#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
C3orf14	57415	broad.mit.edu	37	3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388																																						ENST00000494481.1																			1	Substitution - Missense(1)	p.R77W(1)	lung(1)	central_nervous_system(1)|large_intestine(1)|lung(1)	3						c.(229-231)Cgg>Tgg		chromosome 3 open reading frame 14							113.0	111.0	112.0					3																	62317051		2203	4300	6503	SO:0001583	missense	57415							g.chr3:62317051C>T	AF236158	CCDS2896.1	3p14.2	2011-11-29			ENSG00000114405	ENSG00000114405			25024	protein-coding gene	gene with protein product						12477932	Standard	XM_005265338		Approved	HT021	uc003dlg.3	Q9HBI5	OTTHUMG00000158704	ENST00000494481.1:c.229C>T	3.37:g.62317051C>T	ENSP00000418086:p.Arg77Trp					C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	p.R77W			Q9HBI5	CC014_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)	5	543	+			77					B2R9U0	Missense_Mutation	SNP	ENST00000494481.1	37	c.229C>T	CCDS2896.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399513	0.42512	.	.	ENSG00000114405	ENST00000462069;ENST00000232519;ENST00000494481;ENST00000542214	.	.	.	6.12	3.33	0.38152	.	1.224480	0.05667	N	0.587906	T	0.24812	0.0602	N	0.19112	0.55	0.09310	N	1	D	0.62365	0.991	B	0.43123	0.409	T	0.25222	-1.0138	9	0.62326	D	0.03	-8.7862	9.3099	0.37898	0.0:0.771:0.0:0.229	.	77	Q9HBI5	CC014_HUMAN	W	77	.	ENSP00000232519:R77W	R	+	1	2	C3orf14	62292091	0.005000	0.15991	0.000000	0.03702	0.874000	0.50279	0.593000	0.23999	0.445000	0.26639	0.644000	0.83932	CGG		0.388	C3orf14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351807.1	NM_020685		17	102	0	0	0	1	0	17	102				
PCDHB8	56128	broad.mit.edu	37	5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	ENST00000239444.2	+	1	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	255	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(763-765)gaC>gaG									209.0	277.0	254.0					5																	140558380		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140558380C>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.765C>G	5.37:g.140558380C>G	ENSP00000239444:p.Asp255Glu						p.D255E	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1010	+			255			Cadherin 3.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.765C>G	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	c	14.24	2.475493	0.43942	.	.	ENSG00000120322	ENST00000239444	T	0.51071	0.72	4.25	-1.3	0.09259	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47432	0.1445	L	0.58510	1.815	0.25901	N	0.983354	P	0.36712	0.566	B	0.42959	0.403	T	0.50816	-0.8783	9	0.87932	D	0	.	10.0684	0.42317	0.0:0.4792:0.0:0.5208	.	255	Q9UN66	PCDB8_HUMAN	E	255	ENSP00000239444:D255E	ENSP00000239444:D255E	D	+	3	2	PCDHB8	140538564	0.000000	0.05858	0.941000	0.38009	0.675000	0.39556	-0.776000	0.04674	-0.185000	0.10550	-0.237000	0.12165	GAC		0.468	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		27	162	0	0	0	1	0	27	162				
COMMD9	29099	broad.mit.edu	37	11	36296235	36296235	+	Missense_Mutation	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:36296235A>T	ENST00000263401.5	-	6	560	c.544T>A	c.(544-546)Tta>Ata	p.L182I	LINC00610_ENST00000355500.1_lincRNA|COMMD9_ENST00000532705.1_Missense_Mutation_p.V170D|COMMD9_ENST00000452374.2_Missense_Mutation_p.L140I|COMMD9_ENST00000533308.1_5'Flank	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	182	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGCCATCTAACATGGTGTCC	0.562																																						ENST00000263401.5																			0				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5						c.(544-546)Tta>Ata		COMM domain containing 9							167.0	139.0	149.0					11																	36296235		2202	4298	6500	SO:0001583	missense	29099							g.chr11:36296235A>T	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.544T>A	11.37:g.36296235A>T	ENSP00000263401:p.Leu182Ile					COMMD9_ENST00000532705.1_Missense_Mutation_p.V170D|COMMD9_ENST00000452374.2_Missense_Mutation_p.L140I	p.L182I	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN			6	560	-	all_lung(20;0.211)	all_hematologic(20;0.107)	182			COMM.		E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	c.544T>A	CCDS7900.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.917313|1.917313	0.33815|0.33815	.|.	.|.	ENSG00000110442|ENSG00000110442	ENST00000263401;ENST00000452374|ENST00000532705	T;T|.	0.13089|.	2.62;2.62|.	5.66|5.66	-0.581|-0.581	0.11713|0.11713	COMM domain (1);|.	0.070103|.	0.64402|.	D|.	0.000020|.	T|T	0.71031|0.71031	0.3292|0.3292	M|M	0.78223|0.78223	2.4|2.4	0.42017|0.42017	D|D	0.990964|0.990964	D;D|.	0.76494|.	0.99;0.999|.	P;D|.	0.87578|.	0.713;0.998|.	T|T	0.73871|0.73871	-0.3846|-0.3846	10|6	0.37606|0.87932	T|D	0.19|0	-8.6822|-8.6822	10.7153|10.7153	0.46008|0.46008	0.3875:0.0:0.6125:0.0|0.3875:0.0:0.6125:0.0	.|.	140;182|.	Q9P000-2;Q9P000|.	.;COMD9_HUMAN|.	I|D	182;140|170	ENSP00000263401:L182I;ENSP00000392510:L140I|.	ENSP00000263401:L182I|ENSP00000435599:V170D	L|V	-|-	1|2	2|0	COMMD9|COMMD9	36252811|36252811	0.780000|0.780000	0.28664|0.28664	0.992000|0.992000	0.48379|0.48379	0.944000|0.944000	0.59088|0.59088	-0.157000|-0.157000	0.10085|0.10085	0.084000|0.084000	0.17077|0.17077	0.533000|0.533000	0.62120|0.62120	TTA|GTT		0.562	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389196.1	NM_014186		4	141	0	0	0	1	0	4	141				
TRIM60	166655	broad.mit.edu	37	4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	ENST00000512596.1	+	3	1509	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I|TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	431	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1291-1293)atG>atA		tripartite motif containing 60							73.0	80.0	78.0					4																	165962517		2203	4300	6503	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165962517G>A	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1293G>A	4.37:g.165962517G>A	ENSP00000421142:p.Met431Ile					TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I	p.M431I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1509	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	431			B30.2/SPRY.		Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.1293G>A	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311939	0.23821	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.68479	-0.33;-0.33;-0.33	2.69	1.84	0.25277	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.282380	0.06503	U	0.736640	T	0.51805	0.1696	L	0.29908	0.895	0.09310	N	1	P	0.38395	0.629	B	0.35727	0.209	T	0.37686	-0.9695	10	0.24483	T	0.36	.	7.7188	0.28721	0.135:0.0:0.865:0.0	.	431	Q495X7	TRI60_HUMAN	I	431	ENSP00000421142:M431I;ENSP00000426496:M431I;ENSP00000343765:M431I	ENSP00000343765:M431I	M	+	3	0	TRIM60	166181967	0.000000	0.05858	0.029000	0.17559	0.517000	0.34286	-1.203000	0.03019	0.694000	0.31654	-0.136000	0.14681	ATG		0.373	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		6	89	0	0	0	1	0	6	89				
OR51E1	143503	broad.mit.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	ENST00000396952.5	+	2	1380	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V243I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498																																						ENST00000396952.5																			1	Substitution - Missense(1)	p.V243I(1)	large_intestine(1)	NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30						c.(730-732)Gtc>Atc		olfactory receptor, family 51, subfamily E, member 1		G	ILE/VAL	0,4402		0,0,2201	243.0	229.0	234.0		730	4.0	1.0	11	dbSNP_134	234	3,8593	3.0+/-9.4	0,3,4295	yes	missense	OR51E1	NM_152430.3	29	0,3,6496	AA,AG,GG		0.0349,0.0,0.0231	possibly-damaging	244/319	4674486	3,12995	2201	4298	6499	SO:0001583	missense	143503				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4674486G>A	AY775731	CCDS31358.2	11p15.4	2012-08-22	2004-11-03	2004-11-06	ENSG00000180785	ENSG00000180785		"""GPCR / Class A : Olfactory receptors"""	15194	protein-coding gene	gene with protein product		611267	"""olfactory receptor, family 51, subfamily E, member 1 pseudogene"""	OR51E1P, OR52A3P, GPR164			Standard	NM_152430		Approved	GPR136	uc001lzi.4	Q8TCB6	OTTHUMG00000157024	ENST00000396952.5:c.730G>A	11.37:g.4674486G>A	ENSP00000380155:p.Val244Ile					OR51E1_ENST00000530215.1_Intron	p.V244I	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)	2	1380	+		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	243					A8KAM6|Q5S4P5|Q66X57|Q6IF93	Missense_Mutation	SNP	ENST00000396952.5	37	c.730G>A	CCDS31358.2	.	.	.	.	.	.	.	.	.	.	G	9.642	1.139187	0.21205	0.0	3.49E-4	ENSG00000180785	ENST00000396952	T	0.37584	1.19	4.89	3.98	0.46160	GPCR, rhodopsin-like superfamily (1);	0.255092	0.27563	N	0.018809	T	0.18551	0.0445	N	0.20881	0.62	0.80722	D	1	P	0.43826	0.818	B	0.37239	0.244	T	0.05007	-1.0912	10	0.07644	T	0.81	.	9.4332	0.38624	0.1719:0.0:0.8281:0.0	.	243	Q8TCB6	O51E1_HUMAN	I	244	ENSP00000380155:V244I	ENSP00000380155:V244I	V	+	1	0	OR51E1	4631062	0.000000	0.05858	1.000000	0.80357	0.830000	0.47004	0.514000	0.22786	1.435000	0.47434	0.655000	0.94253	GTC		0.498	OR51E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347136.2	NM_152430		13	75	0	0	0	1	0	13	75				
FAM71B	153745	broad.mit.edu	37	5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	ENST00000302938.4	-	2	1569	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	492						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512																																						ENST00000302938.4																			0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1474-1476)Cga>Tga		family with sequence similarity 71, member B							226.0	217.0	220.0					5																	156589802		2203	4300	6503	SO:0001587	stop_gained	153745					nucleus		g.chr5:156589802G>A		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1474C>T	5.37:g.156589802G>A	ENSP00000305596:p.Arg492*						p.R492*	NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1569	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	492					Q1EDD9|Q8TC64|Q96LY8	Nonsense_Mutation	SNP	ENST00000302938.4	37	c.1474C>T	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840852	0.71488	.	.	ENSG00000170613	ENST00000302938	.	.	.	4.52	-3.46	0.04767	.	1.401120	0.05414	N	0.542942	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8342	6.7596	0.23532	0.0:0.2424:0.1475:0.6101	.	.	.	.	X	492	.	ENSP00000305596:R492X	R	-	1	2	FAM71B	156522380	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.532000	0.06164	-0.645000	0.05458	-1.289000	0.01358	CGA		0.512	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		16	109	0	0	0	1	0	16	109				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	35	0	0	0	1	0	4	35				
ATP1A2	477	broad.mit.edu	37	1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1072-1074)Aac>Gac		ATPase, Na+/K+ transporting, alpha 2 polypeptide							108.0	96.0	100.0					1																	160098496		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098496A>G	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1072A>G	1.37:g.160098496A>G	ENSP00000354490:p.Asn358Asp					ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D|ATP1A2_ENST00000472488.1_3'UTR	p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1161	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		358					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.1072A>G	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	A	29.3	4.994443	0.93167	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.88896	-2.44;-2.44	4.77	4.77	0.60923	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.92299	0.7557	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.93459	0.6809	10	0.87932	D	0	.	13.5914	0.61961	1.0:0.0:0.0:0.0	.	203;358;258;358	B4DHD7;B1AKY9;F5GXJ7;P50993	.;.;.;AT1A2_HUMAN	D	203;358;358;61	ENSP00000354490:N358D;ENSP00000376066:N358D	ENSP00000354490:N358D	N	+	1	0	ATP1A2	158365120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.264000	0.95635	1.912000	0.55364	0.459000	0.35465	AAC		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		4	131	0	0	0	1	0	4	131				
WRN	7486	broad.mit.edu	37	8	30938764	30938764	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	ENST00000298139.5	+	9	1470	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	407					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTGGAACAGCAGTCTCAGG	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1219-1221)caG>caA	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							85.0	87.0	87.0					8																	30938764		2203	4300	6503	SO:0001819	synonymous_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30938764G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1221G>A	8.37:g.30938764G>A							p.Q407Q	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	9	1470	+		Breast(100;0.195)	407					A1KYY9	Silent	SNP	ENST00000298139.5	37	c.1221G>A	CCDS6082.1																																																																																				0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	78	0	0	0	1	0	6	78				
CLN5	1203	broad.mit.edu	37	13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	ENST00000377453.3	+	3	1834	c.542C>T	c.(541-543)aCa>aTa	p.T181I	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	132					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423																																						ENST00000377453.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16						c.(541-543)aCa>aTa		ceroid-lipofuscinosis, neuronal 5							201.0	170.0	181.0					13																	77570092		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570092C>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.542C>T	13.37:g.77570092C>T	ENSP00000366673:p.Thr181Ile					CLN5_ENST00000485938.1_3'UTR	p.T181I	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	1834	+		Acute lymphoblastic leukemia(28;0.205)	132					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.542C>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228067	0.95173	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.90197	-2.63	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95657	0.8712	10	0.87932	D	0	-17.5531	19.4882	0.95039	0.0:1.0:0.0:0.0	.	132	O75503	CLN5_HUMAN	I	181;132;47	ENSP00000366673:T181I	ENSP00000366673:T181I	T	+	2	0	CLN5	76468093	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.818000	0.86416	2.618000	0.88619	0.563000	0.77884	ACA		0.423	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		11	172	0	0	0	1	0	11	172				
TPM1	7168	broad.mit.edu	37	15	63362113	63362113	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:63362113G>A	ENST00000334895.5	+	8	919	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	TPM1_ENST00000357980.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.E237K|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|RP11-244F12.2_ENST00000558905.1_RNA	NM_001018008.1	NP_001018008.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	273					cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACTAATGAACTAAAGCT	0.458																																						ENST00000334895.5																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(709-711)Gaa>Aaa		tropomyosin 1 (alpha)							94.0	88.0	90.0					15																	63362113		2203	4300	6503	SO:0001583	missense	7168				cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle	g.chr15:63362113G>A	AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000334895.5:c.709G>A	15.37:g.63362113G>A	ENSP00000334624:p.Glu237Lys					TPM1_ENST00000559397.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.E237K|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000404484.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Intron	p.E237K	NM_001018008.1	NP_001018008.1	P09493	TPM1_HUMAN			8	919	+			273					B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Missense_Mutation	SNP	ENST00000334895.5	37	c.709G>A	CCDS32264.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.720412	0.68959	.	.	ENSG00000140416	ENST00000404484;ENST00000334895	D	0.81659	-1.52	6.07	5.16	0.70880	.	.	.	.	.	D	0.83848	0.5343	M	0.84156	2.68	0.34378	D	0.692798	B;B	0.16802	0.019;0.002	B;B	0.32211	0.142;0.018	D	0.86552	0.1835	9	0.62326	D	0.03	.	13.2987	0.60313	0.0:0.2214:0.7786:0.0	.	237;237	D9YZV7;Q1ZYL5	.;.	K	295;237	ENSP00000334624:E237K	ENSP00000334624:E237K	E	+	1	0	TPM1	61149166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.064000	0.71169	1.586000	0.49944	0.655000	0.94253	GAA		0.458	TPM1-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417095.3	NM_001018004		6	91	0	0	0	1	0	6	91				
ADAMTS7	11173	broad.mit.edu	37	15	79059041	79059041	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:79059041T>C	ENST00000388820.4	-	19	3422	c.3212A>G	c.(3211-3213)aAt>aGt	p.N1071S	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.N1071S(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCGTGGAAATTGATGAAATT	0.617																																						ENST00000388820.4																			4	Substitution - Missense(4)	p.N1071S(4)	lung(2)|kidney(2)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(3211-3213)aAt>aGt		ADAM metallopeptidase with thrombospondin type 1 motif, 7																																				SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059041T>C	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3212A>G	15.37:g.79059041T>C	ENSP00000373472:p.Asn1071Ser						p.N1071S	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN			19	3422	-			1071					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.3212A>G	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	t	16.38	3.107658	0.56291	.	.	ENSG00000136378	ENST00000388820	T	0.61742	0.08	4.66	2.13	0.27403	.	0.056036	0.64402	D	0.000002	T	0.59252	0.2180	M	0.76002	2.32	0.35198	D	0.774007	P	0.48503	0.911	P	0.46144	0.505	T	0.66571	-0.5890	10	0.41790	T	0.15	.	10.1871	0.43004	0.0:0.0:0.3202:0.6798	.	1071	Q9UKP4	ATS7_HUMAN	S	1071	ENSP00000373472:N1071S	ENSP00000373472:N1071S	N	-	2	0	ADAMTS7	76846096	1.000000	0.71417	0.986000	0.45419	0.484000	0.33280	3.143000	0.50608	0.107000	0.17824	0.367000	0.22151	AAT		0.617	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		5	49	0	0	0	1	0	5	49				
HMCN1	83872	broad.mit.edu	37	1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	ENST00000271588.4	+	16	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	827	Ig-like C2-type 5.				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						ATCAAATGGCGAAGATTAGAC	0.378																																						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.(2479-2481)cGa>cAa		hemicentin 1							146.0	141.0	143.0					1																	185947027		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185947027G>A	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.2480G>A	1.37:g.185947027G>A	ENSP00000271588:p.Arg827Gln					HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q|HMCN1_ENST00000485744.1_3'UTR	p.R827Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			16	2709	+			827			Ig-like C2-type 5.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.2480G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598424	0.46318	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.29917	1.55;1.55	5.89	4.04	0.47022	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.114841	0.56097	N	0.000024	T	0.27559	0.0677	L	0.51422	1.61	0.45995	D	0.9988	B;B	0.23442	0.085;0.004	B;B	0.24974	0.057;0.007	T	0.04005	-1.0985	10	0.28530	T	0.3	.	10.6319	0.45541	0.2043:0.0:0.7957:0.0	.	211;827	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	Q	827	ENSP00000271588:R827Q;ENSP00000356462:R827Q	ENSP00000271588:R827Q	R	+	2	0	HMCN1	184213650	1.000000	0.71417	0.713000	0.30519	0.849000	0.48306	2.234000	0.43035	0.839000	0.34971	0.655000	0.94253	CGA		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		13	91	0	0	0	1	0	13	91				
CYYR1	116159	broad.mit.edu	37	21	27852702	27852702	+	Missense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:27852702C>A	ENST00000299340.4	-	3	566	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Missense_Mutation_p.G75W|CYYR1_ENST00000435845.2_3'UTR	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	75						integral component of membrane (GO:0016021)				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAATGACCCCCATGATAAAT	0.463																																						ENST00000299340.4																			0				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						c.(223-225)Ggg>Tgg		cysteine/tyrosine-rich 1							144.0	129.0	134.0					21																	27852702		2203	4300	6503	SO:0001583	missense	116159					integral to membrane		g.chr21:27852702C>A	AY061853	CCDS13578.1	21q21.2	2014-07-04	2005-07-24		ENSG00000166265	ENSG00000166265			16274	protein-coding gene	gene with protein product			"""cysteine and tyrosine-rich 1"""	C21orf95		12036297, 12062809, 24981926	Standard	NM_052954		Approved		uc002ymd.3	Q96J86	OTTHUMG00000078689	ENST00000299340.4:c.223G>T	21.37:g.27852702C>A	ENSP00000299340:p.Gly75Trp					AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|CYYR1_ENST00000400043.3_Missense_Mutation_p.G75W|AP001597.1_ENST00000414486.1_RNA	p.G75W	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN			3	566	-			75					A0A059TD09|A8MTU9|B2R845|Q53ER3|Q5JPD0|Q96NV7|R9QAJ4|W8CQB3	Missense_Mutation	SNP	ENST00000299340.4	37	c.223G>T	CCDS13578.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156546	0.78114	.	.	ENSG00000166265	ENST00000299340;ENST00000400043	T;T	0.51574	0.7;0.7	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71048	-0.4705	10	0.87932	D	0	-11.6806	17.5128	0.87765	0.0:1.0:0.0:0.0	.	75;75	Q96J86-2;Q96J86	.;CYYR1_HUMAN	W	75	ENSP00000299340:G75W;ENSP00000382918:G75W	ENSP00000299340:G75W	G	-	1	0	CYYR1	26774573	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	5.907000	0.69908	2.646000	0.89796	0.585000	0.79938	GGG		0.463	CYYR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171654.2	NM_052954		7	147	1	0	2.52707e-12	1	2.8678e-12	7	147				
ROS1	6098	broad.mit.edu	37	6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	ENST00000368508.3	-	20	3301	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030*	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1035	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1035*(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	2	Substitution - Nonsense(2)	p.R1035*(2)	skin(2)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3103-3105)Cga>Tga		c-ros oncogene 1 , receptor tyrosine kinase							90.0	92.0	91.0					6																	117686238		2203	4300	6503	SO:0001587	stop_gained	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686238G>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3103C>T	6.37:g.117686238G>A	ENSP00000357494:p.Arg1035*					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030*	p.R1035*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	20	3301	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1035			Fibronectin type-III 4.		Q15368|Q5TDB5	Nonsense_Mutation	SNP	ENST00000368508.3	37	c.3103C>T	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	43	10.025021	0.99320	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.37	3.43	0.39272	.	0.129901	0.34484	N	0.003937	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5198	0.27622	0.0791:0.0:0.6471:0.2738	.	.	.	.	X	1035;1030	.	ENSP00000357493:R1030X	R	-	1	2	ROS1	117792931	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.645000	0.46621	2.494000	0.84150	0.655000	0.94253	CGA		0.378	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	81	0	0	0	1	0	13	81				
C5orf42	65250	broad.mit.edu	37	5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	ENST00000508244.1	-	33	7034	c.6941A>G	c.(6940-6942)cAt>cGt	p.H2314R	C5orf42_ENST00000274258.7_Missense_Mutation_p.H1194R|C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2314						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373																																						ENST00000274258.7																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(3580-3582)cAt>cGt		chromosome 5 open reading frame 42							143.0	148.0	146.0					5																	37169185		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37169185T>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6941A>G	5.37:g.37169185T>C	ENSP00000421690:p.His2314Arg					C5orf42_ENST00000508244.1_Missense_Mutation_p.H2314R|C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R	p.H1194R			E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		34	7168	-	all_lung(31;0.000616)		2314					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.3581A>G	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411141	0.62399	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.38240	1.27;1.27;1.15;1.19	5.43	2.94	0.34122	.	0.526063	0.17208	N	0.182850	T	0.32255	0.0823	L	0.57536	1.79	0.18873	N	0.999985	B;B	0.32382	0.125;0.368	B;B	0.32677	0.111;0.15	T	0.28996	-1.0026	10	0.87932	D	0	.	6.3072	0.21145	0.1401:0.0755:0.0:0.7844	.	2314;1194	E9PH94;Q9H799	.;CE042_HUMAN	R	2314;2314;1194;1362;1194	ENSP00000421690:H2314R;ENSP00000389014:H2314R;ENSP00000274258:H1194R;ENSP00000424223:H1362R	ENSP00000274258:H1194R	H	-	2	0	C5orf42	37204942	0.984000	0.35163	0.004000	0.12327	0.868000	0.49771	2.146000	0.42216	0.316000	0.23135	0.533000	0.62120	CAT		0.373	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073		11	92	0	0	0	1	0	11	92				
MICB	4277	broad.mit.edu	37	6	31473999	31473999	+	Silent	SNP	C	C	T	rs368877373		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31473999C>T	ENST00000252229.6	+	3	484	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MICB_ENST00000538442.1_Silent_p.Y103Y|MICB_ENST00000399150.3_Intron	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATTTCTACTACGATGGGGAGC	0.552																																						ENST00000252229.6																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						c.(403-405)taC>taT		MHC class I polypeptide-related sequence B		A		1,3817		0,1,1908	48.0	50.0	49.0		405	-4.7	0.0	6		49	0,8224		0,0,4112	no	coding-synonymous	MICB	NM_005931.3		0,1,6020	TT,TC,CC		0.0,0.0262,0.0083		135/384	31473999	1,12041	1909	4112	6021	SO:0001819	synonymous_variant	4277				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31473999C>T		CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.405C>T	6.37:g.31473999C>T						MICB_ENST00000399150.3_Intron|MICB_ENST00000538442.1_Silent_p.Y103Y	p.Y135Y	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN			3	484	+			135						Silent	SNP	ENST00000252229.6	37	c.405C>T	CCDS43449.1																																																																																				0.552	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076102.3	NM_005931		4	46	0	0	0	1	0	4	46				
ZXDA	7789	broad.mit.edu	37	X	57934557	57934557	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:57934557C>T	ENST00000358697.4	-	1	2510	c.2298G>A	c.(2296-2298)caG>caA	p.Q766Q		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	766					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTTCTCCCTCCTGTCCAAAGA	0.468																																						ENST00000358697.4																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						c.(2296-2298)caG>caA		zinc finger, X-linked, duplicated A							121.0	104.0	110.0					X																	57934557		2203	4300	6503	SO:0001819	synonymous_variant	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57934557C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.2298G>A	X.37:g.57934557C>T							p.Q766Q	NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN			1	2510	-			766					Q9UJP7	Silent	SNP	ENST00000358697.4	37	c.2298G>A	CCDS14376.1																																																																																				0.468	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156		4	121	0	0	0	1	0	4	121				
C7	730	broad.mit.edu	37	5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	ENST00000313164.9	+	4	622	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	88	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423																																						ENST00000313164.9																			0											c.(262-264)cGt>cAt		complement component 7							226.0	228.0	227.0					5																	40934551		1945	4163	6108	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40934551G>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.263G>A	5.37:g.40934551G>A	ENSP00000322061:p.Arg88His						p.R88H	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN			4	622	+		Ovarian(839;0.0112)	88			LDL-receptor class A.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.263G>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255772	0.80135	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	D	0.95412	-3.7	5.9	4.96	0.65561	.	0.052987	0.64402	D	0.000001	D	0.96762	0.8943	L	0.55743	1.74	0.48185	D	0.999606	D	0.89917	1.0	D	0.73380	0.98	D	0.96476	0.9352	10	0.52906	T	0.07	-31.6846	16.802	0.85617	0.0:0.0:0.8627:0.1373	.	88	P10643	CO7_HUMAN	H	88	ENSP00000322061:R88H	ENSP00000322061:R88H	R	+	2	0	C7	40970308	0.997000	0.39634	1.000000	0.80357	0.983000	0.72400	4.544000	0.60691	2.798000	0.96311	0.650000	0.86243	CGT		0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			27	170	0	0	0	1	0	27	170				
SPINK5	11005	broad.mit.edu	37	5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	ENST00000256084.7	+	19	1754	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H|SPINK5_ENST00000359874.3_Missense_Mutation_p.R571H	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	571	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433																																						ENST00000359874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64						c.(1711-1713)cGt>cAt		serine peptidase inhibitor, Kazal type 5							132.0	129.0	130.0					5																	147491350		1948	4139	6087	SO:0001583	missense	11005				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	g.chr5:147491350G>A	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.1712G>A	5.37:g.147491350G>A	ENSP00000256084:p.Arg571His					SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H|SPINK5_ENST00000256084.7_Missense_Mutation_p.R571H	p.R571H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	1785	+			571			Kazal-like 9.		A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	c.1712G>A	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243760	0.39697	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	4.52	3.63	0.41609	Proteinase inhibitor I1, Kazal (1);	0.157943	0.30134	N	0.010336	T	0.10508	0.0257	L	0.55103	1.725	0.23293	N	0.997966	B;P;P;B	0.50443	0.015;0.935;0.893;0.356	B;P;B;B	0.44860	0.017;0.462;0.273;0.111	T	0.13361	-1.0512	10	0.42905	T	0.14	-15.2539	9.0879	0.36592	0.1001:0.0:0.8999:0.0	.	552;571;571;571	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	H	571;571;552;571	ENSP00000381472:R571H;ENSP00000352936:R571H;ENSP00000421519:R552H;ENSP00000256084:R571H	ENSP00000256084:R571H	R	+	2	0	SPINK5	147471543	0.161000	0.22892	0.812000	0.32479	0.918000	0.54935	2.743000	0.47442	1.472000	0.48140	0.650000	0.86243	CGT		0.433	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2	NM_001127698		17	79	0	0	0	1	0	17	79				
DUS2	54920	broad.mit.edu	37	16	68100526	68100526	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:68100526G>A	ENST00000565263.1	+	10	1035	c.541G>A	c.(541-543)Gca>Aca	p.A181T	DUS2_ENST00000432752.1_Missense_Mutation_p.A146T|DUS2_ENST00000358896.6_Missense_Mutation_p.A181T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN	dihydrouridine synthase 2	181					negative regulation of cell death (GO:0060548)|negative regulation of protein kinase activity (GO:0006469)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	double-stranded RNA binding (GO:0003725)|flavin adenine dinucleotide binding (GO:0050660)|protein kinase inhibitor activity (GO:0004860)|tRNA dihydrouridine synthase activity (GO:0017150)										TGCTGCCATCGCAGTTCATGG	0.517																																						ENST00000565263.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						c.(541-543)Gca>Aca									193.0	181.0	185.0					16																	68100526		2198	4300	6498	SO:0001583	missense	0				tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr16:68100526G>A		CCDS10859.1, CCDS61970.1	16q22.1	2013-07-23	2013-07-23	2013-07-23	ENSG00000167264	ENSG00000167264			26014	protein-coding gene	gene with protein product	"""SMM1 homolog (S. cerevisiae)"""	609707	"""dihydrouridine synthase 2-like (SMM1, S. cerevisiae)"", ""dihydrouridine synthase 2-like, SMM1 homolog (S. cerevisiae)"", ""dihydrouridine synthase 2-like"""	DUS2L		15994936, 22741570	Standard	NM_017803		Approved	FLJ20399, SMM1	uc002evj.4	Q9NX74	OTTHUMG00000137538	ENST00000565263.1:c.541G>A	16.37:g.68100526G>A	ENSP00000455229:p.Ala181Thr					DUS2L_ENST00000358896.6_Missense_Mutation_p.A181T|DUS2L_ENST00000432752.1_Missense_Mutation_p.A146T	p.A181T	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)	10	1035	+		Ovarian(137;0.192)	181					A8K3G3|Q4H4D9	Missense_Mutation	SNP	ENST00000565263.1	37	c.541G>A	CCDS10859.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685794	0.47991	.	.	ENSG00000167264	ENST00000358896;ENST00000432752	T;T	0.23950	1.88;1.88	6.03	-0.858	0.10689	Aldolase-type TIM barrel (1);	0.370660	0.29653	N	0.011554	T	0.14743	0.0356	N	0.26162	0.8	0.42996	D	0.994508	B;B	0.24576	0.106;0.003	B;B	0.30572	0.117;0.02	T	0.15752	-1.0426	10	0.11794	T	0.64	-42.8682	9.4392	0.38657	0.4716:0.0:0.5284:0.0	.	146;181	E7EUN9;Q9NX74	.;DUS2L_HUMAN	T	181;146	ENSP00000351769:A181T;ENSP00000409498:A146T	ENSP00000351769:A181T	A	+	1	0	DUS2L	66658027	0.989000	0.36119	0.130000	0.21974	0.884000	0.51177	2.437000	0.44828	-0.129000	0.11620	-0.234000	0.12200	GCA		0.517	DUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268869.2	NM_017803		5	227	0	0	0	1	0	5	227				
RYR1	6261	broad.mit.edu	37	19	38976395	38976395	+	Silent	SNP	G	G	T	rs367860602		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:38976395G>T	ENST00000359596.3	+	34	5100	c.5100G>T	c.(5098-5100)gcG>gcT	p.A1700A	RYR1_ENST00000360985.3_Silent_p.A1700A|RYR1_ENST00000355481.4_Silent_p.A1700A			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1700	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGAGGACGCGCACCTGCCAG	0.652																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(5098-5100)gcG>gcT		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						52.0	53.0	53.0					19																	38976395		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38976395G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.5100G>T	19.37:g.38976395G>T						RYR1_ENST00000360985.3_Silent_p.A1700A|RYR1_ENST00000359596.3_Silent_p.A1700A	p.A1700A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		34	5231	+	all_cancers(60;7.91e-06)		1700			6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.5100G>T	CCDS33011.1																																																																																				0.652	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	126	1	0	0.0293803	1	0.0299739	5	126				
GRIN2B	2904	broad.mit.edu	37	12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13906702G>A	ENST00000609686.1	-	3	768	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	187					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.R187C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGGTGCTGCGGATCTTGTTT	0.473																																						ENST00000279593.3																			1	Substitution - Missense(1)	p.R187C(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(559-561)Cgc>Tgc		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						128.0	123.0	125.0					12																	13906702		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906702G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.559C>T	12.37:g.13906702G>A	ENSP00000477455:p.Arg187Cys						p.R187C	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			3	768	-			187					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.559C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566221	0.86439	.	.	ENSG00000150086	ENST00000279593	D	0.83591	-1.74	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90916	0.7145	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.92014	0.5620	10	0.87932	D	0	.	18.5808	0.91170	0.0:0.0:1.0:0.0	.	187	Q13224	NMDE2_HUMAN	C	187	ENSP00000279593:R187C	ENSP00000279593:R187C	R	-	1	0	GRIN2B	13797969	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.447000	0.73465	2.373000	0.80994	0.561000	0.74099	CGC		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			8	124	0	0	0	1	0	8	124				
TRIOBP	11078	broad.mit.edu	37	22	38120282	38120282	+	Silent	SNP	C	C	T	rs368233775	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr22:38120282C>T	ENST00000406386.3	+	7	1974	c.1719C>T	c.(1717-1719)gaC>gaT	p.D573D		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCACACGAGACAACCCCAGAA	0.587													-|||	10	0.00199681	0.0061	0.0	5008	,	,		27740	0.001		0.001	False		,,,				2504	0.0					ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1717-1719)gaC>gaT		TRIO and F-actin binding protein		C		7,3759		0,7,1876	56.0	91.0	80.0		1719	-4.7	0.0	22		80	3,8255		0,3,4126	no	coding-synonymous	TRIOBP	NM_001039141.2		0,10,6002	TT,TC,CC		0.0363,0.1859,0.0832		573/2366	38120282	10,12014	1883	4129	6012	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120282C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1719C>T	22.37:g.38120282C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.D573D	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1974	+	Melanoma(58;0.0574)		573					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1719C>T	CCDS43015.1																																																																																				0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			5	249	0	0	0	1	0	5	249				
RP1	6101	broad.mit.edu	37	8	55533746	55533746	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:55533746G>T	ENST00000220676.1	+	2	368	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	74	Doublecortin 1. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCCAGGAAGGTGCCCCTCCC	0.597																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(220-222)Gtg>Ttg		retinitis pigmentosa 1 (autosomal dominant)							123.0	97.0	106.0					8																	55533746		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533746G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.220G>T	8.37:g.55533746G>T	ENSP00000220676:p.Val74Leu						p.V74L	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	368	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	74			Doublecortin 1.			Missense_Mutation	SNP	ENST00000220676.1	37	c.220G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033348	0.75504	.	.	ENSG00000104237	ENST00000220676	D	0.94650	-3.48	5.25	4.37	0.52481	Doublecortin domain (5);	0.123114	0.36740	N	0.002422	D	0.96150	0.8745	M	0.66439	2.03	0.46954	D	0.99926	D	0.71674	0.998	D	0.66716	0.946	D	0.96081	0.9054	10	0.66056	D	0.02	-10.2763	13.2372	0.59976	0.0767:0.0:0.9233:0.0	.	74	P56715	RP1_HUMAN	L	74	ENSP00000220676:V74L	ENSP00000220676:V74L	V	+	1	0	RP1	55696299	1.000000	0.71417	0.985000	0.45067	0.636000	0.38137	6.687000	0.74552	2.450000	0.82876	0.585000	0.79938	GTG		0.597	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		11	169	1	0	9.05144e-12	1	1.01577e-11	11	169				
MAGI2	9863	broad.mit.edu	37	7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	ENST00000354212.4	-	10	1946	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	565					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1693-1695)Ccg>Acg		membrane associated guanylate kinase, WW and PDZ domain containing 2							115.0	96.0	103.0					7																	77885614		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77885614G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1693C>A	7.37:g.77885614G>T	ENSP00000346151:p.Pro565Thr					MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T|MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T	p.P565T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			10	1946	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	565					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.1693C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235504	0.39498	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391;ENST00000536571;ENST00000535697	T;T;T;T;T	0.11495	2.86;2.87;2.77;3.77;3.79	5.94	5.94	0.96194	.	0.000000	0.36409	U	0.002613	T	0.18841	0.0452	L	0.55481	1.735	0.50813	D	0.999898	B;B;B;P;P;P	0.44627	0.372;0.021;0.255;0.651;0.839;0.495	B;B;B;B;P;B	0.46543	0.163;0.07;0.053;0.212;0.52;0.169	T	0.00579	-1.1661	10	0.25751	T	0.34	.	19.3473	0.94370	0.0:0.0:1.0:0.0	.	402;397;565;565;565;565	F5GWH1;F5GWK7;B7Z4H4;E7EWI0;Q86UL8-2;Q86UL8	.;.;.;.;.;MAGI2_HUMAN	T	565;565;565;565;397;402	ENSP00000405766:P565T;ENSP00000346151:P565T;ENSP00000428389:P565T;ENSP00000441584:P397T;ENSP00000441603:P402T	ENSP00000346151:P565T	P	-	1	0	MAGI2	77723550	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.571000	0.53841	2.816000	0.96949	0.561000	0.74099	CCG		0.507	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		7	98	1	0	1.06961e-07	1	1.16162e-07	7	98				
GRIN2B	2904	broad.mit.edu	37	12	13716623	13716623	+	Silent	SNP	C	C	T	rs201568782		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	ENST00000609686.1	-	13	3758	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1183					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|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)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTTGTCGCCCGTCCCGTGCT	0.617																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(3547-3549)acG>acA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	C		3,4403	6.2+/-15.9	0,3,2200	99.0	93.0	95.0		3549	-9.2	0.0	12		95	0,8600		0,0,4300	no	coding-synonymous	GRIN2B	NM_000834.3		0,3,6500	TT,TC,CC		0.0,0.0681,0.0231		1183/1485	13716623	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716623C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3549G>A	12.37:g.13716623C>T							p.T1183T	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	3758	-			1183					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3549G>A	CCDS8662.1																																																																																				0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			7	150	0	0	0	1	0	7	150				
MPDZ	8777	broad.mit.edu	37	9	13206053	13206053	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:13206053C>A	ENST00000319217.7	-	11	1583	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E446*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E446*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E446*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	446	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAATACCTCTACTGCTTGC	0.393																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1336-1338)Gag>Tag		multiple PDZ domain protein							152.0	137.0	142.0					9																	13206053		1910	4140	6050	SO:0001587	stop_gained	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13206053C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1336G>T	9.37:g.13206053C>A	ENSP00000320006:p.Glu446*					MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E446*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E446*	p.E446*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	11	1583	-			446			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Nonsense_Mutation	SNP	ENST00000319217.7	37	c.1336G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.167573	0.97343	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	6.17	6.17	0.99709	.	0.000000	0.45126	D	0.000385	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	446	.	ENSP00000320006:E446X	E	-	1	0	MPDZ	13196053	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	5.801000	0.69115	2.941000	0.99782	0.655000	0.94253	GAG		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		3	31	1	0	1	1	1	3	31				
ATP6AP1L	92270	broad.mit.edu	37	5	81613927	81613927	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:81613927G>A	ENST00000380167.4	+	10	1808	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ATP6AP1L_ENST00000439350.1_Silent_p.L161L|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	161					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCCTGCTGCTGGTGTTGGCCT	0.557																																						ENST00000380167.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						c.(481-483)ctG>ctA		ATPase, H+ transporting, lysosomal accessory protein 1-like							91.0	81.0	84.0					5																	81613927		2203	4300	6503	SO:0001819	synonymous_variant	92270				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr5:81613927G>A	AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.483G>A	5.37:g.81613927G>A						ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.L161L	p.L161L			Q52LC2	VAS1L_HUMAN			10	1808	+			161						Silent	SNP	ENST00000380167.4	37	c.483G>A	CCDS34196.1																																																																																				0.557	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971		5	70	0	0	0	1	0	5	70				
KIF13B	23303	broad.mit.edu	37	8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	ENST00000524189.1	-	27	3343	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1102					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343																																						ENST00000524189.1																			0				endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28						c.(3304-3306)cGt>cAt		kinesin family member 13B							170.0	149.0	156.0					8																	28981588		1844	4097	5941	SO:0001583	missense	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:28981588C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3305G>A	8.37:g.28981588C>T	ENSP00000427900:p.Arg1102His					CTD-2647L4.1_ENST00000523661.1_RNA	p.R1102H	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	27	3343	-		Ovarian(32;0.000536)	1102					B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	ENST00000524189.1	37	c.3305G>A	CCDS55217.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098861	0.94197	.	.	ENSG00000197892	ENST00000524189	D	0.85773	-2.03	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93650	0.6972	10	0.87932	D	0	.	19.1132	0.93326	0.0:1.0:0.0:0.0	.	1102	F8VPJ2	.	H	1102	ENSP00000427900:R1102H	ENSP00000427900:R1102H	R	-	2	0	KIF13B	29037507	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	5.325000	0.65869	2.736000	0.93811	0.655000	0.94253	CGT		0.343	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			5	39	0	0	0	1	0	5	39				
FRG1B	284802	broad.mit.edu	37	20	29625971	29625971	+	Missense_Mutation	SNP	C	C	A	rs145033899		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:29625971C>A	ENST00000278882.3	+	5	595	c.215C>A	c.(214-216)cCa>cAa	p.P72Q	FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q|FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	72										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAATGGGAACCAGTCTTTCAA	0.328																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(214-216)cCa>cAa																																						SO:0001583	missense	0							g.chr20:29625971C>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.215C>A	20.37:g.29625971C>A	ENSP00000278882:p.Pro72Gln					FRG1B_ENST00000358464.4_Missense_Mutation_p.P72Q|FRG1B_ENST00000439954.2_Missense_Mutation_p.P77Q	p.P72Q							5	595	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.215C>A		.	.	.	.	.	.	.	.	.	.	c	12.14	1.847531	0.32606	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49720	0.77	1.68	1.68	0.24146	.	0.112402	0.64402	D	0.000009	T	0.63271	0.2497	.	.	.	0.49483	D	0.999795	D	0.63046	0.992	D	0.79784	0.993	T	0.65948	-0.6044	9	0.66056	D	0.02	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	77	F5H5R5	.	Q	72;77;72	ENSP00000408863:P77Q	ENSP00000278882:P72Q	P	+	2	0	FRG1B	28239632	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CCA		0.328	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	98	1	0	0.00909568	1	0.00937412	4	98				
PTPN1	5770	broad.mit.edu	37	20	49195082	49195082	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:49195082G>A	ENST00000371621.3	+	6	792	c.618G>A	c.(616-618)ccG>ccA	p.P206P	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Silent_p.P133P	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	206	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CACTCAGCCCGGAGCACGGGC	0.557																																						ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(616-618)ccG>ccA		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						100.0	103.0	102.0					20																	49195082		2203	4300	6503	SO:0001819	synonymous_variant	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49195082G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.618G>A	20.37:g.49195082G>A						PTPN1_ENST00000541713.1_Silent_p.P133P	p.P206P	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			6	792	+		Lung NSC(126;0.163)	206			Tyrosine-protein phosphatase.		Q5TGD8|Q9BQV9|Q9NQQ4	Silent	SNP	ENST00000371621.3	37	c.618G>A	CCDS13430.1																																																																																				0.557	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			4	118	0	0	0	1	0	4	118				
RP11-24M17.5	0	broad.mit.edu	37	15	76073206	76073206	+	RNA	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:76073206G>A	ENST00000395215.3	+	0	495																											CCGACACTTCGAAGGTGGGAA	0.502																																						ENST00000395215.3																			0																																																			0							g.chr15:76073206G>A																													15.37:g.76073206G>A														0	495	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	5.502	0.277596	0.10403	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	0.756	0.18421	.	.	.	.	.	T	0.57344	0.2047	.	.	.	.	.	.	D	0.69078	0.997	D	0.64144	0.922	T	0.62455	-0.6851	6	0.87932	D	0	.	4.8311	0.13441	0.0:0.0:1.0:0.0	.	152	B4DZE6	.	K	152	.	ENSP00000378641:E152K	E	+	1	0	AC019294.2	73860261	0.999000	0.42202	0.012000	0.15200	0.091000	0.18340	0.603000	0.24149	0.706000	0.31912	0.162000	0.16502	GAA		0.502	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	101	0	0	0	1	0	5	101				
ADCY2	108	broad.mit.edu	37	5	7520913	7520913	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547																																						ENST00000338316.4																			1	Substitution - coding silent(1)	p.D157D(1)	prostate(1)	NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(469-471)gaC>gaT		adenylate cyclase 2 (brain)							202.0	134.0	157.0					5																	7520913		2203	4300	6503	SO:0001819	synonymous_variant	108				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|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7520913C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.471C>T	5.37:g.7520913C>T							p.D157D	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			3	560	+			157					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.471C>T	CCDS3872.2																																																																																				0.547	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		6	87	0	0	0	1	0	6	87				
SLCO6A1	133482	broad.mit.edu	37	5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T	rs539137924	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	ENST00000506729.1	-	13	2252	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	694						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													C|||	2	0.000399361	0.0	0.0	5008	,	,		12544	0.0		0.0	False		,,,				2504	0.002					ENST00000506729.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(2080-2082)cGt>cAt		solute carrier organic anion transporter family, member 6A1							151.0	150.0	150.0					5																	101709135		2203	4297	6500	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101709135C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.2081G>A	5.37:g.101709135C>T	ENSP00000421339:p.Arg694His					SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H	p.R694H			Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	13	2252	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	694					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.2081G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	5.282	0.237473	0.10023	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.46451	0.89;0.89;0.95;0.87;0.87	3.34	-6.67	0.01783	Major facilitator superfamily domain, general substrate transporter (1);	6.024030	0.00166	N	0.000001	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	P;B;P	0.41978	0.767;0.089;0.656	B;B;B	0.33042	0.157;0.002;0.075	T	0.25882	-1.0119	10	0.42905	T	0.14	.	1.4185	0.02306	0.1664:0.1292:0.329:0.3755	.	632;441;694	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	694;694;632;441;441	ENSP00000421339:R694H;ENSP00000369135:R694H;ENSP00000373671:R632H;ENSP00000421990:R441H;ENSP00000369138:R441H	ENSP00000369135:R694H	R	-	2	0	SLCO6A1	101737034	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.446000	0.06837	-2.052000	0.00902	-2.972000	0.00081	CGT		0.323	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		12	120	0	0	0	1	0	12	120				
SLC22A12	116085	broad.mit.edu	37	11	64367294	64367294	+	Missense_Mutation	SNP	G	G	A	rs372595086		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:64367294G>A	ENST00000377574.1	+	7	1964	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	SLC22A12_ENST00000473690.1_Missense_Mutation_p.R185H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R298H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R372H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R298H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	406					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	CTGGGCCGCCGCCCCACGCTG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		11236	0.0		0.0	False		,,,				2504	0.0					ENST00000377574.1																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1216-1218)cGc>cAc		solute carrier family 22 (organic anion/urate transporter), member 12		G	HIS/ARG,HIS/ARG	1,4395		0,1,2197	35.0	33.0	34.0		1217,554	4.7	0.2	11		34	0,8588		0,0,4294	no	missense,missense	SLC22A12	NM_144585.2,NM_153378.1	29,29	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	406/554,185/333	64367294	1,12983	2198	4294	6492	SO:0001583	missense	116085				cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	g.chr11:64367294G>A	AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1217G>A	11.37:g.64367294G>A	ENSP00000366797:p.Arg406His					SLC22A12_ENST00000473690.1_Missense_Mutation_p.R185H|SLC22A12_ENST00000377567.2_Missense_Mutation_p.R298H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R298H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R372H	p.R406H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN			7	1964	+			406					B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Missense_Mutation	SNP	ENST00000377574.1	37	c.1217G>A	CCDS8075.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.563449	0.86335	2.27E-4	0.0	ENSG00000197891	ENST00000377567;ENST00000377574;ENST00000377572;ENST00000473690;ENST00000336464	D;T;D;D;D	0.84730	-1.89;-0.0;-1.89;-1.89;-1.89	4.72	4.72	0.59763	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.139314	0.48286	D	0.000192	D	0.92351	0.7573	M	0.82823	2.61	0.45139	D	0.998152	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.991	D	0.93309	0.6683	10	0.62326	D	0.03	.	15.1645	0.72811	0.0:0.0:1.0:0.0	.	372;298;406	B5ME56;Q96S37-2;Q96S37	.;.;S22AC_HUMAN	H	298;406;298;185;372	ENSP00000366790:R298H;ENSP00000366797:R406H;ENSP00000366795:R298H;ENSP00000438437:R185H;ENSP00000336836:R372H	ENSP00000336836:R372H	R	+	2	0	SLC22A12	64123870	0.996000	0.38824	0.208000	0.23602	0.199000	0.23934	6.896000	0.75665	2.164000	0.68074	0.505000	0.49811	CGC		0.642	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2	NM_144585		4	90	0	0	0	1	0	4	90				
LTBP2	4053	broad.mit.edu	37	14	75017918	75017918	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr14:75017918G>A	ENST00000261978.4	-	7	1921	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	LTBP2_ENST00000556690.1_Missense_Mutation_p.P512L|LTBP2_ENST00000557425.1_5'UTR|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCCAGGGCGGGGGTCTGGT	0.706																																						ENST00000261978.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(1534-1536)cCg>cTg		latent transforming growth factor beta binding protein 2							22.0	25.0	24.0					14																	75017918		2202	4300	6502	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:75017918G>A		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.1535C>T	14.37:g.75017918G>A	ENSP00000261978:p.Pro512Leu					LTBP2_ENST00000556690.1_Missense_Mutation_p.P512L|LTBP2_ENST00000557425.1_5'UTR	p.P512L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	7	1921	-			512					Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.1535C>T	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	7.105	0.574805	0.13623	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77229	-1.07;-1.08	4.72	0.54	0.17163	.	1.855900	0.03154	N	0.168401	T	0.58337	0.2115	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41378	-0.9512	10	0.10902	T	0.67	.	3.7424	0.08536	0.4459:0.0:0.3849:0.1692	.	512	Q14767	LTBP2_HUMAN	L	512	ENSP00000261978:P512L;ENSP00000451477:P512L	ENSP00000261978:P512L	P	-	2	0	LTBP2	74087671	0.000000	0.05858	0.000000	0.03702	0.879000	0.50718	0.230000	0.17852	-0.078000	0.12730	0.455000	0.32223	CCG		0.706	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		5	40	0	0	0	1	0	5	40				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		5	147	0	0	0	1	0	5	147				
EPHX2	2053	broad.mit.edu	37	8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	ENST00000521400.1	+	12	1491	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V|EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V|EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	354	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.A354V(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TTCTGTAGGGCGGTGGCCAGT	0.463																																						ENST00000521400.1																			1	Substitution - Missense(1)	p.A354V(1)	lung(1)	cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27						c.(1060-1062)gCg>gTg		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						114.0	106.0	109.0					8																	27382881		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27382881C>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1061C>T	8.37:g.27382881C>T	ENSP00000430269:p.Ala354Val					EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V|EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V|EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V	p.A354V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	12	1491	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	354			Epoxide hydrolase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.1061C>T	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641729	0.67244	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000518379	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	4.84	4.84	0.62591	Alpha/beta hydrolase fold-1 (2);	0.100008	0.64402	D	0.000002	D	0.86443	0.5934	H	0.96111	3.77	0.80722	D	1	D;D;D	0.89917	0.997;0.999;1.0	D;P;D	0.64776	0.929;0.791;0.915	D	0.90959	0.4811	10	0.87932	D	0	-4.6784	15.7868	0.78310	0.0:1.0:0.0:0.0	.	322;354;354	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	V	354;171;288;301;322	ENSP00000430269:A354V;ENSP00000428875:A171V;ENSP00000430302:A288V;ENSP00000369843:A301V;ENSP00000427956:A322V	ENSP00000369843:A301V	A	+	2	0	EPHX2	27438798	0.999000	0.42202	1.000000	0.80357	0.481000	0.33189	5.321000	0.65846	2.373000	0.80994	0.563000	0.77884	GCG		0.463	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			9	128	0	0	0	1	0	9	128				
EGR1	1958	broad.mit.edu	37	5	137803725	137803725	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	ENST00000239938.4	+	2	1859	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	529					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512																																						ENST00000239938.4																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6						c.(1585-1587)tcG>tcA		early growth response 1							80.0	82.0	82.0					5																	137803725		2203	4300	6503	SO:0001819	synonymous_variant	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803725G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1587G>A	5.37:g.137803725G>A							p.S529S	NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1859	+			529						Silent	SNP	ENST00000239938.4	37	c.1587G>A	CCDS4206.1																																																																																				0.512	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		17	128	0	0	0	1	0	17	128				
MAP3K3	4215	broad.mit.edu	37	17	61765935	61765935	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	ENST00000361733.3	+	9	1079	c.759C>T	c.(757-759)gaC>gaT	p.D253D	MAP3K3_ENST00000361357.3_Silent_p.D284D|MAP3K3_ENST00000584573.1_Silent_p.D280D|MAP3K3_ENST00000579585.1_Silent_p.D284D|MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000577395.1_Silent_p.D249D	NM_002401.3	NP_002392.2	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	253					activation of MAPKK activity (GO:0000186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537																																						ENST00000361357.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(850-852)gaC>gaT		mitogen-activated protein kinase kinase kinase 3							62.0	65.0	64.0					17																	61765935		2203	4300	6503	SO:0001819	synonymous_variant	4215				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr17:61765935C>T	U78876	CCDS32701.1, CCDS32702.1	17q	2011-06-09				ENSG00000198909		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6855	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 3"", ""MAPK/ERK kinase kinase 3"""	602539		MEKK3		9006902	Standard	NM_002401		Approved	MAPKKK3	uc002jbf.3	Q99759		ENST00000361733.3:c.759C>T	17.37:g.61765935C>T						MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000579585.1_Silent_p.D284D|MAP3K3_ENST00000361733.3_Silent_p.D253D|MAP3K3_ENST00000584573.1_Silent_p.D280D|MAP3K3_ENST00000577395.1_Silent_p.D249D	p.D284D	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN			10	1170	+			253					B2RCW2|D3DU15|Q5BKZ6|Q8N3I9	Silent	SNP	ENST00000361733.3	37	c.852C>T	CCDS32702.1																																																																																				0.537	MAP3K3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000443867.1	NM_002401		10	70	0	0	0	1	0	10	70				
RTKN2	219790	broad.mit.edu	37	10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	ENST00000373789.3	-	12	1762	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	556					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428																																						ENST00000373789.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1666-1668)Atg>Gtg		rhotekin 2							194.0	174.0	180.0					10																	63957831		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63957831T>C	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1666A>G	10.37:g.63957831T>C	ENSP00000362894:p.Met556Val					RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	p.M556V	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN			12	1762	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		556					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.1666A>G	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	T	0.052	-1.247938	0.01469	.	.	ENSG00000182010	ENST00000373789	T	0.27104	1.69	5.61	-2.14	0.07123	.	0.560778	0.21114	N	0.079935	T	0.08492	0.0211	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34229	-0.9837	10	0.10111	T	0.7	0.0585	5.6543	0.17635	0.1177:0.3163:0.0:0.566	.	556	Q8IZC4	RTKN2_HUMAN	V	556	ENSP00000362894:M556V	ENSP00000362894:M556V	M	-	1	0	RTKN2	63627837	0.000000	0.05858	0.279000	0.24732	0.986000	0.74619	-0.601000	0.05687	-0.461000	0.06993	0.533000	0.62120	ATG		0.428	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1	NM_145307		15	75	0	0	0	1	0	15	75				
C15orf54	400360	broad.mit.edu	37	15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	ENST00000318578.3	+	2	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T|RP11-624L4.1_ENST00000561058.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468																																						ENST00000318578.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(52-54)Gct>Act		chromosome 15 open reading frame 54							177.0	179.0	178.0					15																	39544388		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544388G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.52G>A	15.37:g.39544388G>A	ENSP00000323686:p.Ala18Thr					C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA	p.A18T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	420	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	18					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.52G>A	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868787	0.51588	.	.	ENSG00000175746	ENST00000318578	T	0.38560	1.13	5.07	0.0455	0.14230	.	.	.	.	.	T	0.20007	0.0481	N	0.08118	0	0.19575	N	0.999964	B	0.06786	0.001	B	0.04013	0.001	T	0.18808	-1.0325	9	0.87932	D	0	.	4.0047	0.09595	0.4159:0.3673:0.2168:0.0	.	18	Q8N8G6	CO054_HUMAN	T	18	ENSP00000323686:A18T	ENSP00000323686:A18T	A	+	1	0	C15orf54	37331680	0.050000	0.20438	0.695000	0.30226	0.992000	0.81027	-0.108000	0.10857	-0.147000	0.11254	0.655000	0.94253	GCT		0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		18	306	0	0	0	1	0	18	306				
LAMB4	22798	broad.mit.edu	37	7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	ENST00000388781.3	-	14	1641	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_ENST00000418464.1_Missense_Mutation_p.P520S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	520	Laminin EGF-like 5; truncated. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1558-1560)Ccc>Tcc		laminin, beta 4		G	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	74.0	72.0	72.0		1558	3.8	0.4	7	dbSNP_134	72	0,8600		0,0,4300	no	missense	LAMB4	NM_007356.2	74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	520/1762	107732214	1,13005	2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107732214G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1558C>T	7.37:g.107732214G>A	ENSP00000373433:p.Pro520Ser					LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S	p.P520S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			14	1641	-			520			Laminin EGF-like 5; truncated.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1558C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	0.043	-1.278345	0.01410	2.27E-4	0.0	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	4.69	3.8	0.43715	EGF-like, laminin (3);	0.142736	0.32161	N	0.006494	T	0.37348	0.1000	L	0.28400	0.85	0.09310	N	1	B	0.25521	0.128	B	0.26693	0.072	T	0.18053	-1.0349	10	0.10111	T	0.7	.	5.4157	0.16372	0.1628:0.0:0.6687:0.1685	.	520	A4D0S4	LAMB4_HUMAN	S	520	ENSP00000205386:P520S;ENSP00000373433:P520S;ENSP00000373432:P520S;ENSP00000402353:P520S;ENSP00000402265:P520S	ENSP00000205386:P520S	P	-	1	0	LAMB4	107519450	0.000000	0.05858	0.353000	0.25747	0.336000	0.28762	0.367000	0.20382	1.159000	0.42565	0.655000	0.94253	CCC		0.493	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		8	110	0	0	0	1	0	8	110				
FAM169B	283777	broad.mit.edu	37	15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	rs141122936		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	ENST00000558256.1	-	4	394	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473																																						ENST00000558256.1																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(145-147)Cgt>Tgt		family with sequence similarity 169, member B		G	CYS/ARG	0,3842		0,0,1921	108.0	107.0	107.0		145	0.3	0.0	15	dbSNP_134	107	1,8295		0,1,4147	no	missense	FAM169B	NM_182562.2	180	0,1,6068	AA,AG,GG		0.0121,0.0,0.0082	possibly-damaging	49/193	99023868	1,12137	1921	4148	6069	SO:0001583	missense	283777							g.chr15:99023868G>A		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.145C>T	15.37:g.99023868G>A	ENSP00000453554:p.Arg49Cys					FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C	p.R49C	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN			4	394	-			49					B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	37	c.145C>T	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267010	0.40095	0.0	1.21E-4	ENSG00000185087	ENST00000332908	T	0.43294	0.95	5.06	0.29	0.15728	.	0.481170	0.22378	N	0.060857	T	0.18467	0.0443	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.40782	0.34	T	0.20806	-1.0264	10	0.66056	D	0.02	-0.4158	5.4331	0.16464	0.0:0.3469:0.3559:0.2971	.	49	Q8N8A8	F169B_HUMAN	C	49	ENSP00000332615:R49C	ENSP00000332615:R49C	R	-	1	0	FAM169B	96841391	0.003000	0.15002	0.003000	0.11579	0.971000	0.66376	0.658000	0.24979	-0.182000	0.10602	0.655000	0.94253	CGT		0.473	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562		9	131	0	0	0	1	0	9	131				
TAS2R8	50836	broad.mit.edu	37	12	10959421	10959421	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	ENST00000240615.2	-	1	471	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	53					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328																																						ENST00000240615.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(157-159)atC>atT		taste receptor, type 2, member 8							127.0	122.0	124.0					12																	10959421		2203	4300	6503	SO:0001819	synonymous_variant	50836				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10959421G>A	AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.159C>T	12.37:g.10959421G>A							p.I53I	NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN			1	471	-			53					Q4KN29|Q645Y2	Silent	SNP	ENST00000240615.2	37	c.159C>T	CCDS8632.1																																																																																				0.328	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399932.1			19	137	0	0	0	1	0	19	137				
CDC20	991	broad.mit.edu	37	1	43826262	43826262	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	ENST00000372462.1	+	6	1049	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_ENST00000478882.1_3'UTR|RP1-92O14.3_ENST00000424948.1_RNA|CDC20_ENST00000310955.6_Silent_p.S282S			Q12834	CDC20_HUMAN	cell division cycle 20	282					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle (GO:0007049)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein ubiquitination (GO:0016567)|regulation of dendrite development (GO:0050773)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|spindle (GO:0005819)	enzyme binding (GO:0019899)|protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512																																					Esophageal Squamous(137;1154 1759 10362 10401 46925)	ENST00000372462.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(844-846)tcC>tcA		cell division cycle 20							157.0	142.0	147.0					1																	43826262		2203	4300	6503	SO:0001819	synonymous_variant	991				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding	g.chr1:43826262C>A	U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399		"""WD repeat domain containing"""	1723	protein-coding gene	gene with protein product		603618	"""CDC20 (cell division cycle 20, S. cerevisiae, homolog)"", ""CDC20 cell division cycle 20 homolog (S. cerevisiae)"", ""cell division cycle 20 homolog (S. cerevisiae)"""			7513050, 9353311	Standard	NM_001255		Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.846C>A	1.37:g.43826262C>A						CDC20_ENST00000310955.6_Silent_p.S282S|CDC20_ENST00000478882.1_3'UTR	p.S282S			Q12834	CDC20_HUMAN			6	1049	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	282					B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	Silent	SNP	ENST00000372462.1	37	c.846C>A	CCDS484.1																																																																																				0.512	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019488.1	NM_001255		6	108	1	0	2.7689e-08	1	3.03977e-08	6	108				
IL16	3603	broad.mit.edu	37	15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	ENST00000302987.4	+	13	2773	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_ENST00000394652.2_Missense_Mutation_p.P224A|IL16_ENST00000394660.2_Missense_Mutation_p.P925A			Q14005	IL16_HUMAN	interleukin 16	925					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2773-2775)Cca>Gca		interleukin 16							37.0	44.0	42.0					15																	81592440		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592440C>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2773C>G	15.37:g.81592440C>G	ENSP00000302935:p.Pro925Ala					IL16_ENST00000394652.2_Missense_Mutation_p.P224A|IL16_ENST00000302987.4_Missense_Mutation_p.P925A	p.P925A	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3133	+			925					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2773C>G	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	C	9.814	1.183942	0.21870	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.10288	2.89;2.89;3.48	4.85	0.585	0.17428	.	1.058890	0.07434	N	0.896252	T	0.07773	0.0195	L	0.34521	1.04	0.09310	N	1	B;B;B;B;B;B	0.30406	0.141;0.179;0.005;0.278;0.07;0.264	B;B;B;B;B;B	0.27887	0.072;0.077;0.002;0.084;0.016;0.075	T	0.39143	-0.9628	10	0.41790	T	0.15	.	3.373	0.07228	0.1278:0.4803:0.2483:0.1435	.	757;418;462;315;925;925	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	A	925;757;925;462;315;224;224	ENSP00000378155:P925A;ENSP00000302935:P925A;ENSP00000378147:P224A	ENSP00000302935:P925A	P	+	1	0	IL16	79379495	0.000000	0.05858	0.002000	0.10522	0.036000	0.12997	0.327000	0.19663	-0.149000	0.11215	-0.140000	0.14226	CCA		0.642	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		11	70	0	0	0	1	0	11	70				
GARS	2617	broad.mit.edu	37	7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	ENST00000389266.3	+	8	1219	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	326					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|glycyl-tRNA aminoacylation (GO:0006426)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|glycine-tRNA ligase activity (GO:0004820)|protein dimerization activity (GO:0046983)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423																																						ENST00000389266.3																			0				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24						c.(976-978)atT>atG		glycyl-tRNA synthetase	Glycine(DB00145)						93.0	91.0	91.0					7																	30651808		1827	4085	5912	SO:0001583	missense	2617				cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	g.chr7:30651808T>G	AK074524	CCDS43564.1	7p15	2014-09-17	2004-02-13		ENSG00000106105	ENSG00000106105	6.1.1.14	"""Aminoacyl tRNA synthetases / Class II"""	4162	protein-coding gene	gene with protein product	"""glycine tRNA ligase"""	600287	"""Charcot-Marie-Tooth neuropathy 2D"""	CMT2D		8595897, 8872480	Standard	NM_002047		Approved	GlyRS, DSMAV, SMAD1	uc003tbm.3	P41250	OTTHUMG00000152769	ENST00000389266.3:c.978T>G	7.37:g.30651808T>G	ENSP00000373918:p.Ile326Met						p.I326M	NM_002047.2	NP_002038.2	P41250	SYG_HUMAN			8	1219	+			326					B3KQA2|B4DIA0|Q969Y1	Missense_Mutation	SNP	ENST00000389266.3	37	c.978T>G	CCDS43564.1	.	.	.	.	.	.	.	.	.	.	T	19.13	3.767129	0.69878	.	.	ENSG00000106105	ENST00000389266	D	0.82803	-1.65	5.58	4.43	0.53597	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.90487	0.7020	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90691	0.4613	10	0.87932	D	0	-17.5282	6.4511	0.21903	0.0:0.1709:0.0:0.8291	.	326	P41250	SYG_HUMAN	M	326	ENSP00000373918:I326M	ENSP00000373918:I326M	I	+	3	3	GARS	30618333	0.983000	0.35010	1.000000	0.80357	0.998000	0.95712	0.134000	0.15932	2.261000	0.74972	0.533000	0.62120	ATT		0.423	GARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327735.1	NM_002047		9	84	0	0	0	1	0	9	84				
GABRG1	2565	broad.mit.edu	37	4	46060562	46060562	+	Silent	SNP	A	A	G			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	ENST00000295452.4	-	6	870	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	235					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AACTGATATAATCTCCAGTAT	0.348																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(703-705)Tta>Cta		gamma-aminobutyric acid (GABA) A receptor, gamma 1							87.0	84.0	85.0					4																	46060562		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060562A>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.703T>C	4.37:g.46060562A>G							p.L235L	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	870	-			235					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.703T>C	CCDS3470.1																																																																																				0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		10	69	0	0	0	1	0	10	69				
RTEL1	51750	broad.mit.edu	37	20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	rs143317975		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:62324212G>A	ENST00000360203.5	+	29	3032	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000318100.4_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2707-2709)Gtg>Atg		regulator of telomere elongation helicase 1		G	MET/VAL,MET/VAL	0,4392		0,0,2196	86.0	78.0	80.0		2707,2779	4.6	0.9	20	dbSNP_134	80	1,8581	1.2+/-3.3	0,1,4290	no	missense,missense	RTEL1	NM_016434.3,NM_032957.4	21,21	0,1,6486	AA,AG,GG		0.0117,0.0,0.0077	possibly-damaging,possibly-damaging	903/1220,927/1244	62324212	1,12973	2196	4291	6487	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62324212G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2707G>A	20.37:g.62324212G>A	ENSP00000353332:p.Val903Met					RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M	p.V903M			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		29	3534	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		903						Missense_Mutation	SNP	ENST00000360203.5	37	c.2707G>A		.	.	.	.	.	.	.	.	.	.	G	14.86	2.660166	0.47572	0.0	1.17E-4	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000370003	T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84	4.59	4.59	0.56863	.	0.111999	0.64402	D	0.000010	T	0.31009	0.0783	L	0.61387	1.9	0.39435	D	0.967157	D;D;D;D	0.89917	0.968;1.0;0.991;0.975	P;D;P;P	0.91635	0.714;0.999;0.791;0.742	T	0.05835	-1.0861	10	0.56958	D	0.05	-27.1972	16.5163	0.84301	0.0:0.0:1.0:0.0	.	927;148;903;903	Q9NZ71-7;Q9NZ71-5;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	M	903;903;927;903;148	ENSP00000359035:V903M;ENSP00000322287:V903M;ENSP00000424307:V927M;ENSP00000353332:V903M;ENSP00000359020:V148M	ENSP00000353332:V903M	V	+	1	0	AL353715.1	61794656	1.000000	0.71417	0.939000	0.37840	0.343000	0.28985	3.355000	0.52262	2.271000	0.75665	0.442000	0.29010	GTG		0.642	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		4	131	0	0	0	1	0	4	131				
EBF3	253738	broad.mit.edu	37	10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	ENST00000355311.5	-	2	266	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	EBF3_ENST00000368648.3_Missense_Mutation_p.S65Y			Q9H4W6	COE3_HUMAN	early B-cell factor 3	65	Interaction with DNA. {ECO:0000250}.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612																																						ENST00000368648.3																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44						c.(193-195)tCc>tAc		early B-cell factor 3							54.0	59.0	57.0					10																	131761728		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131761728G>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.194C>A	10.37:g.131761728G>T	ENSP00000347463:p.Ser65Tyr					EBF3_ENST00000355311.5_Missense_Mutation_p.S65Y	p.S65Y	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	2	266	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	65			Interaction with DNA (By similarity).		A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.194C>A		.	.	.	.	.	.	.	.	.	.	G	19.81	3.896857	0.72639	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.64618	-0.11;-0.06	3.27	3.27	0.37495	.	0.000000	0.85682	U	0.000000	T	0.80465	0.4628	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.84821	0.0796	10	0.87932	D	0	-8.5638	14.1154	0.65149	0.0:0.0:1.0:0.0	.	65;65	Q9H4W6;Q9H4W6-2	COE3_HUMAN;.	Y	65	ENSP00000347463:S65Y;ENSP00000357637:S65Y	ENSP00000347463:S65Y	S	-	2	0	EBF3	131651718	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.034000	0.76511	1.343000	0.45638	0.205000	0.17691	TCC		0.612	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		8	59	1	0	0.000673444	1	0.000708519	8	59				
DNM1P47	100216544	broad.mit.edu	37	15	102300094	102300094	+	RNA	SNP	G	G	T	rs28459357	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:102300094G>T	ENST00000561463.1	+	0	8140									DNM1 pseudogene 47																		GACACTCATGGAGGAGTCGGC	0.582																																						ENST00000561463.1																			0																																																			0							g.chr15:102300094G>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102300094G>T														0	8140	+									RNA	SNP	ENST00000561463.1	37			.	.	.	.	.	.	.	.	.	.	.	1.174	-0.640206	0.03557	.	.	ENSG00000225587	ENST00000448059	.	.	.	1.52	1.52	0.23074	.	.	.	.	.	T	0.56396	0.1982	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68123	-0.5492	4	0.87932	D	0	.	9.1506	0.36959	0.0:0.0:1.0:0.0	rs28459357	.	.	.	V	24	.	ENSP00000413267:G24V	G	+	2	0	AC107977.3	100117617	1.000000	0.71417	0.965000	0.40720	0.087000	0.18053	8.159000	0.89651	1.191000	0.43056	0.372000	0.22366	GGA		0.582	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	13	1	0	0.00024832	1	0.000266812	3	13				
KLHL8	57563	broad.mit.edu	37	4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T	rs532263956		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	ENST00000273963.5	-	7	1629	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	430					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		18037	0.0		0.0	False		,,,				2504	0.001					ENST00000273963.5																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1288-1290)Gtg>Atg		kelch-like family member 8							118.0	104.0	109.0					4																	88091688		2203	4300	6503	SO:0001583	missense	57563							g.chr4:88091688C>T	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1288G>A	4.37:g.88091688C>T	ENSP00000273963:p.Val430Met					KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M|KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M	p.V430M	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	7	1629	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	430					Q53XA3|Q6N018	Missense_Mutation	SNP	ENST00000273963.5	37	c.1288G>A	CCDS3617.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021948	0.93462	.	.	ENSG00000145332	ENST00000273963;ENST00000498875;ENST00000425278;ENST00000545252;ENST00000512111	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.54	5.54	0.83059	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92572	0.6067	10	0.44086	T	0.13	.	19.4987	0.95085	0.0:1.0:0.0:0.0	.	247;354;430	Q68DU9;Q6N018;Q9P2G9	.;.;KLHL8_HUMAN	M	430;354;247;79;430	ENSP00000273963:V430M;ENSP00000426451:V354M;ENSP00000408854:V247M;ENSP00000439514:V79M;ENSP00000424131:V430M	ENSP00000273963:V430M	V	-	1	0	KLHL8	88310712	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	7.437000	0.80417	2.609000	0.88269	0.460000	0.39030	GTG		0.428	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1			10	128	0	0	0	1	0	10	128				
CYP7A1	1581	broad.mit.edu	37	8	59409693	59409693	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	ENST00000301645.3	-	3	515	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	126					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443									Neonatal Giant Cell Hepatitis																													ENST00000301645.3																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(376-378)aaC>aaT		cytochrome P450, family 7, subfamily A, polypeptide 1							121.0	120.0	120.0					8																	59409693		2203	4300	6503	SO:0001819	synonymous_variant	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59409693G>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.378C>T	8.37:g.59409693G>A							p.N126N	NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN			3	515	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	126					P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	c.378C>T	CCDS6171.1																																																																																				0.443	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		6	87	0	0	0	1	0	6	87				
WDR1	9948	broad.mit.edu	37	4	10077032	10077032	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	ENST00000499869.2	-	15	1984	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_ENST00000502702.1_Silent_p.A457A|WDR1_ENST00000382451.2_Silent_p.A457A|WDR1_ENST00000382452.2_Silent_p.A597A|RP11-448G15.3_ENST00000561486.1_RNA|WDR1_ENST00000515743.1_5'UTR			O75083	WDR1_HUMAN	WD repeat domain 1	597					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567																																						ENST00000382452.2																			0				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12						c.(1789-1791)gcC>gcT		WD repeat domain 1							56.0	62.0	60.0					4																	10077032		2112	4214	6326	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10077032G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1791C>T	4.37:g.10077032G>A						WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Silent_p.A457A|WDR1_ENST00000499869.2_Silent_p.A597A|WDR1_ENST00000382451.2_Silent_p.A457A	p.A597A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	15	2073	-			597					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1791C>T	CCDS54740.1																																																																																				0.567	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			7	53	0	0	0	1	0	7	53				
CACNA1S	779	broad.mit.edu	37	1	201020210	201020210	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:201020210C>T	ENST00000362061.3	-	33	4241	c.4015G>A	c.(4015-4017)Gac>Aac	p.D1339N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1320N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1339	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACTCTGGGTCACACAGCTTC	0.547																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(4015-4017)Gac>Aac		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						162.0	133.0	143.0					1																	201020210		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201020210C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.4015G>A	1.37:g.201020210C>T	ENSP00000355192:p.Asp1339Asn					CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1320N	p.D1339N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			33	4241	-			1339			Dihydropyridine binding (By similarity).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.4015G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	21.0	4.078072	0.76528	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96685	-4.09;-4.03	4.43	4.43	0.53597	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96959	0.9007	M	0.76727	2.345	0.58432	D	0.999998	B	0.28350	0.208	B	0.42851	0.4	D	0.97535	1.0082	10	0.87932	D	0	.	17.4679	0.87638	0.0:1.0:0.0:0.0	.	1339	Q13698	CAC1S_HUMAN	N	1339;1320	ENSP00000355192:D1339N;ENSP00000356307:D1320N	ENSP00000355192:D1339N	D	-	1	0	CACNA1S	199286833	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.793000	0.85851	2.186000	0.69663	0.456000	0.33151	GAC		0.547	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		6	118	0	0	0	1	0	6	118				
DIAPH1	1729	broad.mit.edu	37	5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	ENST00000398557.4	-	21	2913	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000253811.6_Missense_Mutation_p.V926M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M|DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	925	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2776-2778)Gtg>Atg		diaphanous-related formin 1							114.0	117.0	116.0					5																	140908744		2156	4263	6419	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908744C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2773G>A	5.37:g.140908744C>T	ENSP00000381565:p.Val925Met					DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M|DIAPH1_ENST00000398557.4_Missense_Mutation_p.V925M|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M	p.V926M			O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		21	2916	-			925			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2776G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133817	0.77662	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.37	5.37	0.77165	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000002	T	0.42765	0.1217	M	0.65677	2.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.30592	-0.9973	10	0.87932	D	0	.	17.9034	0.88911	0.0:1.0:0.0:0.0	.	868;916;925	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	M	922;868;901;916;917;925;926;913	ENSP00000373706:V922M;ENSP00000429282:V868M;ENSP00000381570:V901M;ENSP00000373709:V916M;ENSP00000381572:V917M;ENSP00000381565:V925M;ENSP00000253811:V926M;ENSP00000428268:V913M	ENSP00000253811:V926M	V	-	1	0	DIAPH1	140888928	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	6.049000	0.71053	2.510000	0.84645	0.650000	0.86243	GTG		0.512	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		16	135	0	0	0	1	0	16	135				
ATP4A	495	broad.mit.edu	37	19	36045932	36045932	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	TGTTCTTGGTCAATGTGTAGG	0.572																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2371-2373)ttG>ttA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						317.0	241.0	267.0					19																	36045932		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36045932C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2373G>A	19.37:g.36045932C>T							p.L791L	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		16	2401	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		791					O00738	Silent	SNP	ENST00000262623.3	37	c.2373G>A	CCDS12467.1																																																																																				0.572	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		6	104	0	0	0	1	0	6	104				
OR52M1	119772	broad.mit.edu	37	11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	ENST00000360213.1	+	1	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512																																						ENST00000360213.1																			0				endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(580-582)Gac>Aac		olfactory receptor, family 52, subfamily M, member 1							210.0	197.0	201.0					11																	4567000		2201	4298	6499	SO:0001583	missense	119772				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4567000G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.580G>A	11.37:g.4567000G>A	ENSP00000353343:p.Asp194Asn						p.D194N	NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	580	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)	194						Missense_Mutation	SNP	ENST00000360213.1	37	c.580G>A	CCDS31353.1	.	.	.	.	.	.	.	.	.	.	G	12.63	1.994625	0.35226	.	.	ENSG00000197790	ENST00000360213	T	0.00231	8.49	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000125	T	0.00384	0.0012	L	0.43757	1.38	0.35927	D	0.832206	D	0.89917	1.0	D	0.97110	1.0	D	0.92258	0.5814	10	0.12766	T	0.61	.	17.4094	0.87481	0.0:0.0:1.0:0.0	.	194	Q8NGK5	O52M1_HUMAN	N	194	ENSP00000353343:D194N	ENSP00000353343:D194N	D	+	1	0	OR52M1	4523576	0.841000	0.29509	0.987000	0.45799	0.018000	0.09664	1.525000	0.35953	2.768000	0.95171	0.650000	0.86243	GAC		0.512	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	NM_001004137		31	181	0	0	0	1	0	31	181				
OR5D18	219438	broad.mit.edu	37	11	55587486	55587486	+	Silent	SNP	T	T	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	ENST00000333976.4	+	1	401	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(379-381)atT>atA		olfactory receptor, family 5, subfamily D, member 18							180.0	168.0	172.0					11																	55587486		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587486T>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.381T>A	11.37:g.55587486T>A							p.I127I	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	401	+		all_epithelial(135;0.208)	127					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.381T>A	CCDS31510.1																																																																																				0.463	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		23	160	0	0	0	1	0	23	160				
POLR2B	5431	broad.mit.edu	37	4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	ENST00000381227.1	+	11	1798	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V|POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	462					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378																																						ENST00000381227.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.(1384-1386)gCc>gTc		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa							70.0	75.0	73.0					4																	57873149		2203	4300	6503	SO:0001583	missense	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57873149C>T		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1385C>T	4.37:g.57873149C>T	ENSP00000370625:p.Ala462Val					POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V|POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V	p.A462V			P30876	RPB2_HUMAN			11	1798	+	Glioma(25;0.08)|all_neural(26;0.181)		462					A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	c.1385C>T	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983822	0.74474	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.82678	0.5089	M	0.86420	2.815	0.80722	D	1	P;P	0.35226	0.491;0.491	B;B	0.38327	0.271;0.271	T	0.82149	-0.0600	10	0.30854	T	0.27	.	19.098	0.93260	0.0:1.0:0.0:0.0	.	387;462	C9J4M6;P30876	.;RPB2_HUMAN	V	462;387;455;462	ENSP00000370625:A462V;ENSP00000391096:A387V;ENSP00000391452:A455V;ENSP00000312735:A462V	ENSP00000312735:A462V	A	+	2	0	POLR2B	57567906	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.658000	0.83755	2.600000	0.87896	0.655000	0.94253	GCC		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		10	58	0	0	0	1	0	10	58				
GPR98	84059	broad.mit.edu	37	5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	ENST00000405460.2	+	74	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_ENST00000425867.2_Missense_Mutation_p.R761M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5100					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(15298-15300)aGg>aTg		G protein-coupled receptor 98							99.0	100.0	100.0					5																	90106376		1822	4078	5900	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90106376G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.15299G>T	5.37:g.90106376G>T	ENSP00000384582:p.Arg5100Met					GPR98_ENST00000425867.2_Missense_Mutation_p.R761M	p.R5100M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	74	15395	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5100					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.15299G>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061136	0.19987	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35236	1.32;1.32	5.37	-10.7	0.00240	.	1.037740	0.07528	N	0.911659	T	0.15349	0.0370	N	0.22421	0.69	0.09310	N	1	P;B;P	0.39964	0.571;0.122;0.697	B;B;B	0.40534	0.178;0.029;0.332	T	0.12656	-1.0539	9	.	.	.	.	0.3201	0.00302	0.3257:0.2487:0.1992:0.2264	.	761;5100;761	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	5100;5100;761	ENSP00000384582:R5100M;ENSP00000392618:R761M	.	R	+	2	0	GPR98	90142132	0.000000	0.05858	0.000000	0.03702	0.619000	0.37552	0.079000	0.14782	-1.543000	0.01723	0.563000	0.77884	AGG		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		10	122	1	0	0.000978159	1	0.0010185	10	122				
TMEM151A	256472	broad.mit.edu	37	11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	ENST00000327259.4	+	2	1529	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	462						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657																																						ENST00000327259.4																			0				central_nervous_system(1)|kidney(4)|lung(6)	11						c.(1384-1386)gGg>gAg		transmembrane protein 151A							8.0	9.0	9.0					11																	66063102		1679	3297	4976	SO:0001583	missense	256472					integral to membrane		g.chr11:66063102G>A	BC033898	CCDS8133.1	11q13.2	2007-10-25	2007-10-25	2007-10-25	ENSG00000179292	ENSG00000179292			28497	protein-coding gene	gene with protein product			"""transmembrane protein 151"""	TMEM151		12477932	Standard	NM_153266		Approved	MGC33486	uc001ohl.3	Q8N4L1	OTTHUMG00000166920	ENST00000327259.4:c.1385G>A	11.37:g.66063102G>A	ENSP00000326244:p.Gly462Glu						p.G462E	NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN			2	1529	+			462					Q8ND14	Missense_Mutation	SNP	ENST00000327259.4	37	c.1385G>A	CCDS8133.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110695	0.37242	.	.	ENSG00000179292	ENST00000327259	.	.	.	4.14	3.23	0.37069	.	0.361751	0.23345	N	0.049195	T	0.26774	0.0655	N	0.22421	0.69	0.28768	N	0.900546	B	0.06786	0.001	B	0.01281	0.0	T	0.16748	-1.0392	9	0.56958	D	0.05	-1.7322	7.648	0.28331	0.2002:0.0:0.7998:0.0	.	462	Q8N4L1	T151A_HUMAN	E	462	.	ENSP00000326244:G462E	G	+	2	0	TMEM151A	65819678	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.422000	0.52749	0.966000	0.38159	0.462000	0.41574	GGG		0.657	TMEM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391897.1	NM_153266		4	27	0	0	0	1	0	4	27				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		8	636	0	0	0	1	0	8	636				
NOTCH3	4854	broad.mit.edu	37	19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	ENST00000263388.2	-	33	6884	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2270					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(6808-6810)aCg>aTg		notch 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	39.0	43.0	41.0		6809	3.4	0.8	19	dbSNP_134	41	0,8600		0,0,4300	yes	missense	NOTCH3	NM_000435.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2270/2322	15271630	1,13005	2203	4300	6503	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15271630G>A	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.6809C>T	19.37:g.15271630G>A	ENSP00000263388:p.Thr2270Met						p.T2270M	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		33	6884	-			2270					Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.6809C>T	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630997	0.67015	2.27E-4	0.0	ENSG00000074181	ENST00000263388	T	0.77620	-1.11	3.44	3.44	0.39384	Domain of unknown function DUF3454, notch (1);	.	.	.	.	T	0.80586	0.4651	L	0.39147	1.195	0.45025	D	0.998042	D	0.89917	1.0	P	0.61874	0.895	T	0.79904	-0.1606	9	0.38643	T	0.18	.	14.1924	0.65646	0.0:0.0:1.0:0.0	.	2270	Q9UM47	NOTC3_HUMAN	M	2270	ENSP00000263388:T2270M	ENSP00000263388:T2270M	T	-	2	0	NOTCH3	15132630	0.999000	0.42202	0.758000	0.31321	0.964000	0.63967	2.932000	0.48940	1.941000	0.56285	0.591000	0.81541	ACG		0.667	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		6	109	0	0	0	1	0	6	109				
RYR2	6262	broad.mit.edu	37	1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R|RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3295-3297)Gga>Aga		ryanodine receptor 2 (cardiac)							133.0	134.0	134.0					1																	237729947		1973	4146	6119	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237729947G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3295G>A	1.37:g.237729947G>A	ENSP00000355533:p.Gly1099Arg					RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R	p.G1099R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		28	3612	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1099			4 X approximate repeats.|B30.2/SPRY 2.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3295G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569236	0.86439	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92348	-3.02;-3.02;-3.02	5.29	5.29	0.74685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000010	D	0.96645	0.8905	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97217	0.9875	10	0.87932	D	0	.	18.9442	0.92615	0.0:0.0:1.0:0.0	.	1099	Q92736	RYR2_HUMAN	R	1099;1097;1083	ENSP00000355533:G1099R;ENSP00000353174:G1097R;ENSP00000443798:G1083R	ENSP00000353174:G1097R	G	+	1	0	RYR2	235796570	1.000000	0.71417	0.874000	0.34290	0.873000	0.50193	7.924000	0.87555	2.465000	0.83290	0.655000	0.94253	GGA		0.552	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	154	0	0	0	1	0	5	154				
EPHA6	285220	broad.mit.edu	37	3	97329663	97329663	+	Missense_Mutation	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:97329663T>C	ENST00000514100.1	+	10	957	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	EPHA6_ENST00000442602.2_Missense_Mutation_p.Y213H|EPHA6_ENST00000502694.1_Missense_Mutation_p.Y239H|EPHA6_ENST00000389672.5_Missense_Mutation_p.Y847H	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	753						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTGGTGGAATATATGGAGAA	0.373																																						ENST00000389672.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.(2539-2541)Tat>Cat		EPH receptor A6							194.0	183.0	186.0					3																	97329663		1868	4114	5982	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97329663T>C	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.715T>C	3.37:g.97329663T>C	ENSP00000421711:p.Tyr239His					EPHA6_ENST00000502694.1_Missense_Mutation_p.Y239H|EPHA6_ENST00000442602.2_Missense_Mutation_p.Y213H|EPHA6_ENST00000514100.1_Missense_Mutation_p.Y239H	p.Y847H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN			13	2577	+			752			Protein kinase.		D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	37	c.2539T>C		.	.	.	.	.	.	.	.	.	.	T	21.0	4.079894	0.76528	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	T;D;D;D	0.91686	-0.36;-1.97;-1.97;-2.89	5.89	5.89	0.94794	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.95623	0.8577	M	0.70787	2.145	0.53688	D	0.999976	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.999	D	0.95659	0.8713	9	0.56958	D	0.05	.	16.3034	0.82836	0.0:0.0:0.0:1.0	.	213;752;239;239	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	H	847;239;239;213	ENSP00000374323:Y847H;ENSP00000421711:Y239H;ENSP00000423950:Y239H;ENSP00000403100:Y213H	ENSP00000374323:Y847H	Y	+	1	0	EPHA6	98812353	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.904000	0.75708	2.245000	0.73994	0.454000	0.30748	TAT		0.373	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448		6	112	0	0	0	1	0	6	112				
ACTL8	81569	broad.mit.edu	37	1	18152414	18152414	+	Silent	SNP	C	C	T	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	ENST00000375406.1	+	3	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	167					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	5	0.000998403	0.0	0.0014	5008	,	,		14373	0.0		0.004	False		,,,				2504	0.0					ENST00000375406.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28						c.(499-501)ccC>ccT		actin-like 8		C		2,4404	4.2+/-10.8	0,2,2201	29.0	29.0	29.0		501	-0.4	0.0	1	dbSNP_132	29	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	ACTL8	NM_030812.2		0,11,6492	TT,TC,CC		0.1047,0.0454,0.0846		167/367	18152414	11,12995	2203	4300	6503	SO:0001819	synonymous_variant	81569					cytoplasm|cytoskeleton		g.chr1:18152414C>T	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.501C>T	1.37:g.18152414C>T			OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	723		p.P167P	NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	3	717	+		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	167					Q13104|Q96M75	Silent	SNP	ENST00000375406.1	37	c.501C>T	CCDS183.1																																																																																				0.607	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007143.1	NM_030812		6	40	0	0	0	1	0	6	40				
CD300E	342510	broad.mit.edu	37	17	72613303	72613303	+	Silent	SNP	T	T	C			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:72613303T>C	ENST00000328630.3	-	2	382	c.342A>G	c.(340-342)tcA>tcG	p.S114S	CD300E_ENST00000392619.1_Silent_p.S141S|CD300E_ENST00000426295.2_Silent_p.S155S			Q496F6	CLM2_HUMAN	CD300e molecule	114	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGCGTGACCATGAATCCAGGA	0.547																																						ENST00000392619.1																			0				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(421-423)tcA>tcG		CD300e molecule							184.0	151.0	162.0					17																	72613303		2203	4300	6503	SO:0001819	synonymous_variant	342510					integral to membrane|plasma membrane	receptor activity	g.chr17:72613303T>C	BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.342A>G	17.37:g.72613303T>C						CD300E_ENST00000328630.3_Silent_p.S114S|CD300E_ENST00000426295.2_Silent_p.S155S	p.S141S	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN			2	458	-			114					B4DNS1|Q7Z7I3	Silent	SNP	ENST00000328630.3	37	c.423A>G	CCDS11702.1																																																																																				0.547	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_181449		6	163	0	0	0	1	0	6	163				
TTN	7273	broad.mit.edu	37	2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T	rs375190050		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	ENST00000591111.1	-	288	87360	c.87136G>A	c.(87136-87138)Ggc>Agc	p.G29046S	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN_ENST00000589042.1_Missense_Mutation_p.G30687S|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29046	Fibronectin type-III 111. {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)			TATTCATTGCCGTTTATTAGT	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.(92059-92061)Ggc>Agc		titin		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,3778		0,0,1889	123.0	117.0	119.0		64864,84355,65239,65440	5.5	1.0	2		119	1,8217		0,1,4108	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	56,56,56,56	0,1,5997	TT,TC,CC		0.0122,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	21622/26927,28119/33424,21747/27052,21814/27119	179414390	1,11995	1889	4109	5998	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179414390C>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.87136G>A	2.37:g.179414390C>T	ENSP00000465570:p.Gly29046Ser					TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29046S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S	p.G30687S	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)		338	92283	-			29046			Ig-like 138.		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.92059G>A		.	.	.	.	.	.	.	.	.	.	C	25.6	4.652806	0.88056	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.48	5.48	0.80851	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80576	0.4649	M	0.87547	2.89	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.971;0.971;0.971;0.988	D	0.83386	0.0015	9	0.87932	D	0	.	19.7173	0.96127	0.0:1.0:0.0:0.0	.	21622;21747;21814;29046	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28119;21622;21814;21747;21619	ENSP00000343764:G28119S;ENSP00000434586:G21622S;ENSP00000340554:G21814S;ENSP00000352154:G21747S	ENSP00000340554:G21814S	G	-	1	0	TTN	179122636	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.984000	0.70548	2.724000	0.93272	0.563000	0.77884	GGC		0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	84	0	0	0	1	0	5	84				
SLC6A13	6540	broad.mit.edu	37	12	346452	346452	+	Missense_Mutation	SNP	G	G	A	rs374740428		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17929	0.0		0.0	False		,,,				2504	0.0					ENST00000343164.4																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28						c.(568-570)Cgg>Tgg		solute carrier family 6 (neurotransmitter transporter), member 13		G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	48.0	54.0	52.0		292,568	4.6	1.0	12		52	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC6A13	NM_001190997.2,NM_016615.4	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	98/511,190/603	346452	1,13005	2203	4300	6503	SO:0001583	missense	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:346452G>A	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.568C>T	12.37:g.346452G>A	ENSP00000339260:p.Arg190Trp					SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	p.R190W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		6	620	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		190					B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	c.568C>T	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828245	0.71143	0.0	1.16E-4	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.75260	-0.92;-0.92;-0.92	5.48	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.89157	0.6635	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	D	0.91300	0.5066	10	0.51188	T	0.08	.	14.8879	0.70584	0.0:0.0:0.6722:0.3278	.	98;169;190	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	W	98;169;190;98	ENSP00000407104:R98W;ENSP00000339260:R190W;ENSP00000444606:R98W	ENSP00000318097:R169W	R	-	1	2	SLC6A13	216713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.579000	0.36536	1.534000	0.49203	0.638000	0.83543	CGG		0.617	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		4	86	0	0	0	1	0	4	86				
EIF4G3	8672	broad.mit.edu	37	1	21268144	21268144	+	Silent	SNP	G	G	A	rs369730180		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:21268144G>A	ENST00000264211.8	-	8	1529	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	EIF4G3_ENST00000536266.1_Silent_p.A49A|EIF4G3_ENST00000374927.4_Silent_p.A445A|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000374937.3_Silent_p.A451A|EIF4G3_ENST00000356916.3_Silent_p.A456A|EIF4G3_ENST00000400422.1_Silent_p.A445A|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000602326.1_Silent_p.A451A|EIF4G3_ENST00000544689.1_5'Flank	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	445					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACTGTGATGGCAGCACTCG	0.488																																						ENST00000602326.1																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(1351-1353)gcC>gcT		eukaryotic translation initiation factor 4 gamma, 3		G	,,,	2,4404	4.2+/-10.8	0,2,2201	166.0	159.0	161.0		1332,1353,1368,1335	3.4	0.8	1		161	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	EIF4G3	NM_001198801.1,NM_001198802.1,NM_001198803.1,NM_003760.4	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	444/1622,451/1592,456/516,445/1586	21268144	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21268144G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1335C>T	1.37:g.21268144G>A						EIF4G3_ENST00000374937.3_Silent_p.A451A|EIF4G3_ENST00000400422.1_Silent_p.A445A|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000356916.3_Silent_p.A456A|EIF4G3_ENST00000536266.1_Silent_p.A49A|EIF4G3_ENST00000264211.8_Silent_p.A445A|EIF4G3_ENST00000374927.4_Silent_p.A445A	p.A451A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	1936	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	445					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.1353C>T	CCDS214.1																																																																																				0.488	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		11	201	0	0	0	1	0	11	201				
NLRP6	171389	broad.mit.edu	37	11	281299	281299	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	ENST00000312165.5	+	4	1565	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_ENST00000534750.1_Missense_Mutation_p.A522V	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	522					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1564-1566)gCg>gTg		NLR family, pyrin domain containing 6							34.0	29.0	31.0					11																	281299		2197	4294	6491	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281299C>T	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1565C>T	11.37:g.281299C>T	ENSP00000309767:p.Ala522Val					NLRP6_ENST00000312165.5_Missense_Mutation_p.A522V	p.A522V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1770	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	522					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1565C>T	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	2.033	-0.421822	0.04734	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.74947	-0.89;-0.86	2.49	1.53	0.23141	.	1.000530	0.08067	N	0.999205	T	0.59348	0.2187	L	0.37561	1.115	0.09310	N	1	B;B	0.33857	0.274;0.429	B;B	0.27170	0.061;0.077	T	0.38286	-0.9668	10	0.15499	T	0.54	.	8.4783	0.33027	0.2341:0.7659:0.0:0.0	.	522;522	E9PJZ8;P59044	.;NALP6_HUMAN	V	522	ENSP00000433617:A522V;ENSP00000309767:A522V	ENSP00000309767:A522V	A	+	2	0	NLRP6	271299	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	0.089000	0.15002	0.574000	0.29417	-0.538000	0.04264	GCG		0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	21	0	0	0	1	0	5	21				
PCDHGC4	56098	broad.mit.edu	37	5	140865844	140865844	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140865844G>A	ENST00000306593.1	+	1	1104	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	368	Cadherin 4. {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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACTGTGGTGGCACTTA	0.547																																						ENST00000306593.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42						c.(1102-1104)gtG>gtA									105.0	92.0	96.0					5																	140865844		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140865844G>A	AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1104G>A	5.37:g.140865844G>A						PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron	p.V368V	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1104	+								Q495T2|Q9Y5C3	Silent	SNP	ENST00000306593.1	37	c.1104G>A	CCDS4262.1																																																																																				0.547	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1	NM_018928		9	77	0	0	0	1	0	9	77				
ZSWIM2	151112	broad.mit.edu	37	2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	rs200253183	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18511	0.0		0.0	False		,,,				2504	0.0					ENST00000295131.2																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52						c.(823-825)cGt>cAt		zinc finger, SWIM-type containing 2		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	123.0	107.0	112.0		824	5.8	1.0	2		112	0,8600		0,0,4300	no	missense	ZSWIM2	NM_182521.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	275/634	187698677	1,13005	2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187698677C>T	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.824G>A	2.37:g.187698677C>T	ENSP00000295131:p.Arg275His						p.R275H	NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		6	863	-			275					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.824G>A	CCDS33348.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.35	3.366207	0.61513	2.27E-4	0.0	ENSG00000163012	ENST00000295131	D	0.87650	-2.28	5.78	5.78	0.91487	.	0.000000	0.53938	D	0.000044	D	0.91287	0.7253	L	0.47190	1.495	0.47374	D	0.999403	D	0.89917	1.0	D	0.74023	0.982	D	0.91766	0.5424	10	0.87932	D	0	-19.6714	16.9191	0.86159	0.0:1.0:0.0:0.0	.	275	Q8NEG5	ZSWM2_HUMAN	H	275	ENSP00000295131:R275H	ENSP00000295131:R275H	R	-	2	0	ZSWIM2	187406922	0.998000	0.40836	0.997000	0.53966	0.106000	0.19336	4.940000	0.63533	2.722000	0.93159	0.467000	0.42956	CGT		0.363	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		13	60	0	0	0	1	0	13	60				
CFAP54	144535	broad.mit.edu	37	12	97082742	97082742	+	Silent	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:97082742G>A	ENST00000524981.4	+	43	6086	c.6063G>A	c.(6061-6063)ttG>ttA	p.L2021L				Q96N23	CL055_HUMAN		0																	GTTGCATTTTGTCTGCGTTAC	0.274																																						ENST00000524981.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						c.(1414-1416)ttG>ttA									146.0	136.0	140.0					12																	97082742		2201	4299	6500	SO:0001819	synonymous_variant	0							g.chr12:97082742G>A																												ENST00000524981.4:c.6063G>A	12.37:g.97082742G>A							p.L472L			Q6ZTY8	CL063_HUMAN			10	1416	+			446						Silent	SNP	ENST00000524981.4	37	c.1416G>A																																																																																					0.274	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			18	113	0	0	0	1	0	18	113				
PCBP4	57060	broad.mit.edu	37	3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|RP11-155D18.12_ENST00000488257.1_RNA	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637																																						ENST00000461554.1																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8						c.(667-669)gCg>gTg		poly(rC) binding protein 4							94.0	72.0	79.0					3																	51993277		2203	4300	6503	SO:0001583	missense	57060					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding	g.chr3:51993277G>A	AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.668C>T	3.37:g.51993277G>A	ENSP00000417196:p.Ala223Val					PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V	p.A223V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	11	999	-			223					Q96AH7	Missense_Mutation	SNP	ENST00000461554.1	37	c.668C>T	CCDS2839.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031765	0.35797	.	.	ENSG00000090097	ENST00000355852;ENST00000322099;ENST00000461554;ENST00000484633;ENST00000395013;ENST00000428823;ENST00000395014;ENST00000471622;ENST00000294192	T;T;T;T;T;T;T;T	0.33438	1.45;1.45;1.45;1.46;1.44;1.46;1.41;1.89	4.63	4.63	0.57726	.	0.195197	0.45126	D	0.000396	T	0.21103	0.0508	L	0.29908	0.895	0.39559	D	0.969099	B;B;B;B;B;P	0.37731	0.211;0.023;0.051;0.059;0.448;0.607	B;B;B;B;B;B	0.32289	0.03;0.009;0.02;0.02;0.058;0.143	T	0.07654	-1.0761	10	0.27082	T	0.32	-4.7424	14.7621	0.69612	0.0:0.0:1.0:0.0	.	223;180;63;223;244;189	C9J0A4;P57723-2;B3KM64;P57723;Q9GZT1;Q9HCU2	.;.;.;PCBP4_HUMAN;.;.	V	223;223;223;180;63;180;244;223;223	ENSP00000348111:A223V;ENSP00000322341:A223V;ENSP00000417196:A223V;ENSP00000417100:A180V;ENSP00000378460:A63V;ENSP00000395030:A180V;ENSP00000378461:A244V;ENSP00000418925:A223V	ENSP00000294192:A223V	A	-	2	0	PCBP4	51968317	0.770000	0.28543	0.909000	0.35828	0.979000	0.70002	4.684000	0.61686	2.271000	0.75665	0.563000	0.77884	GCG		0.637	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418		3	50	0	0	0	1	0	3	50				
CCDC158	339965	broad.mit.edu	37	4	77255306	77255306	+	Silent	SNP	A	A	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	ENST00000388914.3	-	18	2831	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393																																						ENST00000388914.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2677-2679)gcT>gcA		coiled-coil domain containing 158							166.0	159.0	161.0					4																	77255306		1921	4134	6055	SO:0001819	synonymous_variant	339965							g.chr4:77255306A>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2679T>A	4.37:g.77255306A>T							p.A893A	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN			18	2831	-			893					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2679T>A	CCDS43242.1																																																																																				0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		5	69	0	0	0	1	0	5	69				
KRTAP5-10	387273	broad.mit.edu	37	11	71276861	71276861	+	Silent	SNP	T	T	C	rs12792973		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:71276861T>C	ENST00000398531.1	+	1	253	c.228T>C	c.(226-228)tcT>tcC	p.S76S	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	76	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTGTGGCTCTTGTGGGGGCT	0.677																																						ENST00000398531.1																			0				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(226-228)tcT>tcC		keratin associated protein 5-10																																				SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276861T>C	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.228T>C	11.37:g.71276861T>C						KRTAP5-10_ENST00000376536.4_Intron	p.S76S	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	253	+			76			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.228T>C	CCDS41684.1																																																																																				0.677	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			6	351	0	0	0	1	0	6	351				
UBBP4	23666	broad.mit.edu	37	17	21731352	21731352	+	Silent	SNP	C	C	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21731352C>A	ENST00000584755.1	+	2	1051	c.654C>A	c.(652-654)ccC>ccA	p.P218P	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGAGTCGACCCTGCACCTGGT	0.552																																						ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(652-654)ccC>ccA																																						SO:0001819	synonymous_variant	0							g.chr17:21731352C>A	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.654C>A	17.37:g.21731352C>A						UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.P218P							2	1051	+									Silent	SNP	ENST00000584755.1	37	c.654C>A																																																																																					0.552	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			15	84	1	0	5.26018e-13	1	6.03725e-13	15	84				
ROM1	6094	broad.mit.edu	37	11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	ENST00000278833.3	+	2	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	ROM1_ENST00000534093.1_Silent_p.P41P|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000278845.4_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000394773.2_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	251					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602																																						ENST00000278833.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						c.(751-753)Caa>Taa		retinal outer segment membrane protein 1							80.0	78.0	79.0					11																	62381890		2202	4299	6501	SO:0001587	stop_gained	6094				cell adhesion|visual perception	integral to plasma membrane		g.chr11:62381890C>T	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.751C>T	11.37:g.62381890C>T	ENSP00000278833:p.Gln251*					ROM1_ENST00000534093.1_Silent_p.P41P	p.Q251*	NM_000327.3	NP_000318.1	Q03395	ROM1_HUMAN			2	1292	+			251					B2R978	Nonsense_Mutation	SNP	ENST00000278833.3	37	c.751C>T	CCDS8024.1	.	.	.	.	.	.	.	.	.	.	C	39	7.865685	0.98534	.	.	ENSG00000149489	ENST00000278833	.	.	.	5.38	4.44	0.53790	.	0.537068	0.19633	N	0.109629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-10.2657	13.5761	0.61875	0.0:0.8425:0.1575:0.0	.	.	.	.	X	251	.	ENSP00000278833:Q251X	Q	+	1	0	ROM1	62138466	0.800000	0.28916	1.000000	0.80357	0.990000	0.78478	2.187000	0.42602	1.210000	0.43336	0.462000	0.41574	CAA		0.602	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394929.1	NM_000327		19	94	0	0	0	1	0	19	94				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	85	1	0	0.000602214	1	0.000640249	4	85				
ZNF831	128611	broad.mit.edu	37	20	57766794	57766794	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	ENST00000371030.2	+	1	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	240							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687																																						ENST00000371030.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(718-720)ggC>ggT		zinc finger protein 831							29.0	35.0	33.0					20																	57766794		1898	4114	6012	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57766794C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.720C>T	20.37:g.57766794C>T							p.G240G	NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN			1	720	+	all_lung(29;0.0085)		240					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.720C>T	CCDS42894.1																																																																																				0.687	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		10	41	0	0	0	1	0	10	41				
PIGQ	9091	broad.mit.edu	37	16	633562	633562	+	Silent	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:633562C>T	ENST00000026218.5	+	10	2299	c.2211C>T	c.(2209-2211)agC>agT	p.S737S	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	737					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCGTCCCCAGCGGGCCCGGGC	0.627																																						ENST00000026218.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(2209-2211)agC>agT		phosphatidylinositol glycan anchor biosynthesis, class Q							36.0	38.0	37.0					16																	633562		2200	4300	6500	SO:0001819	synonymous_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:633562C>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.2211C>T	16.37:g.633562C>T						PIGQ_ENST00000321878.5_3'UTR	p.S737S	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN			10	2299	+		Hepatocellular(780;0.00335)	737					A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	ENST00000026218.5	37	c.2211C>T	CCDS10411.1																																																																																				0.627	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204		4	125	0	0	0	1	0	4	125				
CXCR1	3577	broad.mit.edu	37	2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	ENST00000295683.2	-	2	757	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	213					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.V213M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	AACAGCGGCACGATGAAGCCA	0.522																																						ENST00000295683.2																			1	Substitution - Missense(1)	p.V213M(1)	lung(1)	endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						c.(637-639)Gtg>Atg		chemokine (C-X-C motif) receptor 1							123.0	109.0	114.0					2																	219029298		2203	4300	6503	SO:0001583	missense	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029298C>T	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.637G>A	2.37:g.219029298C>T	ENSP00000295683:p.Val213Met						p.V213M	NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN			2	757	-			213					B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Missense_Mutation	SNP	ENST00000295683.2	37	c.637G>A	CCDS2409.1	.	.	.	.	.	.	.	.	.	.	C	2.432	-0.330610	0.05314	.	.	ENSG00000163464	ENST00000295683;ENST00000421691	T	0.40225	1.04	4.56	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.711100	0.13323	N	0.396529	T	0.29716	0.0742	L	0.43152	1.355	0.09310	N	1	B	0.18461	0.028	B	0.26094	0.066	T	0.23976	-1.0173	10	0.66056	D	0.02	.	3.8232	0.08843	0.2707:0.4468:0.1836:0.0989	.	213	P25024	CXCR1_HUMAN	M	213;157	ENSP00000295683:V213M	ENSP00000295683:V213M	V	-	1	0	CXCR1	218737543	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.173000	0.03108	-1.495000	0.01831	-2.372000	0.00235	GTG		0.522	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		10	114	0	0	0	1	0	10	114				
KRT27	342574	broad.mit.edu	37	17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T	rs377315465		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	ENST00000301656.3	-	6	1148	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547																																						ENST00000301656.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21						c.(1108-1110)Gag>Aag		keratin 27							151.0	151.0	151.0					17																	38933849		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933849C>T	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1108G>A	17.37:g.38933849C>T	ENSP00000301656:p.Glu370Lys					KRT27_ENST00000540723.1_5'UTR	p.E370K	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN			6	1148	-		Breast(137;0.000812)	370			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1108G>A	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938154	0.92526	.	.	ENSG00000171446	ENST00000301656	D	0.93712	-3.27	5.56	5.56	0.83823	Filament (1);	0.000000	0.64402	D	0.000003	D	0.95893	0.8663	M	0.90309	3.105	0.49130	D	0.999754	D	0.60160	0.987	P	0.53593	0.73	D	0.96073	0.9047	10	0.87932	D	0	.	12.245	0.54566	0.0:0.9222:0.0:0.0778	.	370	Q7Z3Y8	K1C27_HUMAN	K	370	ENSP00000301656:E370K	ENSP00000301656:E370K	E	-	1	0	KRT27	36187375	1.000000	0.71417	0.994000	0.49952	0.757000	0.42996	4.626000	0.61269	2.768000	0.95171	0.650000	0.86243	GAG		0.547	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		31	220	0	0	0	1	0	31	220				
PSORS1C1	170679	broad.mit.edu	37	6	31083952	31083952	+	Intron	SNP	G	G	A			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.S480S|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGGCACCAGCGGAGGGATCAG	0.622																																						ENST00000376288.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						c.(1438-1440)tcC>tcT		corneodesmosin							31.0	32.0	31.0					6																	31083952		2132	4168	6300	SO:0001627	intron_variant	1041				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity	g.chr6:31083952G>A	AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1284G>A	6.37:g.31083952G>A						PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	p.S480S	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN			2	1466	-			480					B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	ENST00000259881.9	37	c.1440C>T	CCDS34390.1																																																																																				0.622	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068		9	52	0	0	0	1	0	9	52				
PLEKHA1	59338	broad.mit.edu	37	10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T	rs201098598	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	ENST00000368990.3	+	3	294	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.R55C	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		16559	0.0		0.0	False		,,,				2504	0.0					ENST00000368988.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13						c.(163-165)Cgt>Tgt		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1							125.0	122.0	123.0					10																	124157455		2203	4300	6503	SO:0001583	missense	59338				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding	g.chr10:124157455C>T	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.163C>T	10.37:g.124157455C>T	ENSP00000357986:p.Arg55Cys					PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000494222.1_3'UTR	p.R55C			Q9HB21	PKHA1_HUMAN			3	286	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	55			PH 1.		B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	c.163C>T	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.193632	0.38707	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95;-0.95	5.41	4.51	0.55191	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.387251	0.32769	N	0.005671	T	0.44456	0.1294	N	0.00926	-1.1	0.39935	D	0.97433	B;B	0.06786	0.0;0.001	B;B	0.10450	0.001;0.005	T	0.41928	-0.9481	10	0.38643	T	0.18	-8.722	9.7643	0.40552	0.0:0.8431:0.0:0.1569	.	55;55	B3KQ55;Q9HB21	.;PKHA1_HUMAN	C	55	ENSP00000357986:R55C;ENSP00000357985:R55C;ENSP00000357984:R55C;ENSP00000438608:R55C;ENSP00000376547:R55C;ENSP00000394416:R55C	ENSP00000357984:R55C	R	+	1	0	PLEKHA1	124147445	0.996000	0.38824	1.000000	0.80357	0.999000	0.98932	1.475000	0.35409	1.424000	0.47217	0.655000	0.94253	CGT		0.299	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974		16	66	0	0	0	1	0	16	66				
PI4KB	5298	broad.mit.edu	37	1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	ENST00000368873.1	-	12	2519_2520	c.2351_2352insA	c.(2350-2352)cagfs	p.Q784fs	PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.Q796fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.Q452fs|PI4KB_ENST00000368875.2_Frame_Shift_Ins_p.Q796fs			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	784					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTGCAGCTGCTCCTCAGT	0.55																																					Colon(154;765 1838 9854 28443 37492)	ENST00000368875.2																			0				breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27						c.(2386-2388)cctfs		phosphatidylinositol 4-kinase, catalytic, beta																																				SO:0001589	frameshift_variant	5298				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr1:151265427_151265428insT	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.2352dupA	1.37:g.151265428_151265428dupT	ENSP00000357867:p.Gln784fs					PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.P796fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.P452fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.P769fs|PI4KB_ENST00000368873.1_Frame_Shift_Ins_p.P784fs|PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.P769fs	p.P796fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		13	2967_2968	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		784	S -> G (in Ref. 4; BAG57793).				B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Frame_Shift_Ins	INS	ENST00000368873.1	37	c.2387_2388insA																																																																																					0.550	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		19	76						19	76	---	---	---	---
CFAP45	25790	broad.mit.edu	37	1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A	rs371893609		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	ENST00000368099.4	-	11	1499	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R394W|CCDC19_ENST00000476696.1_5'UTR|RP11-190A12.7_ENST00000544342.1_5'Flank	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612																																						ENST00000426543.2																			0				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26						c.(1180-1182)Cgg>Tgg		coiled-coil domain containing 19		G	TRP/ARG	0,4406		0,0,2203	67.0	64.0	65.0		1435	5.3	1.0	1		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC19	NM_012337.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	479/552	159842876	1,13005	2203	4300	6503	SO:0001583	missense	25790					mitochondrion|soluble fraction		g.chr1:159842876G>A																												ENST00000368099.4:c.1435C>T	1.37:g.159842876G>A	ENSP00000357079:p.Arg479Trp					CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R479W	p.R394W			Q9UL16	CCD19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.151)		11	1635	-	all_hematologic(112;0.0597)		479						Missense_Mutation	SNP	ENST00000368099.4	37	c.1180C>T	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079842	0.76528	0.0	1.16E-4	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10573	2.86;2.86	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	M	0.82323	2.585	0.53005	D	0.999965	D	0.89917	1.0	D	0.74023	0.982	T	0.00920	-1.1514	9	.	.	.	-17.0171	11.7854	0.52039	0.0:0.0:0.8244:0.1756	.	479	Q9UL16	CCD19_HUMAN	W	479;394	ENSP00000357079:R479W;ENSP00000403044:R394W	.	R	-	1	2	CCDC19	158109500	0.676000	0.27567	1.000000	0.80357	0.988000	0.76386	0.816000	0.27267	2.609000	0.88269	0.655000	0.94253	CGG		0.612	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1			18	68	0	0	0	1	0	18	68				
LINC01250	101927554	broad.mit.edu	37	2	2910768	2910769	+	lincRNA	INS	-	-	T	rs142585959		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:2910768_2910769insT	ENST00000457478.1	-	0	594																											tccaccccctctcccCAGCCCA	0.698																																						ENST00000457478.1																			0																																																			0							g.chr2:2910768_2910769insT																													2.37:g.2910769_2910769dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.698	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	4						3	4	---	---	---	---
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:33602361delT	ENST00000468888.2	-	28	2939	c.2893delA	c.(2893-2895)atgfs	p.M965fs	CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000399362.4_Frame_Shift_Del_p.M964fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	745	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2890-2892)tgfs		cytoplasmic linker associated protein 2							188.0	194.0	192.0					3																	33602361		1841	4103	5944	SO:0001589	frameshift_variant	23122							g.chr3:33602361delT	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2893delA	3.37:g.33602361delT	ENSP00000419974:p.Met965fs					CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs	p.M964fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3243	-			966					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Frame_Shift_Del	DEL	ENST00000468888.2	37	c.2890delA																																																																																					0.343	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		7	187						7	187	---	---	---	---
PDE12	201626	broad.mit.edu	37	3	57542756	57542757	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:57542756_57542757insT	ENST00000311180.8	+	1	753_754	c.650_651insT	c.(649-654)tctcccfs	p.P218fs	PDE12_ENST00000487257.1_Frame_Shift_Ins_p.P218fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	218					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCGTCATTGTCTCCCTCCTCAC	0.594																																					Colon(125;308 1634 19198 50622 50717)	ENST00000311180.8																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20						c.(649-651)tccfs		phosphodiesterase 12																																				SO:0001589	frameshift_variant	201626						hydrolase activity	g.chr3:57542756_57542757insT	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.651dupT	3.37:g.57542757_57542757dupT	ENSP00000309142:p.Pro218fs					PDE12_ENST00000487257.1_Frame_Shift_Ins_p.S217fs	p.S217fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	753_754	+			217					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Frame_Shift_Ins	INS	ENST00000311180.8	37	c.650_651insT	CCDS33772.1																																																																																				0.594	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		43	275						43	275	---	---	---	---
PROM1	8842	broad.mit.edu	37	4	15995680	15995680	+	Frame_Shift_Del	DEL	T	T	-	rs376676164		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:15995680delT	ENST00000510224.1	-	16	1945	c.1697delA	c.(1696-1698)aatfs	p.N566fs	PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs			O43490	PROM1_HUMAN	prominin 1	566					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						AGTGCCTCTATTTTTTTTGCA	0.428																																						ENST00000505450.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						c.(1669-1671)atfs		prominin 1							189.0	187.0	188.0					4																	15995680		1901	4120	6021	SO:0001589	frameshift_variant	8842				camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding	g.chr4:15995680delT	AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1697delA	4.37:g.15995680delT	ENSP00000426809:p.Asn566fs					PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs	p.N557fs	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN			15	2282	-			566					Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	ENST00000510224.1	37	c.1670delA	CCDS47029.1																																																																																				0.428	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017		8	170						8	170	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190876218	190876219	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:190876218_190876219insAT	ENST00000226798.4	+	5	566_567	c.344_345insAT	c.(343-348)aaatatfs	p.KY115fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	115					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GGCTATGGAAAATATCTTGGTA	0.361																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(343-345)atafs		FSHD region gene 1																																				SO:0001589	frameshift_variant	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190876218_190876219insAT	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.347_348dupAT	4.37:g.190876221_190876222dupAT	ENSP00000226798:p.Lys115fs					FRG1_ENST00000514482.1_3'UTR	p.I115fs	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	5	566_567	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	115					A8K775	Frame_Shift_Ins	INS	ENST00000226798.4	37	c.344_345insAT	CCDS34121.1																																																																																				0.361	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	142						7	142	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs59743058|rs572502526|rs397974957|rs112016970	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													|||unknown(HR)	1070	0.213658	0.149	0.2219	5008	,	,		17460	0.1448		0.332	False		,,,				2504	0.2444					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407164_89407165insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407175_89407175dupT										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	INS	ENST00000532352.1	37																																																																																						0.302	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		2	4						2	4	---	---	---	---
ABCC6P1	653190	broad.mit.edu	37	16	18593649	18593649	+	RNA	DEL	A	A	-	rs534869505	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:18593649delA	ENST00000546162.2	+	0	805					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		ccctgtctcgaaaaaaaaaaa	0.507													|||unknown(NO_COVERAGE)	1040	0.207668	0.2322	0.2075	5008	,	,		21098	0.1905		0.175	False		,,,				2504	0.226					ENST00000546162.2																			0																																																			0							g.chr16:18593649delA	BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18593649delA								NR_003569.1						0	805	+									RNA	DEL	ENST00000546162.2	37																																																																																						0.507	ABCC6P1-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000435772.2	NR_003569		4	7						4	7	---	---	---	---
LINC01229	101928248	broad.mit.edu	37	16	79756932	79756934	+	lincRNA	DEL	TGG	TGG	-	rs397803293|rs140929970|rs59942846		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:79756932_79756934delTGG	ENST00000561510.1	+	0	361																											atgatggtgatggtggtggtggt	0.567																																						ENST00000561510.1																			0																																																			0							g.chr16:79756932_79756934delTGG																													16.37:g.79756941_79756943delTGG														0	361	+									RNA	DEL	ENST00000561510.1	37																																																																																						0.567	RP11-345M22.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434548.1			3	3						3	3	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				5	4						5	4	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43259793	43259794	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:43259793_43259794delTC	ENST00000269844.3	-	14	2017_2018	c.1907_1908delGA	c.(1906-1908)agafs	p.R636fs	PRDM15_ENST00000398548.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000422911.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000538201.1_Frame_Shift_Del_p.R270fs	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	636					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(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTTGGGTTTTCTCCCCCTTCG	0.599																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(919-921)afs		PR domain containing 15																																				SO:0001589	frameshift_variant	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43259793_43259794delTC	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.1907_1908delGA	21.37:g.43259795_43259796delTC	ENSP00000269844:p.Arg636fs					PRDM15_ENST00000538201.1_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000269844.3_Frame_Shift_Del_p.R636fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.R270fs	p.R307fs			P57071	PRD15_HUMAN			7	1021_1022	-			636					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Frame_Shift_Del	DEL	ENST00000269844.3	37	c.920_921delGA	CCDS13676.1																																																																																				0.599	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		17	394						17	394	---	---	---	---
