#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
SNX25	83891	broad.mit.edu	37	4	186283809	186283809	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:186283809A>G	ENST00000504273.1	+	18	2680	c.2386A>G	c.(2386-2388)Ata>Gta	p.I796V	SNX25_ENST00000264694.8_Missense_Mutation_p.I796V|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	796					negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CCGCCACGGTATAATAAAAAT	0.388																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(2386-2388)Ata>Gta		sorting nexin 25							150.0	165.0	160.0					4																	186283809		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186283809A>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.2386A>G	4.37:g.186283809A>G	ENSP00000426255:p.Ile796Val					SNX25_ENST00000264694.8_Missense_Mutation_p.I796V|SNX25_ENST00000512853.1_3'UTR	p.I796V			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	18	2680	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	796					Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.2386A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	9.907	1.208347	0.22205	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.30981	1.51;1.51	5.09	5.09	0.68999	Sorting nexin, C-terminal (1);	0.157463	0.56097	D	0.000031	T	0.16428	0.0395	N	0.16166	0.38	0.44927	D	0.997943	B;B;B	0.16802	0.019;0.001;0.018	B;B;B	0.19666	0.023;0.003;0.026	T	0.10337	-1.0634	10	0.11182	T	0.66	-21.6166	9.7983	0.40748	0.9131:0.0:0.0869:0.0	.	512;329;796	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	V	796;796;329	ENSP00000426255:I796V;ENSP00000264694:I796V	ENSP00000264693:I329V	I	+	1	0	SNX25	186520803	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	6.181000	0.71988	2.155000	0.67459	0.459000	0.35465	ATA		0.388	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		58	194	0	0	0	0.014410	0	58	194				
RITA1	84934	broad.mit.edu	37	12	113624689	113624689	+	Silent	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:113624689G>A	ENST00000548278.1	+	3	830	c.138G>A	c.(136-138)cgG>cgA	p.R46R	DDX54_ENST00000314045.7_5'Flank|RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Silent_p.R70R|DDX54_ENST00000306014.5_5'Flank|C12orf52_ENST00000549621.1_Silent_p.R46R	NM_032848.1	NP_116237.1	Q96K30	RITA1_HUMAN		46					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|nuclear export (GO:0051168)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	tubulin binding (GO:0015631)			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						CAGGCACCCGGCCTACCCCAC	0.642																																						ENST00000548278.1																			0				large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(136-138)cgG>cgA		chromosome 12 open reading frame 52							54.0	51.0	52.0					12																	113624689		2202	4300	6502	SO:0001819	synonymous_variant	84934				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding	g.chr12:113624689G>A																												ENST00000548278.1:c.138G>A	12.37:g.113624689G>A						RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000549621.1_Silent_p.R46R|C12orf52_ENST00000552495.1_Silent_p.R70R	p.R46R	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN			3	830	+			46					B3KVZ4|C9JIN1|F8VRG5|Q53GM3|Q96K25	Silent	SNP	ENST00000548278.1	37	c.138G>A	CCDS9166.1																																																																																				0.642	C12orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405239.1			7	31	0	0	0	0.006214	0	7	31				
SLC38A7	55238	broad.mit.edu	37	16	58705074	58705074	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr16:58705074C>A	ENST00000570101.1	-	9	1989	c.1106G>T	c.(1105-1107)cGg>cTg	p.R369L	SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.R280L|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.R369L			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	369					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCACTCGCCGCCGCCGCTC	0.667																																						ENST00000570101.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1105-1107)cGg>cTg		solute carrier family 38, member 7							31.0	35.0	34.0					16																	58705074		2194	4298	6492	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58705074C>A	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1106G>T	16.37:g.58705074C>A	ENSP00000454646:p.Arg369Leu					SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000564010.1_Missense_Mutation_p.R280L|SLC38A7_ENST00000219320.4_Missense_Mutation_p.R369L	p.R369L			Q9NVC3	S38A7_HUMAN			9	1989	-			369					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1106G>T	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125311	0.77436	.	.	ENSG00000103042	ENST00000219320	T	0.02050	4.48	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.10937	0.0267	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.02797	-1.1109	9	.	.	.	.	18.2483	0.89995	0.0:1.0:0.0:0.0	.	369	Q9NVC3	S38A7_HUMAN	L	369	ENSP00000219320:R369L	.	R	-	2	0	SLC38A7	57262575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.402000	0.79972	2.568000	0.86640	0.555000	0.69702	CGG		0.667	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231		4	24	1	0	0.00909568	0.009096	0.00983068	4	24				
OR5D18	219438	broad.mit.edu	37	11	55587567	55587567	+	Silent	SNP	C	C	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:55587567C>G	ENST00000333976.4	+	1	482	c.462C>G	c.(460-462)gtC>gtG	p.V154V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	154						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)				CCTGGGGAGTCTCATGTTCCT	0.478																																						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.(460-462)gtC>gtG		olfactory receptor, family 5, subfamily D, member 18							195.0	183.0	187.0					11																	55587567		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587567C>G	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.462C>G	11.37:g.55587567C>G							p.V154V	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	482	+		all_epithelial(135;0.208)	154					Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.462C>G	CCDS31510.1																																																																																				0.478	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		34	138	0	0	0	0.013726	0	34	138				
EPPK1	83481	broad.mit.edu	37	8	144940804	144940804	+	Silent	SNP	C	C	T	rs188369736	byFrequency	TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:144940804C>T	ENST00000525985.1	-	2	6689	c.6618G>A	c.(6616-6618)acG>acA	p.T2206T				P58107	EPIPL_HUMAN	epiplakin 1	2206						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCTTGCGTCGTGCTCCGTC	0.622													C|||	6	0.00119808	0.0	0.0	5008	,	,		17153	0.001		0.004	False		,,,				2504	0.001					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6616-6618)acG>acA		epiplakin 1		C		6,4072		0,6,2033	168.0	174.0	172.0		6618	-5.5	0.0	8		172	34,8322		0,34,4144	no	coding-synonymous	EPPK1	NM_031308.1		0,40,6177	TT,TC,CC		0.4069,0.1471,0.3217		2206/2420	144940804	40,12394	2039	4178	6217	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940804C>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6618G>A	8.37:g.144940804C>T							p.T2206T			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	6689	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2206					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6618G>A																																																																																					0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		49	196	0	0	0	0.014410	0	49	196				
SLC2A12	154091	broad.mit.edu	37	6	134349644	134349644	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:134349644G>A	ENST00000275230.5	-	2	1474	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	440					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GCTTAATCCAGCATTTAGCAA	0.478																																					Melanoma(122;1663 1672 14489 35294 41228)	ENST00000275230.5																			0				NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1318-1320)gCt>gTt		solute carrier family 2 (facilitated glucose transporter), member 12							163.0	148.0	153.0					6																	134349644		2203	4300	6503	SO:0001583	missense	154091					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	g.chr6:134349644G>A	AL035699	CCDS5169.1	6q23.2	2013-05-22			ENSG00000146411	ENSG00000146411		"""Solute carriers"""	18067	protein-coding gene	gene with protein product		610372				11780753, 11832379	Standard	XM_006715349		Approved	GLUT12, GLUT8	uc003qem.1	Q8TD20	OTTHUMG00000015611	ENST00000275230.5:c.1319C>T	6.37:g.134349644G>A	ENSP00000275230:p.Ala440Val						p.A440V	NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)	2	1474	-	Breast(56;0.214)|Colorectal(23;0.221)		440					B3KV17|Q7Z6U3|Q96MR8	Missense_Mutation	SNP	ENST00000275230.5	37	c.1319C>T	CCDS5169.1	.	.	.	.	.	.	.	.	.	.	G	3.417	-0.119049	0.06838	.	.	ENSG00000146411	ENST00000275230	T	0.79749	-1.3	5.03	2.88	0.33553	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	2.895120	0.00883	N	0.002153	T	0.50188	0.1601	N	0.20986	0.625	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40346	-0.9568	10	0.18710	T	0.47	-4.1694	9.0487	0.36363	0.169:0.1367:0.6943:0.0	.	440	Q8TD20	GTR12_HUMAN	V	440	ENSP00000275230:A440V	ENSP00000275230:A440V	A	-	2	0	SLC2A12	134391337	0.004000	0.15560	0.539000	0.28077	0.346000	0.29079	1.233000	0.32648	1.119000	0.41883	0.467000	0.42956	GCT		0.478	SLC2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042302.1			21	73	0	0	0	0.002780	0	21	73				
KMT2C	58508	broad.mit.edu	37	7	151970855	151970855	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:151970855G>C	ENST00000262189.6	-	7	1165	c.947C>G	c.(946-948)aCc>aGc	p.T316S	KMT2C_ENST00000355193.2_Missense_Mutation_p.T316S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	316			T -> S (in dbSNP:rs10454320).		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T316S(2)									ATCCTGAAAGGTGCCGGCTCC	0.433																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.T316S(2)	endometrium(2)								c.(946-948)aCc>aGc		lysine (K)-specific methyltransferase 2C							267.0	249.0	255.0					7																	151970855		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151970855G>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.947C>G	7.37:g.151970855G>C	ENSP00000262189:p.Thr316Ser					KMT2C_ENST00000262189.6_Missense_Mutation_p.T316S	p.T316S							7	1165	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.947C>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	13.33	2.204941	0.38905	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.70631	-0.5;-0.5	4.87	3.99	0.46301	Zinc finger, PHD-type (1);	0.000000	0.45867	D	0.000333	T	0.52370	0.1730	N	0.04994	-0.135	0.80722	D	1	P	0.39717	0.684	P	0.45099	0.469	T	0.49409	-0.8943	10	0.08381	T	0.77	.	13.4802	0.61332	0.0763:0.0:0.9237:0.0	.	316	Q8NEZ4	MLL3_HUMAN	S	316	ENSP00000262189:T316S;ENSP00000347325:T316S	ENSP00000262189:T316S	T	-	2	0	MLL3	151601788	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.781000	0.99029	1.196000	0.43129	0.650000	0.86243	ACC		0.433	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	236	0	0	0	0.001168	0	5	236				
AK4	205	broad.mit.edu	37	1	65684449	65684449	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:65684449C>T	ENST00000327299.7	+	3	483	c.278C>T	c.(277-279)aCa>aTa	p.T93I	AK4_ENST00000545314.1_Missense_Mutation_p.T93I|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000546702.1_Missense_Mutation_p.T41I|AK4_ENST00000395334.2_Missense_Mutation_p.T93I	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						TTTCCTAGGACATTAGGACAA	0.388																																						ENST00000395334.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						c.(277-279)aCa>aTa		adenylate kinase 4							71.0	68.0	69.0					1																	65684449		2203	4300	6503	SO:0001583	missense	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65684449C>T	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	ENST00000327299.7:c.278C>T	1.37:g.65684449C>T	ENSP00000322175:p.Thr93Ile					AK4_ENST00000546702.1_Missense_Mutation_p.T41I|AK4_ENST00000327299.7_Missense_Mutation_p.T93I|AK4_ENST00000545314.1_Missense_Mutation_p.T93I|AK4_ENST00000470888.2_3'UTR	p.T93I	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN			4	636	+			93						Missense_Mutation	SNP	ENST00000327299.7	37	c.278C>T	CCDS629.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534112	0.85812	.	.	ENSG00000162433	ENST00000545314;ENST00000546702;ENST00000395334;ENST00000327299	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	4.64	4.64	0.57946	.	0.046817	0.85682	D	0.000000	D	0.91570	0.7337	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94070	0.7334	10	0.87932	D	0	-23.8912	17.6549	0.88175	0.0:1.0:0.0:0.0	.	93	P27144	KAD4_HUMAN	I	93;41;93;93	ENSP00000445912:T93I;ENSP00000448458:T41I;ENSP00000378743:T93I;ENSP00000322175:T93I	ENSP00000322175:T93I	T	+	2	0	AK4	65457037	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.099000	0.76981	2.576000	0.86940	0.655000	0.94253	ACA		0.388	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	NM_013410		9	42	0	0	0	0.008291	0	9	42				
NIM1K	167359	broad.mit.edu	37	5	43280501	43280501	+	Silent	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr5:43280501G>C	ENST00000512796.1	+	4	2480	c.981G>C	c.(979-981)ggG>ggC	p.G327G	NIM1_ENST00000326035.2_Silent_p.G327G			Q8IY84	NIM1_HUMAN		327					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										GGATGCAAGGGGTGCCATACC	0.502																																						ENST00000512796.1																			0											c.(979-981)ggG>ggC									101.0	96.0	98.0					5																	43280501		2203	4300	6503	SO:0001819	synonymous_variant	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43280501G>C																												ENST00000512796.1:c.981G>C	5.37:g.43280501G>C						NIM1_ENST00000326035.2_Silent_p.G327G	p.G327G			Q8IY84	NIM1_HUMAN			4	2480	+			327					B3KVM1	Silent	SNP	ENST00000512796.1	37	c.981G>C	CCDS3943.1																																																																																				0.502	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1			17	74	0	0	0	0.004990	0	17	74				
STAB1	23166	broad.mit.edu	37	3	52557481	52557481	+	Missense_Mutation	SNP	C	C	A	rs377752438		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:52557481C>A	ENST00000321725.6	+	65	7255	c.7179C>A	c.(7177-7179)aaC>aaA	p.N2393K		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2393	FAS1 7. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGCCTCCAACGCCACCCTCC	0.617																																						ENST00000321725.6																			0				breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76						c.(7177-7179)aaC>aaA		stabilin 1							60.0	65.0	63.0					3																	52557481		2203	4300	6503	SO:0001583	missense	23166				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr3:52557481C>A	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.7179C>A	3.37:g.52557481C>A	ENSP00000312946:p.Asn2393Lys						p.N2393K	NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)	65	7255	+			2393			FAS1 7.		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	c.7179C>A	CCDS33768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.91|14.91	2.676805|2.676805	0.47886|0.47886	.|.	.|.	ENSG00000010327|ENSG00000010327	ENST00000321725|ENST00000469989	D|.	0.91631|.	-2.88|.	5.92|5.92	-6.71|-6.71	0.01760|0.01760	FAS1 domain (4);|.	0.310402|.	0.34178|.	N|.	0.004184|.	T|T	0.61022|0.61022	0.2314|0.2314	M|M	0.77103|0.77103	2.36|2.36	0.22521|0.22521	N|N	0.999022|0.999022	D;D|.	0.64830|.	0.994;0.987|.	P;P|.	0.60286|.	0.872;0.801|.	T|T	0.63341|0.63341	-0.6659|-0.6659	10|5	0.87932|.	D|.	0|.	.|.	15.9735|15.9735	0.80040|0.80040	0.0:0.2978:0.0:0.7022|0.0:0.2978:0.0:0.7022	.|.	280;2393|.	B3KSK0;Q9NY15|.	.;STAB1_HUMAN|.	K|S	2393|35	ENSP00000312946:N2393K|.	ENSP00000312946:N2393K|.	N|R	+|+	3|1	2|0	STAB1|STAB1	52532521|52532521	0.000000|0.000000	0.05858|0.05858	0.013000|0.013000	0.15412|0.15412	0.368000|0.368000	0.29767|0.29767	-2.306000|-2.306000	0.01133|0.01133	-1.269000|-1.269000	0.02436|0.02436	0.561000|0.561000	0.74099|0.74099	AAC|CGC		0.617	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136		9	21	1	0	7.48243e-07	0.006214	8.99573e-07	9	21				
HS3ST3B1	9953	broad.mit.edu	37	17	14205268	14205268	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:14205268G>T	ENST00000360954.2	+	1	869	c.433G>T	c.(433-435)Gtg>Ttg	p.V145L	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	145					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CATCATCGGCGTGAAGAAGGG	0.667																																						ENST00000360954.2																			0				large_intestine(3)|lung(3)|skin(1)	7						c.(433-435)Gtg>Ttg		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							12.0	14.0	13.0					17																	14205268		2192	4273	6465	SO:0001583	missense	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14205268G>T	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.433G>T	17.37:g.14205268G>T	ENSP00000354213:p.Val145Leu						p.V145L	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	869	+			145					B3KN58|D3DTS6	Missense_Mutation	SNP	ENST00000360954.2	37	c.433G>T	CCDS11167.1	.	.	.	.	.	.	.	.	.	.	G	35	5.556224	0.96514	.	.	ENSG00000125430	ENST00000360954	D	0.81996	-1.56	4.26	4.26	0.50523	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000007	D	0.93654	0.7973	H	0.95437	3.67	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.95562	0.8630	10	0.72032	D	0.01	.	17.2272	0.86973	0.0:0.0:1.0:0.0	.	145	Q9Y662	HS3SB_HUMAN	L	145	ENSP00000354213:V145L	ENSP00000354213:V145L	V	+	1	0	HS3ST3B1	14145993	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.065000	0.93941	2.375000	0.81037	0.555000	0.69702	GTG		0.667	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	NM_006041		4	19	1	0	2.56e-06	0.009096	3.01011e-06	4	19				
CCSER1	401145	broad.mit.edu	37	4	91229530	91229530	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:91229530C>T	ENST00000509176.1	+	2	383	c.95C>T	c.(94-96)tCa>tTa	p.S32L	CCSER1_ENST00000333691.8_Missense_Mutation_p.S32L|CCSER1_ENST00000432775.2_Missense_Mutation_p.S32L	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	32	Ser-rich.																CTTCCTTCTTCACCTTCTTCC	0.468																																						ENST00000509176.1																			0											c.(94-96)tCa>tTa		coiled-coil serine-rich protein 1							110.0	100.0	103.0					4																	91229530		1943	4147	6090	SO:0001583	missense	401145							g.chr4:91229530C>T		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.95C>T	4.37:g.91229530C>T	ENSP00000425040:p.Ser32Leu					CCSER1_ENST00000432775.2_Missense_Mutation_p.S32L|CCSER1_ENST00000333691.8_Missense_Mutation_p.S32L	p.S32L	NM_001145065.1	NP_001138537.1					2	383	+								Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	c.95C>T	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656359	0.88056	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.62232	0.5;0.04;0.5	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.48642	1.525	0.46981	D	0.999279	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-14.2846	19.5936	0.95526	0.0:1.0:0.0:0.0	.	32;32;32	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	L	32	ENSP00000425040:S32L;ENSP00000389283:S32L;ENSP00000329482:S32L	ENSP00000329482:S32L	S	+	2	0	FAM190A	91448553	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.501000	0.66950	2.793000	0.96121	0.655000	0.94253	TCA		0.468	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		6	34	0	0	0	0.001984	0	6	34				
LINC00922	283867	broad.mit.edu	37	16	65319299	65319299	+	lincRNA	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr16:65319299C>T	ENST00000569736.1	-	0	862				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		GGATTGTAGCCTGGCTCCACA	0.473																																						ENST00000569736.1																			0																				135.0	131.0	132.0					16																	65319299		1932	4153	6085			283867							g.chr16:65319299C>T	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65319299C>T						RP11-256I9.3_ENST00000562656.1_lincRNA		NR_027755.1						0	862	-									RNA	SNP	ENST00000569736.1	37																																																																																						0.473	LINC00922-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000420601.2	NR_027755		7	45	0	0	0	0.001984	0	7	45				
TLN2	83660	broad.mit.edu	37	15	62989996	62989996	+	Missense_Mutation	SNP	G	G	A	rs200753658		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr15:62989996G>A	ENST00000561311.1	+	14	1632	c.1402G>A	c.(1402-1404)Gtt>Att	p.V468I	TLN2_ENST00000306829.6_Missense_Mutation_p.V468I			Q9Y4G6	TLN2_HUMAN	talin 2	468					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACCTTCAACGTTGGCAGCAT	0.667																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1402-1404)Gtt>Att		talin 2							47.0	48.0	47.0					15																	62989996		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62989996G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1402G>A	15.37:g.62989996G>A	ENSP00000453508:p.Val468Ile					TLN2_ENST00000306829.6_Missense_Mutation_p.V468I	p.V468I			Q9Y4G6	TLN2_HUMAN			14	1632	+			468					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.1402G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	g	12.56	1.975236	0.34848	.	.	ENSG00000171914	ENST00000306829	T	0.68331	-0.32	5.41	-0.391	0.12446	.	0.475802	0.25014	N	0.033811	T	0.51822	0.1697	L	0.38531	1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45614	-0.9249	10	0.41790	T	0.15	-6.4897	11.0588	0.47936	0.4399:0.0:0.5601:0.0	.	468	Q9Y4G6	TLN2_HUMAN	I	468	ENSP00000303476:V468I	ENSP00000303476:V468I	V	+	1	0	TLN2	60777288	0.000000	0.05858	0.010000	0.14722	0.977000	0.68977	-0.031000	0.12287	0.088000	0.17205	-0.119000	0.15052	GTT		0.667	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			17	25	0	0	0	0.004990	0	17	25				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			10	99	0	0	0	0.010729	0	10	99				
ZNF99	7652	broad.mit.edu	37	19	22940099	22940099	+	IGR	SNP	T	T	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr19:22940099T>G	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K744N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATTTGTAGGGTTTCTTTCCAG	0.348																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(2230-2232)aaA>aaC		zinc finger protein 99							44.0	49.0	47.0					19																	22940099		2023	4209	6232	SO:0001628	intergenic_variant	7652							g.chr19:22940099T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22940099T>G							p.K744N							6	2231	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2232A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	11.47	1.649771	0.29336	.	.	ENSG00000213973	ENST00000397104	T	0.26067	1.76	1.14	1.14	0.20703	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45094	0.1325	M	0.76574	2.34	0.25959	N	0.982643	D	0.76494	0.999	D	0.70716	0.97	T	0.18178	-1.0345	9	0.62326	D	0.03	.	7.2366	0.26074	0.0:0.0:0.0:1.0	.	744	A8MXY4	ZNF99_HUMAN	N	744	ENSP00000380293:K744N	ENSP00000380293:K744N	K	-	3	2	ZNF99	22731939	0.147000	0.22687	0.002000	0.10522	0.149000	0.21700	0.110000	0.15437	0.491000	0.27793	0.145000	0.16022	AAA		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		12	55	0	0	0	0.003163	0	12	55				
EPHB2	2048	broad.mit.edu	37	1	23219501	23219501	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:23219501G>A	ENST00000400191.3	+	7	1571	c.1553G>A	c.(1552-1554)cGc>cAc	p.R518H	EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R513H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R518H|EPHB2_ENST00000374632.3_Missense_Mutation_p.R518H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGTTACGGGCGCTACAGCGGC	0.592																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1552-1554)cGc>cAc		EPH receptor B2							65.0	65.0	65.0					1																	23219501		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23219501G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1553G>A	1.37:g.23219501G>A	ENSP00000383053:p.Arg518His					EPHB2_ENST00000374632.3_Missense_Mutation_p.R518H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R518H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374627.1_Missense_Mutation_p.R513H	p.R518H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	7	1571	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	518			Fibronectin type-III 2.		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1553G>A		.	.	.	.	.	.	.	.	.	.	G	26.7	4.759720	0.89932	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.064442	0.64402	D	0.000005	T	0.62073	0.2398	M	0.71296	2.17	0.80722	D	1	B;D;P;P	0.54601	0.008;0.967;0.943;0.941	B;P;P;P	0.53954	0.002;0.738;0.738;0.62	T	0.62632	-0.6813	10	0.45353	T	0.12	.	11.0232	0.47730	0.0849:0.0:0.9151:0.0	.	518;518;536;518	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	H	518;518;518;518;513	ENSP00000363761:R518H;ENSP00000383053:R518H;ENSP00000363763:R518H;ENSP00000363758:R513H	ENSP00000363755:R518H	R	+	2	0	EPHB2	23092088	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.819000	0.86621	2.723000	0.93209	0.655000	0.94253	CGC		0.592	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		19	50	0	0	0	0.008871	0	19	50				
GPRIN2	9721	broad.mit.edu	37	10	46999772	46999772	+	Missense_Mutation	SNP	G	G	A	rs148764984	byFrequency	TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:46999772G>A	ENST00000374317.1	+	3	1165	c.892G>A	c.(892-894)Ggt>Agt	p.G298S	GPRIN2_ENST00000374314.4_Missense_Mutation_p.G298S	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	298										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCACCTTTGGGGTCCCGCTGG	0.612																																						ENST00000374314.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						c.(892-894)Ggt>Agt		G protein regulated inducer of neurite outgrowth 2							73.0	78.0	76.0					10																	46999772		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999772G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.892G>A	10.37:g.46999772G>A	ENSP00000363436:p.Gly298Ser					GPRIN2_ENST00000374317.1_Missense_Mutation_p.G298S	p.G298S			O60269	GRIN2_HUMAN			1	1847	+			298					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.892G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	9.538	1.112669	0.20795	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03272	3.99;3.99	4.55	3.62	0.41486	.	0.000000	0.44902	D	0.000411	T	0.04998	0.0134	L	0.46157	1.445	0.29680	N	0.841767	P	0.40731	0.728	B	0.43445	0.42	T	0.12993	-1.0526	10	0.13108	T	0.6	-7.0266	11.1184	0.48275	0.0:0.1883:0.8117:0.0	.	298	O60269	GRIN2_HUMAN	S	298	ENSP00000363436:G298S;ENSP00000363433:G298S	ENSP00000363433:G298S	G	+	1	0	GPRIN2	46419778	0.444000	0.25649	0.975000	0.42487	0.037000	0.13140	0.890000	0.28295	1.200000	0.43188	0.436000	0.28706	GGT		0.612	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		3	64	0	0	0	0.004672	0	3	64				
IDO1	3620	broad.mit.edu	37	8	39785691	39785691	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:39785691T>G	ENST00000518237.1	+	10	1838	c.1199T>G	c.(1198-1200)tTg>tGg	p.L400W	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.L400W	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	400					cellular nitrogen compound metabolic process (GO:0034641)|cytokine production involved in inflammatory response (GO:0002534)|female pregnancy (GO:0007565)|kynurenic acid biosynthetic process (GO:0034276)|multicellular organismal response to stress (GO:0033555)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response (GO:0002678)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of type 2 immune response (GO:0002830)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|swimming behavior (GO:0036269)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytosol (GO:0005829)|smooth muscle contractile fiber (GO:0030485)|stereocilium bundle (GO:0032421)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)|Melatonin(DB01065)	AAATCCCTTTTGAAGGAAGGT	0.398																																						ENST00000518237.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12						c.(1198-1200)tTg>tGg		indoleamine 2,3-dioxygenase 1	L-Tryptophan(DB00150)						37.0	35.0	36.0					8																	39785691		1886	4105	5991	SO:0001583	missense	3620				female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39785691T>G	M34455	CCDS47847.1	8p12-p11	2009-01-07	2009-01-07	2009-01-07		ENSG00000131203	1.13.11.52		6059	protein-coding gene	gene with protein product		147435	"""indoleamine-pyrrole 2,3 dioxygenase"""	IDO, INDO		2109605, 8404046	Standard	NM_002164		Approved		uc003xnm.3	P14902		ENST00000518237.1:c.1199T>G	8.37:g.39785691T>G	ENSP00000430950:p.Leu400Trp					IDO1_ENST00000522495.1_Missense_Mutation_p.L400W|RP11-44K6.3_ENST00000517623.1_RNA	p.L400W	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN			10	1838	+			400					Q540B4	Missense_Mutation	SNP	ENST00000518237.1	37	c.1199T>G	CCDS47847.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.409663	0.62399	.	.	ENSG00000131203	ENST00000522495;ENST00000518237	T;T	0.47869	0.83;0.83	5.65	5.65	0.86999	.	0.503793	0.18083	N	0.152233	T	0.72399	0.3455	M	0.88031	2.925	0.19300	N	0.999978	D	0.89917	1.0	D	0.79784	0.993	T	0.68303	-0.5444	9	.	.	.	-4.6797	12.1892	0.54261	0.0:0.0:0.0:1.0	.	400	P14902	I23O1_HUMAN	W	400	ENSP00000430505:L400W;ENSP00000430950:L400W	.	L	+	2	0	IDO1	39904848	0.889000	0.30405	0.171000	0.22900	0.165000	0.22458	3.461000	0.53035	2.371000	0.80710	0.533000	0.62120	TTG		0.398	IDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376987.1	NM_002164		4	15	0	0	0	0.009096	0	4	15				
PPP1R16A	84988	broad.mit.edu	37	8	145724384	145724384	+	Missense_Mutation	SNP	C	C	T	rs201560921		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:145724384C>T	ENST00000292539.4	+	4	1333	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.T139M|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	139						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAGTGCTGGACGCCTCTGCAT	0.622																																						ENST00000292539.4																			0				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8						c.(415-417)aCg>aTg		protein phosphatase 1, regulatory subunit 16A							64.0	50.0	55.0					8																	145724384		2203	4300	6503	SO:0001583	missense	84988					plasma membrane	protein binding	g.chr8:145724384C>T		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.416C>T	8.37:g.145724384C>T	ENSP00000292539:p.Thr139Met					PPP1R16A_ENST00000435887.1_Missense_Mutation_p.T139M|CTD-2517M14.5_ENST00000569326.1_RNA|CTD-2517M22.14_ENST00000532766.1_RNA	p.T139M			Q96I34	PP16A_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	1333	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		139					D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	c.416C>T	CCDS6429.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	28.0|28.0|28.0	4.886224|4.886224|4.886224	0.91814|0.91814|0.91814	.|.|.	.|.|.	ENSG00000255182|ENSG00000160972|ENSG00000255182	ENST00000532766|ENST00000292539;ENST00000435887|ENST00000527086	.|T;T|.	.|0.75154|.	.|-0.91;-0.91|.	5.0|5.0|5.0	5.0|5.0|5.0	0.66597|0.66597|0.66597	.|Ankyrin repeat-containing domain (4);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.85287|0.85287|0.85287	0.5662|0.5662|0.5662	M|M|M	0.92784|0.92784|0.92784	3.345|3.345|3.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.91635|.	.|0.999|.	D|D|D	0.89143|0.89143|0.89143	0.3518|0.3518|0.3518	6|10|6	0.87932|0.87932|0.87932	D|D|D	0|0|0	.|.|.	15.7821|15.7821|15.7821	0.78269|0.78269|0.78269	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|139|.	.|Q96I34|.	.|PP16A_HUMAN|.	H|M|I	4|139|19	.|ENSP00000292539:T139M;ENSP00000391126:T139M|.	ENSP00000435686:R4H|ENSP00000292539:T139M|ENSP00000437304:V19I	R|T|V	-|+|-	2|2|1	0|0|0	CTD-2517M22.14|PPP1R16A|CTD-2517M22.14	145695192|145695192|145695192	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.907000|0.907000|0.907000	0.53573|0.53573|0.53573	7.671000|7.671000|7.671000	0.83941|0.83941|0.83941	2.316000|2.316000|2.316000	0.78162|0.78162|0.78162	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	CGT|ACG|GTC		0.622	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382459.1	NM_032902		10	49	0	0	0	0.010729	0	10	49				
CAMK1D	57118	broad.mit.edu	37	10	12870837	12870837	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:12870837G>A	ENST00000378847.3	+	11	1446	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q		NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	370					inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGAGCCGAGCGGAGACCCAGG	0.642																																						ENST00000378847.3																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16						c.(1108-1110)cGg>cAg		calcium/calmodulin-dependent protein kinase ID							52.0	50.0	51.0					10																	12870837		2203	4300	6503	SO:0001583	missense	57118					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:12870837G>A	AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.1109G>A	10.37:g.12870837G>A	ENSP00000368124:p.Arg370Gln						p.R370Q	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN		GBM - Glioblastoma multiforme(1;3.16e-05)	11	1446	+			370					B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	c.1109G>A	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721469	0.68959	.	.	ENSG00000183049	ENST00000378847	T	0.67865	-0.29	5.7	5.7	0.88788	.	0.292566	0.32952	N	0.005459	T	0.67268	0.2875	L	0.46157	1.445	0.80722	D	1	P	0.50369	0.934	P	0.49528	0.614	T	0.61564	-0.7037	10	0.18276	T	0.48	-14.7498	16.99	0.86351	0.0:0.0:1.0:0.0	.	370	Q8IU85	KCC1D_HUMAN	Q	370	ENSP00000368124:R370Q	ENSP00000368124:R370Q	R	+	2	0	CAMK1D	12910843	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	4.800000	0.62524	2.685000	0.91497	0.561000	0.74099	CGG		0.642	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397		7	26	0	0	0	0.003080	0	7	26				
GTF2E1	2960	broad.mit.edu	37	3	120469672	120469672	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr3:120469672C>G	ENST00000283875.5	+	2	366	c.273C>G	c.(271-273)taC>taG	p.Y91*		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	91	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCCATAACTACTACTTCATCA	0.398																																						ENST00000283875.5																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(271-273)taC>taG		general transcription factor IIE, polypeptide 1, alpha 56kDa							74.0	74.0	74.0					3																	120469672		2203	4300	6503	SO:0001587	stop_gained	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469672C>G	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.273C>G	3.37:g.120469672C>G	ENSP00000283875:p.Tyr91*						p.Y91*	NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	366	+			91			HTH TFE/IIEalpha-type.		Q16103	Nonsense_Mutation	SNP	ENST00000283875.5	37	c.273C>G	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599731	0.87055	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	.	.	.	6.06	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.9728	11.268	0.49122	0.0:0.7967:0.0:0.2033	.	.	.	.	X	91	.	.	Y	+	3	2	GTF2E1	121952362	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.771000	0.38542	0.895000	0.36342	0.655000	0.94253	TAC		0.398	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513		9	38	0	0	0	0.004482	0	9	38				
REEP1	65055	broad.mit.edu	37	2	86459838	86459838	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:86459838C>T	ENST00000165698.5	-	6	648	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	REEP1_ENST00000535845.1_Missense_Mutation_p.G142S|REEP1_ENST00000473407.1_5'Flank|REEP1_ENST00000540790.1_Missense_Mutation_p.G148S|REEP1_ENST00000538924.1_Missense_Mutation_p.G176S|REEP1_ENST00000541910.1_Silent_p.R90R	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	169					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein insertion into membrane (GO:0051205)|regulation of intracellular transport (GO:0032386)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	microtubule binding (GO:0008017)|olfactory receptor binding (GO:0031849)			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GGTGGGGGGCCCGAGGGAGCA	0.647																																						ENST00000165698.5																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(505-507)Ggc>Agc		receptor accessory protein 1							35.0	34.0	34.0					2																	86459838		2203	4300	6503	SO:0001583	missense	65055				cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	g.chr2:86459838C>T	AK023172	CCDS1989.1, CCDS54372.1, CCDS54373.1, CCDS54374.1	2p11.2	2014-09-17	2006-02-07	2006-02-07	ENSG00000068615	ENSG00000068615		"""Receptor accessory proteins"""	25786	protein-coding gene	gene with protein product	"""receptor expression enhancing protein 1"""	609139	"""chromosome 2 open reading frame 23"""	C2orf23		16271481, 15550249	Standard	NM_022912		Approved	FLJ13110, SPG31	uc002srh.4	Q9H902	OTTHUMG00000130205	ENST00000165698.5:c.505G>A	2.37:g.86459838C>T	ENSP00000165698:p.Gly169Ser					REEP1_ENST00000535845.1_Missense_Mutation_p.G142S|REEP1_ENST00000541910.1_Silent_p.R90R|REEP1_ENST00000540790.1_Missense_Mutation_p.G148S|REEP1_ENST00000538924.1_Missense_Mutation_p.G176S	p.G169S	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN			6	648	-			169					B7Z4D7|B7Z4F2|B7Z5R9|D6W5M2|Q53TI0	Missense_Mutation	SNP	ENST00000165698.5	37	c.505G>A	CCDS1989.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352396	0.61293	.	.	ENSG00000068615	ENST00000165698;ENST00000538924;ENST00000535845;ENST00000540790;ENST00000453231	D;D;T;T;D	0.87179	-2.19;-2.22;-1.36;-1.36;-2.21	5.48	1.33	0.21861	.	0.271344	0.32244	N	0.006361	T	0.68550	0.3013	.	.	.	0.19300	N	0.999974	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.50767	-0.8789	9	0.08381	T	0.77	.	4.8058	0.13319	0.0:0.495:0.2294:0.2755	.	142;148;169	B7Z5R9;F5H7Z9;Q9H902	.;.;REEP1_HUMAN	S	169;176;142;148;176	ENSP00000165698:G169S;ENSP00000438346:G176S;ENSP00000437567:G142S;ENSP00000443831:G148S;ENSP00000392197:G176S	ENSP00000165698:G169S	G	-	1	0	REEP1	86313349	0.123000	0.22298	0.367000	0.25926	0.475000	0.33008	0.304000	0.19228	0.341000	0.23771	0.655000	0.94253	GGC		0.647	REEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252523.2	NM_022912		9	25	0	0	0	0.008291	0	9	25				
PDCD11	22984	broad.mit.edu	37	10	105201732	105201732	+	Splice_Site	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:105201732G>A	ENST00000369797.3	+	31	4801	c.4707G>A	c.(4705-4707)acG>acA	p.T1569T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1569					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACCAAGCCACGGTGCTGTATT	0.572																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.e31+1		programmed cell death 11							63.0	74.0	70.0					10																	105201732		2203	4300	6503	SO:0001630	splice_region_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105201732G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4707+1G>A	10.37:g.105201732G>A							p.T1569_splice	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	31	4801	+		Colorectal(252;0.0747)|Breast(234;0.128)	1569					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Splice_Site	SNP	ENST00000369797.3	37	c.4707_splice	CCDS31276.1																																																																																				0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		Silent	5	35	0	0	0	0.008291	0	5	35				
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	100133163							g.chr22:18844766G>A																												ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A														0	3016	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			3	13	0	0	0	0.004672	0	3	13				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			4	131	0	0	0	0.009096	0	4	131				
FAM155A	728215	broad.mit.edu	37	13	107863084	107863084	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:107863084A>T	ENST00000375915.2	-	2	1073	c.935T>A	c.(934-936)cTc>cAc	p.L312H		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	312						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGGGAACAGAGCCAGGCTTT	0.413											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(934-936)cTc>cAc		family with sequence similarity 155, member A							83.0	80.0	81.0					13																	107863084		2203	4300	6503	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:107863084A>T	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.935T>A	13.37:g.107863084A>T	ENSP00000365080:p.Leu312His		OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1407		p.L312H	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			2	1073	-			312					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.935T>A	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.202337	0.79127	.	.	ENSG00000204442	ENST00000375915	T	0.14893	2.47	5.86	5.86	0.93980	.	0.077388	0.53938	D	0.000051	T	0.39655	0.1086	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.14839	-1.0458	10	0.87932	D	0	.	15.4195	0.75000	1.0:0.0:0.0:0.0	.	312	B1AL88	F155A_HUMAN	H	312	ENSP00000365080:L312H	ENSP00000365080:L312H	L	-	2	0	FAM155A	106661085	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.957000	0.93082	2.225000	0.72522	0.528000	0.53228	CTC		0.413	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		7	41	0	0	0	0.001984	0	7	41				
ACYP1	97	broad.mit.edu	37	14	75520263	75520263	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:75520263T>C	ENST00000238618.3	-	3	287	c.184A>G	c.(184-186)Atg>Gtg	p.M62V	ACYP1_ENST00000555694.1_Missense_Mutation_p.M62V|MLH3_ENST00000556257.1_5'Flank|MLH3_ENST00000238662.7_5'Flank|MLH3_ENST00000380968.2_5'Flank|ACYP1_ENST00000357971.3_3'UTR|MLH3_ENST00000355774.2_5'Flank|ACYP1_ENST00000555463.1_Missense_Mutation_p.M92V	NM_001107.3	NP_001098.1	P07311	ACYP1_HUMAN	acylphosphatase 1, erythrocyte (common) type	62	Acylphosphatase-like. {ECO:0000255|PROSITE-ProRule:PRU00520}.				phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)	acylphosphatase activity (GO:0003998)			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		CATTCCTGCATATGACGCACC	0.468																																						ENST00000555463.1																			0				large_intestine(2)	2						c.(274-276)Atg>Gtg		acylphosphatase 1, erythrocyte (common) type							259.0	231.0	240.0					14																	75520263		2203	4300	6503	SO:0001583	missense	97				phosphate metabolic process		acylphosphatase activity	g.chr14:75520263T>C	X84194	CCDS9838.1, CCDS45137.1	14q24.3	2014-08-08			ENSG00000119640	ENSG00000119640	3.6.1.7		179	protein-coding gene	gene with protein product		600875				7796909, 9730610	Standard	NM_001107		Approved		uc001xrg.3	P07311	OTTHUMG00000171767	ENST00000238618.3:c.184A>G	14.37:g.75520263T>C	ENSP00000238618:p.Met62Val					ACYP1_ENST00000238618.3_Missense_Mutation_p.M62V|ACYP1_ENST00000357971.3_3'UTR|ACYP1_ENST00000555694.1_Missense_Mutation_p.M62V	p.M92V			P07311	ACYP1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00646)	3	465	-			62			Acylphosphatase-like.		A6NDV8|B2R590	Missense_Mutation	SNP	ENST00000238618.3	37	c.274A>G	CCDS9838.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635022	0.67130	.	.	ENSG00000119640	ENST00000238618;ENST00000555463;ENST00000555694	.	.	.	5.63	4.42	0.53409	Acylphosphatase-like (3);	0.121669	0.64402	D	0.000001	T	0.74943	0.3783	.	.	.	0.80722	D	1	D	0.55385	0.971	P	0.60068	0.868	T	0.78954	-0.2000	8	0.87932	D	0	-21.0472	13.2773	0.60194	0.0:0.0:0.2173:0.7827	.	62	P07311	ACYP1_HUMAN	V	62;92;62	.	ENSP00000238618:M62V	M	-	1	0	ACYP1	74590016	0.999000	0.42202	0.939000	0.37840	0.977000	0.68977	3.182000	0.50910	2.158000	0.67659	0.378000	0.23410	ATG		0.468	ACYP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415013.1			49	138	0	0	0	0.014410	0	49	138				
OTOGL	283310	broad.mit.edu	37	12	80655768	80655768	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:80655768G>A	ENST00000547103.1	+	18	1888	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	OTOGL_ENST00000458043.2_Missense_Mutation_p.E628K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	628	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGGCATGATAGAAGGTACACC	0.398																																						ENST00000458043.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(1882-1884)Gaa>Aaa		otogelin-like							126.0	127.0	127.0					12																	80655768		1940	4132	6072	SO:0001583	missense	283310							g.chr12:80655768G>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1882G>A	12.37:g.80655768G>A	ENSP00000447211:p.Glu628Lys					OTOGL_ENST00000547103.1_Missense_Mutation_p.E628K	p.E628K	NM_173591.3	NP_775862.3					18	1888	+								F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.1882G>A		.	.	.	.	.	.	.	.	.	.	G	32	5.182276	0.94885	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.19938	2.11;2.11	5.57	5.57	0.84162	.	.	.	.	.	T	0.58206	0.2106	M	0.91140	3.18	0.80722	D	1	.	.	.	.	.	.	T	0.67280	-0.5710	7	0.72032	D	0.01	.	19.5529	0.95328	0.0:0.0:1.0:0.0	.	.	.	.	K	628	ENSP00000447211:E628K;ENSP00000400895:E628K	ENSP00000400895:E628K	E	+	1	0	OTOGL	79179899	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.281000	0.95811	2.621000	0.88768	0.655000	0.94253	GAA		0.398	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	NM_173591		11	58	0	0	0	0.013537	0	11	58				
GRM8	2918	broad.mit.edu	37	7	126746588	126746588	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:126746588C>T	ENST00000339582.2	-	3	1497	c.689G>A	c.(688-690)aGc>aAc	p.S230N	GRM8_ENST00000405249.1_Missense_Mutation_p.S230N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S230N|GRM8_ENST00000358373.3_Missense_Mutation_p.S230N			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	230					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CTCCACACCGCTCTCACCATA	0.507										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(688-690)aGc>aAc		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						120.0	100.0	107.0					7																	126746588		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126746588C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.689G>A	7.37:g.126746588C>T	ENSP00000344173:p.Ser230Asn	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.S230N|GRM8_ENST00000444921.2_Missense_Mutation_p.S230N|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.S230N	p.S230N			O00222	GRM8_HUMAN			3	1497	-		Prostate(267;0.186)	230					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.689G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709809	0.89018	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830;ENST00000465844	D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	4.97	4.97	0.65823	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.66439	2.03	0.58432	D	0.999996	P;B	0.50528	0.936;0.392	P;B	0.47673	0.554;0.173	D	0.86750	0.1960	10	0.52906	T	0.07	.	17.2524	0.87046	0.0:1.0:0.0:0.0	.	230;230	O00222-2;O00222	.;GRM8_HUMAN	N	230;230;230;230;230;40	ENSP00000344173:S230N;ENSP00000409790:S230N;ENSP00000351142:S230N;ENSP00000385731:S230N;ENSP00000415522:S230N;ENSP00000418255:S40N	ENSP00000344173:S230N	S	-	2	0	GRM8	126533824	1.000000	0.71417	0.997000	0.53966	0.937000	0.57800	7.818000	0.86416	2.298000	0.77334	0.563000	0.77884	AGC		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			10	35	0	0	0	0.006214	0	10	35				
GOLGA2P5	55592	broad.mit.edu	37	12	100551063	100551063	+	RNA	SNP	G	G	A	rs562042658		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:100551063G>A	ENST00000397112.4	-	0	1893				AC010203.1_ENST00000408843.1_RNA|RN7SL176P_ENST00000580352.1_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGACGCTGGGGCCCCTCTGA	0.607													G|||	1	0.000199681	0.0	0.0	5008	,	,		13626	0.0		0.0	False		,,,				2504	0.001					ENST00000397112.4																			0				large_intestine(1)|lung(3)	4															95.0	91.0	93.0					12																	100551063		2203	4300	6503			55592							g.chr12:100551063G>A																													12.37:g.100551063G>A						AC010203.1_ENST00000408843.1_RNA		NR_036632.1						0	1893	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.607	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			17	62	0	0	0	0.004990	0	17	62				
LCLAT1	253558	broad.mit.edu	37	2	30790956	30790956	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:30790956C>T	ENST00000309052.4	+	6	865	c.656C>T	c.(655-657)gCt>gTt	p.A219V	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181V|LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219V|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	219					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						AATGCATTTGCTGAAAAAAAT	0.338																																						ENST00000309052.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						c.(655-657)gCt>gTt		lysocardiolipin acyltransferase 1							63.0	67.0	66.0					2																	30790956		2202	4298	6500	SO:0001583	missense	253558				multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:30790956C>T	AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.656C>T	2.37:g.30790956C>T	ENSP00000310551:p.Ala219Val					LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219V|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181V|LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181V	p.A219V	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN			6	865	+			219					A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	c.656C>T	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779238	0.90195	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000319406;ENST00000309052;ENST00000359433;ENST00000540623;ENST00000476038	D;T;D;T;D;T	0.93307	-3.2;0.18;-3.2;0.18;-3.2;0.54	5.51	5.51	0.81932	Phospholipid/glycerol acyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98166	1.0449	10	0.87932	D	0	-17.2013	19.7747	0.96386	0.0:1.0:0.0:0.0	.	219;219	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	V	181;181;219;219;219;181;132	ENSP00000368823:A181V;ENSP00000368826:A219V;ENSP00000310551:A219V;ENSP00000352406:A219V;ENSP00000442857:A181V;ENSP00000419646:A132V	ENSP00000310551:A219V	A	+	2	0	LCLAT1	30644460	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	6.564000	0.73969	2.750000	0.94351	0.585000	0.79938	GCT		0.338	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1	NM_182551		10	54	0	0	0	0.006214	0	10	54				
ERICH3	127254	broad.mit.edu	37	1	75072553	75072553	+	Silent	SNP	C	C	T	rs539368276		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:75072553C>T	ENST00000326665.5	-	10	1439	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	C1orf173_ENST00000420661.2_Silent_p.P210P|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		407										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCGGCAAAGACGGTTTTTTGT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		16230	0.0		0.0	False		,,,				2504	0.001					ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1219-1221)ccG>ccA		chromosome 1 open reading frame 173							111.0	107.0	108.0					1																	75072553		2203	4299	6502	SO:0001819	synonymous_variant	127254							g.chr1:75072553C>T																												ENST00000326665.5:c.1221G>A	1.37:g.75072553C>T						C1orf173_ENST00000420661.2_Silent_p.P210P|RP4-612J11.1_ENST00000416017.1_RNA	p.P407P	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1439	-			407					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.1221G>A	CCDS30755.1																																																																																				0.418	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			23	115	0	0	0	0.003954	0	23	115				
PELP1	27043	broad.mit.edu	37	17	4607440	4607440	+	5'Flank	SNP	T	T	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:4607440T>C	ENST00000574876.1	-	0	0				RP11-314A20.2_ENST00000497885.1_RNA|PELP1_ENST00000301396.4_5'UTR|PELP1_ENST00000269230.7_5'UTR|PELP1_ENST00000572293.1_Silent_p.S39S|PELP1_ENST00000570823.1_5'Flank|PELP1_ENST00000436683.2_5'Flank			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1						cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGTGGCGCGATGACGCAAACA	0.726																																						ENST00000572293.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						c.(115-117)tcA>tcG		proline, glutamate and leucine rich protein 1							5.0	7.0	7.0					17																	4607440		1859	3901	5760	SO:0001631	upstream_gene_variant	27043				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding	g.chr17:4607440T>C		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8			17.37:g.4607440T>C	Exception_encountered					PELP1_ENST00000301396.4_5'UTR|PELP1_ENST00000269230.7_5'UTR	p.S39S	NM_014389.2	NP_055204.3	Q8IZL8	PELP1_HUMAN			1	180	-			662					O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	c.117A>G	CCDS58503.1																																																																																				0.726	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389		4	11	0	0	0	0.009096	0	4	11				
MAOA	4128	broad.mit.edu	37	X	43590580	43590580	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:43590580C>T	ENST00000338702.3	+	7	861	c.738C>T	c.(736-738)caC>caT	p.H246H	MAOA_ENST00000542639.1_Silent_p.H113H|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	246					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CTGTCACTCACGTTGACCAGT	0.453																																						ENST00000338702.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(736-738)caC>caT		monoamine oxidase A	Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)						130.0	87.0	102.0					X																	43590580		2203	4300	6503	SO:0001819	synonymous_variant	4128				behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding	g.chrX:43590580C>T		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.738C>T	X.37:g.43590580C>T						MAOA_ENST00000542639.1_Silent_p.H113H|MAOA_ENST00000497485.1_3'UTR	p.H246H	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN			7	861	+			246					B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	c.738C>T	CCDS14260.1																																																																																				0.453	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240		22	14	0	0	0	0.014323	0	22	14				
PER1	5187	broad.mit.edu	37	17	8047139	8047139	+	Silent	SNP	G	G	A	rs537459588	byFrequency	TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:8047139G>A	ENST00000317276.4	-	19	2754	c.2517C>T	c.(2515-2517)gcC>gcT	p.A839A	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Silent_p.A816A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	839					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GTGAGCGCTTGGCTTTGGATC	0.672			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														ENST00000317276.4				Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		"""AML, CMML"""		0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2515-2517)gcC>gcT	Other conserved DNA damage response genes	period circadian clock 1							44.0	52.0	49.0					17																	8047139		2203	4300	6503	SO:0001819	synonymous_variant	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8047139G>A	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2517C>T	17.37:g.8047139G>A						PER1_ENST00000581082.1_Silent_p.A816A|PER1_ENST00000578089.1_5'UTR	p.A839A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN			19	2754	-			839					B2RPA8|B4DI49|D3DTR3	Silent	SNP	ENST00000317276.4	37	c.2517C>T	CCDS11131.1																																																																																				0.672	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			16	35	0	0	0	0.012319	0	16	35				
ZNF767P	79970	broad.mit.edu	37	7	149255890	149255890	+	RNA	SNP	G	G	C	rs377475151		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:149255890G>C	ENST00000463567.1	-	0	640					NR_027788.1		Q75MW2	ZN767_HUMAN												central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			gtgacaactcgcataagttac	0.488																																						ENST00000463567.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5								zinc finger family member 767							124.0	103.0	110.0					7																	149255890		2203	4300	6503			79970							g.chr7:149255890G>C																													7.37:g.149255890G>C								NR_027788.1				OV - Ovarian serous cystadenocarcinoma(82;0.00434)		0	640	-	Melanoma(164;0.165)|Ovarian(565;0.177)							D3DWG6|Q86WY4|Q9H9J3	RNA	SNP	ENST00000463567.1	37																																																																																						0.488	ZNF767-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352753.2			8	53	0	0	0	0.006214	0	8	53				
GAL3ST1	9514	broad.mit.edu	37	22	30951241	30951241	+	Missense_Mutation	SNP	C	C	A	rs375449237		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr22:30951241C>A	ENST00000402321.1	-	3	1288	c.971G>T	c.(970-972)cGg>cTg	p.R324L	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R324L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R324L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	324					galactosylceramide biosynthetic process (GO:0006682)|glycosphingolipid metabolic process (GO:0006687)|myelination (GO:0042552)|protein N-linked glycosylation (GO:0006487)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATGCGCTCCCGCCCGAAGGC	0.711																																						ENST00000402321.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(970-972)cGg>cTg		galactose-3-O-sulfotransferase 1							16.0	18.0	17.0					22																	30951241		2193	4266	6459	SO:0001583	missense	9514				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	g.chr22:30951241C>A	D88667	CCDS13879.1	22q12.2	2007-04-02			ENSG00000128242	ENSG00000128242		"""Sulfotransferases, membrane-bound"""	24240	protein-coding gene	gene with protein product	"""cerebroside (3' phosphoadenylylsulfate:galactosylceramide 3') sulfotransferase"""	602300				9847074, 9030544	Standard	NM_004861		Approved	CST	uc003aii.1	Q99999	OTTHUMG00000151200	ENST00000402321.1:c.971G>T	22.37:g.30951241C>A	ENSP00000385735:p.Arg324Leu					GAL3ST1_ENST00000338911.5_Missense_Mutation_p.R324L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.R324L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.R324L	p.R324L			Q99999	G3ST1_HUMAN			3	1288	-			324					Q96C63	Missense_Mutation	SNP	ENST00000402321.1	37	c.971G>T	CCDS13879.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.428759	0.43122	.	.	ENSG00000128242	ENST00000406955;ENST00000402321;ENST00000402369;ENST00000401975;ENST00000338911;ENST00000406361;ENST00000443111	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	5.55	3.45	0.39498	.	0.348443	0.31531	N	0.007485	T	0.22044	0.0531	L	0.55017	1.72	0.20703	N	0.999868	P	0.49862	0.929	P	0.46172	0.506	T	0.07009	-1.0795	10	0.28530	T	0.3	-27.2428	14.8627	0.70392	0.0:0.8666:0.0:0.1334	.	324	Q99999	G3ST1_HUMAN	L	324	ENSP00000385825:R324L;ENSP00000385735:R324L;ENSP00000384122:R324L;ENSP00000384388:R324L;ENSP00000343234:R324L;ENSP00000385207:R324L;ENSP00000402587:R324L	ENSP00000343234:R324L	R	-	2	0	GAL3ST1	29281241	0.000000	0.05858	0.577000	0.28562	0.964000	0.63967	0.400000	0.20932	0.312000	0.23038	-1.134000	0.01955	CGG		0.711	GAL3ST1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321745.1	NM_004861		5	10	1	0	3.59834e-05	0.001168	4.05286e-05	5	10				
BAGE2	85319	broad.mit.edu	37	21	11039224	11039224	+	RNA	SNP	T	T	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr21:11039224T>C	ENST00000470054.1	-	0	979							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGATTCTTCTTTGGATACCA	0.423																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039224T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039224T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	979	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.423	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		11	246	0	0	0	0.008291	0	11	246				
ARFGEF2	10564	broad.mit.edu	37	20	47591350	47591350	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:47591350C>T	ENST00000371917.4	+	13	1713	c.1713C>T	c.(1711-1713)ctC>ctT	p.L571L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	571					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TGTCCATTCTCAAGTGCATGG	0.507																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	ENST00000371917.4																			0				breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63						c.(1711-1713)ctC>ctT		ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)							110.0	95.0	100.0					20																	47591350		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47591350C>T	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1713C>T	20.37:g.47591350C>T							p.L571L	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		13	1713	+			571					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.1713C>T	CCDS13411.1																																																																																				0.507	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		8	17	0	0	0	0.013537	0	8	17				
GPR22	2845	broad.mit.edu	37	7	107114861	107114861	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr7:107114861A>G	ENST00000304402.4	+	3	1699	c.356A>G	c.(355-357)gAg>gGg	p.E119G	COG5_ENST00000393603.2_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	119					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TGTTTCCATGAGGCTTGTGTA	0.388																																						ENST00000304402.4																			0				large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						c.(355-357)gAg>gGg		G protein-coupled receptor 22							116.0	113.0	114.0					7																	107114861		2203	4298	6501	SO:0001583	missense	2845					integral to plasma membrane	G-protein coupled receptor activity	g.chr7:107114861A>G	U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.356A>G	7.37:g.107114861A>G	ENSP00000302676:p.Glu119Gly					COG5_ENST00000347053.3_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000393603.2_Intron	p.E119G	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN			3	1699	+			119					O14554	Missense_Mutation	SNP	ENST00000304402.4	37	c.356A>G	CCDS5744.1	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536725	0.65085	.	.	ENSG00000172209	ENST00000304402	T	0.33865	1.39	5.39	5.39	0.77823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55737	0.1939	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.57219	-0.7849	10	0.59425	D	0.04	-5.9915	15.6948	0.77488	1.0:0.0:0.0:0.0	.	119	Q99680	GPR22_HUMAN	G	119	ENSP00000302676:E119G	ENSP00000302676:E119G	E	+	2	0	GPR22	106902097	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.283000	0.95860	2.156000	0.67533	0.528000	0.53228	GAG		0.388	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337598.1			28	81	0	0	0	0.007291	0	28	81				
ATF1	466	broad.mit.edu	37	12	51173954	51173954	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:51173954C>T	ENST00000262053.3	+	2	48	c.26C>T	c.(25-27)aCg>aTg	p.T9M	ATF1_ENST00000539132.1_5'UTR	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	9					cellular protein complex assembly (GO:0043623)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to cobalt ion (GO:0032025)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4					Pseudoephedrine(DB00852)	AAGAGTACCACGTCAGAGACA	0.408			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """																																	ENST00000262053.3				Dom	yes		12	12q13	466	T	activating transcription factor 1			"""E, M"""	"""EWSR1, FUS"""		"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """	EWSR1/ATF1(347)|FUS/ATF1(4)	0				breast(1)|large_intestine(1)|ovary(2)	4						c.(25-27)aCg>aTg		activating transcription factor 1							124.0	128.0	127.0					12																	51173954		2203	4300	6503	SO:0001583	missense	466				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway			g.chr12:51173954C>T	BC029619	CCDS8803.1	12q13	2014-05-13			ENSG00000123268	ENSG00000123268		"""basic leucine zipper proteins"""	783	protein-coding gene	gene with protein product		123803				8401579	Standard	NM_005171		Approved	TREB36	uc001rww.4	P18846		ENST00000262053.3:c.26C>T	12.37:g.51173954C>T	ENSP00000262053:p.Thr9Met					ATF1_ENST00000539132.1_5'UTR	p.T9M	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN			2	48	+			9					B4DRF9|P25168|Q9H4A8	Missense_Mutation	SNP	ENST00000262053.3	37	c.26C>T	CCDS8803.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615634	0.46631	.	.	ENSG00000123268	ENST00000552510;ENST00000262053;ENST00000552487	T;T;T	0.77877	-1.13;0.45;0.44	5.56	3.64	0.41730	.	0.508177	0.20986	N	0.082133	T	0.55800	0.1943	N	0.08118	0	0.80722	D	1	B	0.30870	0.298	B	0.28465	0.09	T	0.60125	-0.7324	10	0.66056	D	0.02	1.8656	8.1079	0.30896	0.1767:0.6528:0.1705:0.0	.	9	P18846	ATF1_HUMAN	M	9	ENSP00000448592:T9M;ENSP00000262053:T9M;ENSP00000448921:T9M	ENSP00000262053:T9M	T	+	2	0	ATF1	49460221	0.992000	0.36948	1.000000	0.80357	0.821000	0.46438	0.489000	0.22387	2.790000	0.95986	0.655000	0.94253	ACG		0.408	ATF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404285.1	NM_005171		68	177	0	0	0	0.014410	0	68	177				
ATP2A2	488	broad.mit.edu	37	12	110783837	110783837	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:110783837C>T	ENST00000539276.2	+	19	2882	c.2773C>T	c.(2773-2775)Ccc>Tcc	p.P925S	ATP2A2_ENST00000395494.2_Missense_Mutation_p.P898S|ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	925					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAGGATGCCCCCCTGGGA	0.577																																						ENST00000395494.2																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						c.(2692-2694)Ccc>Tcc		ATPase, Ca++ transporting, cardiac muscle, slow twitch 2							172.0	139.0	150.0					12																	110783837		2203	4300	6503	SO:0001583	missense	488				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	g.chr12:110783837C>T		CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2773C>T	12.37:g.110783837C>T	ENSP00000440045:p.Pro925Ser					ATP2A2_ENST00000308664.6_Missense_Mutation_p.P925S|ATP2A2_ENST00000539276.2_Missense_Mutation_p.P925S	p.P898S			P16615	AT2A2_HUMAN			18	3255	+			925					A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	ENST00000539276.2	37	c.2692C>T	CCDS9144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.214102|4.214102	0.79352|0.79352	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000548169|ENST00000308664;ENST00000395494;ENST00000539276	.|D;D;D	.|0.88046	.|-2.33;-2.33;-2.33	6.17|6.17	6.17|6.17	0.99709|0.99709	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91905|0.91905	0.7437|0.7437	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|P;B;P	.|0.39748	.|0.686;0.296;0.6	.|P;B;B	.|0.44811	.|0.461;0.097;0.375	D|D	0.91551|0.91551	0.5257|0.5257	5|10	.|0.59425	.|D	.|0.04	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|898;925;925	.|P16615-4;P16615-2;P16615	.|.;.;AT2A2_HUMAN	V|S	815|925;898;925	.|ENSP00000311186:P925S;ENSP00000378872:P898S;ENSP00000440045:P925S	.|ENSP00000311186:P925S	A|P	+|+	2|1	0|0	ATP2A2|ATP2A2	109268220|109268220	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|CCC		0.577	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1	NM_001681		4	83	0	0	0	0.009096	0	4	83				
OR5AK2	390181	broad.mit.edu	37	11	56756943	56756943	+	Silent	SNP	T	T	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:56756943T>G	ENST00000326855.2	+	1	597	c.555T>G	c.(553-555)ctT>ctG	p.L185L		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						CCCCTATTCTTGCTCTTTCAT	0.403																																						ENST00000326855.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(553-555)ctT>ctG		olfactory receptor, family 5, subfamily AK, member 2							348.0	310.0	323.0					11																	56756943		2201	4296	6497	SO:0001819	synonymous_variant	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756943T>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.555T>G	11.37:g.56756943T>G							p.L185L	NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN			1	597	+			185					B2RNZ9	Silent	SNP	ENST00000326855.2	37	c.555T>G	CCDS31538.1																																																																																				0.403	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323		48	221	0	0	0	0.014410	0	48	221				
FOXB1	27023	broad.mit.edu	37	15	60297484	60297484	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr15:60297484C>A	ENST00000396057.4	+	2	801	c.322C>A	c.(322-324)Cgc>Agc	p.R108S	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	108					axon target recognition (GO:0007412)|cell migration in diencephalon (GO:0061381)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|floor plate development (GO:0033504)|hypothalamus cell migration (GO:0021855)|inferior colliculus development (GO:0061379)|lactation (GO:0007595)|mammary gland lobule development (GO:0061377)|mammillary body development (GO:0021767)|mammillothalamic axonal tract development (GO:0061374)|midbrain development (GO:0030901)|negative regulation of neuron apoptotic process (GO:0043524)|somitogenesis (GO:0001756)|spinal cord development (GO:0021510)|telencephalon cell migration (GO:0022029)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|visual learning (GO:0008542)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCGCCGCAAGCGCTTCAAGGT	0.706																																						ENST00000396057.4																			0				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						c.(322-324)Cgc>Agc		forkhead box B1							21.0	24.0	23.0					15																	60297484		2203	4297	6500	SO:0001583	missense	27023				axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr15:60297484C>A	AF055080	CCDS32255.1	15q22.2	2014-09-09			ENSG00000171956	ENSG00000171956		"""Forkhead boxes"""	3799	protein-coding gene	gene with protein product							Standard	NM_012182		Approved	HFKH-5, FKH5	uc002agj.1	Q99853	OTTHUMG00000172011	ENST00000396057.4:c.322C>A	15.37:g.60297484C>A	ENSP00000379369:p.Arg108Ser					FOXB1_ENST00000560857.1_Intron	p.R108S	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN			2	801	+			108					O60652|O75917|Q14CL2	Missense_Mutation	SNP	ENST00000396057.4	37	c.322C>A	CCDS32255.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732657	0.69189	.	.	ENSG00000171956	ENST00000396057	D	0.95853	-3.83	3.72	3.72	0.42706	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (1);	0.000000	0.64402	U	0.000002	D	0.97723	0.9253	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97850	1.0274	10	0.87932	D	0	.	9.7721	0.40595	0.2064:0.7936:0.0:0.0	.	108	Q99853	FOXB1_HUMAN	S	108	ENSP00000379369:R108S	ENSP00000379369:R108S	R	+	1	0	FOXB1	58084776	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.678000	0.54627	1.876000	0.54355	0.650000	0.86243	CGC		0.706	FOXB1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416378.1			10	17	1	0	6.40141e-05	0.010729	7.13491e-05	10	17				
MC5R	4161	broad.mit.edu	37	18	13826449	13826449	+	Silent	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr18:13826449C>A	ENST00000324750.3	+	1	907	c.685C>A	c.(685-687)Cgg>Agg	p.R229R	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	229				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1). {ECO:0000305}.	G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)	p.R229W(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CAGCTCTGCGCGGCAGAGGAC	0.617																																						ENST00000324750.3																			1	Substitution - Missense(1)	p.R229W(1)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(685-687)Cgg>Agg		melanocortin 5 receptor							210.0	180.0	190.0					18																	13826449		2203	4300	6503	SO:0001819	synonymous_variant	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826449C>A	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.685C>A	18.37:g.13826449C>A							p.R229R	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN			1	907	+			229	ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).				B0YJ34|Q502V1	Silent	SNP	ENST00000324750.3	37	c.685C>A	CCDS11868.1																																																																																				0.617	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913		35	137	1	0	3.03874e-20	0.003271	3.87078e-20	35	137				
RXFP2	122042	broad.mit.edu	37	13	32371542	32371542	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:32371542G>A	ENST00000298386.2	+	17	2062	c.1991G>A	c.(1990-1992)cGg>cAg	p.R664Q	RXFP2_ENST00000380314.1_Missense_Mutation_p.R640Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	664					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCCCTCTTCCGGGTGGAAATA	0.423																																						ENST00000298386.2																			0				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33						c.(1990-1992)cGg>cAg		relaxin/insulin-like family peptide receptor 2							141.0	138.0	139.0					13																	32371542		2203	4300	6503	SO:0001583	missense	122042					integral to membrane|plasma membrane		g.chr13:32371542G>A	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.1991G>A	13.37:g.32371542G>A	ENSP00000298386:p.Arg664Gln					RXFP2_ENST00000380314.1_Missense_Mutation_p.R640Q	p.R664Q	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)	17	2062	+		Lung SC(185;0.0262)	664					B1ALE9|Q3KU23	Missense_Mutation	SNP	ENST00000298386.2	37	c.1991G>A	CCDS9342.1	.	.	.	.	.	.	.	.	.	.	G	2.562	-0.301660	0.05495	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	T;T	0.71934	-0.61;-0.61	5.66	-0.834	0.10779	GPCR, rhodopsin-like superfamily (1);	0.515918	0.22556	N	0.058531	T	0.34483	0.0899	N	0.01493	-0.835	0.19300	N	0.999976	B;B	0.12013	0.005;0.005	B;B	0.12156	0.007;0.007	T	0.32322	-0.9911	10	0.15499	T	0.54	.	7.3577	0.26729	0.4991:0.1162:0.3847:0.0	.	640;664	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	Q	640;664	ENSP00000369670:R640Q;ENSP00000298386:R664Q	ENSP00000298386:R664Q	R	+	2	0	RXFP2	31269542	0.001000	0.12720	0.087000	0.20705	0.971000	0.66376	0.593000	0.23999	0.025000	0.15241	-0.136000	0.14681	CGG		0.423	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044399.1	NM_130806		3	88	0	0	0	0.004672	0	3	88				
KRT31	3881	broad.mit.edu	37	17	39551520	39551520	+	Missense_Mutation	SNP	C	C	G	rs528644388		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:39551520C>G	ENST00000251645.2	-	5	905	c.853G>C	c.(853-855)Gag>Cag	p.E285Q		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	285	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCCTGCAGCTCGATCTCCAGG	0.607																																						ENST00000251645.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(853-855)Gag>Cag		keratin 31							75.0	71.0	72.0					17																	39551520		2203	4297	6500	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551520C>G	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.853G>C	17.37:g.39551520C>G	ENSP00000251645:p.Glu285Gln						p.E285Q	NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN			5	905	-		Breast(137;0.000496)	285			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.853G>C	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	c	23.9	4.466156	0.84425	.	.	ENSG00000094796	ENST00000251645	D	0.91843	-2.92	5.51	5.51	0.81932	Filament (1);	0.000000	0.64402	D	0.000003	D	0.96710	0.8926	M	0.88181	2.935	0.40901	D	0.984159	D	0.76494	0.999	D	0.74023	0.982	D	0.97587	1.0114	10	0.87932	D	0	.	18.4689	0.90766	0.0:1.0:0.0:0.0	.	285	Q15323	K1H1_HUMAN	Q	285	ENSP00000251645:E285Q	ENSP00000251645:E285Q	E	-	1	0	KRT31	36805046	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.553000	0.67287	2.600000	0.87896	0.558000	0.71614	GAG		0.607	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		14	64	0	0	0	0.003163	0	14	64				
ERBB4	2066	broad.mit.edu	37	2	212426697	212426697	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:212426697C>G	ENST00000342788.4	-	20	2728	c.2418G>C	c.(2416-2418)gaG>gaC	p.E806D	ERBB4_ENST00000402597.1_Missense_Mutation_p.E796D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E806D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	806	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CGTGGACATACTCCAACAGGC	0.483										TSP Lung(8;0.080)																												ENST00000342788.4																			0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(2416-2418)gaG>gaC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							153.0	132.0	139.0					2																	212426697		2203	4300	6503	SO:0001583	missense	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212426697C>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2418G>C	2.37:g.212426697C>G	ENSP00000342235:p.Glu806Asp	TSP Lung(8;0.080)				ERBB4_ENST00000402597.1_Missense_Mutation_p.E796D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E806D	p.E806D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	20	2728	-		Renal(323;0.06)|Lung NSC(271;0.197)	806			Protein kinase.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.2418G>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	C	0.777	-0.763818	0.02996	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.60171	0.21;0.21;0.21	4.98	-2.03	0.07365	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.137888	0.64402	N	0.000005	T	0.20047	0.0482	N	0.04297	-0.235	0.29395	N	0.862353	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22765	-1.0207	10	0.02654	T	1	.	1.6314	0.02733	0.3498:0.2567:0.277:0.1166	.	796;796;806;806	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	806;806;796	ENSP00000342235:E806D;ENSP00000403204:E806D;ENSP00000385565:E796D	ENSP00000342235:E806D	E	-	3	2	ERBB4	212134942	1.000000	0.71417	0.903000	0.35520	0.655000	0.38815	0.937000	0.28951	-0.548000	0.06199	-1.028000	0.02416	GAG		0.483	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		27	107	0	0	0	0.010818	0	27	107				
KIAA1549L	25758	broad.mit.edu	37	11	33564673	33564673	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:33564673G>C	ENST00000321505.4	+	1	853	c.673G>C	c.(673-675)Gaa>Caa	p.E225Q	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E225Q|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E225Q			Q6ZVL6	K154L_HUMAN	KIAA1549-like	225						integral component of membrane (GO:0016021)											TCCTGTGCCAGAAATGCCCAC	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000321505.4																			0											c.(673-675)Gaa>Caa		KIAA1549-like							83.0	82.0	82.0					11																	33564673		1950	4147	6097	SO:0001583	missense	25758							g.chr11:33564673G>C	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.673G>C	11.37:g.33564673G>C	ENSP00000315295:p.Glu225Gln		OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.E225Q|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E225Q	p.E225Q							1	853	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.673G>C	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	G	6.617	0.482163	0.12581	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.38	-5.26	0.02772	.	2.425600	0.01565	N	0.020325	T	0.14830	0.0358	N	0.04880	-0.145	0.09310	N	1	B;B	0.16802	0.002;0.019	B;B	0.12156	0.001;0.007	T	0.11767	-1.0574	9	0.13853	T	0.58	3.571	4.2743	0.10800	0.1517:0.5238:0.2061:0.1185	.	225;225	E9PAT2;Q6ZVL6-2	.;.	Q	225;225;225;65	.	ENSP00000265654:E225Q	E	+	1	0	C11orf41	33521249	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.504000	0.06375	-0.879000	0.04002	0.455000	0.32223	GAA		0.537	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		16	74	0	0	0	0.004990	0	16	74				
VPS52	6293	broad.mit.edu	37	6	33234453	33234453	+	Missense_Mutation	SNP	C	C	T	rs146611103		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:33234453C>T	ENST00000445902.2	-	12	1380	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.A263T|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	388					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTAGGAGGGCGTAGTGCTGG	0.522																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1162-1164)Gcc>Acc		vacuolar protein sorting 52 homolog (S. cerevisiae)		C	THR/ALA	0,3022		0,0,1511	62.0	65.0	64.0		1162	4.7	1.0	6	dbSNP_134	64	1,5417		0,1,2708	no	missense	VPS52	NM_022553.4	58	0,1,4219	TT,TC,CC		0.0185,0.0,0.0118	probably-damaging	388/724	33234453	1,8439	1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33234453C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1162G>A	6.37:g.33234453C>T	ENSP00000409952:p.Ala388Thr					VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.A263T|VPS52_ENST00000482399.1_3'UTR	p.A388T	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			12	1380	-			388					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1162G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	32	5.117110	0.94385	0.0	1.85E-4	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.71656	-0.4527	9	0.17832	T	0.49	-13.6476	15.4605	0.75353	0.0:1.0:0.0:0.0	.	199;388	B3KMF7;Q8N1B4	.;VPS52_HUMAN	T	388;366;263	.	ENSP00000414785:A366T	A	-	1	0	VPS52	33342431	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.290000	0.72712	2.592000	0.87571	0.544000	0.68410	GCC		0.522	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		7	51	0	0	0	0.001984	0	7	51				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	48	0	0	0	0.001855	0	12	48				
HELZ	9931	broad.mit.edu	37	17	65174905	65174905	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:65174905T>C	ENST00000358691.5	-	13	1466	c.1300A>G	c.(1300-1302)Att>Gtt	p.I434V	HELZ_ENST00000580168.1_Missense_Mutation_p.I434V	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	434						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAGAGGGGAATTTGGTATCTG	0.383																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1300-1302)Att>Gtt		helicase with zinc finger							157.0	150.0	152.0					17																	65174905		1836	4105	5941	SO:0001583	missense	9931							g.chr17:65174905T>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1300A>G	17.37:g.65174905T>C	ENSP00000351524:p.Ile434Val					HELZ_ENST00000580168.1_Missense_Mutation_p.I434V	p.I434V	NM_014877.3	NP_055692.2					13	1466	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.1300A>G	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	T	14.91	2.677799	0.47886	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.82893	-1.66;1.53	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.75354	0.3838	L	0.34521	1.04	0.80722	D	1	P;B	0.37158	0.585;0.047	B;B	0.33799	0.17;0.024	T	0.74067	-0.3784	10	0.28530	T	0.3	-19.2541	16.635	0.85050	0.0:0.0:0.0:1.0	.	434;434	B7ZLW2;P42694	.;HELZ_HUMAN	V	434	ENSP00000351524:I434V;ENSP00000411144:I434V	ENSP00000351524:I434V	I	-	1	0	HELZ	62605367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.618000	0.83043	2.330000	0.79161	0.477000	0.44152	ATT		0.383	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		5	102	0	0	0	0.001168	0	5	102				
BCORL1	63035	broad.mit.edu	37	X	129147297	129147297	+	Silent	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:129147297C>A	ENST00000218147.7	+	4	746	c.549C>A	c.(547-549)gtC>gtA	p.V183V	BCORL1_ENST00000303743.5_Silent_p.V183V|BCORL1_ENST00000359304.2_Silent_p.V183V|BCORL1_ENST00000540052.1_Silent_p.V183V			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	183					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GAACTGGAGTCCCTGTGGAGG	0.577																																						ENST00000540052.1																			0				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(547-549)gtC>gtA		BCL6 corepressor-like 1							101.0	97.0	98.0					X																	129147297		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147297C>A	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.549C>A	X.37:g.129147297C>A						BCORL1_ENST00000359304.2_Silent_p.V183V|BCORL1_ENST00000218147.7_Silent_p.V183V|BCORL1_ENST00000303743.5_Silent_p.V183V	p.V183V	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN			3	593	+			183					B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.549C>A	CCDS14616.1																																																																																				0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		9	30	1	0	0.000978159	0.010729	0.001079	9	30				
DDX58	23586	broad.mit.edu	37	9	32488812	32488812	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr9:32488812C>T	ENST00000379883.2	-	7	1030	c.873G>A	c.(871-873)ggG>ggA	p.G291G	DDX58_ENST00000379868.1_Silent_p.G88G|DDX58_ENST00000542096.1_Silent_p.G220G|DDX58_ENST00000379882.1_Silent_p.G246G|DDX58_ENST00000545044.1_Silent_p.G88G	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	291	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		AGACAACTTTCCCCTTTTGTC	0.338																																						ENST00000379882.1																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(736-738)ggG>ggA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							85.0	77.0	80.0					9																	32488812		2203	4300	6503	SO:0001819	synonymous_variant	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488812C>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.873G>A	9.37:g.32488812C>T						DDX58_ENST00000379883.2_Silent_p.G291G|DDX58_ENST00000542096.1_Silent_p.G220G|DDX58_ENST00000545044.1_Silent_p.G88G|DDX58_ENST00000379868.1_Silent_p.G88G	p.G246G			O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	6	895	-			291					A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Silent	SNP	ENST00000379883.2	37	c.738G>A	CCDS6526.1																																																																																				0.338	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		10	29	0	0	0	0.006214	0	10	29				
DUSP22	56940	broad.mit.edu	37	6	348863	348863	+	Intron	SNP	G	G	T	rs369059027		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:348863G>T	ENST00000344450.5	+	7	951				DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000603453.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605315.1_Missense_Mutation_p.R74L|DUSP22_ENST00000419235.2_Missense_Mutation_p.R177L|DUSP22_ENST00000604971.1_Missense_Mutation_p.R74L	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22						apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GAGCAAGGGCGCACAGAGCCC	0.552																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(220-222)cGc>cTc		dual specificity phosphatase 22							61.0	59.0	60.0					6																	348863		2203	4300	6503	SO:0001627	intron_variant	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348863G>T	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.508+22G>T	6.37:g.348863G>T						DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000419235.2_Missense_Mutation_p.R177L|DUSP22_ENST00000603453.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605315.1_Missense_Mutation_p.R74L|DUSP22_ENST00000605035.1_3'UTR	p.R74L			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	1334	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	0			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.221G>T	CCDS4468.1																																																																																				0.552	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		3	31	1	0	0.004672	0.004672	0.00510106	3	31				
TAS2R1	50834	broad.mit.edu	37	5	9629960	9629960	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr5:9629960A>G	ENST00000382492.2	-	1	503	c.185T>C	c.(184-186)aTc>aCc	p.I62T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	62					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AACGTAGAAGATGAACAACTG	0.368																																						ENST00000382492.2																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(184-186)aTc>aCc		taste receptor, type 2, member 1							43.0	46.0	45.0					5																	9629960		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629960A>G	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.185T>C	5.37:g.9629960A>G	ENSP00000371932:p.Ile62Thr					CTD-2001E22.1_ENST00000504182.2_RNA	p.I62T	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN			1	503	-			62					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.185T>C	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	A	16.08	3.021905	0.54576	.	.	ENSG00000169777	ENST00000382492	T	0.00949	5.51	5.32	4.14	0.48551	.	0.704916	0.13313	N	0.397324	T	0.03915	0.0110	M	0.73372	2.23	0.09310	N	1	D	0.62365	0.991	P	0.62491	0.903	T	0.35822	-0.9773	9	.	.	.	.	9.7925	0.40715	0.846:0.0:0.0:0.154	.	62	Q9NYW7	TA2R1_HUMAN	T	62	ENSP00000371932:I62T	.	I	-	2	0	TAS2R1	9682960	0.417000	0.25432	0.014000	0.15608	0.007000	0.05969	1.982000	0.40638	1.013000	0.39391	0.533000	0.62120	ATC		0.368	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			22	28	0	0	0	0.003330	0	22	28				
PICALM	8301	broad.mit.edu	37	11	85779753	85779753	+	Missense_Mutation	SNP	T	T	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr11:85779753T>G	ENST00000393346.3	-	1	218	c.70A>C	c.(70-72)Aag>Cag	p.K24Q	PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000532317.1_Missense_Mutation_p.K24Q|PICALM_ENST00000526033.1_Missense_Mutation_p.K24Q|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000356360.5_Missense_Mutation_p.K24Q			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	24	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				CATACTGTCTTGGATACGGCA	0.662			T	"""MLLT10, MLL"""	"""TALL, AML, """																																	ENST00000526033.1				Dom	yes		11	11q14	8301	T	phosphatidylinositol binding clathrin assembly protein (CALM)			L	"""MLLT10, MLL"""		"""TALL, AML, """		0				endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(70-72)Aag>Cag		phosphatidylinositol binding clathrin assembly protein							83.0	71.0	75.0					11																	85779753		2203	4299	6502	SO:0001583	missense	8301				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding	g.chr11:85779753T>G	BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.70A>C	11.37:g.85779753T>G	ENSP00000377015:p.Lys24Gln					PICALM_ENST00000532317.1_Missense_Mutation_p.K24Q|PICALM_ENST00000393346.3_Missense_Mutation_p.K24Q|PICALM_ENST00000528411.1_5'UTR|PICALM_ENST00000356360.5_Missense_Mutation_p.K24Q|PICALM_ENST00000528398.1_Intron	p.K24Q	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN			1	386	-		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)	24			ENTH.		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	c.70A>C	CCDS8272.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762781	0.89932	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	4.72	4.72	0.59763	ENTH/VHS (2);ANTH (1);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.40979	0.1139	M	0.87827	2.91	0.80722	D	1	B;B;B	0.19583	0.037;0.008;0.001	B;B;B	0.20577	0.03;0.01;0.005	T	0.38693	-0.9649	9	.	.	.	-14.5997	14.6577	0.68847	0.0:0.0:0.0:1.0	.	24;24;24	F8VPG7;Q13492;Q13492-3	.;PICAL_HUMAN;.	Q	24	ENSP00000436958:K24Q;ENSP00000433846:K24Q;ENSP00000377015:K24Q;ENSP00000348718:K24Q	.	K	-	1	0	PICALM	85457401	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.606000	0.67641	2.118000	0.64928	0.455000	0.32223	AAG		0.662	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166		10	16	0	0	0	0.013537	0	10	16				
TUBGCP6	85378	broad.mit.edu	37	22	50664505	50664505	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr22:50664505T>A	ENST00000248846.5	-	9	1911	c.1807A>T	c.(1807-1809)Aac>Tac	p.N603Y	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_Missense_Mutation_p.N603Y			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	603					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCAGCAGGTTAATGGTCTTT	0.582																																						ENST00000439308.2																			0				breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45						c.(1807-1809)Aac>Tac		tubulin, gamma complex associated protein 6							185.0	186.0	186.0					22																	50664505		2203	4300	6503	SO:0001583	missense	85378				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr22:50664505T>A	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1807A>T	22.37:g.50664505T>A	ENSP00000248846:p.Asn603Tyr					TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.N603Y	p.N603Y	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)	9	2299	-		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	603					Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	ENST00000248846.5	37	c.1807A>T	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301975	0.81136	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.10573	2.86;2.86	4.82	4.82	0.62117	.	0.429352	0.26658	N	0.023163	T	0.30386	0.0763	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02505	-1.1149	10	0.72032	D	0.01	.	14.3688	0.66826	0.0:0.0:0.0:1.0	.	603;603	B2RWN4;Q96RT7	.;GCP6_HUMAN	Y	603	ENSP00000248846:N603Y;ENSP00000397387:N603Y	ENSP00000248846:N603Y	N	-	1	0	TUBGCP6	49006632	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.905000	0.87416	1.812000	0.52913	0.379000	0.24179	AAC		0.582	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461		6	140	0	0	0	0.001168	0	6	140				
SGK3	23678	broad.mit.edu	37	8	67771691	67771691	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:67771691G>C	ENST00000396596.1	+	17	1580	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SGK3_ENST00000520976.1_Missense_Mutation_p.E424Q|SGK3_ENST00000521198.2_Missense_Mutation_p.E456Q|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E456Q|SGK3_ENST00000345714.4_Missense_Mutation_p.E456Q|SGK3_ENST00000522398.1_Missense_Mutation_p.E456Q	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	456	AGC-kinase C-terminal.				ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ATTTACAGAAGAAACAGTTCC	0.363																																						ENST00000396596.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18						c.(1366-1368)Gaa>Caa		serum/glucocorticoid regulated kinase family, member 3							214.0	184.0	194.0					8																	67771691		2203	4300	6503	SO:0001583	missense	23678				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity	g.chr8:67771691G>C		CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.1366G>C	8.37:g.67771691G>C	ENSP00000379842:p.Glu456Gln					C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.E456Q|SGK3_ENST00000521198.2_Missense_Mutation_p.E456Q|SGK3_ENST00000520976.1_Missense_Mutation_p.E424Q|SGK3_ENST00000345714.4_Missense_Mutation_p.E456Q|SGK3_ENST00000522398.1_Missense_Mutation_p.E456Q	p.E456Q	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)		17	1580	+	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	456			AGC-kinase C-terminal.		A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	Missense_Mutation	SNP	ENST00000396596.1	37	c.1366G>C	CCDS6195.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071161	0.76301	.	.	ENSG00000104205	ENST00000519289;ENST00000521198;ENST00000262211;ENST00000522398;ENST00000520976;ENST00000396596;ENST00000345714	T;T;T;T;T;T	0.60171	0.21;0.21;0.21;0.21;0.21;0.21	5.51	5.51	0.81932	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76047	0.3933	M	0.80616	2.505	0.41327	D	0.987213	D;D	0.56287	0.969;0.975	P;P	0.61722	0.828;0.893	T	0.75088	-0.3441	9	0.37606	T	0.19	.	19.4068	0.94651	0.0:0.0:1.0:0.0	.	424;456	Q96BR1-2;Q96BR1	.;SGK3_HUMAN	Q	456;456;456;456;424;456;456	ENSP00000429022:E456Q;ENSP00000430463:E456Q;ENSP00000430256:E456Q;ENSP00000430691:E424Q;ENSP00000379842:E456Q;ENSP00000331816:E456Q	ENSP00000262211:E456Q	E	+	1	0	SGK3	67934245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.466000	0.97665	2.593000	0.87608	0.650000	0.86243	GAA		0.363	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379232.3			36	72	0	0	0	0.003755	0	36	72				
OR12D2	26529	broad.mit.edu	37	6	29365111	29365111	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:29365111C>T	ENST00000383555.2	+	1	696	c.635C>T	c.(634-636)aCa>aTa	p.T212I	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTCTTTCTGACACTTCTCTCC	0.468																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(634-636)aCa>aTa		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							167.0	170.0	169.0					6																	29365111		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365111C>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.635C>T	6.37:g.29365111C>T	ENSP00000373047:p.Thr212Ile					OR5V1_ENST00000377154.1_Intron	p.T212I	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	696	+			212					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.635C>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.928810	0.00493	.	.	ENSG00000168787	ENST00000383555	T	0.00011	9.34	3.94	0.859	0.19036	GPCR, rhodopsin-like superfamily (1);	0.309602	0.27577	N	0.018757	T	0.00012	0.0000	N	0.04116	-0.275	0.09310	N	1	B	0.21753	0.06	B	0.30495	0.116	T	0.52939	-0.8508	10	0.02654	T	1	.	6.6936	0.23187	0.0:0.5391:0.0:0.4609	.	212	P58182	O12D2_HUMAN	I	212	ENSP00000373047:T212I	ENSP00000373047:T212I	T	+	2	0	OR12D2	29473090	0.000000	0.05858	0.005000	0.12908	0.471000	0.32888	0.360000	0.20250	0.333000	0.23563	0.205000	0.17691	ACA		0.468	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			22	147	0	0	0	0.012319	0	22	147				
OR10R2	343406	broad.mit.edu	37	1	158450102	158450102	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:158450102C>T	ENST00000368152.1	+	1	435	c.435C>T	c.(433-435)gcC>gcT	p.A145A	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTATGCTGCCATTTGTCACC	0.488																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(433-435)gcC>gcT		olfactory receptor, family 10, subfamily R, member 2							294.0	256.0	268.0					1																	158450102		2203	4300	6503	SO:0001819	synonymous_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450102C>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.435C>T	1.37:g.158450102C>T						RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	p.A145A	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	435	+	all_hematologic(112;0.0378)		145					Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	ENST00000368152.1	37	c.435C>T	CCDS30898.1																																																																																				0.488	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		45	205	0	0	0	0.014410	0	45	205				
PCNXL2	80003	broad.mit.edu	37	1	233313598	233313598	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:233313598G>T	ENST00000258229.9	-	17	3457	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.L208M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1075						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACTCTGCCAGATTTTGATGT	0.428																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3223-3225)Ctg>Atg		pecanex-like 2 (Drosophila)							68.0	65.0	66.0					1																	233313598		1877	4118	5995	SO:0001583	missense	80003					integral to membrane		g.chr1:233313598G>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3223C>A	1.37:g.233313598G>T	ENSP00000258229:p.Leu1075Met					PCNXL2_ENST00000488780.2_Missense_Mutation_p.L208M	p.L1075M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			17	3457	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1075					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3223C>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012180	0.35511	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.08984	3.03	5.25	3.11	0.35812	.	.	.	.	.	T	0.07638	0.0192	L	0.48642	1.525	0.52099	D	0.999946	B	0.26512	0.151	B	0.32928	0.155	T	0.31251	-0.9950	9	0.34782	T	0.22	.	1.5027	0.02480	0.3371:0.0:0.345:0.3179	.	1075	A6NKB5	PCX2_HUMAN	M	1075;208	ENSP00000258229:L1075M	ENSP00000258229:L1075M	L	-	1	2	PCNXL2	231380221	0.782000	0.28689	0.255000	0.24374	0.342000	0.28953	1.140000	0.31516	0.465000	0.27167	0.467000	0.42956	CTG		0.428	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		4	52	1	0	1.23904e-05	0.000602	1.42556e-05	4	52				
FOXJ2	55810	broad.mit.edu	37	12	8200482	8200482	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:8200482T>A	ENST00000162391.3	+	7	1967	c.822T>A	c.(820-822)ttT>ttA	p.F274L	FOXJ2_ENST00000428177.2_Missense_Mutation_p.F274L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	274					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTGCAGGCTTTTCTTCTCTCC	0.532																																						ENST00000162391.3																			0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(820-822)ttT>ttA		forkhead box J2							53.0	60.0	58.0					12																	8200482		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8200482T>A	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.822T>A	12.37:g.8200482T>A	ENSP00000162391:p.Phe274Leu					FOXJ2_ENST00000428177.2_Missense_Mutation_p.F274L	p.F274L	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	7	1967	+			274					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.822T>A	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567561	0.28003	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.93366	-3.07;-3.21	5.42	-6.89	0.01660	.	2.287390	0.01626	N	0.023279	D	0.93291	0.7862	L	0.31207	0.915	0.33626	D	0.605382	P;D	0.56035	0.924;0.974	P;D	0.70487	0.878;0.969	T	0.82222	-0.0564	10	0.10377	T	0.69	.	16.6086	0.84837	0.0:0.7343:0.0:0.2657	.	274;274	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	L	274	ENSP00000162391:F274L;ENSP00000403411:F274L	ENSP00000162391:F274L	F	+	3	2	FOXJ2	8091749	0.978000	0.34361	0.883000	0.34634	0.889000	0.51656	-0.080000	0.11339	-1.162000	0.02797	0.379000	0.24179	TTT		0.532	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416		18	67	0	0	0	0.008871	0	18	67				
RIC8B	55188	broad.mit.edu	37	12	107254159	107254159	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:107254159G>T	ENST00000392839.2	+	8	1526	c.1420G>T	c.(1420-1422)Gac>Tac	p.D474Y	RIC8B_ENST00000392837.4_Missense_Mutation_p.D474Y|RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.D434Y	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	474					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGAGGACACAGACACTGAAGA	0.438																																						ENST00000392837.4																			0				kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1420-1422)Gac>Tac		RIC8 guanine nucleotide exchange factor B							84.0	81.0	82.0					12																	107254159		2203	4300	6503	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107254159G>T	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1420G>T	12.37:g.107254159G>T	ENSP00000376583:p.Asp474Tyr					RIC8B_ENST00000549643.1_5'UTR|RIC8B_ENST00000355478.2_Missense_Mutation_p.D434Y|RIC8B_ENST00000392839.2_Missense_Mutation_p.D474Y	p.D474Y			Q9NVN3	RIC8B_HUMAN			8	1571	+			474					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1420G>T	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953855	0.92660	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000355478	.	.	.	5.84	5.84	0.93424	Synembryn (1);	0.000000	0.85682	D	0.000000	D	0.84401	0.5464	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85598	0.1250	9	0.87932	D	0	-7.3495	20.1346	0.98019	0.0:0.0:1.0:0.0	.	434;474;474	Q9NVN3-3;Q9NVN3;B7WPL0	.;RIC8B_HUMAN;.	Y	474;474;434	.	ENSP00000347662:D434Y	D	+	1	0	RIC8B	105778289	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.557000	0.71058	GAC		0.438	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		6	31	1	0	3.59834e-05	0.001168	4.05286e-05	6	31				
CSMD1	64478	broad.mit.edu	37	8	3351179	3351179	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:3351179C>T	ENST00000520002.1	-	12	1972	c.1417G>A	c.(1417-1419)Ggg>Agg	p.G473R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G473R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G472R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G473R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G473R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G472R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G472R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	473	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCACCTTCCCAGCATCACCA	0.507																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(1417-1419)Ggg>Agg		CUB and Sushi multiple domains 1							88.0	94.0	92.0					8																	3351179		2187	4299	6486	SO:0001583	missense	64478					integral to membrane		g.chr8:3351179C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.1417G>A	8.37:g.3351179C>T	ENSP00000430733:p.Gly473Arg					CSMD1_ENST00000537824.1_Missense_Mutation_p.G472R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G472R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G473R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G473R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G473R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G472R	p.G473R			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	12	1972	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	473			CUB 3.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.1417G>A		.	.	.	.	.	.	.	.	.	.	C	29.7	5.024754	0.93518	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	5.51	5.51	0.81932	.	.	.	.	.	T	0.41971	0.1182	M	0.63843	1.955	0.53005	D	0.999968	D	0.89917	1.0	D	0.91635	0.999	T	0.19031	-1.0318	9	0.72032	D	0.01	.	18.1991	0.89832	0.0:1.0:0.0:0.0	.	473	E5RIG2	.	R	473;473;335;472;472;472	ENSP00000383047:G473R;ENSP00000430733:G473R;ENSP00000441462:G472R;ENSP00000446243:G472R;ENSP00000441675:G472R	ENSP00000320445:G335R	G	-	1	0	CSMD1	3338587	1.000000	0.71417	0.990000	0.47175	0.842000	0.47809	7.285000	0.78660	2.574000	0.86865	0.650000	0.86243	GGG		0.507	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		4	9	0	0	0	0.000602	0	4	9				
SON	6651	broad.mit.edu	37	21	34931551	34931551	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr21:34931551G>A	ENST00000356577.4	+	5	6812	c.6337G>A	c.(6337-6339)Gca>Aca	p.A2113T	SON_ENST00000290239.6_Missense_Mutation_p.A2113T|SON_ENST00000381692.2_Missense_Mutation_p.A141T|SON_ENST00000300278.4_Missense_Mutation_p.A2113T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2113					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAAACAGATCGCACAGAGTAA	0.308																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(6337-6339)Gca>Aca		SON DNA binding protein							97.0	94.0	95.0					21																	34931551		2203	4298	6501	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34931551G>A	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6337G>A	21.37:g.34931551G>A	ENSP00000348984:p.Ala2113Thr					SON_ENST00000300278.4_Missense_Mutation_p.A2113T|SON_ENST00000290239.6_Missense_Mutation_p.A2113T|SON_ENST00000381692.2_Missense_Mutation_p.A141T	p.A2113T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			5	6812	+			2113					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.6337G>A	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392612	0.42410	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000381692;ENST00000300278;ENST00000421541	T;T;T	0.12672	2.71;2.69;2.66	5.4	4.52	0.55395	.	0.000000	0.53938	D	0.000060	T	0.12732	0.0309	L	0.47716	1.5	0.43417	D	0.995568	P;D;B;P;B	0.53312	0.58;0.959;0.445;0.58;0.427	B;B;B;B;B	0.36922	0.145;0.236;0.051;0.11;0.145	T	0.03863	-1.0997	10	0.51188	T	0.08	.	14.5911	0.68365	0.0708:0.0:0.9292:0.0	.	2113;141;2113;1794;2113	P18583-10;Q6ZRV7;P18583;P18583-2;P18583-3	.;.;SON_HUMAN;.;.	T	2113;2113;141;2113;174	ENSP00000348984:A2113T;ENSP00000290239:A2113T;ENSP00000300278:A2113T	ENSP00000290239:A2113T	A	+	1	0	SON	33853421	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	8.548000	0.90669	1.413000	0.46997	0.650000	0.86243	GCA		0.308	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		12	42	0	0	0	0.013537	0	12	42				
TEX15	56154	broad.mit.edu	37	8	30703495	30703495	+	Silent	SNP	T	T	C	rs201665635		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:30703495T>C	ENST00000256246.2	-	1	3113	c.3039A>G	c.(3037-3039)acA>acG	p.T1013T	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1013					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTGCAAAGATGTGTGAACTC	0.343																																						ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(3037-3039)acA>acG		testis expressed 15		T		0,4406		0,0,2203	111.0	124.0	120.0		3039	0.5	1.0	8		120	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	TEX15	NM_031271.3		0,1,6499	CC,CT,TT		0.0116,0.0,0.0077		1013/2790	30703495	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	56154							g.chr8:30703495T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.3039A>G	8.37:g.30703495T>C							p.T1013T	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	3113	-			1013						Silent	SNP	ENST00000256246.2	37	c.3039A>G	CCDS6080.1																																																																																				0.343	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			42	98	0	0	0	0.014410	0	42	98				
SIGLEC6	946	broad.mit.edu	37	19	52033054	52033054	+	Silent	SNP	T	T	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr19:52033054T>G	ENST00000425629.3	-	5	1090	c.936A>C	c.(934-936)gcA>gcC	p.A312A	SIGLEC6_ENST00000359982.4_Silent_p.A323A|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000346477.3_Silent_p.A296A|SIGLEC6_ENST00000436458.1_Silent_p.A260A|SIGLEC6_ENST00000391797.3_Silent_p.A301A|SIGLEC6_ENST00000343300.4_Silent_p.A312A	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	312	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTCCTTCTTCTGCAGACCCTA	0.607																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(886-888)gcA>gcC		sialic acid binding Ig-like lectin 6							46.0	53.0	51.0					19																	52033054		2182	4286	6468	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033054T>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.936A>C	19.37:g.52033054T>G						SIGLEC6_ENST00000436458.1_Silent_p.A260A|SIGLEC6_ENST00000425629.3_Silent_p.A312A|SIGLEC6_ENST00000343300.4_Silent_p.A312A|SIGLEC6_ENST00000391797.3_Silent_p.A301A|SIGLEC6_ENST00000359982.4_Silent_p.A323A	p.A296A	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	4	956	-		all_neural(266;0.0199)	312			Ig-like C2-type 2.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.888A>C	CCDS12834.3																																																																																				0.607	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		14	32	0	0	0	0.002450	0	14	32				
SLC18A3	6572	broad.mit.edu	37	10	50819421	50819421	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:50819421G>C	ENST00000374115.3	+	1	1075	c.635G>C	c.(634-636)cGt>cCt	p.R212P	CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	212					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GAGCGCAGTCGTGCACTGGGC	0.672																																						ENST00000374115.3																			0				endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						c.(634-636)cGt>cCt		solute carrier family 18 (vesicular acetylcholine transporter), member 3							29.0	35.0	33.0					10																	50819421		2203	4300	6503	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819421G>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.635G>C	10.37:g.50819421G>C	ENSP00000363229:p.Arg212Pro					CHAT_ENST00000339797.1_Intron	p.R212P	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN			1	1075	+			212					B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.635G>C	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	G	19.02	3.746531	0.69418	.	.	ENSG00000187714	ENST00000374115	T	0.60797	0.16	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.218234	0.32836	U	0.005581	T	0.61999	0.2392	M	0.61703	1.905	0.31750	N	0.634687	P	0.42757	0.789	P	0.47075	0.536	T	0.72340	-0.4323	10	0.66056	D	0.02	0.3185	12.2628	0.54660	0.0781:0.0:0.9219:0.0	.	212	Q16572	VACHT_HUMAN	P	212	ENSP00000363229:R212P	ENSP00000363229:R212P	R	+	2	0	SLC18A3	50489427	1.000000	0.71417	0.977000	0.42913	0.956000	0.61745	6.374000	0.73132	2.464000	0.83262	0.561000	0.74099	CGT		0.672	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		4	13	0	0	0	0.009096	0	4	13				
MARK3	4140	broad.mit.edu	37	14	103958157	103958157	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:103958157A>G	ENST00000429436.2	+	15	2140	c.1630A>G	c.(1630-1632)Atc>Gtc	p.I544V	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.I567V|MARK3_ENST00000216288.7_Missense_Mutation_p.I528V|MARK3_ENST00000553942.1_Missense_Mutation_p.I544V|MARK3_ENST00000440884.3_Missense_Mutation_p.I465V|MARK3_ENST00000303622.9_Missense_Mutation_p.I544V|MARK3_ENST00000335102.5_Missense_Mutation_p.I567V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	544						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AACACACAGTATCAGTAGTGC	0.488																																						ENST00000429436.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(1630-1632)Atc>Gtc		MAP/microtubule affinity-regulating kinase 3							79.0	78.0	78.0					14																	103958157		2001	4178	6179	SO:0001583	missense	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103958157A>G	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.1630A>G	14.37:g.103958157A>G	ENSP00000411397:p.Ile544Val					MARK3_ENST00000335102.5_Missense_Mutation_p.I567V|MARK3_ENST00000303622.9_Missense_Mutation_p.I544V|MARK3_ENST00000440884.3_Missense_Mutation_p.I465V|MARK3_ENST00000216288.7_Missense_Mutation_p.I528V|MARK3_ENST00000553942.1_Missense_Mutation_p.I544V|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.I567V	p.I544V	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	Epithelial(46;0.241)		15	2140	+		Melanoma(154;0.155)	544					O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	ENST00000429436.2	37	c.1630A>G	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.403251	0.25291	.	.	ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744	T;T;T;T;T;T;T;T	0.37235	1.21;1.21;1.21;1.21;1.21;1.21;1.21;1.21	5.87	0.834	0.18880	.	0.145641	0.64402	N	0.000012	T	0.21227	0.0511	L	0.28556	0.865	0.43662	D	0.996083	B;B;B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.001;0.0;0.001;0.0;0.002	B;B;B;B;B;B;B;B	0.15052	0.003;0.001;0.003;0.008;0.003;0.003;0.002;0.012	T	0.11060	-1.0603	10	0.12103	T	0.63	.	9.1503	0.36959	0.6904:0.0:0.3096:0.0	.	551;131;567;528;544;465;544;544	P27448-7;A2SY06;P27448-2;P27448-6;P27448;Q86TT8;P27448-4;P27448-3	.;.;.;.;MARK3_HUMAN;.;.;.	V	567;245;465;567;544;544;528;544;131	ENSP00000335347:I567V;ENSP00000402104:I465V;ENSP00000408092:I567V;ENSP00000411397:I544V;ENSP00000303698:I544V;ENSP00000216288:I528V;ENSP00000450772:I544V;ENSP00000451623:I131V	ENSP00000216288:I544V	I	+	1	0	MARK3	103027910	1.000000	0.71417	0.927000	0.36925	0.929000	0.56500	2.720000	0.47252	-0.028000	0.13850	-0.254000	0.11334	ATC		0.488	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		11	45	0	0	0	0.008291	0	11	45				
CIART	148523	broad.mit.edu	37	1	150255844	150255844	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:150255844G>C	ENST00000290363.5	+	1	616	c.167G>C	c.(166-168)cGg>cCg	p.R56P	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56P|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		56					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGGTTCACGGCCCAGCCCG	0.602																																						ENST00000290363.5																			0				endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10						c.(166-168)cGg>cCg		chromosome 1 open reading frame 51							116.0	117.0	116.0					1																	150255844		2203	4300	6503	SO:0001583	missense	148523							g.chr1:150255844G>C																												ENST00000290363.5:c.167G>C	1.37:g.150255844G>C	ENSP00000290363:p.Arg56Pro					C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56P	p.R56P	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	616	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		56					B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	ENST00000290363.5	37	c.167G>C	CCDS949.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476473	0.63737	.	.	ENSG00000159208	ENST00000369095;ENST00000290363	.	.	.	4.7	2.83	0.33086	.	0.561327	0.18254	N	0.146860	T	0.50240	0.1604	L	0.60455	1.87	0.33133	D	0.543328	D	0.67145	0.996	D	0.65987	0.94	T	0.53443	-0.8438	9	0.72032	D	0.01	-2.2513	7.2538	0.26164	0.1801:0.0:0.8199:0.0	.	56	Q8N365	CA051_HUMAN	P	56	.	ENSP00000290363:R56P	R	+	2	0	C1orf51	148522468	0.664000	0.27457	0.987000	0.45799	0.959000	0.62525	0.773000	0.26661	0.597000	0.29811	0.655000	0.94253	CGG		0.602	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035058.1			8	170	0	0	0	0.006214	0	8	170				
MEPE	56955	broad.mit.edu	37	4	88755893	88755893	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:88755893C>T	ENST00000424957.3	+	2	100	c.27C>T	c.(25-27)ctC>ctT	p.L9L	MEPE_ENST00000361056.3_Silent_p.L9L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000497649.2_5'UTR|MEPE_ENST00000395102.4_Silent_p.L9L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000511670.1_Silent_p.L9L	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	9					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TGGGACTACTCCTTTTCAGTG	0.368																																						ENST00000395102.4																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(25-27)ctC>ctT		matrix extracellular phosphoglycoprotein							158.0	155.0	156.0					4																	88755893		2203	4300	6503	SO:0001819	synonymous_variant	56955				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr4:88755893C>T	AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.27C>T	4.37:g.88755893C>T						MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000361056.3_Silent_p.L9L|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000424957.3_Silent_p.L9L|MEPE_ENST00000511670.1_Silent_p.L9L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_5'UTR	p.L9L			Q9NQ76	MEPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000432)	2	137	+		Hepatocellular(203;0.114)	9					A1A4X9|A8MTA3|D2CFR4|F5H5C5	Silent	SNP	ENST00000424957.3	37	c.27C>T	CCDS3625.1																																																																																				0.368	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253038.1			17	76	0	0	0	0.012319	0	17	76				
PKIG	11142	broad.mit.edu	37	20	43246985	43246985	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:43246985G>T	ENST00000372889.1	+	6	796	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372894.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372891.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372892.3_Missense_Mutation_p.D71Y|PKIG_ENST00000349959.3_Missense_Mutation_p.D71Y|ADA_ENST00000464097.1_5'Flank|PKIG_ENST00000372886.1_Missense_Mutation_p.D71Y|PKIG_ENST00000372887.1_Intron|Z97053.1_ENST00000597250.1_Intron	NM_001281444.1	NP_001268373.1	Q9Y2B9	IPKG_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor gamma	71					negative regulation of protein import into nucleus (GO:0042308)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|signal transduction (GO:0007165)		cAMP-dependent protein kinase inhibitor activity (GO:0004862)			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			CCAGAGCAGCGATGGGACCAC	0.587																																						ENST00000372889.1																			0				breast(1)|urinary_tract(1)	2						c.(211-213)Gat>Tat		protein kinase (cAMP-dependent, catalytic) inhibitor gamma							132.0	135.0	134.0					20																	43246985		2203	4300	6503	SO:0001583	missense	11142						cAMP-dependent protein kinase inhibitor activity|protein binding	g.chr20:43246985G>T	AB019517	CCDS13334.1	20q13.12-q13.13	2008-07-03			ENSG00000168734	ENSG00000168734			9019	protein-coding gene	gene with protein product		604932				10880337	Standard	NM_181805		Approved		uc002xmi.3	Q9Y2B9	OTTHUMG00000033065	ENST00000372889.1:c.211G>T	20.37:g.43246985G>T	ENSP00000361980:p.Asp71Tyr					Z97053.1_ENST00000597250.1_Intron|PKIG_ENST00000372891.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372886.1_Missense_Mutation_p.D71Y|PKIG_ENST00000372887.1_Intron|PKIG_ENST00000349959.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372892.3_Missense_Mutation_p.D71Y|PKIG_ENST00000372882.3_Intron|PKIG_ENST00000372894.3_Missense_Mutation_p.D71Y	p.D71Y			Q9Y2B9	IPKG_HUMAN	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)		6	796	+		Myeloproliferative disorder(115;0.0122)	71						Missense_Mutation	SNP	ENST00000372889.1	37	c.211G>T	CCDS13334.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943019	0.53079	.	.	ENSG00000168734	ENST00000372894;ENST00000372892;ENST00000372891;ENST00000372889;ENST00000372886;ENST00000349959	.	.	.	5.45	4.5	0.54988	.	0.340253	0.26808	N	0.022385	T	0.49525	0.1562	.	.	.	0.26705	N	0.971083	P	0.42871	0.792	P	0.50231	0.635	T	0.47394	-0.9121	8	0.72032	D	0.01	-5.4907	10.3827	0.44121	0.0906:0.0:0.9094:0.0	.	71	Q9Y2B9	IPKG_HUMAN	Y	71	.	ENSP00000338067:D71Y	D	+	1	0	PKIG	42680399	0.272000	0.24172	0.041000	0.18516	0.765000	0.43378	1.487000	0.35540	1.281000	0.44480	0.563000	0.77884	GAT		0.587	PKIG-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127804.1			37	132	1	0	9.62906e-15	0.006230	1.18426e-14	37	132				
PCSK5	5125	broad.mit.edu	37	9	78969062	78969062	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr9:78969062C>T	ENST00000545128.1	+	36	5638	c.5100C>T	c.(5098-5100)agC>agT	p.S1700S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1700	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGACGACAGCCACTGCCTCC	0.602																																						ENST00000545128.1																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(5098-5100)agC>agT		proprotein convertase subtilisin/kexin type 5							17.0	15.0	16.0					9																	78969062		876	1991	2867	SO:0001819	synonymous_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78969062C>T		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5100C>T	9.37:g.78969062C>T							p.S1700S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN			36	5638	+			765					F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	c.5100C>T	CCDS55320.1																																																																																				0.602	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				3	10	0	0	0	0.004672	0	3	10				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000535788.1_Silent_p.P113P	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	67	0	0	0	0.009096	0	4	67				
HIST1H2AG	8969	broad.mit.edu	37	6	27100994	27100994	+	Silent	SNP	G	G	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:27100994G>T	ENST00000359193.2	+	1	163	c.144G>T	c.(142-144)gcG>gcT	p.A48A	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	48						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GGGCCGGCGCGCCGGTGTATC	0.682																																						ENST00000359193.2																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						c.(142-144)gcG>gcT		histone cluster 1, H2ag							35.0	40.0	38.0					6																	27100994		2203	4299	6502	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27100994G>T	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.144G>T	6.37:g.27100994G>T							p.A48A	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN			1	163	+			48					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.144G>T	CCDS4619.1																																																																																				0.682	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1	NM_021064		14	58	1	0	9.31168e-06	0.001855	1.08299e-05	14	58				
LATS1	9113	broad.mit.edu	37	6	150001304	150001304	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr6:150001304C>A	ENST00000543571.1	-	5	2847	c.2300G>T	c.(2299-2301)cGt>cTt	p.R767L	LATS1_ENST00000253339.5_Missense_Mutation_p.R767L|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATAATATAGACGAACTACCCA	0.373																																						ENST00000543571.1																			0				central_nervous_system(1)|lung(5)	6						c.(2299-2301)cGt>cTt		large tumor suppressor kinase 1							122.0	120.0	121.0					6																	150001304		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150001304C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2300G>T	6.37:g.150001304C>A	ENSP00000437550:p.Arg767Leu					LATS1_ENST00000253339.5_Missense_Mutation_p.R767L|LATS1_ENST00000542747.1_5'UTR	p.R767L	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	5	2847	-		Ovarian(120;0.0164)	767			Protein kinase.			Missense_Mutation	SNP	ENST00000543571.1	37	c.2300G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.800507	0.90538	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.09445	2.98;2.98	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	T	0.20210	0.0486	L	0.49126	1.545	0.80722	D	1	D	0.61080	0.989	D	0.68621	0.959	T	0.00417	-1.1752	9	.	.	.	.	19.7653	0.96337	0.0:1.0:0.0:0.0	.	767	O95835	LATS1_HUMAN	L	767	ENSP00000437550:R767L;ENSP00000253339:R767L	.	R	-	2	0	LATS1	150042997	1.000000	0.71417	0.991000	0.47740	0.967000	0.64934	4.600000	0.61083	2.730000	0.93505	0.563000	0.77884	CGT		0.373	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		22	58	1	0	3.7963e-18	0.003330	4.72331e-18	22	58				
TACR2	6865	broad.mit.edu	37	10	71175838	71175838	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr10:71175838C>T	ENST00000373306.4	-	1	785	c.242G>A	c.(241-243)tGc>tAc	p.C81Y		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	81					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GGCAGCCATGCAGAGGTCAGC	0.547																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(241-243)tGc>tAc		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						130.0	97.0	108.0					10																	71175838		2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71175838C>T		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.242G>A	10.37:g.71175838C>T	ENSP00000362403:p.Cys81Tyr						p.C81Y	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			1	785	-			81					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.242G>A	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261318	0.59431	.	.	ENSG00000075073	ENST00000373306	T	0.18657	2.2	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.183316	0.47852	D	0.000214	T	0.42585	0.1209	M	0.77486	2.375	0.39052	D	0.960356	D	0.65815	0.995	D	0.64506	0.926	T	0.44329	-0.9335	10	0.66056	D	0.02	.	9.3277	0.38003	0.1981:0.6736:0.1283:0.0	.	81	P21452	NK2R_HUMAN	Y	81	ENSP00000362403:C81Y	ENSP00000362403:C81Y	C	-	2	0	TACR2	70845844	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	3.131000	0.50515	2.590000	0.87494	0.563000	0.77884	TGC		0.547	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			11	16	0	0	0	0.008291	0	11	16				
MOGS	7841	broad.mit.edu	37	2	74689540	74689540	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:74689540A>G	ENST00000233616.4	-	4	1538	c.1376T>C	c.(1375-1377)gTt>gCt	p.V459A	MOGS_ENST00000462443.1_5'Flank|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.V353A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	459					cellular protein metabolic process (GO:0044267)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosidase activity (GO:0015926)|mannosyl-oligosaccharide glucosidase activity (GO:0004573)			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCACCGCTGAACCACCAGCTG	0.597																																						ENST00000233616.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						c.(1375-1377)gTt>gCt		mannosyl-oligosaccharide glucosidase							46.0	50.0	48.0					2																	74689540		1963	4139	6102	SO:0001583	missense	7841				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity	g.chr2:74689540A>G	X87237	CCDS42700.1, CCDS54370.1	2p13.1	2012-01-31			ENSG00000115275	ENSG00000115275	3.2.1.106		24862	protein-coding gene	gene with protein product	"""glucosidase I"", ""processing A-glucosidase I"""	601336				7635146, 8786151	Standard	NM_006302		Approved	GCS1, CWH41, DER7	uc010ffj.3	Q13724	OTTHUMG00000152886	ENST00000233616.4:c.1376T>C	2.37:g.74689540A>G	ENSP00000233616:p.Val459Ala					MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.V353A	p.V459A	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN			4	1538	-			459					A8K938|F5H6D0|Q17RN9|Q8TCT5	Missense_Mutation	SNP	ENST00000233616.4	37	c.1376T>C	CCDS42700.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.725147	0.48833	.	.	ENSG00000115275	ENST00000233616;ENST00000452063;ENST00000448666	T;T;T	0.41065	1.01;1.01;1.01	4.92	4.92	0.64577	Six-hairpin glycosidase-like (1);	0.316889	0.30269	N	0.010018	T	0.39279	0.1072	L	0.50993	1.605	0.80722	D	1	B	0.30824	0.296	B	0.33846	0.171	T	0.25433	-1.0132	10	0.36615	T	0.2	-11.6169	12.5656	0.56308	1.0:0.0:0.0:0.0	.	459	Q13724	MOGS_HUMAN	A	459;353;353	ENSP00000233616:V459A;ENSP00000388201:V353A;ENSP00000410992:V353A	ENSP00000233616:V459A	V	-	2	0	MOGS	74543048	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.235000	0.89803	2.071000	0.62044	0.533000	0.62120	GTT		0.597	MOGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328382.1	NM_006302		6	34	0	0	0	0.001168	0	6	34				
PCDH10	57575	broad.mit.edu	37	4	134072815	134072815	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr4:134072815T>C	ENST00000264360.5	+	1	2346	c.1520T>C	c.(1519-1521)aTc>aCc	p.I507T	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	507	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGTGCCAGATCCAGGGCATG	0.577																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(1519-1521)aTc>aCc		protocadherin 10							66.0	68.0	67.0					4																	134072815		2203	4299	6502	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134072815T>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.1520T>C	4.37:g.134072815T>C	ENSP00000264360:p.Ile507Thr						p.I507T	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	2346	+			507			Cadherin 5.		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.1520T>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.147936	0.57151	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.50548	0.74	4.51	4.51	0.55191	Cadherin (4);Cadherin-like (1);	0.000000	0.43919	D	0.000501	T	0.55689	0.1936	L	0.28776	0.89	0.58432	D	0.999999	D;P	0.69078	0.997;0.616	D;P	0.83275	0.996;0.549	T	0.58945	-0.7546	10	0.59425	D	0.04	.	12.9618	0.58462	0.0:0.0:0.0:1.0	.	507;507	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	507	ENSP00000264360:I507T	ENSP00000264360:I507T	I	+	2	0	PCDH10	134292265	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.836000	0.86788	1.889000	0.54706	0.533000	0.62120	ATC		0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		22	71	0	0	0	0.014323	0	22	71				
COL4A2	1284	broad.mit.edu	37	13	111117869	111117869	+	Missense_Mutation	SNP	C	C	T	rs369462083		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr13:111117869C>T	ENST00000360467.5	+	25	2200	c.1894C>T	c.(1894-1896)Cgt>Tgt	p.R632C	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	632	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CAAAGGCCAACGTGGTTTCCC	0.632																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(1894-1896)Cgt>Tgt		collagen, type IV, alpha 2		C	CYS/ARG	0,3686		0,0,1843	35.0	40.0	39.0		1894	4.7	0.3	13		39	1,8179		0,1,4089	no	missense	COL4A2	NM_001846.2	180	0,1,5932	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging	632/1713	111117869	1,11865	1843	4090	5933	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117869C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1894C>T	13.37:g.111117869C>T	ENSP00000353654:p.Arg632Cys						p.R632C	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2200	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	632			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.1894C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879869	0.33162	0.0	1.22E-4	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93712	-3.27	4.65	4.65	0.58169	.	0.260062	0.27311	N	0.019941	D	0.93334	0.7875	M	0.69185	2.1	0.58432	D	0.999999	D	0.65815	0.995	P	0.46339	0.513	D	0.94074	0.7338	10	0.59425	D	0.04	.	17.1381	0.86745	0.0:1.0:0.0:0.0	.	632	P08572	CO4A2_HUMAN	C	632	ENSP00000353654:R632C	ENSP00000257309:R632C	R	+	1	0	COL4A2	109915870	0.034000	0.19679	0.252000	0.24328	0.057000	0.15508	3.378000	0.52432	2.136000	0.66102	0.462000	0.41574	CGT		0.632	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		9	34	0	0	0	0.004482	0	9	34				
WIPF1	7456	broad.mit.edu	37	2	175437112	175437112	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:175437112A>G	ENST00000392547.2	-	5	520	c.421T>C	c.(421-423)Ttt>Ctt	p.F141L	WIPF1_ENST00000409891.1_Missense_Mutation_p.F141L|AC010894.5_ENST00000454203.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.F141L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000467149.1_5'Flank|WIPF1_ENST00000409415.3_Missense_Mutation_p.F141L|WIPF1_ENST00000272746.5_Missense_Mutation_p.F141L|WIPF1_ENST00000392546.2_Missense_Mutation_p.F141L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	141					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGGGGTGAAAAGGGTTTCGCA	0.562																																						ENST00000392547.2																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						c.(421-423)Ttt>Ctt		WAS/WASL interacting protein family, member 1							42.0	51.0	48.0					2																	175437112		2202	4297	6499	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175437112A>G	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.421T>C	2.37:g.175437112A>G	ENSP00000376330:p.Phe141Leu					WIPF1_ENST00000392546.2_Missense_Mutation_p.F141L|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Missense_Mutation_p.F141L|WIPF1_ENST00000409415.3_Missense_Mutation_p.F141L|WIPF1_ENST00000359761.3_Missense_Mutation_p.F141L|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.F141L	p.F141L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN			5	520	-			141					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.421T>C	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	A	16.92	3.256326	0.59321	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428	T;T;T;T;T;T	0.48201	1.52;1.5;1.52;1.52;0.92;0.82	5.09	5.09	0.68999	.	0.050134	0.85682	D	0.000000	T	0.50343	0.1610	M	0.62016	1.91	0.80722	D	1	P;D;D;P	0.58268	0.925;0.982;0.971;0.877	B;P;P;B	0.48815	0.352;0.591;0.572;0.192	T	0.48490	-0.9031	10	0.11485	T	0.65	.	14.8191	0.70059	1.0:0.0:0.0:0.0	.	141;141;141;141	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	L	141;141;141;141;141;141;141;138	ENSP00000376330:F141L;ENSP00000272746:F141L;ENSP00000352802:F141L;ENSP00000376329:F141L;ENSP00000386431:F141L;ENSP00000387150:F141L	ENSP00000272746:F141L	F	-	1	0	WIPF1	175145358	1.000000	0.71417	0.046000	0.18839	0.004000	0.04260	4.729000	0.62008	2.038000	0.60285	0.459000	0.35465	TTT		0.562	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		3	51	0	0	0	0.004672	0	3	51				
GJC1	10052	broad.mit.edu	37	17	42882699	42882699	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr17:42882699C>A	ENST00000426548.1	-	3	756	c.487G>T	c.(487-489)Gat>Tat	p.D163Y	GJC1_ENST00000590758.1_Missense_Mutation_p.D163Y|GJC1_ENST00000592524.1_Missense_Mutation_p.D163Y|GJC1_ENST00000330514.4_Missense_Mutation_p.D163Y	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	163					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CGTCGGCCATCATGCTTAGGT	0.478																																						ENST00000426548.1																			0				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19						c.(487-489)Gat>Tat		gap junction protein, gamma 1, 45kDa							204.0	183.0	190.0					17																	42882699		2203	4300	6503	SO:0001583	missense	10052				cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane		g.chr17:42882699C>A	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.487G>T	17.37:g.42882699C>A	ENSP00000411528:p.Asp163Tyr					GJC1_ENST00000330514.4_Missense_Mutation_p.D163Y|GJC1_ENST00000590758.1_Missense_Mutation_p.D163Y|GJC1_ENST00000592524.1_Missense_Mutation_p.D163Y	p.D163Y	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN			3	756	-		Prostate(33;0.0959)	163					B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	37	c.487G>T	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575923	0.65878	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.98313	-4.86;-4.86	5.52	5.52	0.82312	.	0.417693	0.26328	N	0.025020	D	0.98852	0.9612	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99892	1.1136	10	0.87932	D	0	.	18.419	0.90582	0.0:1.0:0.0:0.0	.	163	P36383	CXG1_HUMAN	Y	163	ENSP00000411528:D163Y;ENSP00000333193:D163Y	ENSP00000333193:D163Y	D	-	1	0	GJC1	40238225	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	6.071000	0.71229	2.581000	0.87130	0.514000	0.50259	GAT		0.478	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497		27	127	1	0	6.12954e-19	0.004656	7.716e-19	27	127				
ABRA	137735	broad.mit.edu	37	8	107782152	107782152	+	Silent	SNP	A	A	G			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr8:107782152A>G	ENST00000311955.3	-	1	321	c.267T>C	c.(265-267)caT>caC	p.H89H		NM_139166.4	NP_631905.1			actin-binding Rho activating protein											breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCCATCTCCATGTCCTTCTG	0.532																																						ENST00000311955.3																			0				breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27						c.(265-267)caT>caC		actin-binding Rho activating protein							106.0	105.0	106.0					8																	107782152		2203	4300	6503	SO:0001819	synonymous_variant	137735				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	g.chr8:107782152A>G	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.267T>C	8.37:g.107782152A>G							p.H89H	NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)		1	321	-			89						Silent	SNP	ENST00000311955.3	37	c.267T>C	CCDS6305.1																																																																																				0.532	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166		13	129	0	0	0	0.001855	0	13	129				
TRMT13	54482	broad.mit.edu	37	1	100602603	100602603	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:100602603C>A	ENST00000370141.2	+	3	229	c.223C>A	c.(223-225)Cat>Aat	p.H75N	TRMT13_ENST00000370139.1_Missense_Mutation_p.H44N|TRMT13_ENST00000370143.1_Missense_Mutation_p.H75N	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	75					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ACTAGCAAAGCATTTGAAAAA	0.328																																						ENST00000370141.2																			0											c.(223-225)Cat>Aat		tRNA methyltransferase 13 homolog (S. cerevisiae)							88.0	91.0	90.0					1																	100602603		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100602603C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.223C>A	1.37:g.100602603C>A	ENSP00000359160:p.His75Asn					TRMT13_ENST00000370143.1_Missense_Mutation_p.H75N|TRMT13_ENST00000370139.1_Missense_Mutation_p.H44N	p.H75N	NM_019083.2	NP_061956.2					3	229	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.223C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.729058	0.89390	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	D;D;D	0.99948	-8.68;-8.68;-8.68	5.78	5.78	0.91487	TRM13/UPF0224 family, U11-48K-like CHHC zinc finger domain (1);	0.000000	0.85682	D	0.000000	D	0.99963	0.9985	M	0.93375	3.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96136	0.9096	10	0.87932	D	0	-16.9239	19.5995	0.95554	0.0:1.0:0.0:0.0	.	75;75	B4DQS9;Q9NUP7	.;TRM13_HUMAN	N	75;75;44	ENSP00000359162:H75N;ENSP00000359160:H75N;ENSP00000359158:H44N	ENSP00000359158:H44N	H	+	1	0	CCDC76	100375191	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CAT		0.328	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		10	55	1	0	2.80697e-09	0.010729	3.41303e-09	10	55				
MCM8	84515	broad.mit.edu	37	20	5974238	5974238	+	Missense_Mutation	SNP	C	C	G	rs200761922		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr20:5974238C>G	ENST00000378896.3	+	18	2704	c.2327C>G	c.(2326-2328)gCg>gGg	p.A776G	MCM8_ENST00000378883.1_Missense_Mutation_p.A729G|MCM8_ENST00000378886.2_Missense_Mutation_p.A816G|MCM8_ENST00000265187.4_Missense_Mutation_p.A760G	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	776					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGGTCAACAGCGAAAAGATTT	0.368																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2326-2328)gCg>gGg		minichromosome maintenance complex component 8							69.0	74.0	72.0					20																	5974238		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5974238C>G	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2327C>G	20.37:g.5974238C>G	ENSP00000368174:p.Ala776Gly					MCM8_ENST00000378883.1_Missense_Mutation_p.A729G|MCM8_ENST00000265187.4_Missense_Mutation_p.A760G|MCM8_ENST00000378886.2_Missense_Mutation_p.A816G	p.A776G	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			18	2704	+			776					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.2327C>G	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775462	0.49786	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.03004	4.14;4.08;4.15;4.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.06142	0.0159	L	0.46947	1.48	0.58432	D	0.999999	B;B;B;B	0.23540	0.087;0.029;0.02;0.052	B;B;B;B	0.24269	0.052;0.016;0.052;0.023	T	0.46162	-0.9211	10	0.21540	T	0.41	-18.1753	20.1092	0.97906	0.0:1.0:0.0:0.0	.	729;816;760;776	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	G	776;729;816;760	ENSP00000368174:A776G;ENSP00000368161:A729G;ENSP00000368164:A816G;ENSP00000265187:A760G	ENSP00000265187:A760G	A	+	2	0	MCM8	5922238	1.000000	0.71417	0.999000	0.59377	0.775000	0.43874	5.389000	0.66255	2.745000	0.94114	0.655000	0.94253	GCG		0.368	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		18	93	0	0	0	0.006122	0	18	93				
OSBPL9	114883	broad.mit.edu	37	1	52256303	52256304	+	IGR	INS	-	-	CC			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:52256303_52256304insCC	ENST00000428468.1	+	0	2893				NRD1_ENST00000354831.7_Frame_Shift_Ins_p.L1092fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.L1024fs|NRD1_ENST00000539524.1_Frame_Shift_Ins_p.L960fs			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						CACTCCTTCAGCTTGATGAGAG	0.545																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.(3271-3276)aatgaafs		nardilysin (N-arginine dibasic convertase)																																				SO:0001628	intergenic_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52256303_52256304insCC	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		1.37:g.52256303_52256304insCC						NRD1_ENST00000539524.1_Frame_Shift_Ins_p.NE959fs|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.NE1023fs|NRD1_ENST00000485608.1_5'UTR	p.NE1091fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			31	3462_3463	-			1022					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Frame_Shift_Ins	INS	ENST00000428468.1	37	c.3273_3274insGG	CCDS41332.3																																																																																				0.545	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			14	67						14	67	---	---	---	---
RBM15	64783	broad.mit.edu	37	1	110884597	110884598	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:110884597_110884598insT	ENST00000369784.3	+	1	3470_3471	c.2570_2571insT	c.(2569-2574)tatgccfs	p.A858fs	RBM15_ENST00000487146.2_Frame_Shift_Ins_p.A858fs|RBM15_ENST00000602849.1_Frame_Shift_Ins_p.A858fs|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	858	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCAATGGTTATGCCATTCTTT	0.54			T	MKL1	acute megakaryocytic leukemia																																	ENST00000369784.3				Dom	yes		1	1p13	64783	T	RNA binding motif protein 15			L	MKL1		acute megakaryocytic leukemia		0				ovary(3)	3						c.(2569-2571)tgcfs		RNA binding motif protein 15																																				SO:0001589	frameshift_variant	64783				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:110884597_110884598insT	AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2571dupT	1.37:g.110884598_110884598dupT	ENSP00000358799:p.Ala858fs					RBM15_ENST00000487146.2_Frame_Shift_Ins_p.C857fs|RBM15_ENST00000602849.1_Frame_Shift_Ins_p.C857fs	p.C857fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)	1	3470_3471	+		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)	857			SPOC.		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Ins	INS	ENST00000369784.3	37	c.2570_2571insT	CCDS822.1																																																																																				0.540	RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768		53	111						53	111	---	---	---	---
ZNF687	57592	broad.mit.edu	37	1	151261022	151261023	+	Frame_Shift_Ins	INS	-	-	T			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr1:151261022_151261023insT	ENST00000368879.2	+	3	2232_2233	c.2134_2135insT	c.(2134-2136)atgfs	p.M712fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	712					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	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)			AACCTGCCCCATGATGCTCCCC	0.574																																						ENST00000368879.2																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32						c.(2134-2136)gatfs		zinc finger protein 687																																				SO:0001589	frameshift_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151261022_151261023insT		CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.2135dupT	1.37:g.151261023_151261023dupT	ENSP00000357874:p.Met712fs						p.D712fs	NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		3	2232_2233	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		712					D3DV17|Q68DQ8|Q9H937|Q9P2A7	Frame_Shift_Ins	INS	ENST00000368879.2	37	c.2134_2135insT																																																																																					0.574	ZNF687-201	KNOWN	basic	protein_coding	protein_coding		NM_020832		16	50						16	50	---	---	---	---
TGOLN2	10618	broad.mit.edu	37	2	85554626	85554627	+	In_Frame_Ins	INS	-	-	GGT	rs76078295		TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr2:85554626_85554627insGGT	ENST00000409232.3	-	2	289_290	c.228_229insACC	c.(226-231)acccca>accACCcca	p.76_77insT	TGOLN2_ENST00000409015.1_In_Frame_Ins_p.76_77insT|TGOLN2_ENST00000444342.2_In_Frame_Ins_p.76_77insT|TGOLN2_ENST00000377386.3_In_Frame_Ins_p.76_77insT|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_In_Frame_Ins_p.76_77insT			O43493	TGON2_HUMAN	trans-golgi network protein 2	76	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											GTGTCTTCTGGGGTCTGCGCCT	0.599																																						ENST00000377386.3																			0											c.(226-231)accaga>acACCcaga		trans-golgi network protein 2																																				SO:0001652	inframe_insertion	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554626_85554627insGGT	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.226_228dupACC	2.37:g.85554627_85554629dupGGT	ENSP00000386443:p.Thr76_Thr76dup					TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409015.1_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000398263.2_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000409232.3_In_Frame_Ins_p.76_77TR>TPR|TGOLN2_ENST00000444342.2_In_Frame_Ins_p.76_77TR>TPR	p.76_77TR>TPR			O43493	TGON2_HUMAN			2	690_691	-			76			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	In_Frame_Ins	INS	ENST00000409232.3	37	c.228_229insACC	CCDS56126.1																																																																																				0.599	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		33	299						33	299	---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																						ENST00000550785.1																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						c.(565-567)del		two pore segment channel 1																																				SO:0001651	inframe_deletion	53373					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	g.chr12:113704096_113704098delCTG	AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del					TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del	p.L194del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN			5	734_736	+			122					A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	ENST00000335509.6	37	c.565_567delCTG	CCDS31908.1																																																																																				0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405156.3	NM_017901		8	455						8	455	---	---	---	---
ZBTB25	7597	broad.mit.edu	37	14	64954345	64954345	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chr14:64954345delA	ENST00000608382.1	-	3	795	c.604delT	c.(604-606)tccfs	p.S202fs	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000394715.1_Frame_Shift_Del_p.S202fs|ZBTB25_ENST00000555220.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	202					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TGCTTGATGGAAACTGGGGGC	0.567																																						ENST00000394715.1																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10						c.(604-606)ccfs		zinc finger and BTB domain containing 25							156.0	176.0	169.0					14																	64954345		2203	4300	6503	SO:0001589	frameshift_variant	7597					cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:64954345delA	X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.604delT	14.37:g.64954345delA	ENSP00000476746:p.Ser202fs					ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000261683.2_Frame_Shift_Del_p.S202fs	p.S202fs			P24278	ZBT25_HUMAN		all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)	6	1305	-			202					B3KUX6|Q8IYH9	Frame_Shift_Del	DEL	ENST00000608382.1	37	c.604delT	CCDS9765.1																																																																																				0.567	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280649.2	NM_006977		61	221						61	221	---	---	---	---
USP9X	8239	broad.mit.edu	37	X	41088557	41088563	+	Frame_Shift_Del	DEL	CACAATC	CACAATC	-			TCGA-D6-6517-01A-11D-1870-08	TCGA-D6-6517-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c553e4a2-cbea-43d6-8937-a48836856b5a	ee72db3d-dee6-4565-baa2-810612583853	g.chrX:41088557_41088563delCACAATC	ENST00000324545.8	+	42	7746_7752	c.7113_7119delCACAATC	c.(7111-7119)gacacaatcfs	p.DTI2371fs	USP9X_ENST00000378308.2_Frame_Shift_Del_p.DTI2371fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2371					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GGCTGTTTGACACAATCCAGCGCTCTA	0.362																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(7111-7119)gafs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41088557_41088563delCACAATC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7113_7119delCACAATC	X.37:g.41088557_41088563delCACAATC	ENSP00000316357:p.Asp2371fs					USP9X_ENST00000378308.2_Frame_Shift_Del_p.DTI2371fs	p.DTI2371fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			42	7746_7752	+			2371					O75550|Q8WWT3|Q8WX12	Frame_Shift_Del	DEL	ENST00000324545.8	37	c.7113_7119delCACAATC	CCDS43930.1																																																																																				0.362	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		5	5						5	5	---	---	---	---
