#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
JAKMIP1	152789	broad.mit.edu	37	4	6050593	6050593	+	Silent	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr4:6050593C>A	ENST00000409021.3	-	16	2468	c.2019G>T	c.(2017-2019)ctG>ctT	p.L673L	JAKMIP1_ENST00000409371.3_Silent_p.L488L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	0					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTCACACAGGGCAAGCA	0.468																																						ENST00000409021.3											0			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2017-2019)ctG>ctT	janus kinase and microtubule interacting protein 1						97.0	95.0	96.0					4																	6050593		1986	4151	6137	SO:0001819	synonymous_variant	152789			protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6050593C>A	AK056126	AK056126	CCDS3385.1, CCDS47005.1	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969	ENSG00000152969	ENSG00000152969				26460	26460	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			611195	611195						18941173	18941173	Standard	Standard	NM_144720	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	uc010idb.1	Q96N16	Q96N16	OTTHUMG00000125491	OTTHUMG00000125491	ENST00000409021.3:c.2019G>T	4.37:g.6050593C>A			JAKMIP1_ENST00000409371.3_Silent_p.L488L	p.L673L	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN			16	2468	-			444		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000409021.3	37	c.2019G>T	CCDS47005.1																																																																																									0.468	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1		-1.711817	6	6	63	63	NM_144720		3	6.777134	6.777134	41	0.068182	1	0	0.115264	1	0.128071	3	41	0.068182
KCTD19	146212	broad.mit.edu	37	16	67327540	67327540	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:67327540C>T	ENST00000304372.5	-	12	2180	c.2125G>A	c.(2125-2127)Gac>Aac	p.D709N		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	709					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGCCCCTTGTCTTTCGCTCCA	0.597																																						ENST00000304372.5											0			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23						c.(2125-2127)Gac>Aac	potassium channel tetramerization domain containing 19						91.0	97.0	95.0					16																	67327540		2013	4180	6193	SO:0001583	missense	146212				voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67327540C>T	AK097481	AK097481	CCDS42179.1	CCDS42179.1	16q22.1	2013-06-20	2013-06-20		2013-06-20	2013-06-20			ENSG00000168676		ENSG00000168676				24753	24753	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""potassium channel tetramerisation domain containing 19"""		"""potassium channel tetramerisation domain containing 19"""					Standard	Standard	NM_001100915	NM_001100915		Approved	FLJ40162	uc002esu.2	uc002esu.2	Q17RG1	Q17RG1			ENST00000304372.5:c.2125G>A	16.37:g.67327540C>T	ENSP00000305702:p.Asp709Asn			p.D709N	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	12	2180	-		Ovarian(137;0.192)	709		B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2125G>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404509	0.42613	.	.	ENSG00000168676	ENST00000304372	T	0.59772	0.24	5.86	5.86	0.93980	5.86	5.86	0.93980	.	0.426896	0.22428	N	0.060193	T	0.39489	0.1080	N	0.19112	0.55	0.35187	D	0.773001	P	0.38922	0.651	B	0.24541	0.054	T	0.57516	-0.7798	10	0.59425	D	0.04	-16.2777	15.6912	0.77453	0.0:1.0:0.0:0.0	.	709	Q17RG1	KCD19_HUMAN	N	709	ENSP00000305702:D709N	ENSP00000305702:D709N	D	-	1	0	0	KCTD19	65885041	65885041	1.000000	0.71417	1.000000	0.80357	0.312000	0.27988	3.895000	0.56258	2.779000	0.95612	0.563000	0.77884	GAC		0.597	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		72.590610	-19	-19	97	97	XM_085367		27	76.101897	76.101897	65	0.293478	0	0	0	1	0	27	65	0.293478
PARPBP	55010	broad.mit.edu	37	12	102576331	102576331	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:102576331C>G	ENST00000358383.5	+	9	1234	c.1189C>G	c.(1189-1191)Ccc>Gcc	p.P397A	PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.P316A			Q9NWS1	PARI_HUMAN	PARP1 binding protein	397					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						ACATAGGTCTCCCACACAGGT	0.338																																						ENST00000327680.2											0			endometrium(1)|lung(8)|urinary_tract(2)	11						c.(946-948)Ccc>Gcc	PARP1 binding protein						42.0	43.0	43.0					12																	102576331		2203	4299	6502	SO:0001583	missense	55010			response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102576331C>G	AK000648	AK000648	CCDS9090.1, CCDS9090.2	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480		ENSG00000185480				26074	26074	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	"""PARP-1 binding protein"""	613687	613687	"""chromosome 12 open reading frame 48"""	C12orf48	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	20931645	Standard	Standard	NM_017915	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	uc001tjf.3	Q9NWS1	Q9NWS1			ENST00000358383.5:c.1189C>G	12.37:g.102576331C>G	ENSP00000351153:p.Pro397Ala		PARPBP_ENST00000541394.1_Missense_Mutation_p.P474A|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000358383.5_Missense_Mutation_p.P397A|PARPBP_ENST00000392911.2_Missense_Mutation_p.P316A	p.P316A	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN			10	1409	+			397		B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	c.946C>G	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638060	0.47153	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911;ENST00000417507	T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.11	5.26	5.26	0.73747	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65471	0.2694	M	0.77103	2.36	0.45490	D	0.998458	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.69198	-0.5208	10	0.87932	D	0	-7.5577	14.7262	0.69346	0.0:1.0:0.0:0.0	.	474;276;397	B4DZ31;Q9NWS1-7;Q9NWS1	.;.;PR1BP_HUMAN	A	316;474;397;316;243	ENSP00000332915:P316A;ENSP00000440850:P474A;ENSP00000351153:P397A;ENSP00000376643:P316A;ENSP00000411313:P243A	ENSP00000332915:P316A	P	+	1	0	0	C12orf48	101100461	101100461	1.000000	0.71417	0.998000	0.56505	0.107000	0.19398	3.974000	0.56852	2.613000	0.88420	0.591000	0.81541	CCC		0.338	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		53.114730	-7	-7	49	49	NM_017915		18	53.366825	53.366825	25	0.418605	0	0	0	1	0	18	25	0.418605
XPC	7508	broad.mit.edu	37	3	14200132	14200132	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:14200132C>T	ENST00000285021.7	-	9	1465	c.1251G>A	c.(1249-1251)ccG>ccA	p.P417P	XPC_ENST00000449060.2_Silent_p.P380P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	417	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCGGCCATGCGGACGTCGCT	0.607			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1249-1251)ccG>ccA	xeroderma pigmentosum, complementation group C						142.0	140.0	140.0					3																	14200132		1568	3582	5150	SO:0001819	synonymous_variant	7508	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200132C>T			CCDS46763.1	CCDS46763.1	3p25.1	2014-09-17			2014-09-17			ENSG00000154767	ENSG00000154767	ENSG00000154767	ENSG00000154767				12816	12816	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	"""xeroderma pigmentosum group C protein"""	613208	613208						1522891	1522891	Standard	Standard	NM_004628	NM_004628		Approved	XPCC, RAD4	uc011ave.2	uc011ave.2	Q01831	Q01831	OTTHUMG00000155526	OTTHUMG00000155526	ENST00000285021.7:c.1251G>A	3.37:g.14200132C>T			XPC_ENST00000449060.2_Silent_p.P380P	p.P417P	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			9	1465	-			417	Arg/Lys-rich (basic).	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Silent	SNP	ENST00000285021.7	37	c.1251G>A	CCDS46763.1																																																																																									0.607	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3		-4.650439	3	3	163	163	NM_004628		4	7.308321	7.308321	57	0.065574	0	0	0	1	0	4	57	0.065574
BAP1	8314	broad.mit.edu	37	3	52436620	52436620	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:52436620T>A	ENST00000460680.1	-	16	2525	c.2054A>T	c.(2053-2055)gAa>gTa	p.E685V	BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E685V(1)|p.?(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCCCTCACCTTCCTGAGCCAG	0.552			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	2	Substitution - Missense(1)|Unknown(1)	pleura(2)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(2053-2055)gAa>gTa	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						148.0	135.0	140.0					3																	52436620		2203	4300	6503	SO:0001583	missense	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52436620T>A	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.2054A>T	3.37:g.52436620T>A	ENSP00000417132:p.Glu685Val		BAP1_ENST00000296288.5_Missense_Mutation_p.E667V	p.E685V	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	16	2525	-			685	Interaction with BRCA1.	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.2054A>T	CCDS2853.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.073625|4.073625	0.76415|0.76415	.|.	.|.	ENSG00000163930|ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000478368|ENST00000469613	T;T;T|.	0.51325|.	0.71;0.71;0.71|.	5.82|5.82	5.82|5.82	0.92795|0.92795	5.82|5.82	5.82|5.82	0.92795|0.92795	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.70928|.	0.3280|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	P|.	0.60789|.	0.879|.	T|.	0.69026|.	-0.5254|.	10|.	0.87932|.	D|.	0|.	.|.	16.183|16.183	0.81925|0.81925	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	685|.	Q92560|.	BAP1_HUMAN|.	V|X	685;667;209|85	ENSP00000417132:E685V;ENSP00000296288:E667V;ENSP00000420647:E209V|.	ENSP00000296288:E667V|.	E|K	-|-	2|1	0|0	0|0	BAP1|BAP1	52411660|52411660	52411660|52411660	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.885000|0.885000	0.51271|0.51271	6.280000|6.280000	0.72626|0.72626	2.231000|2.231000	0.72958|0.72958	0.402000|0.402000	0.26972|0.26972	GAA|AAG		0.552	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1		134.539547	-4	-4	73	73			38	136.200235	136.200235	1	0.974359	0	0	0	1	0	38	1	0.974359
FHOD3	80206	broad.mit.edu	37	18	33952644	33952644	+	Splice_Site	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr18:33952644C>T	ENST00000359247.4	+	3	274	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W	FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000257209.4_Splice_Site_p.R92W	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	92	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCTCGTTAGGCGGGGCAAGAA	0.522																																						ENST00000257209.4											0			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90						c.(274-276)Cgg>Tgg	formin homology 2 domain containing 3																																			SO:0001630	splice_region_variant	80206			actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr18:33952644C>T	AK091899	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02			2007-08-02				ENSG00000134775		ENSG00000134775				26178	26178	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			609691	609691						11214970	11214970	Standard	Standard	NM_025135	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	uc021uiv.1	Q2V2M9	Q2V2M9			ENST00000359247.4:c.273-1C>T	18.37:g.33952644C>T			FHOD3_ENST00000590592.1_Splice_Site_p.R92W|FHOD3_ENST00000445677.1_Splice_Site_p.R92W|FHOD3_ENST00000359247.4_Splice_Site_p.R92W	p.R92W	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN			3	396	+		all_epithelial(2;0.0181)|Colorectal(2;0.0195)	92	GBD/FH3.	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Splice_Site	SNP	ENST00000359247.4	37	c.274C>T		.	.	.	.	.	.	.	.	.	.	C	17.77	3.471204	0.63625	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.20200	2.09;2.09;2.09	5.07	1.99	0.26369	5.07	1.99	0.26369	GTPase-binding/formin homology 3 (1);	0.059478	0.64402	D	0.000009	T	0.33760	0.0874	L	0.40543	1.245	0.29114	N	0.880696	D;D;P	0.89917	1.0;1.0;0.85	D;D;B	0.83275	0.967;0.996;0.06	T	0.13388	-1.0511	10	0.87932	D	0	.	10.8051	0.46514	0.6476:0.3524:0.0:0.0	.	92;92;92	Q2V2M9;Q2V2M9-3;E5F5Q0	FHOD3_HUMAN;.;.	W	92	ENSP00000257209:R92W;ENSP00000352186:R92W;ENSP00000411430:R92W	ENSP00000257209:R92W	R	+	1	2	2	FHOD3	32206642	32206642	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.465000	0.35299	0.240000	0.21263	0.650000	0.86243	CGG		0.522	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1		37.065480	6	6	38	38	XM_371114	Missense_Mutation	13	37.10082	37.100820	11	0.541667	0	0	0	1	0	13	11	0.541667
SOGA1	140710	broad.mit.edu	37	20	35443784	35443784	+	Silent	SNP	G	G	A	rs528805804		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:35443784G>A	ENST00000357779.3	-	5	1673	c.1347C>T	c.(1345-1347)aaC>aaT	p.N449N	SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000237536.4_Silent_p.N687N			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	449					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CAGCACACTCGTTGTCCAGAC	0.647																																						ENST00000237536.4											0			endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(2059-2061)aaC>aaT	suppressor of glucose, autophagy associated 1						33.0	35.0	34.0					20																	35443784		2203	4299	6502	SO:0001819	synonymous_variant	140710						g.chr20:35443784G>A	AK126630	AK126630	CCDS46598.1, CCDS54459.1	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639	ENSG00000149639	ENSG00000149639				16111	16111	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""			"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889	"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	20813965	Standard	Standard	NM_080627	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	uc021wcx.1	O94964	O94964	OTTHUMG00000032395	OTTHUMG00000032395	ENST00000357779.3:c.1347C>T	20.37:g.35443784G>A			SOGA1_ENST00000456801.2_Silent_p.N290N|SOGA1_ENST00000279034.6_Silent_p.N449N|SOGA1_ENST00000357779.3_Silent_p.N449N	p.N687N	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN			5	2402	-			449		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.2061C>T																																																																																										0.647	SOGA1-201	KNOWN	basic	protein_coding	protein_coding			32.922908	-2	-2	29	29	NM_199181		11	32.932383	32.932383	12	0.478261	0	0	0	1	0	11	12	0.478261
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:51873020C>A	ENST00000371497.5	+	2	3910	c.3023C>A	c.(3022-3024)gCg>gAg	p.A1008E	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468																																						ENST00000371497.5											0			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84						c.(3022-3024)gCg>gAg	teashirt zinc finger homeobox 2						119.0	101.0	107.0					20																	51873020		2203	4300	6503	SO:0001583	missense	128553			multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51873020C>A	AF230201	AF230201	CCDS33490.1, CCDS54474.1	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	13010	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614118	614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	9671742	Standard	Standard	NM_173485	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	uc021wex.1	Q9NRE2	Q9NRE2	OTTHUMG00000033058	OTTHUMG00000033058	ENST00000371497.5:c.3023C>A	20.37:g.51873020C>A	ENSP00000360552:p.Ala1008Glu		TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005E|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005E	p.A1008E	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3910	+			1008		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.3023C>A	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556662	0.86231	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.28666	1.6;1.6	5.69	5.69	0.88448	5.69	5.69	0.88448	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.71920	2.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59841	-0.7378	10	0.87932	D	0	-14.5615	19.8075	0.96536	0.0:1.0:0.0:0.0	.	1008	Q9NRE2	TSH2_HUMAN	E	1008;1005	ENSP00000360552:A1008E;ENSP00000333114:A1005E	ENSP00000333114:A1005E	A	+	2	0	0	TSHZ2	51306427	51306427	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	7.482000	0.81143	2.681000	0.91329	0.637000	0.83480	GCG		0.468	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		-5.018007	-14	-14	53	53	NM_173485		3	6.478086	6.478086	52	0.054545	1	0	0.150653	1	0.155848	3	52	0.054545
LIPE	3991	broad.mit.edu	37	19	42912150	42912150	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:42912150A>G	ENST00000244289.4	-	4	1910	c.1634T>C	c.(1633-1635)aTc>aCc	p.I545T	LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	545					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CATCTCGGTGATGTTCCAGAA	0.597																																						ENST00000244289.4											0			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(1633-1635)aTc>aCc	lipase, hormone-sensitive						78.0	60.0	66.0					19																	42912150		2203	4300	6503	SO:0001583	missense	3991			cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding	g.chr19:42912150A>G	L11706	L11706	CCDS12607.1	CCDS12607.1	19q13.1-q13.2	2014-03-14			2014-03-14			ENSG00000079435	ENSG00000079435	ENSG00000079435	ENSG00000079435	3.1.1.3			6621	6621	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			151750	151750						8506334	8506334	Standard	Standard	NM_005357	NM_005357		Approved	HSL	uc002otr.3	uc002otr.3	Q05469	Q05469	OTTHUMG00000182814	OTTHUMG00000182814	ENST00000244289.4:c.1634T>C	19.37:g.42912150A>G	ENSP00000244289:p.Ile545Thr		LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA	p.I545T	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN			4	1910	-		Prostate(69;0.00682)	545		Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	37	c.1634T>C	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049033	0.55110	.	.	ENSG00000079435	ENST00000244289	T	0.37058	1.22	4.12	3.07	0.35406	4.12	3.07	0.35406	Hormone-sensitive lipase, N-terminal (1);	0.156433	0.39834	N	0.001252	T	0.50514	0.1620	L	0.54323	1.7	0.38897	D	0.957238	D;D	0.76494	0.999;0.997	D;D	0.80764	0.984;0.994	T	0.51228	-0.8732	10	0.66056	D	0.02	-21.1103	9.0444	0.36338	0.8348:0.0:0.0:0.1652	.	545;545	A8K8W7;Q05469	.;LIPS_HUMAN	T	545	ENSP00000244289:I545T	ENSP00000244289:I545T	I	-	2	0	0	LIPE	47603990	47603990	1.000000	0.71417	0.989000	0.46669	0.703000	0.40648	3.784000	0.55416	0.538000	0.28769	0.459000	0.35465	ATC		0.597	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1		5.091048	16	16	33	33	NM_005357		4	6.382114	6.382114	14	0.222222	0	0	0	1	0	4	14	0.222222
PTCHD1	139411	ucsc.edu	37	X	23411271	23411271	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chrX:23411271C>A	ENST00000379361.4	+	3	2496	c.1636C>A	c.(1636-1638)Caa>Aaa	p.Q546K		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	546					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACTGCCCAGCAAAAGTACTT	0.423																																																	0																	105.0	93.0	97.0					X																	23411271		2203	4300	6503	SO:0001583	missense	139411							AK054858	AK054858	CCDS35215.2	CCDS35215.2	Xp22.13	2008-02-05			2008-02-05			ENSG00000165186	ENSG00000165186	ENSG00000165186	ENSG00000165186				26392	26392	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			300828	300828								Standard	Standard	NM_173495	NM_173495		Approved	FLJ30296	uc004dal.4	uc004dal.4	Q96NR3	Q96NR3	OTTHUMG00000021251	OTTHUMG00000021251	ENST00000379361.4:c.1636C>A	X.37:g.23411271C>A	ENSP00000368666:p.Gln546Lys																	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37		CCDS35215.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947582	0.73787	.	.	ENSG00000165186	ENST00000379361	D	0.83992	-1.79	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	L	0.54323	1.7	0.53688	D	0.99997	B	0.17852	0.024	B	0.31290	0.127	T	0.76971	-0.2761	10	0.23302	T	0.38	.	18.7851	0.91951	0.0:1.0:0.0:0.0	.	546	Q96NR3	PTHD1_HUMAN	K	546	ENSP00000368666:Q546K	ENSP00000368666:Q546K	Q	+	1	0	0	PTCHD1	23321192	23321192	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.764000	0.68826	2.381000	0.81170	0.600000	0.82982	CAA		0.423	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2			-91	-91	49	49	NM_173495		4			26							4	26	
PREX2	80243	broad.mit.edu	37	8	69000029	69000029	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:69000029C>T	ENST00000288368.4	+	19	2375	c.2098C>T	c.(2098-2100)Cat>Tat	p.H700Y	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	700	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTTGTGCATGCTGTAGG	0.453																																						ENST00000288368.4											0			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2098-2100)Cat>Tat	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2						199.0	186.0	190.0					8																	69000029		2203	4300	6503	SO:0001583	missense	80243			G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69000029C>T	AK024079	AK024079	CCDS6201.1	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	"""Rho guanine nucleotide exchange factors"""	22950	22950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	"""protein phosphatase 1, regulatory subunit 129"""	612139	612139	"""DEP domain containing 2"""	DEPDC2	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	15304342, 15304343	Standard	Standard	NM_024870	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	uc003xxv.1	Q70Z35	Q70Z35	OTTHUMG00000164402	OTTHUMG00000164402	ENST00000288368.4:c.2098C>T	8.37:g.69000029C>T	ENSP00000288368:p.His700Tyr		RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	p.H700Y	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			19	2375	+			700	PDZ 2.	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2098C>T	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	14.04	2.415959	0.42817	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.26957	1.7	5.45	5.45	0.79879	5.45	5.45	0.79879	PDZ/DHR/GLGF (4);	0.059839	0.64402	D	0.000002	T	0.23965	0.0580	L	0.31120	0.905	0.80722	D	1	B;B;B	0.27416	0.178;0.117;0.042	B;B;B	0.32928	0.155;0.123;0.051	T	0.04509	-1.0946	10	0.19147	T	0.46	.	19.2862	0.94072	0.0:1.0:0.0:0.0	.	700;700;700	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Y	700	ENSP00000288368:H700Y	ENSP00000288368:H700Y	H	+	1	0	0	PREX2	69162583	69162583	1.000000	0.71417	0.993000	0.49108	0.754000	0.42855	7.411000	0.80078	2.538000	0.85594	0.650000	0.86243	CAT		0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		120.106082	-16	-16	125	125	NM_025170		45	126.065327	126.065327	109	0.292208	0	0	0	1	0	45	109	0.292208
AMER3	205147	broad.mit.edu	37	2	131519652	131519652	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:131519652C>T	ENST00000423981.1	+	2	117	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	AMER3_ENST00000321420.4_Silent_p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	3					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										CAGCATGGAGCTGAAGAGAGG	0.627																																						ENST00000423981.1											0										c.(7-9)Ctg>Ttg	APC membrane recruitment protein 3						16.0	17.0	17.0					2																	131519652		2191	4271	6462	SO:0001819	synonymous_variant	205147						g.chr2:131519652C>T	AK095696	AK095696	CCDS2164.1	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171	ENSG00000178171	ENSG00000178171		"""-"""	"""-"""	26771	26771	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""family with sequence similarity 123C"""	FAM123C	"""family with sequence similarity 123C"""	FAM123C		20843316	20843316	Standard	Standard	NM_001105195	NM_001105195		Approved	FLJ38377	uc002trw.2	uc002trw.2	Q8N944	Q8N944	OTTHUMG00000131637	OTTHUMG00000131637	ENST00000423981.1:c.7C>T	2.37:g.131519652C>T			AMER3_ENST00000321420.4_Silent_p.L3L	p.L3L	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2					2	117	+					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.7C>T	CCDS2164.1																																																																																									0.627	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3		7.823927	-6	-6	20	20	NM_152698		3	8.502517	8.502517	9	0.250000	0	0	0	1	0	3	9	0.25
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	153	Substitution - Missense(153)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cCa	guanine nucleotide binding protein (G protein), q polypeptide						108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>G			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro		GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	p.Q209P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			5	848	-			209		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>C	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	0	GNAQ	79599308	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		60.889629	-11	-11	101	101	NM_002072		20	62.486991	62.486991	41	0.327869	0	0	0	1	0	20	41	0.327869
F5	2153	broad.mit.edu	37	1	169509628	169509628	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr1:169509628A>G	ENST00000367797.3	-	13	4901	c.4700T>C	c.(4699-4701)aTt>aCt	p.I1567T	F5_ENST00000367796.3_Missense_Mutation_p.I1572T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1567	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCATGCTGCAATGTTGTCAGG	0.393																																						ENST00000367796.3											0			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4714-4716)aTt>aCt	coagulation factor V (proaccelerin, labile factor)						117.0	113.0	115.0					1																	169509628		2203	4300	6503	SO:0001583	missense	2153			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169509628A>G	M14335	M14335	CCDS1281.1	CCDS1281.1	1q23	2012-10-02			2012-10-02			ENSG00000198734	ENSG00000198734	ENSG00000198734	ENSG00000198734				3542	3542	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			612309	612309								Standard	Standard	NM_000130	NM_000130		Approved		uc001ggg.1	uc001ggg.1	P12259	P12259	OTTHUMG00000034595	OTTHUMG00000034595	ENST00000367797.3:c.4700T>C	1.37:g.169509628A>G	ENSP00000356771:p.Ile1567Thr		F5_ENST00000367797.3_Missense_Mutation_p.I1567T	p.I1572T			P12259	FA5_HUMAN			13	4916	-	all_hematologic(923;0.208)		1567	B.	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4715T>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	A	19.97	3.924707	0.73213	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.56103	0.48;0.48	5.93	5.93	0.95920	5.93	5.93	0.95920	.	0.198500	0.45361	D	0.000366	T	0.43787	0.1263	M	0.83312	2.635	0.31018	N	0.718466	P	0.41080	0.737	B	0.42522	0.39	T	0.52653	-0.8547	9	0.22706	T	0.39	-22.3938	10.6744	0.45776	0.929:0.0:0.071:0.0	.	1567	P12259	FA5_HUMAN	T	1567;1572	ENSP00000356771:I1567T;ENSP00000356770:I1572T	ENSP00000356770:I1572T	I	-	2	0	0	F5	167776252	167776252	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.035000	0.70940	2.273000	0.75805	0.482000	0.46254	ATT		0.393	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1		122.937837	25	25	107	107	NM_000130		35	123.4812	123.481200	23	0.603448	0	0	0	1	0	35	23	0.603448
POU3F3	5455	broad.mit.edu	37	2	105472298	105472298	+	Silent	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472298T>C	ENST00000361360.2	+	1	330	c.330T>C	c.(328-330)gcT>gcC	p.A110A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	110	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgctgccgccgccg	0.791																																						ENST00000361360.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(328-330)gcT>gcC	POU class 3 homeobox 3						2.0	3.0	3.0					2																	105472298		326	964	1290	SO:0001819	synonymous_variant	5455			metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472298T>C			CCDS33265.1	CCDS33265.1	2q12.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914	ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	"""Homeoboxes / POU class"""	9216	9216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602480	602480	"""POU domain class 3, transcription factor 3"""		"""POU domain class 3, transcription factor 3"""					Standard	Standard	NM_006236	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	uc010ywg.2	P20264	P20264	OTTHUMG00000153067	OTTHUMG00000153067	ENST00000361360.2:c.330T>C	2.37:g.105472298T>C			RP11-13J10.1_ENST00000598623.1_RNA	p.A110A	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	330	+			110	Ala-rich.|Gly-rich.	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.330T>C	CCDS33265.1																																																																																									0.791	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		11.048330	7	7	9	9			3	10.93047	10.930470	0	1.000000	0	0	0	1	0	3	0	1.0
MYO15A	51168	hgsc.bcm.edu	37	17	18024984	18024984	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:18024984C>G	ENST00000205890.5	+	2	3208	c.2870C>G	c.(2869-2871)cCc>cGc	p.P957R		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	957					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCAGGCCACCCCCTGTGCCG	0.677																																																	0																	11.0	13.0	12.0					17																	18024984		1869	4056	5925	SO:0001583	missense	51168							AF144094	AF144094	CCDS42271.1	CCDS42271.1	17p11.2	2011-09-27			2011-09-27			ENSG00000091536	ENSG00000091536	ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	"""Myosins / Myosin superfamily : Class XV"""	7594	7594	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602666	602666		DFNB3, MYO15		DFNB3, MYO15		9603736	9603736	Standard	Standard	NM_016239	NM_016239		Approved		uc021trl.1	uc021trl.1	Q9UKN7	Q9UKN7	OTTHUMG00000059390	OTTHUMG00000059390	ENST00000205890.5:c.2870C>G	17.37:g.18024984C>G	ENSP00000205890:p.Pro957Arg																	B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37		CCDS42271.1	.	.	.	.	.	.	.	.	.	.	c	6.308	0.424980	0.11987	.	.	ENSG00000091536	ENST00000205890	D	0.91237	-2.81	4.49	2.42	0.29668	4.49	2.42	0.29668	.	.	.	.	.	D	0.82793	0.5114	L	0.29908	0.895	0.18873	N	0.999985	P	0.37015	0.578	B	0.30855	0.121	T	0.72097	-0.4393	9	0.87932	D	0	.	9.5673	0.39407	0.3823:0.6177:0.0:0.0	.	957	Q9UKN7	MYO15_HUMAN	R	957	ENSP00000205890:P957R	ENSP00000205890:P957R	P	+	2	0	0	MYO15A	17965709	17965709	0.007000	0.16637	0.044000	0.18714	0.256000	0.26092	1.033000	0.30191	0.317000	0.23160	-0.521000	0.04368	CCC		0.677	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1			-1	-1	21	21	NM_016239		7			12							7	12	
KRT40	125115	broad.mit.edu	37	17	39137347	39137347	+	Silent	SNP	A	A	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr17:39137347A>T	ENST00000398486.2	-	6	904	c.744T>A	c.(742-744)acT>acA	p.T248T	KRT40_ENST00000377755.4_Silent_p.T248T	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	248	Linker 12.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GGGTGGGGGCAGTGTCCAGCT	0.537																																						ENST00000377755.4											0			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(742-744)acT>acA	keratin 40						121.0	131.0	128.0					17																	39137347		2074	4216	6290	SO:0001819	synonymous_variant	125115				intermediate filament	structural molecule activity	g.chr17:39137347A>T	AK093919	AK093919	CCDS42320.1	CCDS42320.1	17q21.2	2013-01-16			2013-01-16			ENSG00000204889	ENSG00000204889	ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	26707	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										16831889	16831889	Standard	Standard	NM_182497	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	uc010cxh.1	Q6A162	Q6A162	OTTHUMG00000133596	OTTHUMG00000133596	ENST00000398486.2:c.744T>A	17.37:g.39137347A>T			KRT40_ENST00000398486.2_Silent_p.T248T	p.T248T			Q6A162	K1C40_HUMAN			4	778	-		Breast(137;0.00043)	248	Linker 12.|Rod.	Q6IFU5	Silent	SNP	ENST00000398486.2	37	c.744T>A	CCDS42320.1																																																																																									0.537	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3		-33.745760	9	9	157	157	NM_182497		4	6.306423	6.306423	156	0.025000	0	0	0	1	0	4	156	0.025
FANCA	2175	broad.mit.edu	37	16	89831391	89831391	+	Silent	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr16:89831391G>C	ENST00000389301.3	-	28	2715	c.2685C>G	c.(2683-2685)ccC>ccG	p.P895P	FANCA_ENST00000568369.1_Silent_p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	895					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GAAGGTGCAAGGGTCTCCAGG	0.527			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(2683-2685)ccC>ccG	Fanconi anemia, complementation group A						140.0	125.0	130.0					16																	89831391		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89831391G>C	Z83067	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			2014-09-17			ENSG00000187741	ENSG00000187741	ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	"""Fanconi anemia, complementation groups"""	3582	3582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607139	607139		FACA, FANCH		FACA, FANCH		7581462, 9382107	7581462, 9382107	Standard	Standard	NM_001286167	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	uc002fou.1	O15360	O15360			ENST00000389301.3:c.2685C>G	16.37:g.89831391G>C			FANCA_ENST00000568369.1_Silent_p.P895P	p.P895P	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	28	2715	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	895		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.2685C>G	CCDS32515.1																																																																																									0.527	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		6.242892	7	7	70	70			5	12.474967	12.474967	38	0.116279	0	0	0	1	0	5	38	0.116279
GMEB2	26205	broad.mit.edu	37	20	62236107	62236107	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr20:62236107T>C	ENST00000266068.1	-	2	696	c.218A>G	c.(217-219)gAa>gGa	p.E73G	GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	73					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			TAACACGGCTTCCTTGAGCTG	0.577																																						ENST00000266068.1											0			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18						c.(217-219)gAa>gGa	glucocorticoid modulatory element binding protein 2						76.0	75.0	75.0					20																	62236107		2203	4300	6503	SO:0001583	missense	26205			regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62236107T>C	AF173867	AF173867	CCDS13528.1	CCDS13528.1	20q13.33	2008-07-02			2008-07-02			ENSG00000101216	ENSG00000101216	ENSG00000101216	ENSG00000101216				4371	4371	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607451	607451						10523663, 11743720	10523663, 11743720	Standard	Standard	NM_012384	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	uc002yfq.1	Q9UKD1	Q9UKD1	OTTHUMG00000032988	OTTHUMG00000032988	ENST00000266068.1:c.218A>G	20.37:g.62236107T>C	ENSP00000266068:p.Glu73Gly		GMEB2_ENST00000370069.1_Missense_Mutation_p.E22G|GMEB2_ENST00000370077.1_Missense_Mutation_p.E73G	p.E73G			Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		2	696	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		73		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.218A>G	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.346293	0.61073	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.68025	-0.3;0.3;0.3	4.87	4.87	0.63330	4.87	4.87	0.63330	.	0.059134	0.64402	D	0.000004	T	0.47746	0.1462	N	0.08118	0	0.41882	D	0.990329	B	0.31383	0.321	B	0.30943	0.122	T	0.54702	-0.8254	10	0.56958	D	0.05	-3.4365	14.1277	0.65233	0.0:0.0:0.0:1.0	.	73	Q9UKD1	GMEB2_HUMAN	G	22;73;73	ENSP00000359086:E22G;ENSP00000359094:E73G;ENSP00000266068:E73G	ENSP00000266068:E73G	E	-	2	0	0	GMEB2	61706551	61706551	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	4.907000	0.63300	1.822000	0.53115	0.379000	0.24179	GAA		0.577	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1		83.104216	7	7	84	84	NM_012384		27	84.618375	84.618375	50	0.350649	0	0	0	1	0	27	50	0.350649
NLRP2	55655	broad.mit.edu	37	19	55494140	55494140	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr19:55494140C>T	ENST00000543010.1	+	6	1217	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	NLRP2_ENST00000537859.1_Silent_p.G336G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000263437.6_Silent_p.G355G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GGGTGGAGGGCTTCCTGGAGG	0.622																																						ENST00000543010.1											0			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1072-1074)ggC>ggT	NLR family, pyrin domain containing 2						34.0	32.0	33.0					19																	55494140		2203	4300	6503	SO:0001819	synonymous_variant	55655			apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494140C>T	AK000517	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	22948	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	12563287, 11270363	Standard	Standard	NM_001174081	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	uc021vbq.1	Q9NX02	Q9NX02	OTTHUMG00000167763	OTTHUMG00000167763	ENST00000543010.1:c.1074C>T	19.37:g.55494140C>T			NLRP2_ENST00000339757.7_Silent_p.G336G|NLRP2_ENST00000391721.4_Silent_p.G334G|NLRP2_ENST00000448584.2_Silent_p.G358G|NLRP2_ENST00000427260.2_Silent_p.G335G|NLRP2_ENST00000538819.1_Silent_p.G334G|NLRP2_ENST00000263437.6_Silent_p.G355G|NLRP2_ENST00000537859.1_Silent_p.G336G	p.G358G	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1217	+			358	NACHT.	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1074C>T	CCDS12913.1																																																																																									0.622	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		17.212518	6	6	31	31	NM_017852		7	18.462776	18.462776	19	0.269231	0	0	0	1	0	7	19	0.269231
POU3F3	5455	broad.mit.edu	37	2	105472295	105472295	+	Silent	SNP	C	C	T			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr2:105472295C>T	ENST00000361360.2	+	1	327	c.327C>T	c.(325-327)gcC>gcT	p.A109A	RP11-13J10.1_ENST00000598623.1_RNA|AC018730.1_ENST00000447876.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	109	Ala-rich.|Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						ccgccgccgccgctgccgccg	0.781																																						ENST00000361360.2											0			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(325-327)gcC>gcT	POU class 3 homeobox 3						2.0	3.0	3.0					2																	105472295		374	1047	1421	SO:0001819	synonymous_variant	5455			metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding	g.chr2:105472295C>T			CCDS33265.1	CCDS33265.1	2q12.1	2011-06-20	2007-07-13		2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914	ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	"""Homeoboxes / POU class"""	9216	9216	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			602480	602480	"""POU domain class 3, transcription factor 3"""		"""POU domain class 3, transcription factor 3"""					Standard	Standard	NM_006236	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	uc010ywg.2	P20264	P20264	OTTHUMG00000153067	OTTHUMG00000153067	ENST00000361360.2:c.327C>T	2.37:g.105472295C>T			RP11-13J10.1_ENST00000598623.1_RNA	p.A109A	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN			1	327	+			109	Ala-rich.|Gly-rich.	P78379|Q4ZG25	Silent	SNP	ENST00000361360.2	37	c.327C>T	CCDS33265.1																																																																																									0.781	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329335.2		11.448539	9	9	11	11			3	11.330699	11.330699	0	1.000000	0	0	0	1	0	3	0	1.0
SNX4	8723	broad.mit.edu	37	3	125223532	125223532	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr3:125223532T>G	ENST00000251775.4	-	2	222	c.198A>C	c.(196-198)gaA>gaC	p.E66D	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	66	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CAGTTCGTTTTTCTGCTTCTG	0.353																																						ENST00000251775.4											0			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						c.(196-198)gaA>gaC	sorting nexin 4						191.0	163.0	173.0					3																	125223532		2203	4300	6503	SO:0001583	missense	8723			cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125223532T>G	AF065485	AF065485	CCDS3032.1	CCDS3032.1	3q21.2	2014-02-12			2014-02-12			ENSG00000114520	ENSG00000114520	ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	"""Sorting nexins"""	11175	11175	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605931	605931						9819414	9819414	Standard	Standard	NM_003794	NM_003794		Approved	ATG24B	uc003eib.4	uc003eib.4	O95219	O95219	OTTHUMG00000159575	OTTHUMG00000159575	ENST00000251775.4:c.198A>C	3.37:g.125223532T>G	ENSP00000251775:p.Glu66Asp		SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_Intron	p.E66D	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN			2	222	-			66	PX.	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	ENST00000251775.4	37	c.198A>C	CCDS3032.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.748976	0.69533	.	.	ENSG00000114520	ENST00000251775	T	0.45276	0.9	4.75	3.6	0.41247	4.75	3.6	0.41247	Phox homologous domain (5);	0.098437	0.64402	N	0.000002	T	0.60907	0.2305	M	0.87456	2.885	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.60757	-0.7200	10	0.36615	T	0.2	-13.2006	7.9672	0.30107	0.0:0.2356:0.0:0.7644	.	66	O95219	SNX4_HUMAN	D	66	ENSP00000251775:E66D	ENSP00000251775:E66D	E	-	3	2	2	SNX4	126706222	126706222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.740000	0.26188	0.856000	0.35383	0.533000	0.62120	GAA		0.353	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1		84.117479	4	4	55	55	NM_003794		22	86.108866	86.108866	1	0.956522	0	0	0	1	0	22	1	0.956522
TBX5	6910	broad.mit.edu	37	12	114823293	114823293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr12:114823293G>C	ENST00000310346.4	-	7	1409	c.743C>G	c.(742-744)tCa>tGa	p.S248*	TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	248					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTGCATTCTTGACATTCTGTG	0.478																																					NSCLC(152;1358 1980 4050 23898 40356)	ENST00000310346.4											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(742-744)tCa>tGa	T-box 5						169.0	138.0	148.0					12																	114823293		2203	4300	6503	SO:0001587	stop_gained	6910			cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114823293G>C	U89353	U89353	CCDS9173.1, CCDS9174.1	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			2014-09-17			ENSG00000089225	ENSG00000089225	ENSG00000089225	ENSG00000089225		"""T-boxes"""	"""T-boxes"""	11604	11604	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601620	601620		HOS		HOS		8988165, 8054982	8988165, 8054982	Standard	Standard	NM_000192	NM_000192		Approved		uc001tvo.4	uc001tvo.4	Q99593	Q99593	OTTHUMG00000166191	OTTHUMG00000166191	ENST00000310346.4:c.743C>G	12.37:g.114823293G>C	ENSP00000309913:p.Ser248*		TBX5_ENST00000349716.5_Nonsense_Mutation_p.S198*|TBX5_ENST00000526441.1_Nonsense_Mutation_p.S248*|TBX5_ENST00000405440.2_Nonsense_Mutation_p.S248*	p.S248*	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	7	1409	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		248		A6ND77|O15301|Q96TB0|Q9Y4I2	Nonsense_Mutation	SNP	ENST00000310346.4	37	c.743C>G	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	43	10.149025	0.99348	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	.	.	.	5.27	5.27	0.74061	5.27	5.27	0.74061	.	0.193142	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.8883	0.92388	0.0:0.0:1.0:0.0	.	.	.	.	X	198;248;145;248;248	.	ENSP00000309913:S248X	S	-	2	0	0	TBX5	113307676	113307676	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	9.363000	0.97131	2.472000	0.83506	0.563000	0.77884	TCA		0.478	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1		133.891157	3	3	119	119	NM_080717		40	134.132857	134.132857	50	0.444444	0	0	0	1	0	40	50	0.444444
KIAA0196	9897	broad.mit.edu	37	8	126094695	126094695	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EO-01A-12D-A39W-08	TCGA-V4-A9EO-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54dfe8e-ee48-41ae-9981-7af83d4cdfd4	3431d1f6-4c22-4c7b-bb6e-172762efe5fe	g.chr8:126094695A>G	ENST00000318410.7	-	4	696	c.347T>C	c.(346-348)cTc>cCc	p.L116P	KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	116					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CCCTTCATTGAGATCATCTAG	0.264																																						ENST00000318410.7											0			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42						c.(346-348)cTc>cCc	KIAA0196						60.0	60.0	60.0					8																	126094695		2201	4290	6491	SO:0001583	missense	9897			cell death	WASH complex		g.chr8:126094695A>G			CCDS6355.1	CCDS6355.1	8q24.13	2014-05-09			2014-05-09			ENSG00000164961	ENSG00000164961	ENSG00000164961	ENSG00000164961				28984	28984	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""strumpellin"""	"""strumpellin"""	610657	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	9973294, 17160902, 23085491	Standard	Standard	NM_014846	NM_014846		Approved		uc003yrt.3	uc003yrt.3	Q12768	Q12768	OTTHUMG00000164991	OTTHUMG00000164991	ENST00000318410.7:c.347T>C	8.37:g.126094695A>G	ENSP00000318016:p.Leu116Pro		KIAA0196_ENST00000517845.1_5'UTR|KIAA0196_ENST00000521109.1_5'UTR	p.L116P	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		4	696	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		116		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.347T>C	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.284335	0.80803	.	.	ENSG00000164961	ENST00000318410	D	0.88664	-2.41	5.59	5.59	0.84812	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	M	0.84948	2.725	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.95600	0.8662	10	0.87932	D	0	-15.0152	15.7537	0.78009	1.0:0.0:0.0:0.0	.	116	Q12768	STRUM_HUMAN	P	116	ENSP00000318016:L116P	ENSP00000318016:L116P	L	-	2	0	0	KIAA0196	126163877	126163877	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.057000	0.93889	2.114000	0.64651	0.460000	0.39030	CTC		0.264	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1		208.902668	-10	-10	115	115	NM_014846		64	208.930641	208.930641	60	0.516129	0	0	0	1	0	64	60	0.516129
