ENSP00000393177:E242K	ENSP00000312126:E242K	E	-	1	0	ADCY4	23870348	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.557000	0.82243	2.543000	0.85770	0.561000	0.74099	GAG		0.552	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			14	59	0	0	0	1	0	14	59				
NARS2	79731	broad.mit.edu	37	11	78285432	78285432	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:78285432G>A	ENST00000281038.5	-	1	477	c.102C>T	c.(100-102)ctC>ctT	p.L34L	NARS2_ENST00000528850.1_5'Flank	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	34					asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TCTGAGCCCCGAGAGCGTCCC	0.587																																						ENST00000281038.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27						c.(100-102)ctC>ctT		asparaginyl-tRNA synthetase 2, mitochondrial (putative)	L-Asparagine(DB00174)						98.0	102.0	100.0					11																	78285432		2200	4291	6491	SO:0001819	synonymous_variant	79731				asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr11:78285432G>A	BC007800	CCDS8261.1, CCDS58164.1	11q14.1	2011-07-01	2007-02-23		ENSG00000137513	ENSG00000137513	6.1.1.22	"""Aminoacyl tRNA synthetases / Class II"""	26274	protein-coding gene	gene with protein product	"""asparagine tRNA ligase 2, mitochondrial (putative)"""	612803				15779907	Standard	NM_024678		Approved	FLJ23441, SLM5	uc001ozi.3	Q96I59	OTTHUMG00000166702	ENST00000281038.5:c.102C>T	11.37:g.78285432G>A							p.L34L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN			1	477	-	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)		34					G3V178	Silent	SNP	ENST00000281038.5	37	c.102C>T	CCDS8261.1																																																																																				0.587	NARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391138.2	NM_024678		47	116	0	0	0	1	0	47	116				
MEI1	150365	broad.mit.edu	37	22	42128271	42128271	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42128271C>A	ENST00000401548.3	+	10	1159	c.1119C>A	c.(1117-1119)agC>agA	p.S373R	MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000540833.1_Missense_Mutation_p.S113R|MEI1_ENST00000400107.1_De_novo_Start_InFrame	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGGTGAGGAGCCTGCAGGGAA	0.552																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1117-1119)agC>agA		meiosis inhibitor 1							56.0	61.0	59.0					22																	42128271		2080	4209	6289	SO:0001583	missense	150365						binding	g.chr22:42128271C>A	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.1119C>A	22.37:g.42128271C>A	ENSP00000384115:p.Ser373Arg					MEI1_ENST00000300398.4_De_novo_Start_InFrame|MEI1_ENST00000400107.1_De_novo_Start_InFrame|MEI1_ENST00000540833.1_Missense_Mutation_p.S113R	p.S373R	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			10	1159	+			373						Missense_Mutation	SNP	ENST00000401548.3	37	c.1119C>A	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735503	0.69189	.	.	ENSG00000167077	ENST00000401548;ENST00000540833	T;T	0.17854	2.25;2.25	5.74	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36744	0.0978	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.967;0.998	T	0.11397	-1.0589	10	0.72032	D	0.01	-6.0139	10.4058	0.44256	0.0:0.8451:0.0:0.1549	.	373;373	Q5TIA1;Q5TIA1-4	MEI1_HUMAN;.	R	373;113	ENSP00000384115:S373R;ENSP00000444225:S113R	ENSP00000384115:S373R	S	+	3	2	MEI1	40458217	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	0.909000	0.28558	1.434000	0.47414	0.563000	0.77884	AGC		0.552	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	18	1	0	0.00829132	1	0.00846102	9	18				
PTPRB	5787	broad.mit.edu	37	12	70949734	70949734	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:70949734T>C	ENST00000261266.5	-	17	4284	c.4255A>G	c.(4255-4257)Aag>Gag	p.K1419E	PTPRB_ENST00000451516.2_Missense_Mutation_p.K1329E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000334414.6_Missense_Mutation_p.K1637E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1549E	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1419	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGGTACCTCTTATGGGGCACT	0.478																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(4909-4911)Aag>Gag		protein tyrosine phosphatase, receptor type, B							122.0	116.0	118.0					12																	70949734		1952	4150	6102	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70949734T>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4255A>G	12.37:g.70949734T>C	ENSP00000261266:p.Lys1419Glu					PTPRB_ENST00000451516.2_Missense_Mutation_p.K1329E|PTPRB_ENST00000261266.5_Missense_Mutation_p.K1419E|PTPRB_ENST00000550358.1_Missense_Mutation_p.K1549E|PTPRB_ENST00000550857.1_Missense_Mutation_p.K1329E|PTPRB_ENST00000538708.1_Missense_Mutation_p.K1329E	p.K1637E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		19	4953	-	Renal(347;0.236)		1419					B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4909A>G	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	26.3	4.721313	0.89205	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43	5.56	5.56	0.83823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.148523	0.64402	D	0.000013	T	0.52629	0.1746	N	0.24115	0.695	0.51482	D	0.99992	P;P;P;P;P	0.52170	0.913;0.951;0.913;0.798;0.855	P;P;P;P;P	0.53760	0.615;0.615;0.702;0.734;0.69	T	0.55373	-0.8151	10	0.49607	T	0.09	.	15.7055	0.77577	0.0:0.0:0.0:1.0	.	1329;1329;1637;1419;1549	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	E	1637;1329;1549;1329;1329;1419	ENSP00000334928:K1637E;ENSP00000393028:K1329E;ENSP00000448058:K1549E;ENSP00000438927:K1329E;ENSP00000447302:K1329E;ENSP00000261266:K1419E	ENSP00000261266:K1419E	K	-	1	0	PTPRB	69236001	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.567000	0.67378	2.108000	0.64289	0.460000	0.39030	AAG		0.478	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			17	78	0	0	0	1	0	17	78				
NCOR2	9612	broad.mit.edu	37	12	124856680	124856680	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:124856680C>A	ENST00000405201.1	-	20	2695	c.2695G>T	c.(2695-2697)Ggg>Tgg	p.G899W	NCOR2_ENST00000429285.2_Missense_Mutation_p.G881W|NCOR2_ENST00000397355.1_Missense_Mutation_p.G882W|NCOR2_ENST00000404621.1_Missense_Mutation_p.G881W|NCOR2_ENST00000356219.3_Missense_Mutation_p.G899W|NCOR2_ENST00000404121.2_Missense_Mutation_p.G452W			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	899					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGCCGCTCCCGCCCTCCTTC	0.721																																						ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2695-2697)Ggg>Tgg		nuclear receptor corepressor 2							31.0	41.0	37.0					12																	124856680		2077	4182	6259	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124856680C>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2695G>T	12.37:g.124856680C>A	ENSP00000384018:p.Gly899Trp					NCOR2_ENST00000404621.1_Missense_Mutation_p.G881W|NCOR2_ENST00000397355.1_Missense_Mutation_p.G882W|NCOR2_ENST00000405201.1_Missense_Mutation_p.G899W|NCOR2_ENST00000404121.2_Missense_Mutation_p.G452W|NCOR2_ENST00000429285.2_Missense_Mutation_p.G881W	p.G899W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	21	2850	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		899					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2695G>T	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	6.144	0.394864	0.11638	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.55930	1.52;1.52;1.52;1.52;0.85;1.52;0.49	4.47	1.56	0.23342	.	0.497618	0.22031	N	0.065597	T	0.41305	0.1153	L	0.59436	1.845	0.09310	N	0.999999	B;B;B	0.19073	0.019;0.019;0.033	B;B;B	0.17098	0.004;0.007;0.017	T	0.42949	-0.9421	10	0.66056	D	0.02	-2.635	1.5376	0.02548	0.1276:0.4254:0.1883:0.2586	.	881;882;899	C9J0Q5;C9J239;C9JFD3	.;.;.	W	899;881;899;882;898;452;881;899	ENSP00000384018:G899W;ENSP00000384202:G881W;ENSP00000348551:G899W;ENSP00000380513:G882W;ENSP00000385618:G452W;ENSP00000400281:G881W;ENSP00000402808:G899W	ENSP00000348551:G899W	G	-	1	0	NCOR2	123422633	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.038000	0.12144	0.021000	0.15133	-0.258000	0.10820	GGG		0.721	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		21	75	1	0	5.26018e-13	1	6.03882e-13	21	75				
ONECUT1	3175	broad.mit.edu	37	15	53081731	53081731	+	Silent	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:53081731T>G	ENST00000305901.5	-	1	478	c.351A>C	c.(349-351)acA>acC	p.T117T	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	117					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TGTCCGAGACTGTGGAGATGG	0.642																																						ENST00000305901.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17						c.(349-351)acA>acC		one cut homeobox 1							64.0	55.0	58.0					15																	53081731		2194	4290	6484	SO:0001819	synonymous_variant	3175				endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr15:53081731T>G	U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.351A>C	15.37:g.53081731T>G						ONECUT1_ENST00000561401.2_Intron	p.T117T	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN		all cancers(107;0.0708)	1	478	-			117					B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	c.351A>C	CCDS10150.1																																																																																				0.642	ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2			6	29	0	0	0	1	0	6	29				
PLAC1	10761	broad.mit.edu	37	X	133700082	133700082	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:133700082A>T	ENST00000359237.4	-	3	916	c.631T>A	c.(631-633)Tcc>Acc	p.S211T	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GATCACATGGACCCAATCATA	0.438																																						ENST00000359237.4																			0				large_intestine(4)|lung(1)|pancreas(1)	6						c.(631-633)Tcc>Acc		placenta-specific 1							85.0	81.0	83.0					X																	133700082		2203	4300	6503	SO:0001583	missense	10761				placenta development	extracellular region		g.chrX:133700082A>T	AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.631T>A	X.37:g.133700082A>T	ENSP00000352173:p.Ser211Thr					PLAC1_ENST00000476971.1_5'UTR	p.S211T	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN			3	916	-	Acute lymphoblastic leukemia(192;0.000127)		211						Missense_Mutation	SNP	ENST00000359237.4	37	c.631T>A	CCDS14642.1	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617318	0.28801	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.4	-1.65	0.08291	.	1.115670	0.07165	N	0.851475	T	0.26376	0.0644	N	0.24115	0.695	0.09310	N	1	P	0.40476	0.718	B	0.39258	0.295	T	0.34153	-0.9840	9	0.87932	D	0	-1.2987	11.2022	0.48747	0.2213:0.0:0.7787:0.0	.	211	Q9HBJ0	PLAC1_HUMAN	T	211	.	ENSP00000352173:S211T	S	-	1	0	PLAC1	133527748	0.033000	0.19621	0.001000	0.08648	0.052000	0.14988	-0.033000	0.12246	-0.451000	0.07097	-0.438000	0.05819	TCC		0.438	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058375.1	NM_021796		23	37	0	0	0	1	0	23	37				
SGSM1	129049	broad.mit.edu	37	22	25294004	25294004	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:25294004C>T	ENST00000400359.4	+	20	2260	c.2253C>T	c.(2251-2253)ccC>ccT	p.P751P	SGSM1_ENST00000400358.4_Silent_p.P696P	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	751	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AGAAACAGCCCAAGATCCCCA	0.557																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2086-2088)ccC>ccT		small G protein signaling modulator 1							59.0	70.0	67.0					22																	25294004		2059	4205	6264	SO:0001819	synonymous_variant	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294004C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2253C>T	22.37:g.25294004C>T						SGSM1_ENST00000400359.4_Silent_p.P751P	p.P696P	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2145	+			751			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Silent	SNP	ENST00000400359.4	37	c.2088C>T	CCDS46674.1																																																																																				0.557	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		17	30	0	0	0	1	0	17	30				
TBC1D15	64786	broad.mit.edu	37	12	72315214	72315214	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72315214C>G	ENST00000550746.1	+	17	1898	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	TBC1D15_ENST00000393309.3_Missense_Mutation_p.L366V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L595V|TBC1D15_ENST00000319106.8_Missense_Mutation_p.L603V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	612					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCAATTTCTCTACAGATGGT	0.313																																						ENST00000550746.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(1834-1836)Cta>Gta		TBC1 domain family, member 15							112.0	119.0	117.0					12																	72315214		2203	4300	6503	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72315214C>G	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1834C>G	12.37:g.72315214C>G	ENSP00000448182:p.Leu612Val					TBC1D15_ENST00000319106.8_Missense_Mutation_p.L603V|TBC1D15_ENST00000393309.3_Missense_Mutation_p.L366V|TBC1D15_ENST00000485960.2_Missense_Mutation_p.L595V	p.L612V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN			17	1898	+			612					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1834C>G	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	6.446	0.450463	0.12223	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.09163	3.26;3.27;3.27;3.01	5.29	3.36	0.38483	Rab-GAP/TBC domain (1);	0.518971	0.19718	N	0.107647	T	0.09818	0.0241	L	0.54323	1.7	0.37139	D	0.901617	B;B;B	0.20887	0.049;0.033;0.033	B;B;B	0.22601	0.011;0.04;0.02	T	0.11470	-1.0586	10	0.19147	T	0.46	-5.1738	6.2187	0.20669	0.2134:0.6176:0.0:0.169	.	603;595;612	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	V	612;603;595;366	ENSP00000448182:L612V;ENSP00000318262:L603V;ENSP00000420678:L595V;ENSP00000376986:L366V	ENSP00000318262:L603V	L	+	1	2	TBC1D15	70601481	0.988000	0.35896	1.000000	0.80357	0.975000	0.68041	0.793000	0.26944	1.374000	0.46228	0.591000	0.81541	CTA		0.313	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		47	162	0	0	0	1	0	47	162				
CNTN4	152330	broad.mit.edu	37	3	3084692	3084692	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084692A>C	ENST00000397461.1	+	21	2927	c.2543A>C	c.(2542-2544)gAa>gCa	p.E848A	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520A|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848A|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848A|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520A|CNTN4_ENST00000358480.3_Missense_Mutation_p.E629A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GACAAAGAAGAAAATGCTAGA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2542-2544)gAa>gCa		contactin 4							82.0	76.0	78.0					3																	3084692		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084692A>C	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2543A>C	3.37:g.3084692A>C	ENSP00000380602:p.Glu848Ala					CNTN4_ENST00000358480.3_Missense_Mutation_p.E629A|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520A|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520A|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848A|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848A	p.E848A	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2927	+		Ovarian(110;0.156)	848			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2543A>C	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	15.49	2.850433	0.51270	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.03	5.03	0.67393	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058645	0.64402	D	0.000002	T	0.53126	0.1777	L	0.49350	1.555	0.44227	D	0.997067	B;P	0.36837	0.185;0.571	B;B	0.42959	0.281;0.403	T	0.51076	-0.8751	9	.	.	.	.	15.0619	0.71961	1.0:0.0:0.0:0.0	.	847;848	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	A	848;848;848;629;520;520	ENSP00000396010:E848A;ENSP00000380602:E848A;ENSP00000413642:E848A;ENSP00000351267:E629A;ENSP00000380600:E520A;ENSP00000392077:E520A	.	E	+	2	0	CNTN4	3059692	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.828000	0.75308	2.025000	0.59659	0.533000	0.62120	GAA		0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	42	0	0	0	1	0	4	42				
ZNF93	81931	broad.mit.edu	37	19	20044215	20044215	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:20044215G>T	ENST00000343769.5	+	4	479	c.451G>T	c.(451-453)Ggg>Tgg	p.G151W	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	151					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGATAAATATGGGAAAGTCTT	0.323																																						ENST00000343769.5																			0				endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						c.(451-453)Ggg>Tgg		zinc finger protein 93							46.0	49.0	48.0					19																	20044215		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044215G>T	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.451G>T	19.37:g.20044215G>T	ENSP00000342002:p.Gly151Trp					AC007204.2_ENST00000592245.1_lincRNA	p.G151W	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN			4	479	+			151					A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.451G>T	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.145142	0.37825	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.36157	1.27	0.85	-0.442	0.12253	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43590	0.1254	M	0.64404	1.975	0.23831	N	0.996728	D	0.69078	0.997	P	0.56343	0.796	T	0.28870	-1.0030	9	0.66056	D	0.02	.	4.5089	0.11901	0.3174:0.0:0.6826:0.0	.	151	P35789	ZNF93_HUMAN	W	151	ENSP00000342002:G151W	ENSP00000342002:G151W	G	+	1	0	ZNF93	19905215	0.105000	0.21958	0.490000	0.27465	0.486000	0.33341	0.244000	0.18124	0.192000	0.20272	0.195000	0.17529	GGG		0.323	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2	NM_031218		11	88	1	0	9.70103e-10	1	1.07824e-09	11	88				
DDX18	8886	broad.mit.edu	37	2	118579836	118579836	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:118579836A>G	ENST00000263239.2	+	7	1193	c.1065A>G	c.(1063-1065)ccA>ccG	p.P355P	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	355	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTTTTGCCAAGTAAGTAGG	0.358																																						ENST00000263239.2																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.e7+1		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							58.0	57.0	57.0					2																	118579836		2203	4300	6503	SO:0001630	splice_region_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118579836A>G	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1066+1A>G	2.37:g.118579836A>G						DDX18_ENST00000474694.1_3'UTR	p.P355_splice	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN			7	1193	+			355			Helicase ATP-binding.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Splice_Site	SNP	ENST00000263239.2	37	c.1066_splice	CCDS2120.1																																																																																				0.358	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	Silent	10	50	0	0	0	1	0	10	50				
KIAA0930	23313	broad.mit.edu	37	22	45599049	45599049	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:45599049C>T	ENST00000336156.5	-	7	739	c.674G>A	c.(673-675)cGc>cAc	p.R225H	KIAA0930_ENST00000391627.2_Missense_Mutation_p.R191H|KIAA0930_ENST00000443310.3_Missense_Mutation_p.R207H|MIR1249_ENST00000408671.1_RNA|KIAA0930_ENST00000251993.7_Missense_Mutation_p.R230H|KIAA0930_ENST00000474515.1_5'Flank	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	225										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CTGTGCCATGCGGGCGGCCAC	0.667																																						ENST00000336156.4																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						c.(673-675)cGc>cAc		KIAA0930							80.0	87.0	84.0					22																	45599049		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45599049C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.674G>A	22.37:g.45599049C>T	ENSP00000336720:p.Arg225His					KIAA0930_ENST00000443310.3_Missense_Mutation_p.R207H|KIAA0930_ENST00000391627.2_Missense_Mutation_p.R191H|KIAA0930_ENST00000251993.7_Missense_Mutation_p.R230H	p.R225H	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN			7	739	-			225					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.674G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.903701	0.72754	.	.	ENSG00000100364	ENST00000336156;ENST00000423262;ENST00000251993;ENST00000391627;ENST00000443310	.	.	.	4.88	3.63	0.41609	.	0.365309	0.30185	N	0.010218	T	0.34774	0.0909	L	0.29908	0.895	0.26419	N	0.976131	P;P;D;D	0.71674	0.478;0.95;0.975;0.998	B;P;P;P	0.58577	0.207;0.595;0.46;0.841	T	0.10590	-1.0623	9	0.33940	T	0.23	-29.626	4.8998	0.13769	0.0:0.6036:0.2261:0.1703	.	207;225;230;296	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	H	225;110;230;191;207	.	ENSP00000251993:R230H	R	-	2	0	KIAA0930	43977713	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	4.554000	0.60760	2.280000	0.76307	0.555000	0.69702	CGC		0.667	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		5	398	0	0	0	1	0	5	398				
ABCB4	5244	broad.mit.edu	37	7	87079403	87079403	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:87079403G>A	ENST00000265723.4	-	8	825	c.714C>T	c.(712-714)ctC>ctT	p.L238L	ABCB4_ENST00000453593.1_Silent_p.L238L|ABCB4_ENST00000545634.1_Silent_p.L238L|ABCB4_ENST00000359206.3_Silent_p.L238L|ABCB4_ENST00000358400.3_Silent_p.L238L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	238	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.		L -> V (in dbSNP:rs45596335). {ECO:0000269|Ref.2}.		cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TAAATGCCGAGAGTATCTGGA	0.478																																						ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(712-714)ctC>ctT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							72.0	74.0	74.0					7																	87079403		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87079403G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.714C>T	7.37:g.87079403G>A						ABCB4_ENST00000358400.3_Silent_p.L238L|ABCB4_ENST00000359206.3_Silent_p.L238L|ABCB4_ENST00000545634.1_Silent_p.L238L|ABCB4_ENST00000453593.1_Silent_p.L238L	p.L238L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			8	825	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		238		L -> V (in dbSNP:rs45596335).	ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.714C>T	CCDS5606.1																																																																																				0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		34	125	0	0	0	1	0	34	125				
TPH2	121278	broad.mit.edu	37	12	72388285	72388285	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:72388285A>G	ENST00000333850.3	+	8	1149	c.1008A>G	c.(1006-1008)tcA>tcG	p.S336S		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	336					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCAGTTTTCACAAGAAATAG	0.413																																						ENST00000333850.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1006-1008)tcA>tcG		tryptophan hydroxylase 2	L-Tryptophan(DB00150)						140.0	136.0	137.0					12																	72388285		2203	4300	6503	SO:0001819	synonymous_variant	121278				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr12:72388285A>G	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.1008A>G	12.37:g.72388285A>G							p.S336S	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN			8	1149	+			336					A6NGA4|Q14CB0	Silent	SNP	ENST00000333850.3	37	c.1008A>G	CCDS31859.1																																																																																				0.413	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405234.1	NM_173353		39	131	0	0	0	1	0	39	131				
KDM2B	84678	broad.mit.edu	37	12	121880535	121880535	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:121880535C>T	ENST00000377071.4	-	19	2781	c.2709G>A	c.(2707-2709)aaG>aaA	p.K903K	KDM2B_ENST00000377069.4_Silent_p.K834K|KDM2B_ENST00000542973.1_Silent_p.K271K|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	903					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTCCCTGGTCTTGGGGGGCG	0.697																																						ENST00000377069.4																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(2500-2502)aaG>aaA		lysine (K)-specific demethylase 2B							10.0	11.0	11.0					12																	121880535		1868	4069	5937	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121880535C>T	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2709G>A	12.37:g.121880535C>T						KDM2B_ENST00000542973.1_Silent_p.K271K|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377071.4_Silent_p.K903K	p.K834K	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN			18	2908	-			903					A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.2502G>A	CCDS41850.1																																																																																				0.697	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		8	21	0	0	0	1	0	8	21				
LEO1	123169	broad.mit.edu	37	15	52245395	52245395	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:52245395T>A	ENST00000299601.5	-	8	1466	c.1406A>T	c.(1405-1407)aAt>aTt	p.N469I	LEO1_ENST00000315141.5_Missense_Mutation_p.N409I	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	469					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AAAAAGATGATTGTGGTCGCC	0.373																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	ENST00000299601.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(1405-1407)aAt>aTt		Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)							99.0	87.0	91.0					15																	52245395		2195	4293	6488	SO:0001583	missense	123169				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding	g.chr15:52245395T>A	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1406A>T	15.37:g.52245395T>A	ENSP00000299601:p.Asn469Ile					LEO1_ENST00000315141.5_Missense_Mutation_p.N409I	p.N469I	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN		all cancers(107;0.00264)	8	1466	-			469					Q96N99	Missense_Mutation	SNP	ENST00000299601.5	37	c.1406A>T	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	T	18.58	3.654961	0.67472	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.34	5.34	0.76211	.	0.044787	0.85682	N	0.000000	T	0.67031	0.2850	L	0.37800	1.135	0.80722	D	1	D;B	0.76494	0.999;0.018	D;B	0.85130	0.997;0.037	T	0.65784	-0.6084	9	0.36615	T	0.2	.	15.3254	0.74157	0.0:0.0:0.0:1.0	.	409;469	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	I	469;447;409	.	ENSP00000299601:N469I	N	-	2	0	LEO1	50032687	1.000000	0.71417	1.000000	0.80357	0.158000	0.22134	7.846000	0.86887	2.035000	0.60131	0.459000	0.35465	AAT		0.373	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792		17	57	0	0	0	1	0	17	57				
OPN3	23596	broad.mit.edu	37	1	241761125	241761125	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:241761125T>A	ENST00000366554.2	-	3	974	c.868A>T	c.(868-870)Ata>Tta	p.I290L	OPN3_ENST00000331838.5_Missense_Mutation_p.I211L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	290					detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			ACAATAGATATTGTTGGAGTG	0.383																																						ENST00000366554.2																			0				endometrium(1)|large_intestine(5)|lung(5)	11						c.(868-870)Ata>Tta		opsin 3							165.0	154.0	158.0					1																	241761125		2203	4300	6503	SO:0001583	missense	23596				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity	g.chr1:241761125T>A	AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691	ENST00000366554.2:c.868A>T	1.37:g.241761125T>A	ENSP00000355512:p.Ile290Leu					OPN3_ENST00000331838.5_Missense_Mutation_p.I211L|OPN3_ENST00000469376.1_5'UTR	p.I290L	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		3	974	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	290					Q8IX08|Q9Y344	Missense_Mutation	SNP	ENST00000366554.2	37	c.868A>T	CCDS31072.1	.	.	.	.	.	.	.	.	.	.	T	3.849	-0.032298	0.07543	.	.	ENSG00000054277	ENST00000366554;ENST00000331838	T;T	0.34667	1.35;1.35	4.49	-1.91	0.07641	GPCR, rhodopsin-like superfamily (1);	0.232384	0.35585	N	0.003105	T	0.11922	0.0290	N	0.03194	-0.395	0.24118	N	0.995819	B	0.02656	0.0	B	0.04013	0.001	T	0.17198	-1.0377	10	0.23302	T	0.38	.	5.547	0.17069	0.0:0.3874:0.1371:0.4755	.	290	Q9H1Y3	OPN3_HUMAN	L	290;211	ENSP00000355512:I290L;ENSP00000328018:I211L	ENSP00000328018:I211L	I	-	1	0	OPN3	239827748	0.925000	0.31364	0.066000	0.19879	0.079000	0.17450	0.240000	0.18042	-0.654000	0.05394	-0.408000	0.06270	ATA		0.383	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095713.1	NM_014322		38	101	0	0	0	1	0	38	101				
PCDHGB1	56104	broad.mit.edu	37	5	140732209	140732209	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:140732209C>A	ENST00000523390.1	+	1	2382	c.2382C>A	c.(2380-2382)atC>atA	p.I794I	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_5'Flank	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	794					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACAAAATCGCTTATGACC	0.468																																						ENST00000523390.1																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16						c.(2380-2382)atC>atA									83.0	74.0	77.0					5																	140732209		1925	4126	6051	SO:0001819	synonymous_variant	56104							g.chr5:140732209C>A	AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.2382C>A	5.37:g.140732209C>A						PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	p.I794I	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2382	+								Q3SY75|Q9Y5C8	Silent	SNP	ENST00000523390.1	37	c.2382C>A	CCDS54923.1																																																																																				0.468	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922		9	9	1	0	5.4927e-09	1	6.02816e-09	9	9				
MUC17	140453	broad.mit.edu	37	7	100676291	100676291	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:100676291T>C	ENST00000306151.4	+	3	1658	c.1594T>C	c.(1594-1596)Tca>Cca	p.S532P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	532	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)					TAGCACCCTTTCAACAACTCC	0.498																																						ENST00000306151.4																			0				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						c.(1594-1596)Tca>Cca		mucin 17, cell surface associated							351.0	359.0	356.0					7																	100676291		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676291T>C	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.1594T>C	7.37:g.100676291T>C	ENSP00000302716:p.Ser532Pro						p.S532P	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1658	+	Lung NSC(181;0.136)|all_lung(186;0.182)		532			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1594T>C	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	T	0.697	-0.792388	0.02884	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	1.33	-2.65	0.06095	.	.	.	.	.	T	0.01800	0.0057	L	0.27053	0.805	0.09310	N	1	B	0.17852	0.024	B	0.11329	0.006	T	0.47484	-0.9114	9	0.27082	T	0.32	.	0.7666	0.01016	0.1971:0.1678:0.3774:0.2577	.	532	Q685J3	MUC17_HUMAN	P	532	ENSP00000302716:S532P	ENSP00000302716:S532P	S	+	1	0	MUC17	100463011	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-1.344000	0.02216	-0.949000	0.02662	TCA		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		190	605	0	0	0	1	0	190	605				
TPK1	27010	broad.mit.edu	37	7	144463007	144463007	+	Silent	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:144463007A>T	ENST00000360057.3	-	3	183	c.81T>A	c.(79-81)ccT>ccA	p.P27P	TPK1_ENST00000378099.3_Silent_p.P27P	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	27					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AGTTGTCCAAAGGCTGATTAA	0.318																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000360057.3																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(79-81)ccT>ccA		thiamin pyrophosphokinase 1	Thiamine(DB00152)						100.0	111.0	108.0					7																	144463007		2203	4298	6501	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144463007A>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.81T>A	7.37:g.144463007A>T						TPK1_ENST00000378099.3_Silent_p.P27P	p.P27P	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN			3	183	-			27					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	ENST00000360057.3	37	c.81T>A	CCDS5888.1																																																																																				0.318	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		21	86	0	0	0	1	0	21	86				
RALGAPA1	253959	broad.mit.edu	37	14	36074810	36074810	+	Silent	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:36074810T>A	ENST00000389698.3	-	35	5907	c.5517A>T	c.(5515-5517)gtA>gtT	p.V1839V	RALGAPA1_ENST00000258840.6_Silent_p.V1886V|RALGAPA1_ENST00000382366.3_Silent_p.V1852V|RALGAPA1_ENST00000307138.6_Silent_p.V1839V	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1839	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGACCAGCTACAAAATCTT	0.323																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(5656-5658)gtA>gtT		Ral GTPase activating protein, alpha subunit 1 (catalytic)							85.0	78.0	80.0					14																	36074810		2203	4300	6503	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36074810T>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5517A>T	14.37:g.36074810T>A						RALGAPA1_ENST00000389698.3_Silent_p.V1839V|RALGAPA1_ENST00000382366.3_Silent_p.V1852V|RALGAPA1_ENST00000307138.6_Silent_p.V1839V	p.V1886V			Q6GYQ0	RGPA1_HUMAN			36	6048	-			1839			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.5658A>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	T	8.010	0.757353	0.15846	.	.	ENSG00000174373	ENST00000554573	.	.	.	5.3	-1.58	0.08479	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.7927	3.5758	0.07934	0.362:0.1982:0.0:0.4398	.	.	.	.	L	122	.	.	X	-	2	0	RALGAPA1	35144561	0.935000	0.31712	0.997000	0.53966	0.984000	0.73092	-0.064000	0.11636	-0.194000	0.10399	-1.385000	0.01166	TAG		0.323	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		35	102	0	0	0	1	0	35	102				
PPL	5493	broad.mit.edu	37	16	4935231	4935231	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4935231G>A	ENST00000345988.2	-	22	3514	c.3425C>T	c.(3424-3426)gCc>gTc	p.A1142V	PPL_ENST00000590782.2_Missense_Mutation_p.A1140V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1142					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGAGCCTTGGCAGCCTCGTC	0.617																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3424-3426)gCc>gTc		periplakin							94.0	86.0	88.0					16																	4935231		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935231G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3425C>T	16.37:g.4935231G>A	ENSP00000340510:p.Ala1142Val					PPL_ENST00000590782.2_Missense_Mutation_p.A1140V	p.A1142V	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3514	-			1142					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3425C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013677	0.54468	.	.	ENSG00000118898	ENST00000345988	T	0.51325	0.71	5.17	4.15	0.48705	.	0.301827	0.31601	N	0.007374	T	0.38161	0.1030	L	0.40543	1.245	0.32673	N	0.516498	P	0.38992	0.653	B	0.35073	0.195	T	0.55198	-0.8178	10	0.41790	T	0.15	.	14.4402	0.67311	0.0:0.0:0.8521:0.1479	.	1142	O60437	PEPL_HUMAN	V	1142	ENSP00000340510:A1142V	ENSP00000340510:A1142V	A	-	2	0	PPL	4875232	1.000000	0.71417	0.784000	0.31847	0.827000	0.46813	6.263000	0.72521	2.430000	0.82344	0.561000	0.74099	GCC		0.617	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		24	67	0	0	0	1	0	24	67				
DST	667	broad.mit.edu	37	6	56479213	56479213	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:56479213T>C	ENST00000361203.3	-	33	4373	c.4366A>G	c.(4366-4368)Atc>Gtc	p.I1456V	DST_ENST00000370769.4_Missense_Mutation_p.I1456V|DST_ENST00000244364.6_Missense_Mutation_p.I1130V|DST_ENST00000421834.2_Missense_Mutation_p.I1456V|DST_ENST00000312431.6_Missense_Mutation_p.I1456V|DST_ENST00000370788.2_Missense_Mutation_p.I1456V|DST_ENST00000370754.5_Missense_Mutation_p.I1634V|DST_ENST00000446842.2_Missense_Mutation_p.I1130V			Q03001	DYST_HUMAN	dystonin	1456					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCTTGCTGATATTTGATACC	0.353																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4900-4902)Atc>Gtc		dystonin							193.0	172.0	178.0					6																	56479213		1831	4089	5920	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56479213T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4366A>G	6.37:g.56479213T>C	ENSP00000354508:p.Ile1456Val					DST_ENST00000244364.6_Missense_Mutation_p.I1130V|DST_ENST00000370769.4_Missense_Mutation_p.I1456V|DST_ENST00000312431.6_Missense_Mutation_p.I1456V|DST_ENST00000370788.2_Missense_Mutation_p.I1456V|DST_ENST00000421834.2_Missense_Mutation_p.I1456V|DST_ENST00000446842.2_Missense_Mutation_p.I1130V|DST_ENST00000361203.3_Missense_Mutation_p.I1456V	p.I1634V			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		36	4899	-	Lung NSC(77;0.103)		1456					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.4900A>G		.	.	.	.	.	.	.	.	.	.	T	13.28	2.189958	0.38707	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203	T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.88	4.74	0.60224	.	0.120779	0.36972	N	0.002303	T	0.04137	0.0115	L	0.28274	0.84	0.09310	N	0.999999	B;B;B;B;B;B	0.33103	0.0;0.397;0.11;0.207;0.0;0.003	B;B;B;B;B;B	0.34093	0.0;0.085;0.057;0.175;0.001;0.006	T	0.29088	-1.0023	9	0.12103	T	0.63	.	4.009	0.09615	0.0:0.2059:0.1976:0.5965	.	1456;1456;1634;1130;1456;1130	Q5TBT1;E7ERU2;E9PEB9;Q03001-9;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	V	1130;1634;1456;1456;1130;1456;1456;1456;1130	ENSP00000244364:I1130V;ENSP00000359790:I1634V;ENSP00000359805:I1456V;ENSP00000400883:I1456V;ENSP00000393645:I1130V;ENSP00000307959:I1456V;ENSP00000359824:I1456V;ENSP00000354508:I1456V;ENSP00000404924:I1130V	ENSP00000244364:I1130V	I	-	1	0	DST	56587172	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	1.744000	0.38268	2.250000	0.74265	0.528000	0.53228	ATC		0.353	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		23	57	0	0	0	1	0	23	57				
KMT2C	58508	broad.mit.edu	37	7	151860056	151860056	+	Missense_Mutation	SNP	G	G	A	rs375465800		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:151860056G>A	ENST00000262189.6	-	43	10824	c.10606C>T	c.(10606-10608)Cat>Tat	p.H3536Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H3536Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3536					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AGATTTCCATGTCCCTGCTTC	0.502																																						ENST00000355193.2																			0											c.(10606-10608)Cat>Tat		lysine (K)-specific methyltransferase 2C		G	TYR/HIS	1,4405	2.1+/-5.4	0,1,2202	76.0	80.0	79.0		10606	5.5	0.9	7		79	0,8600		0,0,4300	no	missense	MLL3	NM_170606.2	83	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	3536/4912	151860056	1,13005	2203	4300	6503	SO:0001583	missense	58508							g.chr7:151860056G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.10606C>T	7.37:g.151860056G>A	ENSP00000262189:p.His3536Tyr					KMT2C_ENST00000262189.6_Missense_Mutation_p.H3536Y	p.H3536Y							43	10824	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.10606C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.49|16.49	3.137701|3.137701	0.56936|0.56936	2.27E-4|2.27E-4	0.0|0.0	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.89270|.	-1.76;-1.77;-2.49|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.000000|.	0.47852|.	D|.	0.000214|.	T|T	0.73233|0.73233	0.3561|0.3561	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	P;D;D|.	0.58620|.	0.734;0.983;0.983|.	B;P;P|.	0.51453|.	0.197;0.67;0.67|.	T|T	0.70178|0.70178	-0.4943|-0.4943	10|5	0.48119|.	T|.	0.1|.	.|.	19.451|19.451	0.94867|0.94867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3536;2597;3536|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	Y|I	3536;3536;122|1041	ENSP00000262189:H3536Y;ENSP00000347325:H3536Y;ENSP00000410411:H122Y|.	ENSP00000262189:H3536Y|.	H|T	-|-	1|2	0|0	MLL3|MLL3	151490989|151490989	0.998000|0.998000	0.40836|0.40836	0.901000|0.901000	0.35422|0.35422	0.954000|0.954000	0.61252|0.61252	4.729000|4.729000	0.62008|0.62008	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	CAT|ACA		0.502	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			13	93	0	0	0	1	0	13	93				
IMPG1	3617	broad.mit.edu	37	6	76728458	76728458	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:76728458G>C	ENST00000369950.3	-	7	973	c.784C>G	c.(784-786)Cta>Gta	p.L262V	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTTCCTGCTAGCTCCTGGTAA	0.552																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(784-786)Cta>Gta		interphotoreceptor matrix proteoglycan 1							149.0	138.0	141.0					6																	76728458		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76728458G>C	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.784C>G	6.37:g.76728458G>C	ENSP00000358966:p.Leu262Val					IMPG1_ENST00000369963.3_3'UTR	p.L262V	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			7	973	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	262			SEA 1.			Missense_Mutation	SNP	ENST00000369950.3	37	c.784C>G	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184101	0.57800	.	.	ENSG00000112706	ENST00000369950	T	0.55760	0.5	6.17	2.42	0.29668	SEA (3);	0.257952	0.27155	N	0.020663	T	0.36663	0.0975	L	0.49778	1.585	0.80722	D	1	P	0.44195	0.828	P	0.50934	0.654	T	0.18398	-1.0338	10	0.39692	T	0.17	.	5.6684	0.17709	0.2279:0.3141:0.4581:0.0	.	262	Q17R60	IMPG1_HUMAN	V	262	ENSP00000358966:L262V	ENSP00000358966:L262V	L	-	1	2	IMPG1	76785178	0.989000	0.36119	0.777000	0.31699	0.985000	0.73830	0.841000	0.27613	0.161000	0.19458	0.655000	0.94253	CTA		0.552	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		10	144	0	0	0	1	0	10	144				
PPFIA2	8499	broad.mit.edu	37	12	81688719	81688719	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:81688719C>G	ENST00000549396.1	-	24	2980	c.2820G>C	c.(2818-2820)caG>caC	p.Q940H	PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q507H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q787H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q841H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q866H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q925H|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q940H|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q925H|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q157H	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	940	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAATTTCTCTCTGGATCTCAG	0.493																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2818-2820)caG>caC		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							116.0	113.0	114.0					12																	81688719		2086	4250	6336	SO:0001583	missense	8499							g.chr12:81688719C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2820G>C	12.37:g.81688719C>G	ENSP00000450337:p.Gln940His					PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q157H|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q841H|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q925H|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q866H|PPFIA2_ENST00000549396.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q507H|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q940H|PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q787H|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q925H|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q940H	p.Q940H	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			23	3115	-			866					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2820G>C	CCDS55857.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.83|19.83|19.83	3.900425|3.900425|3.900425	0.72754|0.72754|0.72754	.|.|.	.|.|.	ENSG00000139220|ENSG00000139220|ENSG00000139220	ENST00000551147|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	.|T;T;T;T;T;T;T;T;T|.	.|0.51071|.	.|0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72;0.72|.	5.62|5.62|5.62	4.5|4.5|4.5	0.54988|0.54988|0.54988	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.55273|0.55273|0.55273	0.1910|0.1910|0.1910	L|L|L	0.45581|0.45581|0.45581	1.43|1.43|1.43	0.58432|0.58432|0.58432	D|D|D	0.999997|0.999997|0.999997	.|D|.	.|0.69078|.	.|0.997|.	.|D|.	.|0.76575|.	.|0.988|.	T|T|T	0.51052|0.51052|0.51052	-0.8754|-0.8754|-0.8754	5|10|5	.|0.87932|.	.|D|.	.|0|.	-15.7527|-15.7527|-15.7527	7.819|7.819|7.819	0.29276|0.29276|0.29276	0.0:0.6869:0.0:0.3131|0.0:0.6869:0.0:0.3131|0.0:0.6869:0.0:0.3131	.|.|.	.|940|.	.|O75334|.	.|LIPA2_HUMAN|.	Q|H|T	106|940;925;507;157;866;951;925;940;841;940|74	.|ENSP00000450337:Q940H;ENSP00000450298:Q925H;ENSP00000438337:Q507H;ENSP00000445532:Q157H;ENSP00000385093:Q866H;ENSP00000327416:Q925H;ENSP00000449338:Q940H;ENSP00000388373:Q841H;ENSP00000447868:Q940H|.	.|ENSP00000327416:Q925H|.	E|Q|R	-|-|-	1|3|2	0|2|0	PPFIA2|PPFIA2|PPFIA2	80212850|80212850|80212850	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	2.202000|2.202000|2.202000	0.42743|0.42743|0.42743	1.046000|1.046000|1.046000	0.40249|0.40249|0.40249	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.493	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			11	46	0	0	0	1	0	11	46				
USP34	9736	broad.mit.edu	37	2	61546400	61546400	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:61546400C>G	ENST00000398571.2	-	22	3152	c.3076G>C	c.(3076-3078)Gat>Cat	p.D1026H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1026					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTGCATCATCATAACATTCA	0.308																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(3076-3078)Gat>Cat		ubiquitin specific peptidase 34							117.0	110.0	112.0					2																	61546400		1865	4085	5950	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61546400C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.3076G>C	2.37:g.61546400C>G	ENSP00000381577:p.Asp1026His						p.D1026H	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		22	3152	-			1026					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.3076G>C	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.839957	0.91117	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.04275	3.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00024	-1.2325	10	0.46703	T	0.11	.	19.9987	0.97401	0.0:1.0:0.0:0.0	.	1026	Q70CQ2	UBP34_HUMAN	H	874;874;1026	ENSP00000381577:D1026H	ENSP00000263989:D874H	D	-	1	0	USP34	61399904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.629000	0.83207	2.738000	0.93877	0.591000	0.81541	GAT		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			49	153	0	0	0	1	0	49	153				
ACTRT2	140625	broad.mit.edu	37	1	2939273	2939273	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:2939273C>A	ENST00000378404.2	+	1	1228	c.1023C>A	c.(1021-1023)acC>acA	p.T341T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	341						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGTTCTCCACCTGGATTGGAG	0.607																																						ENST00000378404.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1021-1023)acC>acA		actin-related protein T2							81.0	91.0	88.0					1																	2939273		2203	4300	6503	SO:0001819	synonymous_variant	140625					cytoplasm|cytoskeleton		g.chr1:2939273C>A	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.1023C>A	1.37:g.2939273C>A							p.T341T	NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	1228	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	341					B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	37	c.1023C>A	CCDS45.1	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750717	0.15778	.	.	ENSG00000169717	ENST00000543312	.	.	.	4.65	-5.03	0.02973	.	.	.	.	.	T	0.53481	0.1799	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60732	-0.7205	5	0.87932	D	0	.	3.489	0.07630	0.2405:0.4109:0.2493:0.0993	.	.	.	.	M	318	.	ENSP00000444281:L318M	L	+	1	2	ACTRT2	2929133	0.000000	0.05858	0.986000	0.45419	0.913000	0.54294	-3.768000	0.00371	-0.533000	0.06323	-1.083000	0.02208	CTG		0.607	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431		55	118	1	0	4.6707e-30	1	5.80098e-30	55	118				
BZRAP1	9256	broad.mit.edu	37	17	56388466	56388466	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:56388466C>T	ENST00000343736.4	-	19	3353	c.3190G>A	c.(3190-3192)Ggg>Agg	p.G1064R	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1004R|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G1064R			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1064	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCCGACTCCCCGTGGGGCGAC	0.692																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3190-3192)Ggg>Agg		benzodiazapine receptor (peripheral) associated protein 1							17.0	19.0	19.0					17																	56388466		2194	4294	6488	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56388466C>T	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3190G>A	17.37:g.56388466C>T	ENSP00000345824:p.Gly1064Arg					BZRAP1_ENST00000268893.6_Missense_Mutation_p.G1004R|BZRAP1_ENST00000343736.4_Missense_Mutation_p.G1064R	p.G1064R	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			19	4060	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1064			Fibronectin type-III 3.		O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.3190G>A	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.451951	0.43531	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.35236	1.32;1.32;1.32	5.88	5.88	0.94601	Fibronectin, type III (3);	0.000000	0.85682	D	0.000000	T	0.60919	0.2306	M	0.84846	2.72	0.53688	D	0.999971	D;P;P	0.67145	0.996;0.511;0.458	P;B;B	0.58721	0.844;0.132;0.107	T	0.66496	-0.5909	10	0.87932	D	0	.	16.2952	0.82767	0.0:0.868:0.132:0.0	.	1064;1004;1064	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	R	1064;1064;1004	ENSP00000347929:G1064R;ENSP00000345824:G1064R;ENSP00000268893:G1004R	ENSP00000268893:G1004R	G	-	1	0	BZRAP1	53743465	1.000000	0.71417	0.984000	0.44739	0.002000	0.02628	7.774000	0.85478	2.782000	0.95742	0.655000	0.94253	GGG		0.692	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		4	13	0	0	0	1	0	4	13				
GPR1	2825	broad.mit.edu	37	2	207041523	207041523	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:207041523G>T	ENST00000407325.2	-	3	811	c.449C>A	c.(448-450)aCc>aAc	p.T150N	GPR1_ENST00000437420.1_Missense_Mutation_p.T150N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	150					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		GTTCTTGAGGGTTCGATGCCG	0.458																																						ENST00000407325.2																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(448-450)aCc>aAc		G protein-coupled receptor 1							105.0	103.0	103.0					2																	207041523		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041523G>T		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.449C>A	2.37:g.207041523G>T	ENSP00000384345:p.Thr150Asn					GPR1_ENST00000437420.1_Missense_Mutation_p.T150N	p.T150N	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	811	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	150					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.449C>A	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065222	0.36470	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.84	5.84	0.93424	GPCR, rhodopsin-like superfamily (1);	0.055211	0.64402	D	0.000001	T	0.47229	0.1434	M	0.69823	2.125	0.47183	D	0.999345	P	0.34934	0.476	B	0.32393	0.145	T	0.48658	-0.9016	10	0.52906	T	0.07	.	20.157	0.98115	0.0:0.0:1.0:0.0	.	150	P46091	GPR1_HUMAN	N	150	ENSP00000384345:T150N;ENSP00000397535:T150N;ENSP00000414836:T150N;ENSP00000391146:T150N	ENSP00000384345:T150N	T	-	2	0	GPR1	206749768	1.000000	0.71417	0.724000	0.30704	0.799000	0.45148	5.259000	0.65485	2.768000	0.95171	0.650000	0.86243	ACC		0.458	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199		30	110	1	0	3.99451e-17	1	4.74178e-17	30	110				
TWISTNB	221830	broad.mit.edu	37	7	19748631	19748631	+	Silent	SNP	T	T	A	rs145791338	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:19748631T>A	ENST00000222567.5	-	1	79	c.9A>T	c.(7-9)gcA>gcT	p.A3A		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	3					transcription from RNA polymerase I promoter (GO:0006360)	DNA-directed RNA polymerase I complex (GO:0005736)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGAGCAACCTGCAGCCATGC	0.647											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000222567.5																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						c.(7-9)gcA>gcT		TWIST neighbor							18.0	21.0	20.0					7																	19748631		2187	4272	6459	SO:0001819	synonymous_variant	221830					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	g.chr7:19748631T>A	AK090846	CCDS34606.1	7p21.1	2010-08-05			ENSG00000105849	ENSG00000105849			18027	protein-coding gene	gene with protein product		608312				12438708	Standard	NM_001002926		Approved		uc003sup.1	Q3B726	OTTHUMG00000152497	ENST00000222567.5:c.9A>T	7.37:g.19748631T>A			OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735		p.A3A	NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN			1	79	-			3					A0PJ45|B7Z724	Silent	SNP	ENST00000222567.5	37	c.9A>T	CCDS34606.1																																																																																				0.647	TWISTNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326463.1			15	47	0	0	0	1	0	15	47				
PXDN	7837	broad.mit.edu	37	2	1653421	1653421	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:1653421G>C	ENST00000252804.4	-	17	2181	c.2131C>G	c.(2131-2133)Cca>Gca	p.P711A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	711					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGGTACTGTGGAGACACCAGG	0.592																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2131-2133)Cca>Gca		peroxidasin homolog (Drosophila)							59.0	62.0	61.0					2																	1653421		2112	4220	6332	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653421G>C	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2131C>G	2.37:g.1653421G>C	ENSP00000252804:p.Pro711Ala						p.P711A	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2181	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	711					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2131C>G	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929483	0.73327	.	.	ENSG00000130508	ENST00000252804	T	0.60299	0.2	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.73385	0.3580	M	0.64170	1.965	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.70310	-0.4907	10	0.37606	T	0.19	-43.5431	19.7328	0.96190	0.0:0.0:1.0:0.0	.	711	Q92626	PXDN_HUMAN	A	711	ENSP00000252804:P711A	ENSP00000252804:P711A	P	-	1	0	PXDN	1632428	1.000000	0.71417	0.971000	0.41717	0.944000	0.59088	9.717000	0.98755	2.661000	0.90470	0.558000	0.71614	CCA		0.592	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		12	86	0	0	0	1	0	12	86				
MMS19	64210	broad.mit.edu	37	10	99226647	99226647	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:99226647G>C	ENST00000438925.2	-	15	1644	c.1309C>G	c.(1309-1311)Ctg>Gtg	p.L437V	MMS19_ENST00000370782.2_Missense_Mutation_p.L437V|MMS19_ENST00000483626.1_5'Flank|MMS19_ENST00000327238.10_Missense_Mutation_p.L339V|MMS19_ENST00000327277.7_Missense_Mutation_p.L73V|MMS19_ENST00000355839.6_Missense_Mutation_p.L394V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	437					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AAGCCATTCAGAGGCCTTTGA	0.517								Direct reversal of damage																														ENST00000438925.2																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16						c.(1309-1311)Ctg>Gtg	Direct reversal of damage	MMS19 nucleotide excision repair homolog (S. cerevisiae)							84.0	84.0	84.0					10																	99226647		2203	4300	6503	SO:0001583	missense	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99226647G>C	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.1309C>G	10.37:g.99226647G>C	ENSP00000412698:p.Leu437Val					MMS19_ENST00000327238.10_Missense_Mutation_p.L339V|MMS19_ENST00000355839.6_Missense_Mutation_p.L394V|MMS19_ENST00000327277.7_Missense_Mutation_p.L73V|MMS19_ENST00000370782.2_Missense_Mutation_p.L437V	p.L437V	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	15	1644	-		Colorectal(252;0.0846)	437					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Missense_Mutation	SNP	ENST00000438925.2	37	c.1309C>G	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852298	0.51270	.	.	ENSG00000155229	ENST00000438925;ENST00000370782;ENST00000327238;ENST00000422291;ENST00000327277;ENST00000327253;ENST00000355839	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.99	3.11	0.35812	Armadillo-type fold (1);	0.211535	0.42420	D	0.000712	T	0.75474	0.3854	L	0.50333	1.59	0.38599	D	0.950622	P;D;D;P;P	0.65815	0.816;0.995;0.995;0.925;0.714	B;D;D;B;B	0.63877	0.194;0.919;0.919;0.395;0.138	T	0.74881	-0.3513	10	0.52906	T	0.07	.	8.8688	0.35303	0.1289:0.0:0.7482:0.1229	.	458;339;394;437;394	B4DQX2;Q96T76-5;F8W9Y2;Q96T76;B4E2I3	.;.;.;MMS19_HUMAN;.	V	437;437;339;416;73;22;394	ENSP00000412698:L437V;ENSP00000359818:L437V;ENSP00000320059:L339V;ENSP00000322236:L73V;ENSP00000348097:L394V	ENSP00000320059:L339V	L	-	1	2	MMS19	99216637	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.961000	0.40432	0.408000	0.25621	-0.137000	0.14449	CTG		0.517	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			12	72	0	0	0	1	0	12	72				
LAMA4	3910	broad.mit.edu	37	6	112471791	112471791	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:112471791C>T	ENST00000230538.7	-	17	2492	c.2095G>A	c.(2095-2097)Ggt>Agt	p.G699S	LAMA4_ENST00000522006.1_Missense_Mutation_p.G692S|LAMA4_ENST00000424408.2_Missense_Mutation_p.G692S|LAMA4_ENST00000389463.4_Missense_Mutation_p.G692S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	699	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGGGCTCCACCCACACGCCTG	0.493																																						ENST00000230538.7																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(2095-2097)Ggt>Agt		laminin, alpha 4							169.0	145.0	153.0					6																	112471791		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112471791C>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2095G>A	6.37:g.112471791C>T	ENSP00000230538:p.Gly699Ser					LAMA4_ENST00000424408.2_Missense_Mutation_p.G692S|LAMA4_ENST00000389463.4_Missense_Mutation_p.G692S|LAMA4_ENST00000522006.1_Missense_Mutation_p.G692S	p.G699S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	17	2492	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	699			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.2095G>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	6.481	0.457010	0.12283	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.12255	2.72;2.7;2.7;2.7	4.84	3.06	0.35304	.	0.453031	0.26871	N	0.022072	T	0.02610	0.0079	L	0.36672	1.1	0.09310	N	0.999997	B;B	0.06786	0.001;0.0	B;B	0.10450	0.002;0.005	T	0.45934	-0.9227	10	0.13470	T	0.59	.	6.2467	0.20823	0.0:0.6942:0.0:0.3058	.	699;692	Q16363;Q16363-2	LAMA4_HUMAN;.	S	699;692;692;692	ENSP00000230538:G699S;ENSP00000429488:G692S;ENSP00000374114:G692S;ENSP00000416470:G692S	ENSP00000230538:G699S	G	-	1	0	LAMA4	112578484	0.437000	0.25593	0.532000	0.27989	0.707000	0.40811	1.217000	0.32455	0.649000	0.30751	0.655000	0.94253	GGT		0.493	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		20	126	0	0	0	1	0	20	126				
ZNF721	170960	broad.mit.edu	37	4	435806	435806	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:435806G>A	ENST00000338977.5	-	2	2462	c.2414C>T	c.(2413-2415)gCg>gTg	p.A805V	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.A817V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	805					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTAGTAAACGCTTTACCACA	0.393																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(2413-2415)gCg>gTg		zinc finger protein 721							76.0	83.0	80.0					4																	435806		2092	4232	6324	SO:0001583	missense	170960							g.chr4:435806G>A	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2414C>T	4.37:g.435806G>A	ENSP00000340524:p.Ala805Val					ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.A817V|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron	p.A805V							2	2462	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2414C>T		.	.	.	.	.	.	.	.	.	.	G	6.678	0.493635	0.12702	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.36340	1.26;1.26	0.499	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44850	0.1313	L	0.45581	1.43	0.09310	N	1	B;D;D	0.71674	0.223;0.998;0.998	B;D;D	0.74674	0.075;0.984;0.972	T	0.20739	-1.0266	9	0.48119	T	0.1	.	4.258	0.10726	0.0:0.4408:0.5591:1.0E-4	.	805;817;817	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	V	805;817	ENSP00000340524:A805V;ENSP00000428878:A817V	ENSP00000340524:A805V	A	-	2	0	ZNF721	425806	0.000000	0.05858	0.005000	0.12908	0.030000	0.12068	-0.353000	0.07691	0.519000	0.28406	0.194000	0.17425	GCG		0.393	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		29	55	0	0	0	1	0	29	55				
RYR3	6263	broad.mit.edu	37	15	34015019	34015019	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:34015019G>T	ENST00000389232.4	+	44	6793	c.6723G>T	c.(6721-6723)ttG>ttT	p.L2241F	Y_RNA_ENST00000363138.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.L2241F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2241	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGGGCTCTTGGCAGCCATGC	0.572																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(6721-6723)ttG>ttT		ryanodine receptor 3							84.0	92.0	89.0					15																	34015019		1970	4134	6104	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34015019G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6723G>T	15.37:g.34015019G>T	ENSP00000373884:p.Leu2241Phe					RYR3_ENST00000415757.3_Missense_Mutation_p.L2241F	p.L2241F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	44	6793	+		all_lung(180;7.18e-09)	2241			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6723G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259210	0.39995	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.99311	-5.73;-5.73	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000005	D	0.99067	0.9680	L	0.59436	1.845	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98591	1.0654	10	0.33940	T	0.23	.	14.0056	0.64461	0.0:0.1512:0.8488:0.0	.	2241;2241	Q15413-2;Q15413	.;RYR3_HUMAN	F	2241	ENSP00000373884:L2241F;ENSP00000399610:L2241F	ENSP00000354735:L2241F	L	+	3	2	RYR3	31802311	1.000000	0.71417	0.977000	0.42913	0.140000	0.21249	3.126000	0.50477	2.553000	0.86117	0.555000	0.69702	TTG		0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			27	150	1	0	2.48779e-11	1	2.79177e-11	27	150				
GNL1	2794	broad.mit.edu	37	6	30521326	30521326	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:30521326A>G	ENST00000376621.3	-	6	1579	c.609T>C	c.(607-609)aaT>aaC	p.N203N		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	203	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGGCGGGAAATTCACAACCT	0.532																																						ENST00000376621.3																			0				cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(607-609)aaT>aaC		guanine nucleotide binding protein-like 1							69.0	72.0	71.0					6																	30521326		1510	2708	4218	SO:0001819	synonymous_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30521326A>G		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.609T>C	6.37:g.30521326A>G							p.N203N	NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN			6	1579	-			203					B0S838|Q96CT5	Silent	SNP	ENST00000376621.3	37	c.609T>C	CCDS4680.1																																																																																				0.532	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			7	78	0	0	0	1	0	7	78				
ABCG1	9619	broad.mit.edu	37	21	43714735	43714735	+	Silent	SNP	G	G	T	rs149806632		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:43714735G>T	ENST00000361802.2	+	14	1918	c.1773G>T	c.(1771-1773)acG>acT	p.T591T	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.T699T|ABCG1_ENST00000398457.2_Silent_p.T581T|ABCG1_ENST00000398437.1_Silent_p.T737T|ABCG1_ENST00000398449.3_Silent_p.T579T|ABCG1_ENST00000343687.3_Silent_p.T590T|ABCG1_ENST00000347800.2_Silent_p.T576T	NM_004915.3	NP_004906.3	P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	591	ABC transmembrane type-2.				amyloid precursor protein catabolic process (GO:0042987)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|detection of hormone stimulus (GO:0009720)|glycoprotein transport (GO:0034436)|high-density lipoprotein particle remodeling (GO:0034375)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of cholesterol efflux (GO:0010875)|regulation of cholesterol esterification (GO:0010872)|regulation of transcription, DNA-templated (GO:0006355)|response to high density lipoprotein particle (GO:0055099)|response to lipid (GO:0033993)|response to organic substance (GO:0010033)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|glycoprotein transporter activity (GO:0034437)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sterol-transporting ATPase activity (GO:0034041)|toxin transporter activity (GO:0019534)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCCCCACGTACCTACAGT	0.622																																						ENST00000398437.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29						c.(2209-2211)acG>acT		ATP-binding cassette, sub-family G (WHITE), member 1	Adenosine triphosphate(DB00171)						137.0	108.0	118.0					21																	43714735		2203	4300	6503	SO:0001819	synonymous_variant	9619				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	g.chr21:43714735G>T	U34919	CCDS13681.1, CCDS13682.1, CCDS13683.1, CCDS42937.1, CCDS42938.1	21q22.3	2012-03-14			ENSG00000160179	ENSG00000160179		"""ATP binding cassette transporters / subfamily G"""	73	protein-coding gene	gene with protein product	"""ATP-binding cassette transporter 8"""	603076				8659545, 16870176	Standard	NM_016818		Approved	ABC8	uc002zaq.3	P45844	OTTHUMG00000086791	ENST00000361802.2:c.1773G>T	21.37:g.43714735G>T						ABCG1_ENST00000361802.2_Silent_p.T591T|ABCG1_ENST00000347800.2_Silent_p.T576T|ABCG1_ENST00000340588.4_Silent_p.T699T|ABCG1_ENST00000343687.3_Silent_p.T590T|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.T579T|ABCG1_ENST00000398457.2_Silent_p.T581T	p.T737T			P45844	ABCG1_HUMAN			15	2359	+			591					Q86SU8|Q96L76|Q9BXK6|Q9BXK7|Q9BXK8|Q9BXK9|Q9BXL0|Q9BXL1|Q9BXL2|Q9BXL3|Q9BXL4	Silent	SNP	ENST00000361802.2	37	c.2211G>T	CCDS13682.1	.	.	.	.	.	.	.	.	.	.	G	8.601	0.886745	0.17540	.	.	ENSG00000160179	ENST00000489035;ENST00000469119	.	.	.	4.56	-9.12	0.00707	.	.	.	.	.	T	0.41994	0.1183	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48456	-0.9034	4	.	.	.	-9.2609	4.6689	0.12680	0.4333:0.3867:0.0854:0.0945	.	.	.	.	L	327;315	.	.	V	+	1	0	ABCG1	42587804	0.010000	0.17322	0.017000	0.16124	0.983000	0.72400	-0.314000	0.08092	-2.812000	0.00347	-0.424000	0.05967	GTA		0.622	ABCG1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195318.2	NM_207174		24	45	1	0	7.92952e-12	1	8.956e-12	24	45				
ORM2	5005	broad.mit.edu	37	9	117093137	117093137	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:117093137G>C	ENST00000431067.2	+	3	359	c.323G>C	c.(322-324)aGa>aCa	p.R108T	ORM2_ENST00000412657.1_3'UTR	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2	108					acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	ACCGTCTCCAGATACGGTGAG	0.567																																					NSCLC(65;867 1308 1814 2391 12508)	ENST00000431067.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						c.(322-324)aGa>aCa		orosomucoid 2							70.0	69.0	69.0					9																	117093137		2203	4300	6503	SO:0001583	missense	5005							g.chr9:117093137G>C		CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.323G>C	9.37:g.117093137G>C	ENSP00000394936:p.Arg108Thr					ORM2_ENST00000412657.1_3'UTR	p.R108T	NM_000608.2	NP_000599.1					3	359	+		Myeloproliferative disorder(63;0.163)						B2R5L2|Q16571|Q5T538|Q6IB74	Missense_Mutation	SNP	ENST00000431067.2	37	c.323G>C	CCDS6804.1	.	.	.	.	.	.	.	.	.	.	-	8.398	0.841192	0.16891	.	.	ENSG00000228278	ENST00000431067	T	0.12879	2.64	2.72	-5.06	0.02946	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.639246	0.15612	N	0.253310	T	0.05090	0.0136	N	0.14661	0.345	0.09310	N	1	B	0.29835	0.258	B	0.17722	0.019	T	0.18967	-1.0320	10	0.51188	T	0.08	-0.4749	5.4034	0.16308	0.3256:0.187:0.4874:0.0	.	108	P19652	A1AG2_HUMAN	T	108	ENSP00000394936:R108T	ENSP00000394936:R108T	R	+	2	0	ORM2	116132958	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.017000	0.01445	-1.025000	0.03334	-0.475000	0.04921	AGA		0.567	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055432.1	NM_000608		6	102	0	0	0	1	0	6	102				
ELF2	1998	broad.mit.edu	37	4	139993125	139993125	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:139993125T>A	ENST00000394235.2	-	6	887	c.385A>T	c.(385-387)Att>Ttt	p.I129F	ELF2_ENST00000379550.1_Missense_Mutation_p.I141F|ELF2_ENST00000379549.2_Missense_Mutation_p.I81F|ELF2_ENST00000358635.3_Missense_Mutation_p.I81F|ELF2_ENST00000265495.4_Missense_Mutation_p.I129F|ELF2_ENST00000510408.1_Missense_Mutation_p.I69F	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTTTCTGTAATGACATCTGGC	0.388																																						ENST00000394235.2																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19						c.(385-387)Att>Ttt		E74-like factor 2 (ets domain transcription factor)							134.0	130.0	131.0					4																	139993125		2203	4300	6503	SO:0001583	missense	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:139993125T>A	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.385A>T	4.37:g.139993125T>A	ENSP00000377782:p.Ile129Phe					ELF2_ENST00000510408.1_Missense_Mutation_p.I69F|ELF2_ENST00000379549.2_Missense_Mutation_p.I81F|ELF2_ENST00000358635.3_Missense_Mutation_p.I81F|ELF2_ENST00000379550.1_Missense_Mutation_p.I141F|ELF2_ENST00000265495.4_Missense_Mutation_p.I129F	p.I129F	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN			6	887	-	all_hematologic(180;0.162)		141						Missense_Mutation	SNP	ENST00000394235.2	37	c.385A>T	CCDS3744.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.393818	0.83011	.	.	ENSG00000109381	ENST00000358635;ENST00000394235;ENST00000379550;ENST00000265495;ENST00000379549;ENST00000510408;ENST00000420916;ENST00000512627	T;T;T;T;T;T;T;T	0.17528	2.44;2.79;2.67;2.79;2.7;2.51;2.27;2.33	5.87	5.87	0.94306	.	0.098619	0.64402	D	0.000001	T	0.27559	0.0677	L	0.27053	0.805	0.58432	D	0.999995	P;D;D;D;D	0.67145	0.879;0.996;0.964;0.988;0.994	B;D;P;P;P	0.64237	0.35;0.923;0.714;0.601;0.9	T	0.01670	-1.1299	9	.	.	.	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	69;129;81;69;81	B0KYV4;Q15723-1;E9PCX3;B7Z720;Q15723-3	.;.;.;.;.	F	81;129;141;129;81;69;81;69	ENSP00000351458:I81F;ENSP00000377782:I129F;ENSP00000368868:I141F;ENSP00000265495:I129F;ENSP00000368867:I81F;ENSP00000426997:I69F;ENSP00000397796:I81F;ENSP00000426087:I69F	.	I	-	1	0	ELF2	140212575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.151000	0.58105	2.371000	0.80710	0.533000	0.62120	ATT		0.388	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		7	144	0	0	0	1	0	7	144				
OLAH	55301	broad.mit.edu	37	10	15091659	15091659	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:15091659T>C	ENST00000378228.3	+	3	312	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	OLAH_ENST00000378217.3_Missense_Mutation_p.Y20H	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	20					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CAACTGCTTATACAAAAACCC	0.358																																						ENST00000378217.3																			0				endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						c.(58-60)Tac>Cac		oleoyl-ACP hydrolase							62.0	61.0	61.0					10																	15091659		2203	4300	6503	SO:0001583	missense	55301				fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity	g.chr10:15091659T>C	AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.58T>C	10.37:g.15091659T>C	ENSP00000367473:p.Tyr20His					OLAH_ENST00000378228.3_Missense_Mutation_p.Y20H	p.Y20H	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN			3	245	+			20					Q5VUB6|Q9NUW1	Missense_Mutation	SNP	ENST00000378228.3	37	c.58T>C	CCDS31152.1	.	.	.	.	.	.	.	.	.	.	t	14.42	2.529153	0.44969	.	.	ENSG00000152463	ENST00000428897;ENST00000413672;ENST00000429028;ENST00000378228;ENST00000378225;ENST00000378217	.	.	.	5.27	5.27	0.74061	.	0.387849	0.28510	N	0.015095	T	0.49372	0.1553	L	0.39085	1.19	0.24942	N	0.991843	B;D	0.76494	0.326;0.999	B;D	0.74023	0.079;0.982	T	0.38802	-0.9644	9	0.15952	T	0.53	-2.9958	11.586	0.50918	0.0:0.0:0.0:1.0	.	20;20	Q9NV23;Q9NV23-2	SAST_HUMAN;.	H	20;20;20;20;41;20	.	ENSP00000367462:Y20H	Y	+	1	0	OLAH	15131665	0.477000	0.25909	0.917000	0.36280	0.161000	0.22273	0.269000	0.18589	1.980000	0.57719	0.528000	0.53228	TAC		0.358	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046964.1	NM_018324		20	87	0	0	0	1	0	20	87				
BMP1	649	broad.mit.edu	37	8	22037292	22037292	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:22037292G>A	ENST00000306385.5	+	7	1581	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	BMP1_ENST00000397814.3_Missense_Mutation_p.R304Q|BMP1_ENST00000397816.3_Missense_Mutation_p.R304Q|BMP1_ENST00000306349.8_Missense_Mutation_p.R304Q|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	304	Metalloprotease.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAAGGACACGGCTCAGCAAG	0.587																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(910-912)cGg>cAg		bone morphogenetic protein 1							112.0	88.0	96.0					8																	22037292		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22037292G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.911G>A	8.37:g.22037292G>A	ENSP00000305714:p.Arg304Gln					BMP1_ENST00000397814.3_Missense_Mutation_p.R304Q|BMP1_ENST00000397816.3_Missense_Mutation_p.R304Q|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.R304Q	p.R304Q	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	7	1581	+			304			Metalloprotease.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.911G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289515	0.59976	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.67	5.67	0.87782	Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.34507	U	0.003911	T	0.42154	0.1190	N	0.21194	0.64	0.80722	D	1	P;P;P;P	0.51537	0.633;0.78;0.944;0.946	B;B;B;B	0.34873	0.067;0.059;0.191;0.132	T	0.40403	-0.9565	10	0.30078	T	0.28	.	12.6154	0.56573	0.0795:0.0:0.9205:0.0	.	304;377;304;304	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	Q	304	ENSP00000305714:R304Q;ENSP00000380917:R304Q;ENSP00000306121:R304Q;ENSP00000380915:R304Q	ENSP00000306121:R304Q	R	+	2	0	BMP1	22093237	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.967000	0.87967	2.666000	0.90696	0.561000	0.74099	CGG		0.587	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		23	27	0	0	0	1	0	23	27				
CD180	4064	broad.mit.edu	37	5	66492458	66492458	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:66492458G>A	ENST00000256447.4	-	1	169	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	4					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AGCAGCTGACGTCAAACGCCA	0.493																																						ENST00000256447.4																			0				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34						c.(10-12)gaC>gaT		CD180 molecule							154.0	156.0	155.0					5																	66492458		2203	4300	6503	SO:0001819	synonymous_variant	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66492458G>A	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.12C>T	5.37:g.66492458G>A							p.D4D	NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN		Lung(70;0.0046)	1	169	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	4					B2R7Z7|Q32MM5	Silent	SNP	ENST00000256447.4	37	c.12C>T	CCDS3992.1																																																																																				0.493	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		11	139	0	0	0	1	0	11	139				
USH2A	7399	broad.mit.edu	37	1	215901716	215901716	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:215901716C>T	ENST00000307340.3	-	61	12108	c.11722G>A	c.(11722-11724)Ggc>Agc	p.G3908S	USH2A_ENST00000366943.2_Missense_Mutation_p.G3908S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3908	Fibronectin type-III 24. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCAATGCCAGCAGGGCGT	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(11722-11724)Ggc>Agc		Usher syndrome 2A (autosomal recessive, mild)							45.0	45.0	45.0					1																	215901716		2202	4300	6502	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215901716C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11722G>A	1.37:g.215901716C>T	ENSP00000305941:p.Gly3908Ser	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.G3908S	p.G3908S			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	61	12108	-			3908			Fibronectin type-III 24.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11722G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.086820	0.55861	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.54071	0.59;0.59	5.52	4.61	0.57282	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.307290	0.23053	N	0.052465	T	0.43500	0.1250	L	0.37697	1.125	0.39989	D	0.975013	B	0.30851	0.297	B	0.29440	0.102	T	0.36138	-0.9760	10	0.36615	T	0.2	.	14.361	0.66771	0.0:0.9289:0.0:0.0711	.	3908	O75445	USH2A_HUMAN	S	3908	ENSP00000305941:G3908S;ENSP00000355910:G3908S	ENSP00000305941:G3908S	G	-	1	0	USH2A	213968339	1.000000	0.71417	0.971000	0.41717	0.843000	0.47879	4.681000	0.61663	1.324000	0.45282	0.585000	0.79938	GGC		0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		22	40	0	0	0	1	0	22	40				
NOL4	8715	broad.mit.edu	37	18	31673444	31673444	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:31673444G>C	ENST00000261592.5	-	5	1054	c.757C>G	c.(757-759)Cat>Gat	p.H253D	NOL4_ENST00000269185.4_Missense_Mutation_p.H139D|NOL4_ENST00000589544.1_Missense_Mutation_p.H253D|NOL4_ENST00000535475.1_Missense_Mutation_p.H98D|NOL4_ENST00000538587.1_Missense_Mutation_p.H179D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	253						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGCTGGCCATGAAGATTCTGG	0.383																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(757-759)Cat>Gat		nucleolar protein 4							142.0	138.0	139.0					18																	31673444		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31673444G>C	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.757C>G	18.37:g.31673444G>C	ENSP00000261592:p.His253Asp					NOL4_ENST00000589544.1_Missense_Mutation_p.H253D|NOL4_ENST00000538587.1_Missense_Mutation_p.H179D|NOL4_ENST00000535475.1_Missense_Mutation_p.H98D|NOL4_ENST00000269185.4_Missense_Mutation_p.H139D	p.H253D	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			5	1054	-			253					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.757C>G	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640269	0.47153	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000535475;ENST00000538587	.	.	.	5.6	5.6	0.85130	.	0.434021	0.21777	N	0.069279	T	0.53626	0.1808	L	0.38175	1.15	0.34544	D	0.710557	B;B;B;B;B	0.32010	0.351;0.039;0.019;0.002;0.007	B;B;B;B;B	0.34824	0.19;0.014;0.022;0.004;0.004	T	0.64542	-0.6383	9	0.54805	T	0.06	-3.4574	18.5968	0.91231	0.0:0.0:1.0:0.0	.	139;179;253;253;98	B4DLW2;B4DSQ0;O94818;O94818-2;B3KRF4	.;.;NOL4_HUMAN;.;.	D	253;139;98;179	.	ENSP00000261592:H253D	H	-	1	0	NOL4	29927442	1.000000	0.71417	0.956000	0.39512	0.975000	0.68041	7.477000	0.81069	2.640000	0.89533	0.491000	0.48974	CAT		0.383	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		39	108	0	0	0	1	0	39	108				
SLC16A13	201232	broad.mit.edu	37	17	6941599	6941599	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:6941599T>C	ENST00000308027.6	+	3	780	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	158						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.F158L(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTGCCCCCTTTTTCCAGTG	0.652																																						ENST00000308027.6																			1	Substitution - Missense(1)	p.F158L(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						c.(472-474)Ttt>Ctt		solute carrier family 16, member 13							62.0	66.0	64.0					17																	6941599		2203	4300	6503	SO:0001583	missense	201232					integral to membrane|plasma membrane	symporter activity	g.chr17:6941599T>C	BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.472T>C	17.37:g.6941599T>C	ENSP00000309751:p.Phe158Leu						p.F158L	NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN			3	780	+			158					A3KMG3|A5PKU5|Q2VP92	Missense_Mutation	SNP	ENST00000308027.6	37	c.472T>C	CCDS11085.1	.	.	.	.	.	.	.	.	.	.	T	4.647	0.120233	0.08881	.	.	ENSG00000174327	ENST00000308027	T	0.48522	0.81	5.54	-1.46	0.08800	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192516	0.46442	N	0.000288	T	0.13713	0.0332	N	0.01202	-0.96	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.38001	-0.9681	10	0.02654	T	1	.	10.4076	0.44274	0.0:0.5248:0.0:0.4752	.	158	Q7RTY0	MOT13_HUMAN	L	158	ENSP00000309751:F158L	ENSP00000309751:F158L	F	+	1	0	SLC16A13	6882323	0.479000	0.25925	0.535000	0.28026	0.981000	0.71138	1.161000	0.31773	-0.053000	0.13289	-0.313000	0.08912	TTT		0.652	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219923.2			4	100	0	0	0	1	0	4	100				
FAAH2	158584	broad.mit.edu	37	X	57337084	57337084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337084G>T	ENST00000374900.4	+	3	454	c.334G>T	c.(334-336)Gaa>Taa	p.E112*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	112						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGAGAAGCAGGAAGATGAAGC	0.413										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(334-336)Gaa>Taa		fatty acid amide hydrolase 2							87.0	75.0	79.0					X																	57337084		2203	4300	6503	SO:0001587	stop_gained	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337084G>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.334G>T	X.37:g.57337084G>T	ENSP00000364035:p.Glu112*	HNSCC(52;0.14)					p.E112*	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			3	454	+			112					Q86VT2|Q96N98	Nonsense_Mutation	SNP	ENST00000374900.4	37	c.334G>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.633906	0.87660	.	.	ENSG00000165591	ENST00000374900	.	.	.	2.34	2.34	0.29019	.	0.161857	0.40469	U	0.001086	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	8.0339	0.30480	0.0:0.0:1.0:0.0	.	.	.	.	X	112	.	ENSP00000364035:E112X	E	+	1	0	FAAH2	57353809	0.980000	0.34600	0.780000	0.31762	0.755000	0.42902	2.641000	0.46587	0.894000	0.36317	0.415000	0.27848	GAA		0.413	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		20	24	1	0	0.00152264	1	0.00157686	20	24				
SLC4A4	8671	broad.mit.edu	37	4	72319325	72319325	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:72319325C>T	ENST00000264485.5	+	12	1553	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V	SLC4A4_ENST00000512686.1_Missense_Mutation_p.A435V|SLC4A4_ENST00000340595.3_Missense_Mutation_p.A435V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A479V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A479V|SLC4A4_ENST00000514331.1_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	479					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATTTATCTGGCAACTGTAACT	0.403																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1303-1305)gCa>gTa		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							199.0	195.0	196.0					4																	72319325		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72319325C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1436C>T	4.37:g.72319325C>T	ENSP00000264485:p.Ala479Val					SLC4A4_ENST00000264485.5_Missense_Mutation_p.A479V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A479V|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A435V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A479V|SLC4A4_ENST00000514331.1_3'UTR	p.A435V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		9	1500	+			479					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1304C>T	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975427	0.74360	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	6.03	5.14	0.70334	Bicarbonate transporter, C-terminal (1);	0.097389	0.64402	D	0.000001	D	0.87200	0.6118	M	0.73372	2.23	0.54753	D	0.99998	P;P;B;P;B;B	0.41450	0.654;0.537;0.373;0.75;0.422;0.17	P;B;B;P;P;B	0.50162	0.531;0.155;0.396;0.633;0.517;0.403	D	0.88191	0.2877	10	0.87932	D	0	.	15.2824	0.73797	0.0:0.7449:0.2551:0.0	.	479;479;435;435;459;479	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	V	479;479;479;435;435	ENSP00000264485:A479V;ENSP00000393557:A479V;ENSP00000307349:A479V;ENSP00000422400:A435V;ENSP00000344272:A435V	ENSP00000264485:A479V	A	+	2	0	SLC4A4	72538189	0.996000	0.38824	1.000000	0.80357	0.920000	0.55202	2.810000	0.47979	2.861000	0.98227	0.655000	0.94253	GCA		0.403	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		43	197	0	0	0	1	0	43	197				
DCHS2	54798	broad.mit.edu	37	4	155157458	155157458	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157458C>A	ENST00000357232.4	-	25	6980	c.6981G>T	c.(6979-6981)ctG>ctT	p.L2327L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2327	Cadherin 21. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGAAATAGGCAGATTTTCTG	0.398																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6979-6981)ctG>ctT		dachsous cadherin-related 2							102.0	96.0	98.0					4																	155157458		2203	4300	6503	SO:0001819	synonymous_variant	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157458C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6981G>T	4.37:g.155157458C>A							p.L2327L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6980	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2327			Cadherin 21.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	c.6981G>T	CCDS3785.1																																																																																				0.398	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		38	89	1	0	6.19805e-25	1	7.61662e-25	38	89				
DSEL	92126	broad.mit.edu	37	18	65180625	65180625	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:65180625T>C	ENST00000310045.7	-	2	2724	c.1251A>G	c.(1249-1251)gcA>gcG	p.A417A	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	407					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGTGTATTTTTGCAGTACCAT	0.478																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(1249-1251)gcA>gcG		dermatan sulfate epimerase-like							91.0	73.0	79.0					18																	65180625		2203	4300	6503	SO:0001819	synonymous_variant	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65180625T>C	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1251A>G	18.37:g.65180625T>C						CTD-2541J13.2_ENST00000583493.1_RNA	p.A417A	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN			2	2724	-		Esophageal squamous(42;0.129)	407					Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	c.1251A>G	CCDS11995.1																																																																																				0.478	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		21	54	0	0	0	1	0	21	54				
WSCD2	9671	broad.mit.edu	37	12	108589888	108589888	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:108589888C>T	ENST00000332082.4	+	3	1097	c.279C>T	c.(277-279)ttC>ttT	p.F93F	WSCD2_ENST00000549903.1_Silent_p.F93F|WSCD2_ENST00000547525.1_Silent_p.F93F|WSCD2_ENST00000261400.3_Silent_p.F93F			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	93						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						GACCCTGGTTCAAGGGCAAGG	0.602																																						ENST00000332082.4																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						c.(277-279)ttC>ttT		WSC domain containing 2							96.0	97.0	96.0					12																	108589888		2042	4188	6230	SO:0001819	synonymous_variant	9671					integral to membrane		g.chr12:108589888C>T		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.279C>T	12.37:g.108589888C>T						WSCD2_ENST00000549903.1_Silent_p.F93F|WSCD2_ENST00000261400.3_Silent_p.F93F|WSCD2_ENST00000547525.1_Silent_p.F93F	p.F93F			Q2TBF2	WSCD2_HUMAN			3	1097	+			93					B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	ENST00000332082.4	37	c.279C>T	CCDS41828.1																																																																																				0.602	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		38	102	0	0	0	1	0	38	102				
GH2	2689	broad.mit.edu	37	17	61957720	61957720	+	Missense_Mutation	SNP	G	G	C	rs200049108		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:61957720G>C	ENST00000423893.2	-	5	676	c.615C>G	c.(613-615)atC>atG	p.I205M	GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000449787.2_Missense_Mutation_p.I190M|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	205					JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGCACTGCACGATGCGCAGGA	0.587													g|||	1	0.000199681	0.0	0.0	5008	,	,		19696	0.0		0.0	False		,,,				2504	0.001					ENST00000423893.2																			0				breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						c.(613-615)atC>atG		growth hormone 2							122.0	100.0	107.0					17																	61957720		2202	4281	6483	SO:0001583	missense	2689					extracellular region	hormone activity	g.chr17:61957720G>C	J03756	CCDS11647.1, CCDS11648.1, CCDS45757.1, CCDS45758.1	17q22-q24	2014-01-30						"""Endogenous ligands"""	4262	protein-coding gene	gene with protein product	"""placental-specific growth hormone"", ""placenta-specific growth hormone"""	139240				6306568	Standard	NM_002059		Approved	GH-V, GHV, GHL, hGH-V	uc002jcl.2	P01242		ENST00000423893.2:c.615C>G	17.37:g.61957720G>C	ENSP00000409294:p.Ile205Met					GH2_ENST00000332800.7_3'UTR|GH2_ENST00000456543.2_Missense_Mutation_p.S204W|GH2_ENST00000449787.2_Missense_Mutation_p.I190M	p.I205M			P01242	SOM2_HUMAN			5	676	-			205					B1A4H5|B1A4H7|O14643|O14644|P09587	Missense_Mutation	SNP	ENST00000423893.2	37	c.615C>G	CCDS11647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.908|0.908	-0.719962|-0.719962	0.03182|0.03182	.|.	.|.	ENSG00000136487|ENSG00000136487	ENST00000423893;ENST00000449787|ENST00000456543	D;D|D	0.90133|0.88818	-2.62;-2.62|-2.43	2.74|2.74	-2.6|-2.6	0.06190|0.06190	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);|.	.|.	.|.	.|.	.|.	T|T	0.79240|0.79240	0.4412|0.4412	L|L	0.31526|0.31526	0.94|0.94	0.80722|0.80722	D|D	1|1	B;B|B	0.06786|0.14438	0.001;0.001|0.01	B;B|B	0.20767|0.12837	0.031;0.011|0.008	T|T	0.60209|0.60209	-0.7308|-0.7308	9|9	0.40728|0.87932	T|D	0.16|0	.|.	6.5187|6.5187	0.22262|0.22262	0.1893:0.4088:0.402:0.0|0.1893:0.4088:0.402:0.0	.|.	205;190|204	P01242;O14643|O14644	SOM2_HUMAN;.|.	M|W	205;190|204	ENSP00000409294:I205M;ENSP00000410618:I190M|ENSP00000394122:S204W	ENSP00000409294:I205M|ENSP00000394122:S204W	I|S	-|-	3|2	3|0	GH2|GH2	59311452|59311452	0.999000|0.999000	0.42202|0.42202	0.964000|0.964000	0.40570|0.40570	0.021000|0.021000	0.10359|0.10359	0.318000|0.318000	0.19504|0.19504	-0.723000|-0.723000	0.04915|0.04915	-3.851000|-3.851000	0.00018|0.00018	ATC|TCG		0.587	GH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417665.1	NM_002059		29	82	0	0	0	1	0	29	82				
CHRNA4	1137	broad.mit.edu	37	20	61978159	61978159	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:61978159C>G	ENST00000370263.4	-	6	2036	c.1815G>C	c.(1813-1815)atG>atC	p.M605I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	605					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	CGATGATGAACATCCAGAGGA	0.662																																						ENST00000370263.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33						c.(1813-1815)atG>atC		cholinergic receptor, nicotinic, alpha 4 (neuronal)	Nicotine(DB00184)|Varenicline(DB01273)						125.0	80.0	95.0					20																	61978159		2202	4299	6501	SO:0001583	missense	1137				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr20:61978159C>G		CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.1815G>C	20.37:g.61978159C>G	ENSP00000359285:p.Met605Ile					CHRNA4_ENST00000463705.1_5'UTR	p.M605I	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN			6	2036	-	all_cancers(38;1.71e-10)		605					Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	ENST00000370263.4	37	c.1815G>C	CCDS13517.1	.	.	.	.	.	.	.	.	.	.	C	8.450	0.852910	0.17106	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	T	0.66099	-0.19	4.41	4.41	0.53225	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.271340	0.47093	D	0.000251	T	0.47637	0.1456	N	0.12831	0.26	0.80722	D	1	B;B	0.23128	0.015;0.08	B;B	0.31245	0.028;0.126	T	0.39941	-0.9589	10	0.21014	T	0.42	.	17.3382	0.87288	0.0:1.0:0.0:0.0	.	534;605	Q4VAQ5;P43681	.;ACHA4_HUMAN	I	511;605;534	ENSP00000359285:M605I	ENSP00000359280:M511I	M	-	3	0	CHRNA4	61448603	1.000000	0.71417	0.998000	0.56505	0.848000	0.48234	3.125000	0.50469	2.168000	0.68352	0.498000	0.49722	ATG		0.662	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080508.3			18	61	0	0	0	1	0	18	61				
RIF1	55183	broad.mit.edu	37	2	152321641	152321641	+	Silent	SNP	G	G	A	rs536244464	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:152321641G>A	ENST00000243326.5	+	29	6090	c.5607G>A	c.(5605-5607)tcG>tcA	p.S1869S	RIF1_ENST00000430328.2_Silent_p.S1869S|RIF1_ENST00000444746.2_Silent_p.S1869S|RIF1_ENST00000453091.2_Silent_p.S1869S|RIF1_ENST00000428287.2_Silent_p.S1869S			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAGGAGACTCGAAAAATGTTT	0.373																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5605-5607)tcG>tcA		RAP1 interacting factor homolog (yeast)							54.0	60.0	58.0					2																	152321641		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321641G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.5607G>A	2.37:g.152321641G>A						RIF1_ENST00000453091.2_Silent_p.S1869S|RIF1_ENST00000428287.2_Silent_p.S1869S|RIF1_ENST00000444746.2_Silent_p.S1869S|RIF1_ENST00000430328.2_Silent_p.S1869S	p.S1869S			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6090	+			1869					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.5607G>A	CCDS2194.1																																																																																				0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			32	82	0	0	0	1	0	32	82				
G6PD	2539	broad.mit.edu	37	X	153760789	153760789	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:153760789C>G	ENST00000393564.2	-	10	1392	c.1280G>C	c.(1279-1281)aGa>aCa	p.R427T	G6PD_ENST00000369620.2_Missense_Mutation_p.R473T|G6PD_ENST00000393562.2_Missense_Mutation_p.R457T|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	427					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTTGTATCTGTTGCCGTA	0.612																																						ENST00000393562.2																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18						c.(1369-1371)aGa>aCa		glucose-6-phosphate dehydrogenase							128.0	112.0	117.0					X																	153760789		2203	4300	6503	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760789C>G	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1280G>C	X.37:g.153760789C>G	ENSP00000377194:p.Arg427Thr					G6PD_ENST00000369620.2_Missense_Mutation_p.R473T|G6PD_ENST00000393564.2_Missense_Mutation_p.R427T	p.R457T	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN			10	1753	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		427					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.1370G>C	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032939	0.75504	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99822	-6.94;-6.94;-6.94	5.82	4.95	0.65309	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99725	0.9893	M	0.76002	2.32	0.80722	D	1	D;D	0.61080	0.984;0.989	D;D	0.68039	0.955;0.937	D	0.97198	0.9862	10	0.87932	D	0	.	13.5909	0.61959	0.0:0.8474:0.1526:0.0	.	427;457	P11413;P11413-3	G6PD_HUMAN;.	T	457;427;427;473	ENSP00000377192:R457T;ENSP00000377194:R427T;ENSP00000358633:R473T	ENSP00000291567:R427T	R	-	2	0	G6PD	153413983	1.000000	0.71417	0.986000	0.45419	0.903000	0.53119	7.300000	0.78841	1.210000	0.43336	-0.223000	0.12442	AGA		0.612	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402		86	86	0	0	0	1	0	86	86				
PARD6G	84552	broad.mit.edu	37	18	77918076	77918076	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr18:77918076T>C	ENST00000353265.3	-	3	906	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	237	Interaction with PARD3 and CDC42. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		CTGTTGGCGATCATCATGTCC	0.667																																						ENST00000353265.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(709-711)Atc>Gtc		par-6 family cell polarity regulator gamma							96.0	68.0	78.0					18																	77918076		2203	4300	6503	SO:0001583	missense	84552				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding	g.chr18:77918076T>C		CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.709A>G	18.37:g.77918076T>C	ENSP00000343144:p.Ile237Val					AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron	p.I237V	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)	3	906	-		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)	237			Interaction with PARD3 and CDC42 (By similarity).|PDZ.		A8QM57	Missense_Mutation	SNP	ENST00000353265.3	37	c.709A>G	CCDS12022.1	.	.	.	.	.	.	.	.	.	.	T	7.849	0.723656	0.15439	.	.	ENSG00000178184	ENST00000353265	T	0.25579	1.79	4.67	4.67	0.58626	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	N	0.02876	-0.465	0.80722	D	1	B	0.06786	0.001	B	0.19666	0.026	T	0.15492	-1.0435	9	.	.	.	-49.0721	13.2161	0.59861	0.0:0.0:0.0:1.0	.	237	Q9BYG4	PAR6G_HUMAN	V	237	ENSP00000343144:I237V	.	I	-	1	0	PARD6G	76019067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.728000	0.74769	1.960000	0.56953	0.460000	0.39030	ATC		0.667	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256435.2	NM_032510		25	45	0	0	0	1	0	25	45				
TPRX1	284355	broad.mit.edu	37	19	48305074	48305074	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:48305074C>T	ENST00000322175.3	-	2	1349	c.1194G>A	c.(1192-1194)gtG>gtA	p.V398V	TPRX1_ENST00000535759.1_Silent_p.V495V|TPRX1_ENST00000543508.1_Silent_p.V388V	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	398						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GATTTTCATTCACAGAGCCAC	0.522																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1483-1485)gtG>gtA		tetra-peptide repeat homeobox 1							79.0	82.0	81.0					19																	48305074		2203	4300	6503	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305074C>T		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1194G>A	19.37:g.48305074C>T						TPRX1_ENST00000543508.1_Silent_p.V388V|TPRX1_ENST00000322175.3_Silent_p.V398V	p.V495V			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1484	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	398					A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.1485G>A	CCDS33066.1																																																																																				0.522	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		37	109	0	0	0	1	0	37	109				
CHRD	8646	broad.mit.edu	37	3	184105822	184105822	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:184105822G>C	ENST00000204604.1	+	20	2800		c.e20+1		CHRD_ENST00000450923.1_Splice_Site|CHRD_ENST00000348986.3_Splice_Site|CHRD_ENST00000545352.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin						BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGTGTCCAGGTGAGAGAGGT	0.592																																						ENST00000204604.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e20+1		chordin							36.0	31.0	33.0					3																	184105822		2203	4300	6503	SO:0001630	splice_region_variant	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184105822G>C	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2554+1G>C	3.37:g.184105822G>C						CHRD_ENST00000545352.1_Splice_Site|CHRD_ENST00000450923.1_Splice_Site|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Splice_Site		NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		20	2800	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)							O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Splice_Site	SNP	ENST00000204604.1	37		CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204735	0.58234	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000545352	.	.	.	4.73	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2662	0.82581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CHRD	185588516	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	4.937000	0.63513	2.178000	0.69098	0.557000	0.71058	.		0.592	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	Intron	5	18	0	0	0	1	0	5	18				
VPS13C	54832	broad.mit.edu	37	15	62165562	62165562	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:62165562T>C	ENST00000261517.5	-	78	10534	c.10461A>G	c.(10459-10461)aaA>aaG	p.K3487K	VPS13C_ENST00000558919.1_5'Flank|VPS13C_ENST00000395896.4_Silent_p.K3487K|VPS13C_ENST00000395898.3_Silent_p.K3444K|VPS13C_ENST00000249837.3_Silent_p.K3444K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCCAAACCTTTCCCAACAG	0.438																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(10459-10461)aaA>aaG		vacuolar protein sorting 13 homolog C (S. cerevisiae)							196.0	190.0	192.0					15																	62165562		2203	4300	6503	SO:0001819	synonymous_variant	54832				protein localization			g.chr15:62165562T>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.10461A>G	15.37:g.62165562T>C						VPS13C_ENST00000395898.3_Silent_p.K3444K|VPS13C_ENST00000395896.4_Silent_p.K3487K|VPS13C_ENST00000249837.3_Silent_p.K3444K	p.K3487K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			78	10534	-			3487						Silent	SNP	ENST00000261517.5	37	c.10461A>G	CCDS32257.1																																																																																				0.438	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		53	131	0	0	0	1	0	53	131				
ARPIN	348110	broad.mit.edu	37	15	90447129	90447129	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:90447129C>T	ENST00000357484.5	-	4	508	c.388G>A	c.(388-390)Gag>Aag	p.E130K	C15orf38-AP3S2_ENST00000560224.1_5'Flank|C15orf38_ENST00000460685.1_Missense_Mutation_p.E34K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E130K	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1	Q7Z6K5	ARPIN_HUMAN		130					directional locomotion (GO:0033058)|negative regulation of actin nucleation (GO:0051126)|negative regulation of cell migration (GO:0030336)|negative regulation of lamellipodium morphogenesis (GO:2000393)	lamellipodium (GO:0030027)				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			GTGAGGCTCTCTGTCAGCGCG	0.647																																						ENST00000357484.5																			0				breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(388-390)Gag>Aag		chromosome 15 open reading frame 38							60.0	68.0	65.0					15																	90447129		2139	4242	6381	SO:0001583	missense	348110							g.chr15:90447129C>T																												ENST00000357484.5:c.388G>A	15.37:g.90447129C>T	ENSP00000350075:p.Glu130Lys					C15orf38_ENST00000460685.1_Missense_Mutation_p.E34K|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E130K	p.E130K	NM_182616.2	NP_872422.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		4	508	-	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)							E2QRD5	Missense_Mutation	SNP	ENST00000357484.5	37	c.388G>A	CCDS42080.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472126	0.26423	.	.	ENSG00000250021;ENSG00000242498	ENST00000398333;ENST00000357484	T	0.43294	0.95	5.35	3.39	0.38822	.	.	.	.	.	T	0.29223	0.0727	N	0.25647	0.755	0.09310	N	1	B;B	0.16166	0.016;0.005	B;B	0.16289	0.015;0.008	T	0.17501	-1.0367	9	0.48119	T	0.1	-5.6796	8.1032	0.30870	0.0:0.7482:0.1632:0.0886	.	130;130	Q7Z6K5;E2QRD5	CO038_HUMAN;.	K	130	ENSP00000381377:E130K	ENSP00000381377:E130K	E	-	1	0	C15orf38-AP3S2;C15orf38	88248133	0.007000	0.16637	0.470000	0.27216	0.219000	0.24729	1.223000	0.32527	1.179000	0.42884	0.579000	0.79373	GAG		0.647	C15orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335629.1			18	75	0	0	0	1	0	18	75				
TRERF1	55809	broad.mit.edu	37	6	42225914	42225914	+	Silent	SNP	C	C	A	rs373180822		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:42225914C>A	ENST00000372922.4	-	10	2857	c.2295G>T	c.(2293-2295)acG>acT	p.T765T	TRERF1_ENST00000354325.2_Silent_p.T682T|TRERF1_ENST00000340840.2_Silent_p.T682T|TRERF1_ENST00000372917.4_Silent_p.T682T|TRERF1_ENST00000541110.1_Silent_p.T785T	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	765	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGGGTGACCGTCACGTTGC	0.433																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2353-2355)acG>acT		transcriptional regulating factor 1							110.0	100.0	104.0					6																	42225914		2203	4300	6503	SO:0001819	synonymous_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42225914C>A	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2295G>T	6.37:g.42225914C>A						TRERF1_ENST00000340840.2_Silent_p.T682T|TRERF1_ENST00000354325.2_Silent_p.T682T|TRERF1_ENST00000372917.4_Silent_p.T682T|TRERF1_ENST00000372922.4_Silent_p.T765T	p.T785T			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		10	2923	-	Colorectal(47;0.196)		765			ELM2.|Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Silent	SNP	ENST00000372922.4	37	c.2355G>T	CCDS4867.1																																																																																				0.433	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		6	57	1	0	0.00198382	1	0.00204234	6	57				
SPATA16	83893	broad.mit.edu	37	3	172631466	172631466	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:172631466C>G	ENST00000351008.3	-	10	1755	c.1572G>C	c.(1570-1572)tgG>tgC	p.W524C		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	524					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GGATCATATTCCACACACGTT	0.373																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(1570-1572)tgG>tgC		spermatogenesis associated 16							125.0	114.0	118.0					3																	172631466		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172631466C>G	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1572G>C	3.37:g.172631466C>G	ENSP00000341765:p.Trp524Cys						p.W524C	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		10	1755	-	Ovarian(172;0.00319)|Breast(254;0.197)		524					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.1572G>C	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892296	0.52014	.	.	ENSG00000144962	ENST00000351008	T	0.27557	1.66	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000010	T	0.46964	0.1420	L	0.32530	0.975	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.45483	-0.9258	10	0.87932	D	0	-5.8759	17.5319	0.87817	0.0:1.0:0.0:0.0	.	524	Q9BXB7	SPT16_HUMAN	C	524	ENSP00000341765:W524C	ENSP00000341765:W524C	W	-	3	0	SPATA16	174114160	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.860000	0.69546	2.571000	0.86741	0.650000	0.86243	TGG		0.373	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		19	128	0	0	0	1	0	19	128				
SPTA1	6708	broad.mit.edu	37	1	158636108	158636108	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158636108G>T	ENST00000368147.4	-	16	2398	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	740					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAACAAACCTGACGAGCAGCC	0.463																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(2218-2220)Cag>Aag		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							29.0	34.0	32.0					1																	158636108		1950	4150	6100	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158636108G>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2218C>A	1.37:g.158636108G>T	ENSP00000357129:p.Gln740Lys					SPTA1_ENST00000368147.3_Missense_Mutation_p.Q740K	p.Q740K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			16	2398	-	all_hematologic(112;0.0378)		740					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2218C>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	17.26	3.343496	0.61073	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51071	0.72;0.72	4.55	4.55	0.56014	.	0.000000	0.30809	N	0.008838	T	0.28732	0.0712	L	0.39085	1.19	0.49299	D	0.999779	B	0.33379	0.41	B	0.37091	0.241	T	0.11941	-1.0567	10	0.33141	T	0.24	.	16.0609	0.80838	0.0:0.0:1.0:0.0	.	740	P02549	SPTA1_HUMAN	K	740	ENSP00000357130:Q740K;ENSP00000357129:Q740K	ENSP00000357129:Q740K	Q	-	1	0	SPTA1	156902732	1.000000	0.71417	0.944000	0.38274	0.137000	0.21094	8.354000	0.90080	2.348000	0.79779	0.650000	0.86243	CAG		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		12	46	1	0	7.93312e-07	1	8.54524e-07	12	46				
SHANK1	50944	broad.mit.edu	37	19	51218945	51218945	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:51218945C>T	ENST00000293441.1	-	3	520	c.502G>A	c.(502-504)Gag>Aag	p.E168K	SHANK1_ENST00000391814.1_Missense_Mutation_p.E168K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E168K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	168					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTGCTTCTCATCCAGGTTG	0.542																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(502-504)Gag>Aag		SH3 and multiple ankyrin repeat domains 1							205.0	189.0	194.0					19																	51218945		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51218945C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.502G>A	19.37:g.51218945C>T	ENSP00000293441:p.Glu168Lys					SHANK1_ENST00000391814.1_Missense_Mutation_p.E168K|SHANK1_ENST00000359082.3_Missense_Mutation_p.E168K	p.E168K	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	3	520	-		all_neural(266;0.057)	168					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.502G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	12.54	1.968461	0.34754	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.16897	2.31;2.31;2.31	1.66	1.66	0.24008	.	0.218227	0.24467	U	0.038265	T	0.22742	0.0549	M	0.77486	2.375	0.53688	D	0.999978	D	0.57571	0.98	B	0.43809	0.432	T	0.31052	-0.9957	10	0.72032	D	0.01	.	11.0543	0.47909	0.0:1.0:0.0:0.0	.	168	Q9Y566	SHAN1_HUMAN	K	168	ENSP00000293441:E168K;ENSP00000351984:E168K;ENSP00000375690:E168K	ENSP00000293441:E168K	E	-	1	0	SHANK1	55910757	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	6.856000	0.75450	1.273000	0.44346	0.298000	0.19748	GAG		0.542	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		39	159	0	0	0	1	0	39	159				
MMP16	4325	broad.mit.edu	37	8	89180150	89180150	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr8:89180150G>A	ENST00000286614.6	-	4	738	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	153					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	AAGGCACGGCGAATAGCTTTA	0.373																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(457-459)Cgc>Tgc		matrix metallopeptidase 16 (membrane-inserted)							114.0	103.0	107.0					8																	89180150		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89180150G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.457C>T	8.37:g.89180150G>A	ENSP00000286614:p.Arg153Cys					MMP16_ENST00000544227.1_5'UTR	p.R153C	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			4	738	-			153					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.457C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.751412	0.89753	.	.	ENSG00000156103	ENST00000286614	T	0.23950	1.88	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76849	-0.2807	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	153;153	P51512-2;P51512	.;MMP16_HUMAN	C	153	ENSP00000286614:R153C	ENSP00000286614:R153C	R	-	1	0	MMP16	89249266	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.576000	0.60915	2.937000	0.99478	0.650000	0.86243	CGC		0.373	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		13	68	0	0	0	1	0	13	68				
SPATA5	166378	broad.mit.edu	37	4	123857283	123857283	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:123857283C>T	ENST00000274008.4	+	7	1375	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	436					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGCAAAGTTACGTCAGATATT	0.308																																						ENST00000274008.3																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1306-1308)Cgt>Tgt		spermatogenesis associated 5							49.0	48.0	49.0					4																	123857283		2203	4295	6498	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123857283C>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.1306C>T	4.37:g.123857283C>T	ENSP00000274008:p.Arg436Cys					SPATA5_ENST00000422835.2_3'UTR	p.R436C	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN			7	1375	+			436					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.1306C>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.635124	0.67130	.	.	ENSG00000145375	ENST00000274008	D	0.94417	-3.42	5.45	4.6	0.57074	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.98204	0.9406	H	0.96889	3.9	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.974;1.0	D	0.99308	1.0903	10	0.87932	D	0	-25.1275	15.1996	0.73126	0.1422:0.8578:0.0:0.0	.	436;436	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	C	436	ENSP00000274008:R436C	ENSP00000274008:R436C	R	+	1	0	SPATA5	124076733	1.000000	0.71417	0.997000	0.53966	0.968000	0.65278	2.320000	0.43797	1.269000	0.44280	0.650000	0.86243	CGT		0.308	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		7	230	0	0	0	1	0	7	230				
STRA6	64220	broad.mit.edu	37	15	74472517	74472517	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:74472517C>T	ENST00000323940.5	-	19	2153	c.1908G>A	c.(1906-1908)agG>agA	p.R636R	RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000395105.4_Silent_p.R636R|STRA6_ENST00000563965.1_Silent_p.R675R|STRA6_ENST00000535552.1_Silent_p.R673R|STRA6_ENST00000574278.1_Silent_p.R651R|STRA6_ENST00000449139.2_Silent_p.R636R|STRA6_ENST00000416286.3_Silent_p.R628R|STRA6_ENST00000423167.2_Silent_p.R627R|STRA6_ENST00000574439.1_5'UTR	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	636					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCCAGCGAGCCCTGCCGCGGC	0.647																																						ENST00000323940.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1906-1908)agG>agA		stimulated by retinoic acid 6							96.0	109.0	105.0					15																	74472517		2198	4297	6495	SO:0001819	synonymous_variant	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74472517C>T	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1908G>A	15.37:g.74472517C>T						STRA6_ENST00000563965.1_Silent_p.R675R|STRA6_ENST00000535552.1_Silent_p.R673R|STRA6_ENST00000449139.2_Silent_p.R636R|STRA6_ENST00000423167.2_Silent_p.R627R|STRA6_ENST00000416286.3_Silent_p.R628R|STRA6_ENST00000395105.4_Silent_p.R636R|STRA6_ENST00000574278.1_Silent_p.R651R|STRA6_ENST00000574439.1_5'UTR	p.R636R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN			19	2153	-			636					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	c.1908G>A	CCDS10261.1																																																																																				0.647	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			60	145	0	0	0	1	0	60	145				
CELSR1	9620	broad.mit.edu	37	22	46773075	46773075	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:46773075G>T	ENST00000262738.3	-	24	7466	c.7467C>A	c.(7465-7467)ctC>ctA	p.L2489L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2489					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCAGGCTCAGGAGGACGAAGG	0.602																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(7465-7467)ctC>ctA		cadherin, EGF LAG seven-pass G-type receptor 1							74.0	64.0	67.0					22																	46773075		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46773075G>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7467C>A	22.37:g.46773075G>T							p.L2489L	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	24	7466	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2489					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.7467C>A	CCDS14076.1																																																																																				0.602	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		25	34	1	0	1.1804e-14	1	1.37779e-14	25	34				
CAPRIN2	65981	broad.mit.edu	37	12	30867899	30867899	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:30867899A>T	ENST00000395805.2	-	14	3023	c.2476T>A	c.(2476-2478)Tat>Aat	p.Y826N	CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548N|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.Y882N	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATACCTTTATAACCACCAGGG	0.413																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2644-2646)Tat>Aat		caprin family member 2							76.0	77.0	77.0					12																	30867899		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30867899A>T	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.2476T>A	12.37:g.30867899A>T	ENSP00000379150:p.Tyr826Asn					CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Y826N|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Y832N|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.Y548N|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Y881N	p.Y882N	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			15	3394	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		882						Missense_Mutation	SNP	ENST00000395805.2	37	c.2644T>A	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640884	0.67244	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	5.54	5.54	0.83059	.	0.171581	0.40554	N	0.001077	T	0.47395	0.1443	L	0.53249	1.67	0.49915	D	0.999835	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;0.999	D;D;D;D;D	0.91635	0.999;0.976;0.951;0.934;0.978	T	0.44221	-0.9342	10	0.62326	D	0.03	-10.7652	15.6907	0.77450	1.0:0.0:0.0:0.0	.	826;881;882;832;881	Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;CAPR2_HUMAN;.;.	N	627;832;826;882;548;881	ENSP00000415407:Y627N;ENSP00000298892:Y832N;ENSP00000379150:Y826N;ENSP00000251071:Y882N;ENSP00000309785:Y548N;ENSP00000391479:Y881N	ENSP00000251071:Y882N	Y	-	1	0	CAPRIN2	30759166	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.226000	0.65299	2.103000	0.63969	0.533000	0.62120	TAT		0.413	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925		51	110	0	0	0	1	0	51	110				
OR14K1	343170	broad.mit.edu	37	1	247902430	247902430	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:247902430C>A	ENST00000283225.2	+	1	514	c.514C>A	c.(514-516)Cta>Ata	p.L172I	RP11-634B7.4_ENST00000449298.1_RNA			Q8NGZ2	O14K1_HUMAN	olfactory receptor, family 14, subfamily K, member 1	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTCTGATGAGCTACATCAGTT	0.483																																						ENST00000283225.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						c.(514-516)Cta>Ata		olfactory receptor, family 14, subfamily K, member 1							223.0	220.0	221.0					1																	247902430		2027	4193	6220	SO:0001583	missense	343170							g.chr1:247902430C>A	BK004377		1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000153230	ENSG00000153230		"""GPCR / Class A : Olfactory receptors"""	15025	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AY, member 1"""	OR5AY1			Standard	NG_007559		Approved			Q8NGZ2	OTTHUMG00000040211	ENST00000283225.2:c.514C>A	1.37:g.247902430C>A	ENSP00000283225:p.Leu172Ile					RP11-634B7.4_ENST00000449298.1_RNA	p.L172I							1	514	+								A8MPV5|Q6IF85|Q96R53	Missense_Mutation	SNP	ENST00000283225.2	37	c.514C>A		.	.	.	.	.	.	.	.	.	.	A	1.084	-0.665945	0.03428	.	.	ENSG00000153230	ENST00000283225	T	0.00029	8.91	3.77	-7.54	0.01332	.	0.480581	0.15003	N	0.285985	T	0.00039	0.0001	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43572	-0.9383	7	0.02654	T	1	.	3.3599	0.07182	0.2315:0.4329:0.2287:0.1069	.	.	.	.	I	172	ENSP00000283225:L172I	ENSP00000283225:L172I	L	+	1	2	OR14K1	245969053	0.000000	0.05858	0.000000	0.03702	0.381000	0.30169	-0.692000	0.05127	-2.600000	0.00451	-0.422000	0.05995	CTA		0.483	OR14K1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000096868.1	NM_001004732		53	242	1	0	4.33383e-22	1	5.27006e-22	53	242				
ZNF214	7761	broad.mit.edu	37	11	7021161	7021161	+	Missense_Mutation	SNP	G	G	T	rs570929738		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:7021161G>T	ENST00000278314.4	-	3	2068	c.1753C>A	c.(1753-1755)Cgt>Agt	p.R585S	ZNF214_ENST00000536068.1_Missense_Mutation_p.R585S|ZNF214_ENST00000531083.1_5'Flank	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	585					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TAATATTCACGGCATTTGTAA	0.338																																					Ovarian(22;251 657 736 21522 46864)	ENST00000278314.4																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1753-1755)Cgt>Agt		zinc finger protein 214							72.0	76.0	75.0					11																	7021161		2200	4295	6495	SO:0001583	missense	7761				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:7021161G>T	AF056617	CCDS31418.1	11p15.4	2013-01-08				ENSG00000149050		"""Zinc fingers, C2H2-type"", ""-"""	13006	protein-coding gene	gene with protein product		605015					Standard	NM_013249		Approved		uc001mfa.2	Q9UL59		ENST00000278314.4:c.1753C>A	11.37:g.7021161G>T	ENSP00000278314:p.Arg585Ser					ZNF214_ENST00000536068.1_Missense_Mutation_p.R585S	p.R585S	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN		Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)	3	2068	-			585					B2R8Q1	Missense_Mutation	SNP	ENST00000278314.4	37	c.1753C>A	CCDS31418.1	.	.	.	.	.	.	.	.	.	.	G	4.328	0.060323	0.08339	.	.	ENSG00000149050	ENST00000278314;ENST00000536068	T;T	0.59083	0.29;0.29	3.84	1.91	0.25777	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.310441	0.23579	N	0.046663	T	0.26774	0.0655	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.16896	T	0.51	.	6.4203	0.21740	0.0:0.1808:0.4478:0.3713	.	585	Q9UL59	ZN214_HUMAN	S	585	ENSP00000278314:R585S;ENSP00000445373:R585S	ENSP00000278314:R585S	R	-	1	0	ZNF214	6977737	0.000000	0.05858	0.021000	0.16686	0.624000	0.37722	-0.763000	0.04740	0.565000	0.29255	0.555000	0.69702	CGT		0.338	ZNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385349.1			13	72	1	0	0.0167234	1	0.0170159	13	72				
WBP2NL	164684	broad.mit.edu	37	22	42415411	42415411	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:42415411C>G	ENST00000328823.9	+	2	190	c.159C>G	c.(157-159)ctC>ctG	p.L53L	WBP2NL_ENST00000543212.1_5'Flank	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	53	GRAM.				egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CATTGTTTCTCACTTCATACC	0.388																																						ENST00000328823.9																			0				breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						c.(157-159)ctC>ctG		WBP2 N-terminal like							119.0	109.0	112.0					22																	42415411		2203	4300	6503	SO:0001819	synonymous_variant	164684				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding	g.chr22:42415411C>G	BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.159C>G	22.37:g.42415411C>G							p.L53L	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN			2	190	+			53			GRAM.		A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	Silent	SNP	ENST00000328823.9	37	c.159C>G	CCDS14029.1																																																																																				0.388	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322037.1	NM_152613		37	97	0	0	0	1	0	37	97				
SLC13A3	64849	broad.mit.edu	37	20	45224904	45224904	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:45224904T>A	ENST00000279027.4	-	5	704	c.686A>T	c.(685-687)aAc>aTc	p.N229I	SLC13A3_ENST00000372121.1_Missense_Mutation_p.T207S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000495082.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N182I|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T207S	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	229					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTTCCAGATGTTCCGACGATA	0.552																																						ENST00000279027.4																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(685-687)aAc>aTc		solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	Succinic acid(DB00139)						145.0	129.0	134.0					20																	45224904		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45224904T>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.686A>T	20.37:g.45224904T>A	ENSP00000279027:p.Asn229Ile					SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000495082.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000372121.1_Missense_Mutation_p.T207S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N182I|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N182I|SLC13A3_ENST00000413164.2_Missense_Mutation_p.T207S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N182I	p.N229I	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN			5	704	-		Myeloproliferative disorder(115;0.0122)	229					B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.686A>T	CCDS13400.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	t|t|t	15.34|15.34|15.34	2.804917|2.804917|2.804917	0.50315|0.50315|0.50315	.|.|.	.|.|.	ENSG00000158296|ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915|ENST00000413164;ENST00000420568;ENST00000372121	.|T;T;T;T;T;T|T;T;T	.|0.02837|0.10860	.|4.14;4.14;4.14;4.14;4.14;4.14|3.59;2.83;2.85	5.61|5.61|5.61	4.51|4.51|4.51	0.55191|0.55191|0.55191	.|.|.	.|0.295334|.	.|0.43260|.	.|D|.	.|0.000581|.	T|T|T	0.09818|0.09818|0.09818	0.0241|0.0241|0.0241	L|L|L	0.60904|0.60904|0.60904	1.88|1.88|1.88	0.33783|0.33783|0.33783	D|D|D	0.624461|0.624461|0.624461	.|P;B;P|P	.|0.50066|0.38922	.|0.842;0.137;0.931|0.651	.|P;B;P|B	.|0.55011|0.30401	.|0.724;0.436;0.766|0.115	T|T|T	0.21793|0.21793|0.21793	-1.0235|-1.0235|-1.0235	5|10|9	.|0.62326|0.25106	.|D|T	.|0.03|0.35	-25.2759|-25.2759|-25.2759	8.8984|8.8984|8.8984	0.35479|0.35479|0.35479	0.0:0.1437:0.0:0.8563|0.0:0.1437:0.0:0.8563|0.0:0.1437:0.0:0.8563	.|.|.	.|182;182;229|207	.|Q8WWT9-3;F6WI18;Q8WWT9|B4DIR8	.|.;.;S13A3_HUMAN|.	D|I|S	58|182;182;229;182;182;182|207;170;207	.|ENSP00000290317:N182I;ENSP00000379648:N182I;ENSP00000279027:N229I;ENSP00000420177:N182I;ENSP00000419621:N182I;ENSP00000417784:N182I|ENSP00000415852:T207S;ENSP00000395095:T170S;ENSP00000361193:T207S	.|ENSP00000279027:N229I|ENSP00000361193:T207S	E|N|T	-|-|-	3|2|1	2|0|0	SLC13A3|SLC13A3|SLC13A3	44658311|44658311|44658311	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.393000|0.393000|0.393000	0.30537|0.30537|0.30537	3.992000|3.992000|3.992000	0.56980|0.56980|0.56980	0.961000|0.961000|0.961000	0.38030|0.38030|0.38030	-0.253000|-0.253000|-0.253000	0.11424|0.11424|0.11424	GAA|AAC|ACA		0.552	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			31	102	0	0	0	1	0	31	102				
CHPF	79586	broad.mit.edu	37	2	220404341	220404341	+	Missense_Mutation	SNP	C	C	T	rs143750392		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:220404341C>T	ENST00000243776.6	-	4	2340	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	CHPF_ENST00000535926.1_Missense_Mutation_p.E536K	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	698					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AGCTCCTCTTCTTGTTCTGAG	0.637													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16941	0.0		0.0	False		,,,				2504	0.0					ENST00000243776.6																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(2092-2094)Gaa>Aaa		chondroitin polymerizing factor		C	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	47.0	53.0	51.0		1606,2092	3.6	1.0	2	dbSNP_134	51	5,8593	4.3+/-15.6	0,5,4294	yes	missense,missense	CHPF	NM_001195731.1,NM_024536.5	56,56	0,6,6496	TT,TC,CC		0.0582,0.0227,0.0461	benign,benign	536/614,698/776	220404341	6,12998	2203	4299	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220404341C>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2092G>A	2.37:g.220404341C>T	ENSP00000243776:p.Glu698Lys					CHPF_ENST00000535926.1_Missense_Mutation_p.E536K	p.E698K	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	2340	-		Renal(207;0.0183)	698					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.2092G>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676798	0.29783	2.27E-4	5.82E-4	ENSG00000123989	ENST00000243776;ENST00000535926	T;T	0.15834	2.39;2.39	4.57	3.62	0.41486	.	0.287739	0.34507	N	0.003913	T	0.11793	0.0287	L	0.38531	1.155	0.34153	D	0.667712	B	0.26318	0.146	B	0.30316	0.114	T	0.10474	-1.0628	10	0.39692	T	0.17	-22.6212	3.4005	0.07321	0.0:0.5385:0.2463:0.2152	.	698	Q8IZ52	CHSS2_HUMAN	K	698;536	ENSP00000243776:E698K;ENSP00000445571:E536K	ENSP00000243776:E698K	E	-	1	0	CHPF	220112585	0.988000	0.35896	1.000000	0.80357	0.504000	0.33889	2.636000	0.46545	2.544000	0.85801	0.561000	0.74099	GAA		0.637	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536		36	88	0	0	0	1	0	36	88				
ROBO2	6092	broad.mit.edu	37	3	77651526	77651526	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:77651526G>A	ENST00000461745.1	+	20	3920	c.3020G>A	c.(3019-3021)aGc>aAc	p.S1007N	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1023N|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1007N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1007					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATTCCAACAGCATACATGAA	0.423																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(3019-3021)aGc>aAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							116.0	107.0	110.0					3																	77651526		1979	4167	6146	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77651526G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3020G>A	3.37:g.77651526G>A	ENSP00000417164:p.Ser1007Asn					ROBO2_ENST00000487694.3_Missense_Mutation_p.S1023N|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1007N	p.S1007N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	20	3920	+			1007					O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.3020G>A	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.886|9.886	1.203030|1.203030	0.22121|0.22121	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000490991|ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	.|T;T;T	.|0.60797	.|0.16;0.2;0.17	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.56097	.|D	.|0.000039	T|T	0.34803|0.34803	0.0910|0.0910	N|N	0.01809|0.01809	-0.71|-0.71	.|.	.|.	.|.	.|B;B;B	.|0.30605	.|0.287;0.281;0.145	.|B;B;B	.|0.34093	.|0.057;0.175;0.032	T|T	0.38200|0.38200	-0.9672|-0.9672	4|9	.|0.10636	.|T	.|0.68	.|.	20.1432|20.1432	0.98067|0.98067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1023;1007;1007	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	T|N	164|1023;1023;1027;1007;1007	.|ENSP00000417335:S1023N;ENSP00000417164:S1007N;ENSP00000327536:S1007N	.|ENSP00000327536:S1007N	A|S	+|+	1|2	0|0	ROBO2|ROBO2	77734216|77734216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	9.476000|9.476000	0.97823|0.97823	2.769000|2.769000	0.95229|0.95229	0.561000|0.561000	0.74099|0.74099	GCA|AGC		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		20	48	0	0	0	1	0	20	48				
PNLIP	5406	broad.mit.edu	37	10	118314954	118314954	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:118314954T>G	ENST00000369221.2	+	8	774	c.746T>G	c.(745-747)gTg>gGg	p.V249G		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	249					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	AATGGAGGAGTGGAAATGCCT	0.398																																						ENST00000369221.2																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43						c.(745-747)gTg>gGg		pancreatic lipase	Bentiromide(DB00522)|Orlistat(DB01083)						131.0	133.0	132.0					10																	118314954		2203	4300	6503	SO:0001583	missense	5406				lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity	g.chr10:118314954T>G	BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.746T>G	10.37:g.118314954T>G	ENSP00000358223:p.Val249Gly						p.V249G	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN		all cancers(201;0.0131)	8	774	+			249					Q5VSQ2	Missense_Mutation	SNP	ENST00000369221.2	37	c.746T>G	CCDS7594.1	.	.	.	.	.	.	.	.	.	.	T	6.302	0.423884	0.11928	.	.	ENSG00000175535	ENST00000369221	D	0.91577	-2.87	6.01	-1.15	0.09709	Lipase, N-terminal (1);	1.435330	0.04071	N	0.307965	D	0.86764	0.6011	L	0.42487	1.325	0.09310	N	0.999999	B	0.13145	0.007	B	0.11329	0.006	T	0.70051	-0.4978	10	0.32370	T	0.25	.	10.4228	0.44361	0.7871:0.0:0.0754:0.1374	.	249	P16233	LIPP_HUMAN	G	249	ENSP00000358223:V249G	ENSP00000358223:V249G	V	+	2	0	PNLIP	118304944	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	0.241000	0.18065	-0.402000	0.07633	-0.341000	0.08007	GTG		0.398	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050524.1	NM_000936		18	126	0	0	0	1	0	18	126				
WDR27	253769	broad.mit.edu	37	6	170033070	170033070	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:170033070C>T	ENST00000448612.1	-	21	2305	c.2196G>A	c.(2194-2196)cgG>cgA	p.R732R	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Silent_p.R732R|WDR27_ENST00000423258.1_Silent_p.R605R	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	702						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GATGGACAGGCCGTGAGTGGG	0.468																																						ENST00000333572.6																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12						c.(2194-2196)cgG>cgA		WD repeat domain 27							71.0	74.0	73.0					6																	170033070		1935	4135	6070	SO:0001819	synonymous_variant	253769							g.chr6:170033070C>T	AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2196G>A	6.37:g.170033070C>T						WDR27_ENST00000448612.1_Silent_p.R732R|WDR27_ENST00000423258.1_Silent_p.R605R|WDR27_ENST00000546525.1_5'UTR	p.R732R			A2RRH5	WDR27_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)	21	2715	-		Breast(66;1.53e-05)|Ovarian(120;0.216)	702					A5PLM8|C9JGV0|Q5T066	Silent	SNP	ENST00000448612.1	37	c.2196G>A	CCDS47520.2																																																																																				0.468	WDR27-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407334.1	NM_182552		4	36	0	0	0	1	0	4	36				
MYH13	8735	broad.mit.edu	37	17	10209851	10209851	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:10209851C>T	ENST00000418404.3	-	36	5554	c.5391G>A	c.(5389-5391)ctG>ctA	p.L1797L	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.L1797L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1797					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACGGTGCTGCAGGTCCTTCA	0.557																																						ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(5389-5391)ctG>ctA		myosin, heavy chain 13, skeletal muscle							157.0	159.0	158.0					17																	10209851		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10209851C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.5391G>A	17.37:g.10209851C>T						MYH13_ENST00000570743.1_Silent_p.L1797L|MYH13_ENST00000252172.4_Silent_p.L1797L	p.L1797L			Q9UKX3	MYH13_HUMAN			36	5554	-			1797					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.5391G>A	CCDS45613.1																																																																																				0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		75	114	0	0	0	1	0	75	114				
DSCAM	1826	broad.mit.edu	37	21	41457578	41457578	+	Silent	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:41457578G>T	ENST00000400454.1	-	23	4560	c.4083C>A	c.(4081-4083)gcC>gcA	p.A1361A		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1361	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGTTGTTATTGGCAATGCAGC	0.393																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4081-4083)gcC>gcA		Down syndrome cell adhesion molecule							119.0	115.0	116.0					21																	41457578		1878	4107	5985	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41457578G>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4083C>A	21.37:g.41457578G>T							p.A1361A	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			23	4560	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1361			Ig-like C2-type 10.		O60468	Silent	SNP	ENST00000400454.1	37	c.4083C>A	CCDS42929.1																																																																																				0.393	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		32	99	1	0	1.36161e-19	1	1.62741e-19	32	99				
F13B	2165	broad.mit.edu	37	1	197026314	197026314	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:197026314C>A	ENST00000367412.1	-	7	1043	c.1000G>T	c.(1000-1002)Gta>Tta	p.V334L		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	334	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCACAGGCTACCTTCTCCTGT	0.388																																						ENST00000367412.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						c.(1000-1002)Gta>Tta		coagulation factor XIII, B polypeptide							80.0	76.0	77.0					1																	197026314		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197026314C>A	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1000G>T	1.37:g.197026314C>A	ENSP00000356382:p.Val334Leu						p.V334L	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN			7	1043	-			334			Sushi 6.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1000G>T	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	5.518	0.280594	0.10458	.	.	ENSG00000143278	ENST00000367412	T	0.71222	-0.55	5.78	-0.708	0.11241	Complement control module (2);Sushi/SCR/CCP (1);	1.379140	0.05301	N	0.523038	T	0.63082	0.2481	L	0.55834	1.745	0.09310	N	1	B	0.17268	0.021	B	0.15870	0.014	T	0.40136	-0.9579	10	0.12430	T	0.62	.	9.7246	0.40324	0.0:0.3894:0.0:0.6106	.	334	P05160	F13B_HUMAN	L	334	ENSP00000356382:V334L	ENSP00000356382:V334L	V	-	1	0	F13B	195292937	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.378000	0.07446	-0.340000	0.08388	-0.355000	0.07637	GTA		0.388	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		22	89	1	0	3.10358e-05	1	3.29225e-05	22	89				
CATSPERD	257062	broad.mit.edu	37	19	5727306	5727306	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:5727306A>G	ENST00000381624.3	+	3	215	c.154A>G	c.(154-156)Aca>Gca	p.T52A	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	52					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCCTACAACAACACGCTTGAT	0.299																																						ENST00000381624.3																			0											c.(154-156)Aca>Gca		catsper channel auxiliary subunit delta							111.0	102.0	105.0					19																	5727306		1817	4068	5885	SO:0001583	missense	257062					integral to membrane		g.chr19:5727306A>G	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.154A>G	19.37:g.5727306A>G	ENSP00000371037:p.Thr52Ala					CATSPERD_ENST00000381614.2_5'UTR	p.T52A	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN			3	215	+			52					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.154A>G	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	A	5.235	0.228862	0.09916	.	.	ENSG00000174898	ENST00000381624	T	0.23754	1.89	3.0	-3.18	0.05186	.	.	.	.	.	T	0.18635	0.0447	L	0.50333	1.59	0.09310	N	0.999999	B	0.16396	0.017	B	0.14023	0.01	T	0.32877	-0.9890	9	0.87932	D	0	.	2.7036	0.05156	0.2466:0.4853:0.1094:0.1587	.	52	Q86XM0	TM146_HUMAN	A	52	ENSP00000371037:T52A	ENSP00000371037:T52A	T	+	1	0	TMEM146	5678306	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-1.588000	0.02106	-0.962000	0.03604	-0.687000	0.03738	ACA		0.299	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		11	141	0	0	0	1	0	11	141				
FGA	2243	broad.mit.edu	37	4	155507937	155507937	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155507937G>A	ENST00000302053.3	-	5	722	c.644C>T	c.(643-645)tCt>tTt	p.S215F	FGA_ENST00000403106.3_Missense_Mutation_p.S215F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	215				SR -> RS (in Ref. 10; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTATCTCTAGAGGGAAGTAA	0.458																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(643-645)tCt>tTt		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						137.0	139.0	138.0					4																	155507937		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507937G>A		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.644C>T	4.37:g.155507937G>A	ENSP00000306361:p.Ser215Phe					FGA_ENST00000403106.3_Missense_Mutation_p.S215F	p.S215F	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	722	-	all_hematologic(180;0.215)	Renal(120;0.0458)	215	SR -> RS (in Ref. 9; AA sequence).				A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.644C>T	CCDS3787.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.16|13.16	2.153891|2.153891	0.38021|0.38021	.|.	.|.	ENSG00000171560|ENSG00000171560	ENST00000457487|ENST00000302053;ENST00000403106	.|D;D	.|0.82803	.|-1.65;-1.65	5.78|5.78	4.89|4.89	0.63831|0.63831	.|Fibrinogen, alpha/beta/gamma chain, coiled coil domain (1);	.|1.094610	.|0.06786	.|N	.|0.786155	.|D	.|0.82875	.|0.5132	M|M	0.70275|0.70275	2.135|2.135	0.09310|0.09310	N|N	1|1	.|D;D	.|0.57899	.|0.981;0.967	.|P;B	.|0.44732	.|0.459;0.27	.|T	.|0.73827	.|-0.3860	.|10	.|0.72032	.|D	.|0.01	.|.	5.476|5.476	0.16695|0.16695	0.1067:0.1285:0.6327:0.132|0.1067:0.1285:0.6327:0.132	.|.	.|215;215	.|P02671-2;P02671	.|.;FIBA_HUMAN	.|F	-1|215	.|ENSP00000306361:S215F;ENSP00000385981:S215F	.|ENSP00000306361:S215F	.|S	-|-	.|2	.|0	FGA|FGA	155727387|155727387	0.006000|0.006000	0.16342|0.16342	0.008000|0.008000	0.14137|0.14137	0.110000|0.110000	0.19582|0.19582	1.602000|1.602000	0.36783|0.36783	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	.|TCT		0.458	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		11	129	0	0	0	1	0	11	129				
FAAH2	158584	broad.mit.edu	37	X	57337083	57337083	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:57337083G>T	ENST00000374900.4	+	3	453	c.333G>T	c.(331-333)caG>caT	p.Q111H		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	111						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						CAGAGAAGCAGGAAGATGAAG	0.408										HNSCC(52;0.14)																												ENST00000374900.4																			0				endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						c.(331-333)caG>caT		fatty acid amide hydrolase 2							87.0	75.0	79.0					X																	57337083		2203	4300	6503	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57337083G>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.333G>T	X.37:g.57337083G>T	ENSP00000364035:p.Gln111His	HNSCC(52;0.14)					p.Q111H	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN			3	453	+			111					Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.333G>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	5.077	0.199923	0.09652	.	.	ENSG00000165591	ENST00000374900	T	0.55413	0.52	2.34	0.0681	0.14368	Amidase signature domain (2);	0.512972	0.16953	U	0.192808	T	0.27967	0.0689	N	0.16656	0.425	0.20196	N	0.999925	B	0.02656	0.0	B	0.12837	0.008	T	0.09335	-1.0679	10	0.42905	T	0.14	.	1.857	0.03181	0.2238:0.0:0.4457:0.3305	.	111	Q6GMR7	FAAH2_HUMAN	H	111	ENSP00000364035:Q111H	ENSP00000364035:Q111H	Q	+	3	2	FAAH2	57353808	0.357000	0.24938	0.563000	0.28383	0.725000	0.41563	0.123000	0.15708	0.894000	0.36317	0.415000	0.27848	CAG		0.408	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		21	24	1	0	0.00188189	1	0.00194314	21	24				
KIAA1524	57650	broad.mit.edu	37	3	108284262	108284262	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:108284262C>G	ENST00000295746.8	-	12	1531	c.1455G>C	c.(1453-1455)ttG>ttC	p.L485F	KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.L326F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	485					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTTGTTAATCAAATCAAGAG	0.289																																						ENST00000295746.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1453-1455)ttG>ttC		KIAA1524							60.0	62.0	61.0					3																	108284262		2201	4287	6488	SO:0001583	missense	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108284262C>G	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.1455G>C	3.37:g.108284262C>G	ENSP00000295746:p.Leu485Phe					KIAA1524_ENST00000487834.1_5'UTR|KIAA1524_ENST00000491772.1_Missense_Mutation_p.L326F	p.L485F	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN			12	1531	-			485					A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	c.1455G>C	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.203416	0.58234	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.36520	1.25;1.25	5.52	2.45	0.29901	.	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.49000	-0.8984	10	0.72032	D	0.01	-5.459	2.5511	0.04749	0.1659:0.4735:0.2003:0.1604	.	485	Q8TCG1	CIP2A_HUMAN	F	326;485	ENSP00000419487:L326F;ENSP00000295746:L485F	ENSP00000295746:L485F	L	-	3	2	KIAA1524	109766952	0.954000	0.32549	1.000000	0.80357	0.950000	0.60333	0.024000	0.13555	0.716000	0.32124	0.655000	0.94253	TTG		0.289	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		25	191	0	0	0	1	0	25	191				
MACROD2	140733	broad.mit.edu	37	20	15412049	15412049	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:15412049G>A	ENST00000310348.4	+	7	540		c.e7-1		MACROD2_ENST00000402914.1_Splice_Site|MACROD2_ENST00000217246.4_Splice_Site			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2						brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTTATTCACAGGCATTTCCCT	0.333																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.e7-1		MACRO domain containing 2							305.0	276.0	285.0					20																	15412049		1861	4091	5952	SO:0001630	splice_region_variant	140733							g.chr20:15412049G>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.541-1G>A	20.37:g.15412049G>A						MACROD2_ENST00000310348.4_Splice_Site|MACROD2_ENST00000402914.1_Splice_Site		NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			7	935	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)						A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Splice_Site	SNP	ENST00000310348.4	37		CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061797	0.76187	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9876	0.71359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MACROD2	15360049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.751000	0.62169	2.585000	0.87301	0.650000	0.86243	.		0.333	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Intron	40	132	0	0	0	1	0	40	132				
MED15	51586	broad.mit.edu	37	22	20909266	20909266	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr22:20909266G>A	ENST00000263205.7	+	5	351	c.282G>A	c.(280-282)gcG>gcA	p.A94A	MED15_ENST00000541476.1_Silent_p.A68A|MED15_ENST00000292733.7_Silent_p.A94A|MED15_ENST00000406969.1_Silent_p.A68A|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	94					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GACCTGCTGCGGGAGCCGCTG	0.622																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(280-282)gcG>gcA		mediator complex subunit 15							46.0	48.0	47.0					22																	20909266		2200	4293	6493	SO:0001819	synonymous_variant	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20909266G>A	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.282G>A	22.37:g.20909266G>A						MED15_ENST00000406969.1_Silent_p.A68A|MED15_ENST00000541476.1_Silent_p.A68A|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000292733.7_Silent_p.A94A|MED15_ENST00000382974.2_Intron	p.A94A	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		5	351	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	94					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	ENST00000263205.7	37	c.282G>A	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	1.172	-0.640773	0.03557	.	.	ENSG00000099917	ENST00000423862	.	.	.	5.4	-10.8	0.00216	.	.	.	.	.	T	0.32376	0.0827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40627	-0.9553	4	.	.	.	.	2.4993	0.04630	0.2357:0.0834:0.3507:0.3302	.	.	.	.	R	62	.	.	G	+	1	0	MED15	19239266	0.000000	0.05858	0.011000	0.14972	0.039000	0.13416	-1.302000	0.02746	-2.017000	0.00944	-0.302000	0.09304	GGG		0.622	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		42	62	0	0	0	1	0	42	62				
KIFAP3	22920	broad.mit.edu	37	1	170001043	170001043	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:170001043C>A	ENST00000361580.2	-	8	1052	c.825G>T	c.(823-825)caG>caT	p.Q275H	KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231H|KIFAP3_ENST00000367765.1_Missense_Mutation_p.Q235H|KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197H	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	275					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATAGCTGTTCCTGTTTTACCA	0.348																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(703-705)caG>caT		kinesin-associated protein 3							187.0	193.0	191.0					1																	170001043		2202	4299	6501	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170001043C>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.825G>T	1.37:g.170001043C>A	ENSP00000354560:p.Gln275His					KIFAP3_ENST00000538366.1_Missense_Mutation_p.Q197H|KIFAP3_ENST00000361580.2_Missense_Mutation_p.Q275H|KIFAP3_ENST00000367767.1_Missense_Mutation_p.Q231H	p.Q235H	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			8	2206	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		275					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.705G>T	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545199	0.65198	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.55413	0.52;0.52;0.52;0.52	5.59	1.96	0.26148	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	M	0.86097	2.795	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.65331	-0.6194	9	.	.	.	-14.2731	9.5737	0.39445	0.0:0.6769:0.0:0.3231	.	275	Q92845	KIFA3_HUMAN	H	275;235;231;197	ENSP00000354560:Q275H;ENSP00000356739:Q235H;ENSP00000356741:Q231H;ENSP00000444622:Q197H	.	Q	-	3	2	KIFAP3	168267667	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	1.054000	0.30455	0.088000	0.17205	-0.291000	0.09656	CAG		0.348	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		46	237	1	0	9.22156e-22	1	1.11747e-21	46	237				
ASPRV1	151516	broad.mit.edu	37	2	70188050	70188050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:70188050C>T	ENST00000320256.4	-	1	1347	c.771G>A	c.(769-771)tgG>tgA	p.W257*	PCBP1-AS1_ENST00000457076.1_RNA|PCBP1-AS1_ENST00000419542.1_RNA|PCBP1-AS1_ENST00000596259.1_RNA|PCBP1-AS1_ENST00000418564.1_RNA|PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000435880.2_RNA	NM_152792.2	NP_690005.2			aspartic peptidase, retroviral-like 1											endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCGCTGTATCCCAGACACCCA	0.557																																						ENST00000320256.4																			0				endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						c.(769-771)tgG>tgA		aspartic peptidase, retroviral-like 1							101.0	88.0	93.0					2																	70188050		2203	4300	6503	SO:0001587	stop_gained	151516				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	g.chr2:70188050C>T	AK055994	CCDS1897.1	2p13.3	2008-02-20			ENSG00000244617	ENSG00000244617			26321	protein-coding gene	gene with protein product	"""Skin ASpartic Protease"""	611765				16098038, 16565508	Standard	NM_152792		Approved	Taps, SASPase, FLJ25084	uc002sfz.4	Q53RT3	OTTHUMG00000129647	ENST00000320256.4:c.771G>A	2.37:g.70188050C>T	ENSP00000315383:p.Trp257*						p.W257*	NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN			1	1347	-			257			Peptidase A2.			Nonsense_Mutation	SNP	ENST00000320256.4	37	c.771G>A	CCDS1897.1	.	.	.	.	.	.	.	.	.	.	C	41	8.616104	0.98886	.	.	ENSG00000244617	ENST00000320256	.	.	.	5.09	5.09	0.68999	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-9.1769	13.8664	0.63592	0.0:1.0:0.0:0.0	.	.	.	.	X	257	.	ENSP00000315383:W257X	W	-	3	0	ASPRV1	70041554	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	2.361000	0.44160	2.646000	0.89796	0.655000	0.94253	TGG		0.557	ASPRV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334161.1	NM_152792		23	80	0	0	0	1	0	23	80				
ZNF85	7639	broad.mit.edu	37	19	21131712	21131712	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:21131712G>T	ENST00000328178.8	+	4	505	c.392G>T	c.(391-393)tGt>tTt	p.C131F	ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F|ZNF85_ENST00000601023.1_Missense_Mutation_p.C72F|ZNF85_ENST00000597314.1_3'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	131					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)|transcription corepressor activity (GO:0003714)	p.C131F(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAGGAGGTTGTAATGGACTT	0.328																																						ENST00000601023.1																			1	Substitution - Missense(1)	p.C131F(1)	lung(1)	breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(214-216)tGt>tTt		zinc finger protein 85							66.0	68.0	68.0					19																	21131712		2203	4300	6503	SO:0001583	missense	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131712G>T	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.392G>T	19.37:g.21131712G>T	ENSP00000329793:p.Cys131Phe					ZNF85_ENST00000345030.6_Missense_Mutation_p.C98F|ZNF85_ENST00000328178.8_Missense_Mutation_p.C131F|ZNF85_ENST00000597314.1_3'UTR	p.C72F			Q03923	ZNF85_HUMAN			2	861	+			131			KRAB.		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	ENST00000328178.8	37	c.215G>T	CCDS32977.1	.	.	.	.	.	.	.	.	.	.	.	2.203	-0.382634	0.04966	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05786	3.53;3.39	1.23	-0.101	0.13618	.	.	.	.	.	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;B;B	0.15930	0.0;0.015;0.002	B;B;B	0.08055	0.002;0.003;0.003	T	0.45425	-0.9262	9	0.30078	T	0.28	.	2.4029	0.04406	0.3698:0.0:0.3872:0.243	.	98;72;131	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	F	131;98;6	ENSP00000329793:C131F;ENSP00000342340:C98F	ENSP00000329793:C131F	C	+	2	0	ZNF85	20923552	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.162000	0.03141	-1.000000	0.03438	-0.556000	0.04195	TGT		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		34	109	1	0	6.90743e-12	1	7.85242e-12	34	109				
KCNA3	3738	broad.mit.edu	37	1	111215769	111215769	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:111215769T>A	ENST00000369769.2	-	1	1886	c.1663A>T	c.(1663-1665)Acc>Tcc	p.T555S		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	555					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	GTGGTGCAGGTGGCAGTGGAA	0.458																																						ENST00000369769.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38						c.(1663-1665)Acc>Tcc		potassium voltage-gated channel, shaker-related subfamily, member 3							172.0	159.0	163.0					1																	111215769		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111215769T>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1663A>T	1.37:g.111215769T>A	ENSP00000358784:p.Thr555Ser						p.T555S	NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	1886	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	555					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.1663A>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	T	7.524	0.657242	0.14580	.	.	ENSG00000177272	ENST00000369769	D	0.96685	-4.09	5.87	0.625	0.17665	.	0.368714	0.25958	U	0.027207	T	0.76314	0.3970	N	0.08118	0	0.24096	N	0.995895	B	0.23442	0.085	B	0.22386	0.039	T	0.72537	-0.4263	10	0.11794	T	0.64	.	6.9435	0.24506	0.0:0.1274:0.3605:0.5121	.	555	P22001	KCNA3_HUMAN	S	555	ENSP00000358784:T555S	ENSP00000358784:T555S	T	-	1	0	KCNA3	111017292	0.764000	0.28473	0.997000	0.53966	0.997000	0.91878	-0.041000	0.12084	-0.127000	0.11661	0.529000	0.55759	ACC		0.458	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		46	116	0	0	0	1	0	46	116				
WDR45B	56270	broad.mit.edu	37	17	80576938	80576938	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:80576938G>C	ENST00000392325.4	-	7	879	c.685C>G	c.(685-687)Caa>Gaa	p.Q229E	WDR45B_ENST00000571835.1_5'UTR	NM_019613.3	NP_062559.2	Q5MNZ6	WIPI3_HUMAN	WD repeat domain 45B	229								p.Q229E(1)									TTGGCTGCTTGAGATCCTCTT	0.463																																						ENST00000392325.4																			1	Substitution - Missense(1)	p.Q229E(1)	breast(1)								c.(685-687)Caa>Gaa		WD repeat domain 45B							100.0	90.0	93.0					17																	80576938		2203	4300	6503	SO:0001583	missense	56270							g.chr17:80576938G>C	AF091083	CCDS11815.2	17q25.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000141580	ENSG00000141580		"""WD repeat domain containing"""	25072	protein-coding gene	gene with protein product		609226	"""WDR45-like"""	WDR45L		12477932	Standard	NM_019613		Approved	WIPI3	uc002kfq.3	Q5MNZ6	OTTHUMG00000150146	ENST00000392325.4:c.685C>G	17.37:g.80576938G>C	ENSP00000376139:p.Gln229Glu					WDR45B_ENST00000571835.1_5'UTR	p.Q229E	NM_019613.3	NP_062559.2					7	879	-								O95328|Q2MCP6|Q6IBN2	Missense_Mutation	SNP	ENST00000392325.4	37	c.685C>G	CCDS11815.2	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569019	0.65765	.	.	ENSG00000141580	ENST00000392325;ENST00000539012	T	0.53857	0.6	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.110263	0.64402	D	0.000004	T	0.35970	0.0950	N	0.05487	-0.04	0.80722	D	1	B	0.18610	0.029	B	0.16289	0.015	T	0.11155	-1.0599	10	0.30854	T	0.27	-17.4593	19.1447	0.93459	0.0:0.0:1.0:0.0	.	229	Q5MNZ6	WIPI3_HUMAN	E	229;201	ENSP00000376139:Q229E	ENSP00000376139:Q229E	Q	-	1	0	WDR45L	78170227	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.229000	0.95273	2.608000	0.88229	0.591000	0.81541	CAA		0.463	WDR45B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316536.1	NM_019613		29	95	0	0	0	1	0	29	95				
CACNA2D1	781	broad.mit.edu	37	7	81746389	81746389	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:81746389A>G	ENST00000356253.5	-	6	752	c.497T>C	c.(496-498)gTc>gCc	p.V166A	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.V166A|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.V166A			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	166					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	AGGAATATGGACTGCTGCGTG	0.418																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(496-498)gTc>gCc		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						159.0	143.0	149.0					7																	81746389		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81746389A>G	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.497T>C	7.37:g.81746389A>G	ENSP00000348589:p.Val166Ala					CACNA2D1_ENST00000423588.1_Missense_Mutation_p.V166A|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.V166A	p.V166A	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			6	835	-			166					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.497T>C		.	.	.	.	.	.	.	.	.	.	A	24.0	4.486511	0.84854	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.37752	2.38;2.37;1.18	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75625	-0.3253	10	0.87932	D	0	-15.188	15.4154	0.74962	1.0:0.0:0.0:0.0	.	166	P54289-2	.	A	166	ENSP00000349320:V166A;ENSP00000348589:V166A;ENSP00000405395:V166A	ENSP00000284088:V166A	V	-	2	0	CACNA2D1	81584325	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	6.738000	0.74822	2.046000	0.60703	0.454000	0.30748	GTC		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				22	126	0	0	0	1	0	22	126				
ZBED6CL	113763	broad.mit.edu	37	7	150027717	150027717	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:150027717C>G	ENST00000343855.4	+	1	780	c.224C>G	c.(223-225)aCc>aGc	p.T75S	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	75																	GTGCTGGCCACCTTGCTGGAC	0.607																																						ENST00000343855.4																			0											c.(223-225)aCc>aGc		ZBED6 C-terminal like							90.0	88.0	88.0					7																	150027717		2203	4300	6503	SO:0001583	missense	113763							g.chr7:150027717C>G	BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.224C>G	7.37:g.150027717C>G	ENSP00000343242:p.Thr75Ser					LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000359623.4_Intron	p.T75S	NM_138434.2	NP_612443.1					1	780	+									Missense_Mutation	SNP	ENST00000343855.4	37	c.224C>G	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819996	0.50633	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	3.75	0.43078	.	0.141960	0.28895	U	0.013787	T	0.51244	0.1663	L	0.29908	0.895	0.25977	N	0.982423	D	0.89917	1.0	D	0.87578	0.998	T	0.44159	-0.9346	9	0.66056	D	0.02	.	13.9493	0.64106	0.0:1.0:0.0:0.0	.	75	Q96FA7	CG029_HUMAN	S	75	.	ENSP00000343242:T75S	T	+	2	0	C7orf29	149658650	0.690000	0.27699	0.721000	0.30653	0.293000	0.27360	1.610000	0.36869	2.057000	0.61298	0.558000	0.71614	ACC		0.607	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1	NM_138434		41	105	0	0	0	1	0	41	105				
RYR3	6263	broad.mit.edu	37	15	33893746	33893746	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:33893746G>A	ENST00000389232.4	+	17	1985	c.1915G>A	c.(1915-1917)Gta>Ata	p.V639I	RYR3_ENST00000415757.3_Missense_Mutation_p.V639I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	639	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATTAACGATGTAACCAGGTA	0.507																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1915-1917)Gta>Ata		ryanodine receptor 3							88.0	82.0	84.0					15																	33893746		2030	4204	6234	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33893746G>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1915G>A	15.37:g.33893746G>A	ENSP00000373884:p.Val639Ile					RYR3_ENST00000415757.3_Missense_Mutation_p.V639I	p.V639I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	17	1985	+		all_lung(180;7.18e-09)	639			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.1915G>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241538	0.79912	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95588	-3.75;-3.75	4.57	4.57	0.56435	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.000000	0.64402	D	0.000001	D	0.97145	0.9067	M	0.65498	2.005	0.58432	D	0.999999	D;D	0.69078	0.959;0.997	D;D	0.80764	0.949;0.994	D	0.96615	0.9455	10	0.40728	T	0.16	.	17.9744	0.89122	0.0:0.0:1.0:0.0	.	639;639	Q15413-2;Q15413	.;RYR3_HUMAN	I	639	ENSP00000373884:V639I;ENSP00000399610:V639I	ENSP00000354735:V639I	V	+	1	0	RYR3	31681038	1.000000	0.71417	0.972000	0.41901	0.851000	0.48451	9.539000	0.98076	2.553000	0.86117	0.650000	0.86243	GTA		0.507	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			7	43	0	0	0	1	0	7	43				
OR6K3	391114	broad.mit.edu	37	1	158687738	158687738	+	Missense_Mutation	SNP	G	G	T	rs531806414		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158687738G>T	ENST00000368146.1	-	1	215	c.216C>A	c.(214-216)caC>caA	p.H72Q	OR6K3_ENST00000368145.1_Missense_Mutation_p.H56Q			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	72						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACATGGGGTTGTGGAGATGGG	0.383													G|||	1	0.000199681	0.0	0.0	5008	,	,		18586	0.0		0.0	False		,,,				2504	0.001					ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(214-216)caC>caA		olfactory receptor, family 6, subfamily K, member 3							125.0	140.0	135.0					1																	158687738		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687738G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.216C>A	1.37:g.158687738G>T	ENSP00000357128:p.His72Gln					OR6K3_ENST00000368145.1_Missense_Mutation_p.H56Q	p.H72Q			Q8NGY3	OR6K3_HUMAN			1	215	-	all_hematologic(112;0.0378)		72					Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.216C>A		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448530	0.26074	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.15952	2.38;2.38	4.1	-1.5	0.08691	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.14570	0.0352	L	0.60957	1.885	0.32845	D	0.505866	D	0.69078	0.997	D	0.67382	0.951	T	0.06972	-1.0797	9	0.37606	T	0.19	.	4.8442	0.13505	0.4462:0.0:0.4122:0.1415	.	72	Q8NGY3	OR6K3_HUMAN	Q	56;72	ENSP00000357127:H56Q;ENSP00000357128:H72Q	ENSP00000357127:H56Q	H	-	3	2	OR6K3	156954362	0.290000	0.24343	0.899000	0.35326	0.074000	0.17049	0.285000	0.18883	-0.409000	0.07553	-0.384000	0.06662	CAC		0.383	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				26	228	1	0	8.24728e-16	1	9.69125e-16	26	228				
SIPA1L2	57568	broad.mit.edu	37	1	232650782	232650782	+	Missense_Mutation	SNP	G	G	A	rs376717862		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:232650782G>A	ENST00000366630.1	-	2	662	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R102W			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	102					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTCTGAGACCGGCTTTCCCAC	0.522																																						ENST00000366630.1																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103						c.(304-306)Cgg>Tgg		signal-induced proliferation-associated 1 like 2		G	TRP/ARG	0,4062		0,0,2031	153.0	151.0	151.0		304	4.3	1.0	1		151	1,8377		0,1,4188	no	missense	SIPA1L2	NM_020808.3	101	0,1,6219	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	102/1723	232650782	1,12439	2031	4189	6220	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650782G>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.304C>T	1.37:g.232650782G>A	ENSP00000355589:p.Arg102Trp					SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R102W	p.R102W			Q9P2F8	SI1L2_HUMAN			2	662	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	102					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.304C>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025772	0.35701	0.0	1.19E-4	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79454	-1.27;-1.27	5.19	4.28	0.50868	.	0.316966	0.29699	N	0.011426	T	0.67562	0.2906	L	0.36672	1.1	0.18873	N	0.999988	D	0.62365	0.991	B	0.40410	0.328	T	0.64283	-0.6444	10	0.72032	D	0.01	-16.6831	12.0665	0.53590	0.0:0.0:0.5229:0.4771	.	102	Q9P2F8	SI1L2_HUMAN	W	102	ENSP00000355589:R102W;ENSP00000262861:R102W	ENSP00000262861:R102W	R	-	1	2	SIPA1L2	230717405	0.806000	0.28996	0.992000	0.48379	0.969000	0.65631	3.090000	0.50191	1.414000	0.47017	0.650000	0.86243	CGG		0.522	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		45	170	0	0	0	1	0	45	170				
SORCS1	114815	broad.mit.edu	37	10	108924006	108924006	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:108924006C>A	ENST00000263054.6	-	1	286	c.279G>T	c.(277-279)cgG>cgT	p.R93R	SORCS1_ENST00000344440.6_Silent_p.R93R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	93					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CCCCAGTGCCCCGAGCCCGCT	0.726																																						ENST00000263054.6																			0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127						c.(277-279)cgG>cgT		sortilin-related VPS10 domain containing receptor 1							12.0	13.0	13.0					10																	108924006		2187	4285	6472	SO:0001819	synonymous_variant	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108924006C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.279G>T	10.37:g.108924006C>A						SORCS1_ENST00000344440.6_Silent_p.R93R	p.R93R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	286	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	93					A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Silent	SNP	ENST00000263054.6	37	c.279G>T	CCDS7559.1																																																																																				0.726	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		3	11	1	0	0.115264	1	0.1166	3	11				
ZNF391	346157	broad.mit.edu	37	6	27368981	27368981	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:27368981G>A	ENST00000244576.4	+	3	1377	c.832G>A	c.(832-834)Gag>Aag	p.E278K	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	278					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GAACCCCTATGAGTGCAGTGA	0.463																																						ENST00000244576.4																			0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(832-834)Gag>Aag		zinc finger protein 391							64.0	72.0	69.0					6																	27368981		2186	4291	6477	SO:0001583	missense	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27368981G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.832G>A	6.37:g.27368981G>A	ENSP00000244576:p.Glu278Lys						p.E278K	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN			3	1377	+			278					B4DH77	Missense_Mutation	SNP	ENST00000244576.4	37	c.832G>A	CCDS43429.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387703	0.25031	.	.	ENSG00000124613	ENST00000244576	T	0.19250	2.16	4.0	-0.194	0.13240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.02181	-0.65	0.09310	N	1	B	0.29378	0.243	B	0.36464	0.225	T	0.46816	-0.9164	9	0.13853	T	0.58	.	4.8025	0.13303	0.2932:0.1682:0.5386:0.0	.	278	Q9UJN7	ZN391_HUMAN	K	278	ENSP00000244576:E278K	ENSP00000244576:E278K	E	+	1	0	ZNF391	27476960	0.000000	0.05858	0.005000	0.12908	0.925000	0.55904	-1.628000	0.02031	0.135000	0.18707	0.557000	0.71058	GAG		0.463	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	NM_001076781		9	41	0	0	0	1	0	9	41				
PYHIN1	149628	broad.mit.edu	37	1	158913681	158913681	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:158913681A>T	ENST00000368140.1	+	6	1349	c.1104A>T	c.(1102-1104)aaA>aaT	p.K368N	PYHIN1_ENST00000368138.3_Missense_Mutation_p.K359N|PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K368N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K359N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	368	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CCTGTGAAAAAGGAGATAAGC	0.373																																						ENST00000368140.1																			0				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1102-1104)aaA>aaT		pyrin and HIN domain family, member 1							94.0	94.0	94.0					1																	158913681		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158913681A>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1104A>T	1.37:g.158913681A>T	ENSP00000357122:p.Lys368Asn					PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000392254.2_Missense_Mutation_p.K368N|PYHIN1_ENST00000368138.3_Missense_Mutation_p.K359N|PYHIN1_ENST00000392252.3_Missense_Mutation_p.K359N	p.K368N	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN			6	1349	+	all_hematologic(112;0.0378)		368			HIN-200.		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1104A>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.104714	0.37145	.	.	ENSG00000163564	ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	3.13	0.642	0.17765	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.10723	0.0262	L	0.46157	1.445	0.28505	N	0.913838	P;P;P;P	0.47034	0.865;0.778;0.865;0.889	B;P;B;P	0.46299	0.441;0.511;0.441;0.474	T	0.10870	-1.0611	9	0.66056	D	0.02	.	3.3238	0.07059	0.6228:0.2404:0.1368:0.0	.	359;368;359;368	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9	.;.;.;IFIX_HUMAN	N	368;359;368;359	ENSP00000357122:K368N;ENSP00000357120:K359N;ENSP00000376083:K368N;ENSP00000376082:K359N	ENSP00000357120:K359N	K	+	3	2	PYHIN1	157180305	0.227000	0.23707	0.229000	0.23960	0.012000	0.07955	0.808000	0.27154	-0.000000	0.14550	-0.313000	0.08912	AAA		0.373	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		27	59	0	0	0	1	0	27	59				
EIF2AK1	27102	broad.mit.edu	37	7	6080816	6080816	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:6080816T>A	ENST00000199389.6	-	9	972	c.826A>T	c.(826-828)Agc>Tgc	p.S276C	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S152C|EIF2AK1_ENST00000495565.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	276	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ATGGATGAGCTGCTACTTTCA	0.393																																						ENST00000199389.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27						c.(826-828)Agc>Tgc		eukaryotic translation initiation factor 2-alpha kinase 1							86.0	89.0	88.0					7																	6080816		2203	4300	6503	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6080816T>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.826A>T	7.37:g.6080816T>A	ENSP00000199389:p.Ser276Cys					EIF2AK1_ENST00000536084.1_Missense_Mutation_p.S152C|EIF2AK1_ENST00000495565.1_5'UTR	p.S276C	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	9	972	-		Ovarian(82;0.0423)	276			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.826A>T	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	18.46	3.628630	0.67015	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.15952	2.38;2.38	5.58	0.708	0.18144	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.367561	0.37393	N	0.002110	T	0.23492	0.0568	L	0.45352	1.415	0.39313	D	0.965117	D;D;D	0.65815	0.995;0.99;0.963	P;P;P	0.58873	0.706;0.847;0.635	T	0.01702	-1.1292	10	0.49607	T	0.09	-3.4074	8.0709	0.30689	0.0:0.3163:0.0:0.6837	.	152;275;276	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	C	276;152	ENSP00000199389:S276C;ENSP00000445784:S152C	ENSP00000199389:S276C	S	-	1	0	EIF2AK1	6047342	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	0.879000	0.28146	0.102000	0.17638	0.533000	0.62120	AGC		0.393	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		33	117	0	0	0	1	0	33	117				
SRGAP2	23380	broad.mit.edu	37	1	206619613	206619613	+	Silent	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:206619613C>G	ENST00000414007.1	+	14	1647	c.1647C>G	c.(1645-1647)gtC>gtG	p.V549V	SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	689	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGGCCCTGTCTACAGCAGAG	0.582																																						ENST00000414007.1																			0				NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1645-1647)gtC>gtG		SLIT-ROBO Rho GTPase activating protein 2							128.0	134.0	132.0					1																	206619613		2101	4248	6349	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206619613C>G	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1647C>G	1.37:g.206619613C>G						SRGAP2_ENST00000419187.2_5'UTR|SRGAP2_ENST00000471256.1_3'UTR	p.V549V			O75044	FNBP2_HUMAN			14	1647	+	Breast(84;0.137)		689			Rho-GAP.			Silent	SNP	ENST00000414007.1	37	c.1647C>G		.	.	.	.	.	.	.	.	.	.	C	7.424	0.637376	0.14386	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.79	3.89	0.44902	.	.	.	.	.	T	0.61110	0.2321	.	.	.	0.30907	N	0.729093	.	.	.	.	.	.	T	0.69371	-0.5163	3	.	.	.	.	12.0896	0.53717	0.0:0.6376:0.297:0.0653	.	.	.	.	V	603	.	.	L	+	1	2	SRGAP2	204686236	1.000000	0.71417	0.995000	0.50966	0.805000	0.45488	0.928000	0.28831	1.420000	0.47138	-0.175000	0.13238	CTA		0.582	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		47	169	0	0	0	1	0	47	169				
MYEF2	50804	broad.mit.edu	37	15	48443684	48443684	+	Missense_Mutation	SNP	G	G	A	rs80287989		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:48443684G>A	ENST00000324324.7	-	13	1571	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	MYEF2_ENST00000267836.6_Missense_Mutation_p.S431F	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	431	Gly-rich.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TCTACCAAAGGAATCTCCAAA	0.388																																						ENST00000324324.7																			0				endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1291-1293)tCc>tTc		myelin expression factor 2							236.0	246.0	243.0					15																	48443684		2198	4297	6495	SO:0001583	missense	50804				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding	g.chr15:48443684G>A	AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.1292C>T	15.37:g.48443684G>A	ENSP00000316950:p.Ser431Phe					MYEF2_ENST00000267836.6_Missense_Mutation_p.S431F	p.S431F	NM_016132.3	NP_057216.2	Q9P2K5	MYEF2_HUMAN		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)	13	1571	-		all_lung(180;0.00217)	431			Gly-rich.		A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Missense_Mutation	SNP	ENST00000324324.7	37	c.1292C>T	CCDS32230.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239829	0.79912	.	.	ENSG00000104177	ENST00000324324;ENST00000267836;ENST00000454655	T;T	0.39592	1.07;1.8	5.81	5.81	0.92471	.	0.048620	0.85682	D	0.000000	T	0.60689	0.2288	M	0.64404	1.975	0.80722	D	1	D;D	0.61080	0.98;0.989	P;P	0.58331	0.837;0.691	T	0.60865	-0.7178	10	0.66056	D	0.02	-3.7901	20.0762	0.97745	0.0:0.0:1.0:0.0	.	431;431	Q9P2K5-2;Q9P2K5	.;MYEF2_HUMAN	F	431;431;43	ENSP00000316950:S431F;ENSP00000267836:S431F	ENSP00000267836:S431F	S	-	2	0	MYEF2	46230976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.691000	0.91279	2.756000	0.94617	0.655000	0.94253	TCC		0.388	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132		95	225	0	0	0	1	0	95	225				
BICC1	80114	broad.mit.edu	37	10	60580202	60580202	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:60580202G>A	ENST00000373886.3	+	20	2772	c.2768G>A	c.(2767-2769)aGg>aAg	p.R923K		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	923	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTGGTGCCAGGAGGAAAATG	0.408																																						ENST00000373886.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						c.(2767-2769)aGg>aAg		bicaudal C homolog 1 (Drosophila)							105.0	105.0	105.0					10																	60580202		2203	4300	6503	SO:0001583	missense	80114				multicellular organismal development		RNA binding	g.chr10:60580202G>A	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2768G>A	10.37:g.60580202G>A	ENSP00000362993:p.Arg923Lys						p.R923K	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN			20	2772	+			923			SAM.			Missense_Mutation	SNP	ENST00000373886.3	37	c.2768G>A	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757910	0.89843	.	.	ENSG00000122870	ENST00000373886	D	0.84146	-1.81	6.17	5.27	0.74061	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.74467	2.265	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.83117	-0.0120	10	0.87932	D	0	-14.1509	15.7894	0.78343	0.065:0.0:0.935:0.0	.	923	Q9H694	BICC1_HUMAN	K	923	ENSP00000362993:R923K	ENSP00000362993:R923K	R	+	2	0	BICC1	60250208	1.000000	0.71417	0.988000	0.46212	0.988000	0.76386	9.731000	0.98807	1.626000	0.50381	0.655000	0.94253	AGG		0.408	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	NM_025044		11	107	0	0	0	1	0	11	107				
SATB2	23314	broad.mit.edu	37	2	200137051	200137051	+	Silent	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:200137051C>A	ENST00000417098.1	-	11	2901	c.2085G>T	c.(2083-2085)ctG>ctT	p.L695L	SATB2_ENST00000260926.5_Silent_p.L695L|SATB2_ENST00000457245.1_Silent_p.L695L|SATB2_ENST00000443023.1_Silent_p.L636L|SATB2_ENST00000428695.1_Silent_p.L577L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	695					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGACTCGGTCAGCAGCTCCT	0.577																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(1906-1908)ctG>ctT		SATB homeobox 2							136.0	124.0	128.0					2																	200137051		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200137051C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.2085G>T	2.37:g.200137051C>A						SATB2_ENST00000428695.1_Silent_p.L577L|SATB2_ENST00000417098.1_Silent_p.L695L|SATB2_ENST00000260926.5_Silent_p.L695L|SATB2_ENST00000457245.1_Silent_p.L695L	p.L636L			Q9UPW6	SATB2_HUMAN			10	3373	-			695					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1908G>T	CCDS2327.1																																																																																				0.577	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		18	115	1	0	1.33834e-09	1	1.4781e-09	18	115				
DHX35	60625	broad.mit.edu	37	20	37657063	37657063	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:37657063G>T	ENST00000252011.3	+	19	1837	c.1804G>T	c.(1804-1806)Gac>Tac	p.D602Y	DHX35_ENST00000373323.4_Missense_Mutation_p.D571Y|DHX35_ENST00000373325.2_Missense_Mutation_p.D602Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	602					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTATGTAGGTGACCCGGATCT	0.552																																						ENST00000252011.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(1804-1806)Gac>Tac		DEAH (Asp-Glu-Ala-His) box polypeptide 35							181.0	166.0	171.0					20																	37657063		2203	4300	6503	SO:0001583	missense	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37657063G>T	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.1804G>T	20.37:g.37657063G>T	ENSP00000252011:p.Asp602Tyr					DHX35_ENST00000373323.4_Missense_Mutation_p.D571Y|DHX35_ENST00000373325.2_Missense_Mutation_p.D602Y	p.D602Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN			19	1837	+		Myeloproliferative disorder(115;0.00878)	602					A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Missense_Mutation	SNP	ENST00000252011.3	37	c.1804G>T	CCDS13310.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629471	0.67015	.	.	ENSG00000101452	ENST00000373325;ENST00000252011;ENST00000373323;ENST00000373321;ENST00000449559	T;T;T;T	0.36878	3.85;4.12;4.12;1.23	5.37	5.37	0.77165	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.56381	0.1981	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79784	0.983;0.993	T	0.57300	-0.7835	10	0.87932	D	0	.	18.26	0.90031	0.0:0.0:1.0:0.0	.	571;602	F5GXM6;Q9H5Z1	.;DHX35_HUMAN	Y	602;602;571;82;66	ENSP00000362422:D602Y;ENSP00000252011:D602Y;ENSP00000362420:D571Y;ENSP00000397997:D66Y	ENSP00000252011:D602Y	D	+	1	0	DHX35	37090477	1.000000	0.71417	1.000000	0.80357	0.310000	0.27922	8.712000	0.91403	2.665000	0.90641	0.655000	0.94253	GAC		0.552	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	NM_021931		33	114	1	0	4.16155e-14	1	4.84126e-14	33	114				
ACAN	176	broad.mit.edu	37	15	89417256	89417256	+	Splice_Site	SNP	G	G	C	rs553161065		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:89417256G>C	ENST00000561243.1	+	16	7516		c.e16+1		ACAN_ENST00000439576.2_Splice_Site|ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron			P16112	PGCA_HUMAN	aggrecan						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCACAGACCGTGAGCATCAC	0.657																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.e17+1		aggrecan							34.0	43.0	40.0					15																	89417256		2167	4259	6426	SO:0001630	splice_region_variant	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89417256G>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.7516+1G>C	15.37:g.89417256G>C						ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Splice_Site		NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		17	7890	+	Lung NSC(78;0.0392)|all_lung(78;0.077)							Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Splice_Site	SNP	ENST00000561243.1	37		CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155594	0.38021	.	.	ENSG00000157766	ENST00000439576;ENST00000268134	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6554	0.88176	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACAN	87218260	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	9.504000	0.97986	2.407000	0.81776	0.655000	0.94253	.		0.657	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	Intron	4	52	0	0	0	1	0	4	52				
LMNTD2	256329	broad.mit.edu	37	11	555112	555112	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:555112C>A	ENST00000329451.3	-	14	1836		c.e14-1		RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN												NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCGGCACACCTGGGGGGCGC	0.751																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.e14-1		chromosome 11 open reading frame 35							6.0	7.0	7.0					11																	555112		1767	3552	5319	SO:0001630	splice_region_variant	256329							g.chr11:555112C>A																												ENST00000329451.3:c.1774-1G>T	11.37:g.555112C>A								NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	14	1836	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)							Splice_Site	SNP	ENST00000329451.3	37		CCDS7701.1	.	.	.	.	.	.	.	.	.	.	c	9.404	1.078792	0.20227	.	.	ENSG00000185522	ENST00000329451	.	.	.	4.04	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1185	0.14849	0.203:0.6878:0.0:0.1091	.	.	.	.	.	-1	.	.	.	-	.	.	C11orf35	545112	0.995000	0.38212	0.993000	0.49108	0.335000	0.28730	2.037000	0.41174	0.500000	0.27991	-0.311000	0.09066	.		0.751	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2		Intron	8	19	1	0	5.18039e-06	1	5.52892e-06	8	19				
CNTN4	152330	broad.mit.edu	37	3	3084693	3084693	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr3:3084693A>T	ENST00000397461.1	+	21	2928	c.2544A>T	c.(2542-2544)gaA>gaT	p.E848D	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520D|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848D|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520D|CNTN4_ENST00000358480.3_Missense_Mutation_p.E629D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	848	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACAAAGAAGAAAATGCTAGAA	0.353																																						ENST00000397461.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(2542-2544)gaA>gaT		contactin 4							83.0	78.0	80.0					3																	3084693		2203	4300	6503	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3084693A>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2544A>T	3.37:g.3084693A>T	ENSP00000380602:p.Glu848Asp					CNTN4_ENST00000358480.3_Missense_Mutation_p.E629D|CNTN4_ENST00000448906.2_Missense_Mutation_p.E520D|CNTN4_ENST00000397459.2_Missense_Mutation_p.E520D|CNTN4_ENST00000418658.1_Missense_Mutation_p.E848D|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.E848D	p.E848D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	21	2928	+		Ovarian(110;0.156)	848			Fibronectin type-III 3.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.2544A>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.676442	0.47886	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57	5.03	0.935	0.19483	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058645	0.64402	D	0.000002	T	0.29158	0.0725	N	0.13352	0.335	0.34608	D	0.717297	B;B	0.10296	0.001;0.003	B;B	0.17098	0.017;0.013	T	0.19321	-1.0309	9	.	.	.	.	7.9418	0.29963	0.5128:0.0:0.4872:0.0	.	847;848	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	D	848;848;848;629;520;520	ENSP00000396010:E848D;ENSP00000380602:E848D;ENSP00000413642:E848D;ENSP00000351267:E629D;ENSP00000380600:E520D;ENSP00000392077:E520D	.	E	+	3	2	CNTN4	3059693	0.487000	0.25988	1.000000	0.80357	0.994000	0.84299	-0.356000	0.07661	0.345000	0.23873	0.533000	0.62120	GAA		0.353	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			4	42	0	0	0	1	0	4	42				
PHACTR2	9749	broad.mit.edu	37	6	144033316	144033316	+	Silent	SNP	G	G	A	rs201524736	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:144033316G>A	ENST00000427704.2	+	2	307	c.177G>A	c.(175-177)tcG>tcA	p.S59S	PHACTR2_ENST00000397980.3_Silent_p.S70S|PHACTR2_ENST00000367582.3_Silent_p.S70S|PHACTR2_ENST00000367584.4_Silent_p.S127S|PHACTR2_ENST00000305766.6_Silent_p.S59S|PHACTR2_ENST00000440869.2_Silent_p.S70S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	59							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GAGAAACCTCGGCAGGTATGA	0.348																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(175-177)tcG>tcA		phosphatase and actin regulator 2							73.0	71.0	72.0					6																	144033316		1801	4061	5862	SO:0001819	synonymous_variant	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144033316G>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.177G>A	6.37:g.144033316G>A						PHACTR2_ENST00000305766.6_Silent_p.S59S|PHACTR2_ENST00000397980.3_Silent_p.S70S|PHACTR2_ENST00000440869.2_Silent_p.S70S|PHACTR2_ENST00000367582.3_Silent_p.S70S|PHACTR2_ENST00000367584.4_Silent_p.S127S	p.S59S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	2	307	+			59					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Silent	SNP	ENST00000427704.2	37	c.177G>A	CCDS47492.1																																																																																				0.348	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		25	66	0	0	0	1	0	25	66				
DCHS2	54798	broad.mit.edu	37	4	155157664	155157664	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr4:155157664A>G	ENST00000357232.4	-	25	6774	c.6775T>C	c.(6775-6777)Tac>Cac	p.Y2259H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2259	Cadherin 20. {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)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTTCTAAGTAAAAATGTCCC	0.383																																						ENST00000357232.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176						c.(6775-6777)Tac>Cac		dachsous cadherin-related 2							92.0	98.0	96.0					4																	155157664		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155157664A>G	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6775T>C	4.37:g.155157664A>G	ENSP00000349768:p.Tyr2259His						p.Y2259H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	25	6774	-	all_hematologic(180;0.208)	Renal(120;0.0854)	2259			Cadherin 20.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.6775T>C	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	A	2.553	-0.303650	0.05495	.	.	ENSG00000197410	ENST00000357232	T	0.51071	0.72	5.64	0.603	0.17541	Cadherin (4);Cadherin-like (1);	1.582570	0.03343	N	0.195064	T	0.25269	0.0614	N	0.04148	-0.265	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14587	-1.0467	10	0.19147	T	0.46	.	6.3809	0.21533	0.3724:0.1149:0.5127:0.0	.	2259	Q6V1P9	PCD23_HUMAN	H	2259	ENSP00000349768:Y2259H	ENSP00000349768:Y2259H	Y	-	1	0	DCHS2	155377114	0.000000	0.05858	0.004000	0.12327	0.817000	0.46193	-0.249000	0.08842	0.008000	0.14787	0.460000	0.39030	TAC		0.383	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		7	115	0	0	0	1	0	7	115				
STAT5A	6776	broad.mit.edu	37	17	40458300	40458300	+	Silent	SNP	G	G	T	rs141500114		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:40458300G>T	ENST00000345506.4	+	14	2157	c.1515G>T	c.(1513-1515)ccG>ccT	p.P505P	STAT5A_ENST00000546010.2_Silent_p.P475P|STAT5A_ENST00000587646.1_5'UTR|STAT5A_ENST00000590949.1_Silent_p.P505P|STAT5A_ENST00000452307.2_Silent_p.P505P|STAT5A_ENST00000588868.1_Silent_p.P474P	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	505					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGCTGTGGCCGCAGCTGTGTG	0.547																																						ENST00000345506.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(1513-1515)ccG>ccT		signal transducer and activator of transcription 5A							100.0	87.0	91.0					17																	40458300		2203	4300	6503	SO:0001819	synonymous_variant	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40458300G>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1515G>T	17.37:g.40458300G>T						STAT5A_ENST00000588868.1_Silent_p.P474P|STAT5A_ENST00000546010.2_Silent_p.P475P|STAT5A_ENST00000587646.1_5'UTR|STAT5A_ENST00000590949.1_Silent_p.P505P|STAT5A_ENST00000452307.2_Silent_p.P505P	p.P505P	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	14	2157	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	505					Q1KLZ6	Silent	SNP	ENST00000345506.4	37	c.1515G>T	CCDS11424.1																																																																																				0.547	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		20	61	1	0	7.92952e-12	1	8.956e-12	20	61				
UBFD1	56061	broad.mit.edu	37	16	23574002	23574002	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:23574002G>A	ENST00000395878.3	+	5	1068	c.687G>A	c.(685-687)gtG>gtA	p.V229V	UBFD1_ENST00000219638.4_Silent_p.V453V|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000567212.1_Silent_p.V220V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	229							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GAGGAAAAGTGAGACTCACCT	0.527																																					Melanoma(22;290 1069 22358 48158)	ENST00000395878.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(685-687)gtG>gtA		ubiquitin family domain containing 1							69.0	74.0	72.0					16																	23574002		2133	4241	6374	SO:0001819	synonymous_variant	56061							g.chr16:23574002G>A	AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.687G>A	16.37:g.23574002G>A						UBFD1_ENST00000567212.1_Silent_p.V220V|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.V453V	p.V229V	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN		GBM - Glioblastoma multiforme(48;0.0331)	5	1068	+			229					A8MW58|D3DWF2	Silent	SNP	ENST00000395878.3	37	c.687G>A	CCDS10613.2																																																																																				0.527	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250795.2	NM_019116		24	63	0	0	0	1	0	24	63				
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	A	rs28934575|rs397516437		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:7577548C>A	ENST00000269305.4	-	7	922	c.733G>T	c.(733-735)Ggc>Tgc	p.G245C	TP53_ENST00000420246.2_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Tgc	Other conserved DNA damage response genes	tumor protein p53							149.0	112.0	125.0					17																	7577548		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>T	17.37:g.7577548C>A	ENSP00000269305:p.Gly245Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.G245C|TP53_ENST00000269305.4_Missense_Mutation_p.G245C|TP53_ENST00000413465.2_Missense_Mutation_p.G245C|TP53_ENST00000445888.2_Missense_Mutation_p.G245C|TP53_ENST00000455263.2_Missense_Mutation_p.G245C	p.G245C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579580	0.86645	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99901	-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65;-7.65	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96045	0.9027	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245C;ENSP00000352610:G245C;ENSP00000269305:G245C;ENSP00000398846:G245C;ENSP00000391127:G245C;ENSP00000391478:G245C;ENSP00000425104:G113C;ENSP00000423862:G152C	ENSP00000269305:G245C	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		33	46	1	0	1.36615e-20	1	1.64409e-20	33	46				
PTPN21	11099	broad.mit.edu	37	14	88938785	88938785	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr14:88938785C>T	ENST00000556564.1	-	15	2958	c.2674G>A	c.(2674-2676)Gaa>Aaa	p.E892K	PTPN21_ENST00000328736.3_Missense_Mutation_p.E892K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	892					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATTCCTTGTTCTAATCGTTGT	0.368																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2674-2676)Gaa>Aaa		protein tyrosine phosphatase, non-receptor type 21							100.0	89.0	93.0					14																	88938785		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88938785C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2674G>A	14.37:g.88938785C>T	ENSP00000452414:p.Glu892Lys					PTPN21_ENST00000328736.3_Missense_Mutation_p.E892K	p.E892K	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			15	2958	-			892						Missense_Mutation	SNP	ENST00000556564.1	37	c.2674G>A	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	36	5.932477	0.97116	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.14022	2.54;2.54	5.86	5.86	0.93980	.	0.053037	0.85682	D	0.000000	T	0.36220	0.0959	M	0.80183	2.485	0.58432	D	0.999995	D	0.62365	0.991	P	0.54759	0.76	T	0.05920	-1.0856	10	0.52906	T	0.07	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	892	Q16825	PTN21_HUMAN	K	892	ENSP00000330276:E892K;ENSP00000452414:E892K	ENSP00000330276:E892K	E	-	1	0	PTPN21	88008538	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.776000	0.95493	0.655000	0.94253	GAA		0.368	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			12	36	0	0	0	1	0	12	36				
HMCN1	83872	broad.mit.edu	37	1	186158649	186158649	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:186158649G>T	ENST00000271588.4	+	107	16776	c.16547G>T	c.(16546-16548)tGc>tTc	p.C5516F	HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5516					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTAGGTTCTGCCTCAAGAAC	0.428																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(16546-16548)tGc>tTc		hemicentin 1							95.0	87.0	90.0					1																	186158649		2176	4266	6442	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186158649G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16547G>T	1.37:g.186158649G>T	ENSP00000271588:p.Cys5516Phe					HMCN1_ENST00000367492.2_Missense_Mutation_p.C5399F	p.C5516F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			107	16776	+			5516					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.16547G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.581139	0.86748	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	D;D;D	0.99914	-7.98;-7.98;-7.98	5.75	5.75	0.90469	Growth factor, receptor (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.99926	0.9966	M	0.86178	2.8	0.52501	D	0.99995	D	0.76494	0.999	D	0.85130	0.997	D	0.96179	0.9129	10	0.66056	D	0.02	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	5516	Q96RW7	HMCN1_HUMAN	F	5516;5399;191	ENSP00000271588:C5516F;ENSP00000356462:C5399F;ENSP00000406205:C191F	ENSP00000271588:C5516F	C	+	2	0	HMCN1	184425272	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.765000	0.98953	2.716000	0.92895	0.655000	0.94253	TGC		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		29	83	1	0	5.77227e-19	1	6.8755e-19	29	83				
XKR7	343702	broad.mit.edu	37	20	30556151	30556151	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr20:30556151G>T	ENST00000562532.2	+	1	347	c.173G>T	c.(172-174)tGc>tTc	p.C58F		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	58						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CGGGACTGCTGCTGGGTGCTG	0.751																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(172-174)tGc>tTc		XK, Kell blood group complex subunit-related family, member 7							40.0	36.0	37.0					20																	30556151		2202	4300	6502	SO:0001583	missense	343702					integral to membrane		g.chr20:30556151G>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.173G>T	20.37:g.30556151G>T	ENSP00000477059:p.Cys58Phe						p.C58F	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		1	347	+			58					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.173G>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882581	0.51908	.	.	ENSG00000101321	ENST00000217299	T	0.61158	0.13	3.06	3.06	0.35304	.	0.000000	0.64402	U	0.000003	T	0.62295	0.2416	L	0.43923	1.385	0.43874	D	0.996485	D	0.89917	1.0	D	0.91635	0.999	T	0.57700	-0.7766	10	0.25751	T	0.34	-3.7578	7.5628	0.27862	0.0:0.0:0.7451:0.2549	.	58	Q5GH72	XKR7_HUMAN	F	58	ENSP00000217299:C58F	ENSP00000217299:C58F	C	+	2	0	XKR7	30019812	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.263000	0.18478	1.709000	0.51313	0.637000	0.83480	TGC		0.751	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		9	30	1	0	0.00448238	1	0.00460103	9	30				
SYCP1	6847	broad.mit.edu	37	1	115438112	115438112	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:115438112A>G	ENST00000369522.3	+	16	1542	c.1302A>G	c.(1300-1302)gaA>gaG	p.E434E	SYCP1_ENST00000369518.1_Silent_p.E434E	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	434					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGAACTTGAAGAATTGAAAA	0.274																																						ENST00000369522.3																		RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1300-1302)gaA>gaG		synaptonemal complex protein 1							26.0	25.0	26.0					1																	115438112		2153	4252	6405	SO:0001819	synonymous_variant	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115438112A>G	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1302A>G	1.37:g.115438112A>G						SYCP1_ENST00000369518.1_Silent_p.E434E	p.E434E	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	1542	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	434					O14963|Q5VXJ6	Silent	SNP	ENST00000369522.3	37	c.1302A>G	CCDS879.1																																																																																				0.274	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	NM_003176		8	16	0	0	0	1	0	8	16				
DDX25	29118	broad.mit.edu	37	11	125780305	125780305	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:125780305G>A	ENST00000263576.6	+	7	709	c.554G>A	c.(553-555)cGt>cAt	p.R185H	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	185	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		CAAACTGGCCGTGTGGTTGAG	0.478																																						ENST00000263576.6																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(553-555)cGt>cAt		DEAD (Asp-Glu-Ala-Asp) box helicase 25							219.0	209.0	212.0					11																	125780305		1944	4148	6092	SO:0001583	missense	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780305G>A	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.554G>A	11.37:g.125780305G>A	ENSP00000263576:p.Arg185His					RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	p.R185H	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	7	709	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	185			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Missense_Mutation	SNP	ENST00000263576.6	37	c.554G>A	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485886	0.44147	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	T	0.15834	2.39	5.81	2.93	0.34026	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.379658	0.28140	N	0.016459	T	0.12050	0.0293	L	0.28400	0.85	0.35044	D	0.75999	B;B	0.18863	0.031;0.031	B;B	0.12156	0.007;0.007	T	0.08911	-1.0699	10	0.66056	D	0.02	-36.3473	8.2339	0.31614	0.3628:0.0:0.6372:0.0	.	185;185	B4DHI6;Q9UHL0	.;DDX25_HUMAN	H	71;185;71	ENSP00000263576:R185H	ENSP00000263576:R185H	R	+	2	0	DDX25	125285515	0.000000	0.05858	0.999000	0.59377	0.996000	0.88848	1.117000	0.31234	0.796000	0.33947	0.650000	0.86243	CGT		0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		4	113	0	0	0	1	0	4	113				
ZNF804B	219578	broad.mit.edu	37	7	88964416	88964416	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:88964416G>A	ENST00000333190.4	+	4	2729	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	707							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGTTTGAGTAGATATTCTTCC	0.408										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2119-2121)aGa>aAa		zinc finger protein 804B							90.0	91.0	91.0					7																	88964416		2203	4300	6503	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964416G>A	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2120G>A	7.37:g.88964416G>A	ENSP00000329638:p.Arg707Lys	HNSCC(36;0.09)					p.R707K	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2729	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		707					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2120G>A	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	2.358	-0.347322	0.05208	.	.	ENSG00000182348	ENST00000333190	T	0.05649	3.41	4.65	0.685	0.18009	.	0.522760	0.18763	N	0.131827	T	0.04770	0.0129	L	0.32530	0.975	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.36138	-0.9760	10	0.39692	T	0.17	-0.2666	6.4354	0.21821	0.159:0.2919:0.5492:0.0	.	707	A4D1E1	Z804B_HUMAN	K	707	ENSP00000329638:R707K	ENSP00000329638:R707K	R	+	2	0	ZNF804B	88802352	0.006000	0.16342	0.000000	0.03702	0.001000	0.01503	0.888000	0.28268	-0.049000	0.13379	0.555000	0.69702	AGA		0.408	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		21	59	0	0	0	1	0	21	59				
SRFBP1	153443	broad.mit.edu	37	5	121356179	121356179	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:121356179G>C	ENST00000339397.4	+	6	821	c.749G>C	c.(748-750)gGa>gCa	p.G250A		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AGTGATGGCGGAGAAGAATTT	0.413																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(748-750)gGa>gCa		serum response factor binding protein 1							126.0	112.0	117.0					5																	121356179		1855	4098	5953	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356179G>C	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.749G>C	5.37:g.121356179G>C	ENSP00000341324:p.Gly250Ala						p.G250A	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	821	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	250						Missense_Mutation	SNP	ENST00000339397.4	37	c.749G>C	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	G	3.227	-0.158260	0.06544	.	.	ENSG00000151304	ENST00000339397	.	.	.	2.87	-0.0837	0.13693	.	1.547960	0.03588	N	0.231347	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.29037	0.231	B	0.22386	0.039	T	0.13308	-1.0514	9	0.10111	T	0.7	-2.2807	2.168	0.03842	0.5821:0.0:0.1699:0.248	.	250	Q8NEF9	SRFB1_HUMAN	A	250	.	ENSP00000341324:G250A	G	+	2	0	SRFBP1	121384078	0.000000	0.05858	0.041000	0.18516	0.286000	0.27126	0.024000	0.13555	0.210000	0.20664	-0.373000	0.07131	GGA		0.413	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		47	97	0	0	0	1	0	47	97				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		9	1156	0	0	0	1	0	9	1156				
PPL	5493	broad.mit.edu	37	16	4934828	4934828	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:4934828G>C	ENST00000345988.2	-	22	3917	c.3828C>G	c.(3826-3828)atC>atG	p.I1276M	PPL_ENST00000590782.2_Missense_Mutation_p.I1274M	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1276					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCAGGGCCTGGATTTCCTTTT	0.522																																						ENST00000345988.2																			0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3826-3828)atC>atG		periplakin							179.0	180.0	179.0					16																	4934828		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4934828G>C	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3828C>G	16.37:g.4934828G>C	ENSP00000340510:p.Ile1276Met					PPL_ENST00000590782.2_Missense_Mutation_p.I1274M	p.I1276M	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN			22	3917	-			1276					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3828C>G	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788787	0.31685	.	.	ENSG00000118898	ENST00000345988	T	0.41400	1.0	5.63	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.54111	0.1838	M	0.62723	1.935	0.44337	D	0.997229	D	0.89917	1.0	D	0.85130	0.997	T	0.52275	-0.8597	10	0.56958	D	0.05	.	5.1024	0.14766	0.2082:0.0:0.5399:0.2519	.	1276	O60437	PEPL_HUMAN	M	1276	ENSP00000340510:I1276M	ENSP00000340510:I1276M	I	-	3	3	PPL	4874829	0.945000	0.32115	1.000000	0.80357	0.989000	0.77384	0.063000	0.14410	0.759000	0.33084	0.655000	0.94253	ATC		0.522	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	NM_002705		58	192	0	0	0	1	0	58	192				
POP4	10775	broad.mit.edu	37	19	30102828	30102828	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:30102828G>T	ENST00000585603.1	+	4	2646	c.344G>T	c.(343-345)aGt>aTt	p.S115I	POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.S34I|POP4_ENST00000221770.3_5'UTR			O95707	RPP29_HUMAN	processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)	115					mRNA cleavage (GO:0006379)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)|ribonuclease P complex (GO:0030677)	ribonuclease P activity (GO:0004526)|ribonuclease P RNA binding (GO:0033204)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(4)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			GACCTGTGCAGTGGGCTCAAG	0.488																																					Melanoma(89;1165 1449 14085 34436 43672)	ENST00000585603.1																			0				breast(1)|endometrium(1)|lung(4)	6						c.(343-345)aGt>aTt		processing of precursor 4, ribonuclease P/MRP subunit (S. cerevisiae)							139.0	125.0	130.0					19																	30102828		2203	4300	6503	SO:0001583	missense	10775				mRNA cleavage|rRNA processing|tRNA processing	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease P activity|RNA binding	g.chr19:30102828G>T	BC006098	CCDS12416.1	19q13.11	2012-05-21				ENSG00000105171			30081	protein-coding gene	gene with protein product		606114				10352175, 10024167	Standard	NM_006627		Approved	RPP29	uc002nsf.2	O95707		ENST00000585603.1:c.344G>T	19.37:g.30102828G>T	ENSP00000465213:p.Ser115Ile					POP4_ENST00000221770.3_5'UTR|POP4_ENST00000591824.1_3'UTR|POP4_ENST00000392279.3_Missense_Mutation_p.S34I	p.S115I			O95707	RPP29_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		4	2646	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		115					Q5XKL7|Q6FHW9|Q9UQQ3	Missense_Mutation	SNP	ENST00000585603.1	37	c.344G>T	CCDS12416.1	.	.	.	.	.	.	.	.	.	.	A	5.848	0.340626	0.11069	.	.	ENSG00000105171	ENST00000221770;ENST00000392279	.	.	.	5.47	2.21	0.28008	.	0.477093	0.24854	N	0.035068	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B;B	0.23316	0.014;0.083	B;B	0.20955	0.016;0.032	T	0.16394	-1.0404	9	0.36615	T	0.2	-9.4367	9.0718	0.36497	0.7111:0.0:0.2889:0.0	.	34;115	A8MYC1;O95707	.;RPP29_HUMAN	I	115;34	.	ENSP00000221770:S115I	S	+	2	0	POP4	34794668	0.165000	0.22948	0.369000	0.25952	0.005000	0.04900	1.631000	0.37092	-0.156000	0.11079	-0.982000	0.02568	AGT		0.488	POP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458710.1	NM_006627		21	76	1	0	6.21321e-17	1	7.32571e-17	21	76				
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr21:11058353T>C	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							20.0	18.0	19.0					21																	11058353		692	1589	2281			85319							g.chr21:11058353T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058353T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.343	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	161	0	0	0	1	0	6	161				
OR4C46	119749	broad.mit.edu	37	11	51515281	51515281	+	5'Flank	SNP	C	C	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:51515281C>A	ENST00000328188.1	+	0	0					NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAGAAATACATGGAGAATA	0.269																																						ENST00000328188.1																			0				endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						c.e1-1		olfactory receptor, family 4, subfamily C, member 46							94.0	91.0	92.0					11																	51515281		2201	4296	6497	SO:0001631	upstream_gene_variant	119749				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51515281C>A		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705		11.37:g.51515281C>A	Exception_encountered							NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN			1	0	+									Splice_Site	SNP	ENST00000328188.1	37		CCDS31498.1																																																																																				0.269	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703		21	60	1	0	1.28384e-07	1	1.39583e-07	21	60				
PCLO	27445	broad.mit.edu	37	7	82763692	82763692	+	Silent	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:82763692G>A	ENST00000333891.9	-	3	3511	c.3174C>T	c.(3172-3174)acC>acT	p.T1058T	PCLO_ENST00000423517.2_Silent_p.T1058T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											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						AGAGAGGACAGGTTGATTCTG	0.423																																						ENST00000423517.2																			0				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						c.(3172-3174)acC>acT		piccolo presynaptic cytomatrix protein							82.0	77.0	78.0					7																	82763692		1893	4110	6003	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82763692G>A	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.3174C>T	7.37:g.82763692G>A						PCLO_ENST00000333891.8_Silent_p.T1058T	p.T1058T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			3	3511	-			1004						Silent	SNP	ENST00000333891.9	37	c.3174C>T	CCDS47630.1																																																																																				0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		5	27	0	0	0	1	0	5	27				
RELN	5649	broad.mit.edu	37	7	103191677	103191677	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr7:103191677A>T	ENST00000428762.1	-	41	6298	c.6139T>A	c.(6139-6141)Ttc>Atc	p.F2047I	RELN_ENST00000343529.5_Missense_Mutation_p.F2047I|RELN_ENST00000424685.2_Missense_Mutation_p.F2047I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2047					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCGCCCCGAAGTCCCTTGAA	0.532																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(6139-6141)Ttc>Atc		reelin							69.0	56.0	60.0					7																	103191677		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103191677A>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6139T>A	7.37:g.103191677A>T	ENSP00000392423:p.Phe2047Ile					RELN_ENST00000343529.5_Missense_Mutation_p.F2047I|RELN_ENST00000424685.2_Missense_Mutation_p.F2047I	p.F2047I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	41	6298	-			2047					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.6139T>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234199	0.58886	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.96	5.96	0.96718	Neuraminidase (1);	0.098697	0.64402	D	0.000001	T	0.24586	0.0596	M	0.65975	2.015	0.47308	D	0.999387	B;B	0.20164	0.042;0.02	B;B	0.17433	0.018;0.005	T	0.03202	-1.1061	10	0.48119	T	0.1	.	11.0241	0.47734	0.9227:0.0:0.0773:0.0	.	2047;2047	P78509-2;P78509	.;RELN_HUMAN	I	2047	ENSP00000392423:F2047I;ENSP00000345694:F2047I;ENSP00000388446:F2047I	ENSP00000345694:F2047I	F	-	1	0	RELN	102978913	1.000000	0.71417	0.995000	0.50966	0.975000	0.68041	5.623000	0.67757	2.284000	0.76573	0.528000	0.53228	TTC		0.532	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		4	54	0	0	0	1	0	4	54				
SLC2A1	6513	broad.mit.edu	37	1	43395268	43395268	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:43395268T>C	ENST00000426263.3	-	6	1041	c.863A>G	c.(862-864)aAc>aGc	p.N288S	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	288	Monosaccharide binding.				carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ACTCACAGCGTTGATGCCAGA	0.602																																						ENST00000426263.3																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13						c.(862-864)aAc>aGc		solute carrier family 2 (facilitated glucose transporter), member 1	Etomidate(DB00292)						48.0	48.0	48.0					1																	43395268		2203	4300	6503	SO:0001583	missense	6513				carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr1:43395268T>C	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.863A>G	1.37:g.43395268T>C	ENSP00000416293:p.Asn288Ser					SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	p.N288S	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN			6	1041	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)	288					A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	c.863A>G	CCDS477.1	.	.	.	.	.	.	.	.	.	.	T	19.41	3.822192	0.71028	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	D;D	0.82526	-1.62;-1.62	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.041245	0.85682	D	0.000000	D	0.91791	0.7403	H	0.94423	3.535	0.80722	D	1	D	0.56287	0.975	P	0.57283	0.817	D	0.93632	0.6957	10	0.72032	D	0.01	.	12.9241	0.58249	0.0:0.0:0.0:1.0	.	288	P11166	GTR1_HUMAN	S	288;288;230;193	ENSP00000416293:N288S;ENSP00000395521:N193S	ENSP00000361579:N288S	N	-	2	0	SLC2A1	43167855	1.000000	0.71417	0.933000	0.37362	0.599000	0.36880	8.040000	0.89188	1.939000	0.56221	0.454000	0.30748	AAC		0.602	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516		15	30	0	0	0	1	0	15	30				
WASF3	10810	broad.mit.edu	37	13	27239176	27239176	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr13:27239176G>A	ENST00000335327.5	+	4	323	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	WASF3_ENST00000361042.4_Missense_Mutation_p.E49K|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	49					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAAACATGCTGAAGACATATT	0.433																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(145-147)Gaa>Aaa		WAS protein family, member 3							104.0	97.0	99.0					13																	27239176		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27239176G>A	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.145G>A	13.37:g.27239176G>A	ENSP00000335055:p.Glu49Lys					WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.E49K	p.E49K			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	4	370	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	49					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.145G>A	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.473999	0.96291	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.67345	-0.26;-0.26	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.86016	0.5832	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	D	0.88126	0.2835	10	0.72032	D	0.01	-33.6981	19.6999	0.96048	0.0:0.0:1.0:0.0	.	49;49	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	K	49	ENSP00000354325:E49K;ENSP00000335055:E49K	ENSP00000335055:E49K	E	+	1	0	WASF3	26137176	1.000000	0.71417	0.975000	0.42487	0.991000	0.79684	9.258000	0.95555	2.659000	0.90383	0.650000	0.86243	GAA		0.433	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			15	37	0	0	0	1	0	15	37				
ZSCAN5B	342933	broad.mit.edu	37	19	56704314	56704314	+	Silent	SNP	G	G	A	rs200257976		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:56704314G>A	ENST00000586855.2	-	2	421	c.108C>T	c.(106-108)caC>caT	p.H36H	ZSCAN5B_ENST00000358992.3_Silent_p.H36H			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	36					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTTCCTGTCGTGATTTCCAA	0.562																																						ENST00000586855.2																			0				breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(106-108)caC>caT		zinc finger and SCAN domain containing 5B							40.0	39.0	39.0					19																	56704314		2203	4300	6503	SO:0001819	synonymous_variant	342933				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:56704314G>A		CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.108C>T	19.37:g.56704314G>A						ZSCAN5B_ENST00000358992.3_Silent_p.H36H	p.H36H			A6NJL1	ZSA5B_HUMAN			2	421	-			36						Silent	SNP	ENST00000586855.2	37	c.108C>T	CCDS46203.1																																																																																				0.562	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457834.2	NM_001080456		8	40	0	0	0	1	0	8	40				
MYH10	4628	broad.mit.edu	37	17	8402701	8402701	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:8402701C>G	ENST00000269243.4	-	28	3883	c.3745G>C	c.(3745-3747)Gag>Cag	p.E1249Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E1280Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1265Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1270Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1249					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCTCAGACTCAGCCTTGACC	0.567																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(3838-3840)Gag>Cag		myosin, heavy chain 10, non-muscle							158.0	139.0	146.0					17																	8402701		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8402701C>G	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3745G>C	17.37:g.8402701C>G	ENSP00000269243:p.Glu1249Gln					MYH10_ENST00000396239.1_Missense_Mutation_p.E1270Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1265Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1249Q	p.E1280Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			30	3976	-			1249					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.3838G>C	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876932	0.91664	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.03	4.03	0.46877	Myosin tail (1);	0.050137	0.85682	N	0.000000	D	0.88555	0.6468	M	0.64404	1.975	0.58432	D	0.999999	D;D;D	0.57257	0.979;0.974;0.979	P;P;P	0.62740	0.906;0.848;0.906	D	0.89801	0.3975	10	0.72032	D	0.01	.	15.3305	0.74203	0.0:0.8598:0.1402:0.0	.	1258;1280;1249	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	1249;1280;1270;1265	ENSP00000269243:E1249Q;ENSP00000353590:E1280Q;ENSP00000379539:E1270Q;ENSP00000369315:E1265Q	ENSP00000269243:E1249Q	E	-	1	0	MYH10	8343426	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.651000	0.83577	1.288000	0.44600	0.655000	0.94253	GAG		0.567	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			43	58	0	0	0	1	0	43	58				
CPS1	1373	broad.mit.edu	37	2	211464276	211464276	+	Silent	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:211464276C>T	ENST00000233072.5	+	14	1736	c.1540C>T	c.(1540-1542)Ctg>Ttg	p.L514L	CPS1_ENST00000451903.2_Silent_p.L63L|CPS1_ENST00000430249.2_Silent_p.L520L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	514					anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	CCAGACAGCTCTGAACTGTGG	0.428																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(1540-1542)Ctg>Ttg		carbamoyl-phosphate synthase 1, mitochondrial							113.0	116.0	115.0					2																	211464276		2203	4300	6503	SO:0001819	synonymous_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211464276C>T	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1540C>T	2.37:g.211464276C>T						CPS1_ENST00000451903.2_Silent_p.L63L|CPS1_ENST00000430249.2_Silent_p.L520L	p.L514L	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	14	1736	+			514					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	ENST00000233072.5	37	c.1540C>T	CCDS2393.1																																																																																				0.428	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5			25	85	0	0	0	1	0	25	85				
NXF5	55998	broad.mit.edu	37	X	101096680	101096680	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chrX:101096680A>G	ENST00000361708.2	-	5	565	c.206T>C	c.(205-207)gTc>gCc	p.V69A	NXF5_ENST00000537026.1_Missense_Mutation_p.V69A|NXF5_ENST00000473265.2_Missense_Mutation_p.V69A			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	69	RRM.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CTTATAACTGACATCCTTCAA	0.498																																						ENST00000537026.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(205-207)gTc>gCc		nuclear RNA export factor 5							167.0	139.0	148.0					X																	101096680		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101096680A>G	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.206T>C	X.37:g.101096680A>G	ENSP00000355286:p.Val69Ala					NXF5_ENST00000361708.2_Missense_Mutation_p.V69A|NXF5_ENST00000473265.2_Missense_Mutation_p.V69A	p.V69A	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN			5	565	-			69			RRM.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.206T>C		.	.	.	.	.	.	.	.	.	.	.	11.99	1.804831	0.31961	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.56611	0.45;0.45;0.45	2.18	2.18	0.27775	.	0.611035	0.15783	N	0.244815	T	0.60881	0.2303	M	0.74389	2.26	0.09310	N	1	P	0.43973	0.823	P	0.54174	0.744	T	0.50021	-0.8876	10	0.49607	T	0.09	.	5.8032	0.18426	1.0:0.0:0.0:0.0	.	69	A2RRM0	.	A	69	ENSP00000442401:V69A;ENSP00000426978:V69A;ENSP00000355286:V69A	ENSP00000263032:V69A	V	-	2	0	NXF5	100983336	0.024000	0.19004	0.001000	0.08648	0.006000	0.05464	2.676000	0.46883	1.153000	0.42468	0.328000	0.21473	GTC		0.498	NXF5-201	KNOWN	basic	protein_coding	protein_coding				8	158	0	0	0	1	0	8	158				
TAS1R3	83756	broad.mit.edu	37	1	1267740	1267740	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:1267740G>A	ENST00000339381.5	+	3	861	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	277					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GTTCGCCTCCGTGCACGCCGC	0.672																																						ENST00000339381.5																			0				kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(829-831)Gtg>Atg		taste receptor, type 1, member 3	Aspartame(DB00168)						26.0	21.0	23.0					1																	1267740		2194	4286	6480	SO:0001583	missense	83756				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:1267740G>A	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.829G>A	1.37:g.1267740G>A	ENSP00000344411:p.Val277Met						p.V277M	NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	3	861	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	277					Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	c.829G>A	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	G	4.926	0.172033	0.09391	.	.	ENSG00000169962	ENST00000339381	D	0.82803	-1.65	4.6	-0.959	0.10343	Extracellular ligand-binding receptor (1);	2.777580	0.01037	N	0.004257	T	0.75744	0.3891	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	P	0.51701	0.677	T	0.63871	-0.6539	10	0.56958	D	0.05	.	2.0727	0.03617	0.2672:0.3342:0.2849:0.1136	.	277	Q7RTX0	TS1R3_HUMAN	M	277	ENSP00000344411:V277M	ENSP00000344411:V277M	V	+	1	0	TAS1R3	1257603	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.365000	0.20348	-0.349000	0.08274	0.561000	0.74099	GTG		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			8	8	0	0	0	1	0	8	8				
SLC9A2	6549	broad.mit.edu	37	2	103322355	103322355	+	Silent	SNP	T	T	C			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:103322355T>C	ENST00000233969.2	+	11	2170	c.2028T>C	c.(2026-2028)ctT>ctC	p.L676L		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	676					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATACGAAGCTTCCAGAAAAGC	0.308																																						ENST00000233969.2																			0				breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(2026-2028)ctT>ctC		solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2							46.0	50.0	49.0					2																	103322355		2201	4294	6495	SO:0001819	synonymous_variant	6549					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr2:103322355T>C		CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.2028T>C	2.37:g.103322355T>C							p.L676L	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN			11	2170	+			676					B2RMS2	Silent	SNP	ENST00000233969.2	37	c.2028T>C	CCDS2062.1																																																																																				0.308	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2			32	67	0	0	0	1	0	32	67				
ZNF83	55769	broad.mit.edu	37	19	53116946	53116946	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:53116946C>T	ENST00000597597.1	-	2	3125	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	ZNF83_ENST00000301096.3_Missense_Mutation_p.C291Y|ZNF83_ENST00000541777.2_Missense_Mutation_p.C291Y|ZNF83_ENST00000391789.4_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000544146.1_Missense_Mutation_p.C291Y			P51522	ZNF83_HUMAN	zinc finger protein 83	291					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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACACTCATTACATTTGTAAGG	0.403																																						ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(871-873)tGt>tAt		zinc finger protein 83							83.0	81.0	82.0					19																	53116946		2201	4300	6501	SO:0001583	missense	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116946C>T	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.872G>A	19.37:g.53116946C>T	ENSP00000472619:p.Cys291Tyr					ZNF83_ENST00000545872.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000541777.2_Missense_Mutation_p.C291Y|ZNF83_ENST00000536937.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Missense_Mutation_p.C291Y|ZNF83_ENST00000301096.3_Missense_Mutation_p.C291Y|ZNF83_ENST00000391789.4_Intron	p.C291Y			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3125	-			291					A8MT75|Q3ZCX0|Q6PI08	Missense_Mutation	SNP	ENST00000597597.1	37	c.872G>A	CCDS12854.1	.	.	.	.	.	.	.	.	.	.	c	13.26	2.184336	0.38609	.	.	ENSG00000167766	ENST00000536937;ENST00000301096;ENST00000544146;ENST00000545872;ENST00000541777	D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94	1.63	0.565	0.17309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92208	0.7529	H	0.96518	3.835	0.80722	D	1	D	0.71674	0.998	P	0.59825	0.864	D	0.90427	0.4421	9	0.87932	D	0	.	7.3525	0.26700	0.0:0.844:0.0:0.156	.	291	P51522	ZNF83_HUMAN	Y	291	ENSP00000445993:C291Y;ENSP00000301096:C291Y;ENSP00000445470:C291Y;ENSP00000440713:C291Y;ENSP00000439681:C291Y	ENSP00000301096:C291Y	C	-	2	0	ZNF83	57808758	1.000000	0.71417	0.006000	0.13384	0.028000	0.11728	6.340000	0.72973	0.238000	0.21222	0.404000	0.27445	TGT		0.403	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		15	212	0	0	0	1	0	15	212				
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	GGC	-	rs71929261|rs140531536	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr1:240255569_240255571delGGC	ENST00000319653.9	+	1	390_392	c.160_162delGGC	c.(160-162)ggcdel	p.G59del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	59					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G197delG(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GGGGGGAgggggcggcggcggcg	0.665														3539	0.706669	0.7821	0.7507	5008	,	,		10143	0.4514		0.7893	False		,,,				2504	0.7515					ENST00000319653.9																			1	Deletion - In frame(1)	p.G197delG(1)	prostate(1)	NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178						c.(160-162)del		formin 2																																				SO:0001651	inframe_deletion	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240255569_240255571delGGC	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.160_162delGGC	1.37:g.240255578_240255580delGGC	ENSP00000318884:p.Gly59del						p.G59del	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		1	390_392	+	Ovarian(103;0.127)	all_cancers(173;0.013)	59					B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	c.160_162delGGC	CCDS31069.2																																																																																				0.665	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		8	14						8	14	---	---	---	---
ESPNL	339768	broad.mit.edu	37	2	239013483	239013483	+	Splice_Site	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr2:239013483delG	ENST00000343063.3	+	3	935	c.672delG	c.(670-672)ctg>ct	p.L224fs	ESPNL_ENST00000409169.1_Splice_Site_p.L224fs	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	224										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TCGTCTGGCTGGTAAGTGGGT	0.667																																						ENST00000343063.3																			0				endometrium(1)|lung(8)|pancreas(2)|skin(2)	13						c.e3+1		espin-like							16.0	16.0	16.0					2																	239013483		2183	4268	6451	SO:0001630	splice_region_variant	339768							g.chr2:239013483delG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.672+1G>-	2.37:g.239013483delG						ESPNL_ENST00000409169.1_Splice_Site_p.L224_splice	p.L224_splice	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	3	935	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	224					Q66K27|Q6ZVG1|Q8IVU2	Splice_Site	DEL	ENST00000343063.3	37	c.672_splice	CCDS2525.1																																																																																				0.667	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	Frame_Shift_Del	2	4						2	4	---	---	---	---
MARCH3	115123	broad.mit.edu	37	5	126250792	126250792	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr5:126250792delG	ENST00000308660.5	-	3	737	c.223delC	c.(223-225)cacfs	p.H75fs	MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Frame_Shift_Del_p.H75fs	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	75					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CTGCCCTCGTGGCAGATCCTG	0.597																																						ENST00000308660.5																			0				large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						c.(223-225)acfs		membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase							58.0	54.0	55.0					5																	126250792		2203	4300	6503	SO:0001589	frameshift_variant	115123				endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding	g.chr5:126250792delG	AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.223delC	5.37:g.126250792delG	ENSP00000309141:p.His75fs					MARCH3_ENST00000515241.1_Frame_Shift_Del_p.H75fs|MARCH3_ENST00000502289.1_5'UTR	p.H75fs	NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)	3	737	-		Prostate(80;0.0928)	75					A8K264|B9EJE7	Frame_Shift_Del	DEL	ENST00000308660.5	37	c.223delC	CCDS4141.1																																																																																				0.597	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250955.2	NM_178450		8	26						8	26	---	---	---	---
CD2AP	23607	broad.mit.edu	37	6	47544293	47544295	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr6:47544293_47544295delCAG	ENST00000359314.5	+	7	1219_1221	c.763_765delCAG	c.(763-765)cagdel	p.Q255del		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	255					mitotic nuclear division (GO:0007067)|negative regulation of transforming growth factor beta1 production (GO:0032911)|positive regulation of protein localization to nucleus (GO:1900182)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of receptor-mediated endocytosis (GO:0048259)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|substrate-dependent cell migration, cell extension (GO:0006930)|vesicle organization (GO:0016050)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ACCCAAAACTCAGAGTGTGGAGA	0.3																																						ENST00000359314.5																			0				kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20						c.(763-765)del		CD2-associated protein																																				SO:0001651	inframe_deletion	23607				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton	g.chr6:47544293_47544295delCAG	AF146277	CCDS34472.1	6p12	2008-02-05			ENSG00000198087	ENSG00000198087			14258	protein-coding gene	gene with protein product		604241				10339567	Standard	NM_012120		Approved	CMS	uc003oyw.3	Q9Y5K6	OTTHUMG00000014799	ENST00000359314.5:c.763_765delCAG	6.37:g.47544293_47544295delCAG	ENSP00000352264:p.Gln255del						p.Q255del	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)		7	1219_1221	+			255					A6NL34|Q5VYA3|Q9UG97	In_Frame_Del	DEL	ENST00000359314.5	37	c.763_765delCAG	CCDS34472.1																																																																																				0.300	CD2AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040817.2			28	201						28	201	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21971008	21971008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr9:21971008delA	ENST00000304494.5	-	2	620	c.350delT	c.(349-351)ctgfs	p.L117fs	CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.P131fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P131fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L117fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P172fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L66fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	117			L -> M (in CMM2; somatic mutation). {ECO:0000269|PubMed:10651484}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.L117fs*29(1)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CTCCTCAGCCAGGTCCACGGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000579755.1		17																	1361	Whole gene deletion(1316)|Unknown(44)|Deletion - Frameshift(1)	p.0?(1315)|p.?(44)|p.L117fs*29(1)|p.0(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(167)|lung(145)|urinary_tract(92)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(50)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(391-393)ccfs		cyclin-dependent kinase inhibitor 2A							23.0	25.0	24.0					9																	21971008		2201	4298	6499	SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971008delA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.350delT	9.37:g.21971008delA	ENSP00000307101:p.Leu117fs	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.P172fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L66fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L117fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.P131fs	p.P131fs			P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	685	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	0					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.393delT	CCDS6510.1																																																																																				0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		18	33						18	33	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16893336	16893336	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:16893336delC	ENST00000377833.4	-	60	9626	c.9561delG	c.(9559-9561)tggfs	p.W3187fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3187	CUB 24. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAATTATGATCCATACACAGT	0.388																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(9559-9561)tgfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						124.0	116.0	119.0					10																	16893336		2203	4300	6503	SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16893336delC	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9561delG	10.37:g.16893336delC	ENSP00000367064:p.Trp3187fs						p.W3187fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			60	9626	-			3187			CUB 24.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Del	DEL	ENST00000377833.4	37	c.9561delG	CCDS7113.1																																																																																				0.388	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		26	101						26	101	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17165674	17165675	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr10:17165674_17165675insT	ENST00000377833.4	-	5	466_467	c.401_402insA	c.(400-402)aagfs	p.K134fs	CUBN_ENST00000377823.1_Frame_Shift_Ins_p.K134fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	134	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCTGCAAACCTTTTTGTCAAC	0.446																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(400-402)agtfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17165674_17165675insT	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.402dupA	10.37:g.17165679_17165679dupT	ENSP00000367064:p.Lys134fs					CUBN_ENST00000377823.1_Frame_Shift_Ins_p.S134fs	p.S134fs	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			5	466_467	-			134			EGF-like 1.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.401_402insA	CCDS7113.1																																																																																				0.446	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	30						7	30	---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409571	56409571	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:56409571delC	ENST00000302981.1	-	1	344	c.345delG	c.(343-345)gggfs	p.G115fs	OR5AP2_ENST00000544374.1_Frame_Shift_Del_p.G116fs	NM_001002925.1	NP_001002925.1	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGCACTCAGTCCCCAGGAAGG	0.512																																						ENST00000544374.1																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(346-348)ggfs		olfactory receptor, family 5, subfamily AP, member 2							60.0	64.0	63.0					11																	56409571		2201	4296	6497	SO:0001589	frameshift_variant	338675				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56409571delC	AB065854	CCDS31534.1	11q11	2012-08-09			ENSG00000172464	ENSG00000172464		"""GPCR / Class A : Olfactory receptors"""	15258	protein-coding gene	gene with protein product							Standard	NM_001002925		Approved		uc001njb.1	Q8NGF4	OTTHUMG00000166865	ENST00000302981.1:c.345delG	11.37:g.56409571delC	ENSP00000303111:p.Gly115fs					OR5AP2_ENST00000302981.1_Frame_Shift_Del_p.G115fs	p.G116fs			Q8NGF4	O5AP2_HUMAN			1	376	-			115					B2RNM8	Frame_Shift_Del	DEL	ENST00000302981.1	37	c.348delG	CCDS31534.1																																																																																				0.512	OR5AP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391613.1	NM_001002925		7	49						7	49	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61188974	61188983	+	Frame_Shift_Del	DEL	GGAGGAGGTG	GGAGGAGGTG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr11:61188974_61188983delGGAGGAGGTG	ENST00000394888.4	-	3	324_333	c.152_161delCACCTCCTCC	c.(151-162)ccacctcctcctfs	p.PPPP51fs	CPSF7_ENST00000439958.3_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000541963.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000340437.4_Frame_Shift_Del_p.PPPP94fs	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	51	Poly-Pro.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P53P(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTGGCGAACAGGAGGAGGTGGTTCAGTGCT	0.524																																						ENST00000340437.4																			1	Substitution - coding silent(1)	p.P53P(1)	kidney(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(280-291)ctfs		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001589	frameshift_variant	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61188974_61188983delGGAGGAGGTG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.152_161delCACCTCCTCC	11.37:g.61188974_61188983delGGAGGAGGTG	ENSP00000378352:p.Pro51fs					CPSF7_ENST00000541963.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000448745.1_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000394888.4_Frame_Shift_Del_p.PPPP51fs|CPSF7_ENST00000439958.3_Frame_Shift_Del_p.PPPP51fs	p.PPPP94fs	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			3	361_370	-			51			RRM.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Frame_Shift_Del	DEL	ENST00000394888.4	37	c.281_290delCACCTCCTCC	CCDS44619.1																																																																																				0.524	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		12	52						12	52	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546506	11546508	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:11546506_11546508delTTG	ENST00000389362.4	-	3	539_541	c.504_506delCAA	c.(502-507)aacaag>aag	p.N168del	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	168	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACTTCGGGACTTGTTGTCTCCTT	0.596																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(502-507)aag>aa		proline-rich protein BstNI subfamily 2																																				SO:0001651	inframe_deletion	653247							g.chr12:11546506_11546508delTTG	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.504_506delCAA	12.37:g.11546509_11546511delTTG	ENSP00000374013:p.Asn168del					PRB1_ENST00000546254.1_Intron	p.NK168del	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	539_541	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	In_Frame_Del	DEL	ENST00000389362.4	37	c.504_506delCAA	CCDS41757.2																																																																																				0.596	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		7	1048						7	1048	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99056538	99056538	+	Frame_Shift_Del	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr12:99056538delG	ENST00000551964.1	+	7	1645	c.909delG	c.(907-909)aagfs	p.K303fs	APAF1_ENST00000357310.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000552268.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K292fs|APAF1_ENST00000333991.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000339433.3_Frame_Shift_Del_p.K303fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K292fs	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	303	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATATGAAGAAGGCAGATTTGC	0.323																																						ENST00000357310.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42						c.(907-909)aafs		apoptotic peptidase activating factor 1	Adenosine triphosphate(DB00171)						52.0	55.0	54.0					12																	99056538		2202	4297	6499	SO:0001589	frameshift_variant	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99056538delG	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.909delG	12.37:g.99056538delG	ENSP00000448165:p.Lys303fs					APAF1_ENST00000339433.3_Frame_Shift_Del_p.K303fs|APAF1_ENST00000359972.2_Frame_Shift_Del_p.K292fs|APAF1_ENST00000552268.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000551964.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000550527.1_Frame_Shift_Del_p.K292fs|APAF1_ENST00000333991.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000549007.1_Frame_Shift_Del_p.K303fs|APAF1_ENST00000547045.1_Frame_Shift_Del_p.K303fs	p.K303fs	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN			7	1486	+			303			NB-ARC.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Frame_Shift_Del	DEL	ENST00000551964.1	37	c.909delG	CCDS9069.1																																																																																				0.323	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		13	59						13	59	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81625365	81625366	+	Frame_Shift_Ins	INS	-	-	T			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr15:81625365_81625366insT	ENST00000359440.5	-	22	2832_2833	c.2697_2698insA	c.(2695-2700)aaacatfs	p.H900fs	TMC3_ENST00000558726.1_Frame_Shift_Ins_p.H901fs|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACATTTAGATGTTTTTTCTTGT	0.51																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2698-2703)aaatctfs		transmembrane channel-like 3				0,3678		0,0,1839						4.0	0.0			85	1,7901		0,1,3950	no	frameshift	TMC3	NM_001080532.1		0,1,5789	A1A1,A1R,RR		0.0127,0.0,0.0086				1,11579				SO:0001589	frameshift_variant	342125					integral to membrane		g.chr15:81625365_81625366insT	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2698dupA	15.37:g.81625371_81625371dupT	ENSP00000352413:p.His900fs					TMC3_ENST00000359440.5_Frame_Shift_Ins_p.S900fs|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	p.S901fs			Q7Z5M5	TMC3_HUMAN			22	2835_2836	-			900						Frame_Shift_Ins	INS	ENST00000359440.5	37	c.2700_2701insA	CCDS45324.1																																																																																				0.510	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		15	139						15	139	---	---	---	---
STX4	6810	broad.mit.edu	37	16	31045645	31045648	+	Splice_Site	DEL	GAGT	GAGT	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:31045645_31045648delGAGT	ENST00000313843.3	+	3	546_547	c.231_232delGAGT	c.(229-234)gagagt>gagt	p.S78fs	STX4_ENST00000394998.1_Splice_Site_p.S76fs|STX4_ENST00000493902.1_3'UTR	NM_004604.3	NP_004595.2	Q12846	STX4_HUMAN	syntaxin 4	78					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|neurotransmitter transport (GO:0006836)|platelet activation (GO:0030168)|post-Golgi vesicle-mediated transport (GO:0006892)|SNARE complex assembly (GO:0035493)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|membrane (GO:0016020)|myelin sheath adaxonal region (GO:0035749)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TTCCCGAGGAGAGTGAGTGAAACC	0.598																																						ENST00000394998.1																			0				NS(2)|breast(1)|large_intestine(3)|lung(3)	9						c.e4+1		syntaxin 4																																				SO:0001630	splice_region_variant	6810				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity	g.chr16:31045645_31045648delGAGT	AF026007	CCDS10700.1, CCDS61916.1	16p11.2	2008-02-05	2006-04-25	2006-04-25	ENSG00000103496	ENSG00000103496			11439	protein-coding gene	gene with protein product		186591	"""syntaxin 4A (placental)"""	STX4A		8206394, 16339081	Standard	NM_001272095		Approved	p35-2	uc002eak.4	Q12846	OTTHUMG00000132404	ENST00000313843.3:c.232+1GAGT>-	16.37:g.31045649_31045652delGAGT						STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Splice_Site_p.E77_splice	p.E75_splice	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN			4	568_569	+			77					A8MXY0|Q15525|Q6FHE8	Splice_Site	DEL	ENST00000313843.3	37	c.226_splice	CCDS10700.1																																																																																				0.598	STX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255538.3	NM_004604	Frame_Shift_Del	32	122						32	122	---	---	---	---
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																						ENST00000565421.1																			0																																																			0							g.chr16:53404542_53404543insA																													16.37:g.53404545_53404545dupA														0	410	-									RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000422364.2			7	35						7	35	---	---	---	---
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G	rs368999726		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr17:43591984_43591985insG	ENST00000579913.1	-	0	537_538				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTGGGTCATGCGGAGCGAGTTT	0.411																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43591984_43591985insG	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591986_43591986dupG						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	INS	ENST00000579913.1	37																																																																																						0.411	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	66						7	66	---	---	---	---
ZNF573	126231	broad.mit.edu	37	19	38229927	38229927	+	Frame_Shift_Del	DEL	A	A	-	rs201545219		TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:38229927delA	ENST00000590414.2	-	4	1485	c.1464delT	c.(1462-1464)catfs	p.H488fs	ZNF573_ENST00000392138.1_Frame_Shift_Del_p.H401fs|ZNF573_ENST00000536220.1_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000339503.4_Frame_Shift_Del_p.H430fs|ZNF573_ENST00000357309.3_Frame_Shift_Del_p.H400fs			Q86YE8	ZN573_HUMAN	zinc finger protein 573	488					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)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTCCGATGTTGAATAA	0.373																																						ENST00000339503.4																			0				NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1288-1290)cafs		zinc finger protein 573							84.0	82.0	82.0					19																	38229927		2203	4300	6503	SO:0001589	frameshift_variant	126231				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38229927delA	AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000590414.2:c.1464delT	19.37:g.38229927delA	ENSP00000465020:p.His488fs					ZNF573_ENST00000590414.2_Frame_Shift_Del_p.H488fs|ZNF573_ENST00000392138.1_Frame_Shift_Del_p.H401fs|ZNF573_ENST00000357309.3_Frame_Shift_Del_p.H400fs|ZNF573_ENST00000536220.1_Frame_Shift_Del_p.H400fs	p.H430fs	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)		8	1791	-			468					B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	Frame_Shift_Del	DEL	ENST00000590414.2	37	c.1290delT	CCDS59381.1																																																																																				0.373	ZNF573-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459773.2	NM_152360		46	118						46	118	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54754838	54754839	+	Intron	INS	-	-	G	rs373363902|rs531467777|rs527853571	byFrequency	TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:54754838_54754839insG	ENST00000316219.5	-	13	1734				CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Frame_Shift_Ins_p.P599fs|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604														824	0.164537	0.0938	0.1196	5008	,	,		11633	0.4206		0.1074	False		,,,				2504	0.0869					ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1795-1797)cccfs		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5																																				SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754838_54754839insG	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-42->C	19.37:g.54754842_54754842dupG						LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron	p.P599fs			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1873_1874	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		424					Q8N760	Frame_Shift_Ins	INS	ENST00000316219.5	37	c.1796_1797insC	CCDS12885.1																																																																																				0.604	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			7	9						7	9	---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58573073	58573073	+	Splice_Site	DEL	G	G	-			TCGA-UF-A7J9-01A-12D-A34J-08	TCGA-UF-A7J9-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c9b6f5c-ddaf-4857-a55a-affc6bdbbd19	1706456b-917f-4164-91b0-6d4fcf78c752	g.chr19:58573073delG	ENST00000313434.5	+	3	260	c.159delG	c.(157-159)gtg>gt	p.V53fs	ZNF135_ENST00000359978.6_Splice_Site_p.V65fs|ZNF135_ENST00000511556.1_Splice_Site_p.V53fs|ZNF135_ENST00000439855.2_Splice_Site_p.V53fs|ZNF135_ENST00000401053.4_Splice_Site_p.V65fs|ZNF135_ENST00000506786.1_Splice_Site_p.V11fs	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	53	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|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)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TGGTCTCTGTGGGTAAGGCCA	0.507																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.e3+1		zinc finger protein 135							175.0	168.0	170.0					19																	58573073		2203	4300	6503	SO:0001630	splice_region_variant	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58573073delG	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.160+1G>-	19.37:g.58573073delG						ZNF135_ENST00000511556.1_Splice_Site_p.V53_splice|ZNF135_ENST00000401053.4_Splice_Site_p.V65_splice|ZNF135_ENST00000439855.2_Splice_Site_p.V53_splice|ZNF135_ENST00000359978.6_Splice_Site_p.V65_splice|ZNF135_ENST00000313434.5_Splice_Site_p.V53_splice	p.V11_splice			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	3	587	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	53					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Splice_Site	DEL	ENST00000313434.5	37	c.34_splice																																																																																					0.507	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436	Frame_Shift_Del	41	148						41	148	---	---	---	---
