#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
AGRN	375790	broad.mit.edu	37	1	970664	970664	+	Silent	SNP	C	C	A	rs148157593	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:970664C>A	ENST00000379370.2	+	3	521	c.471C>A	c.(469-471)ccC>ccA	p.P157P	AGRN_ENST00000477585.1_3'UTR	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	157	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.P157P(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAGATAAACCCGGGACCCACT	0.617																																						ENST00000379370.2																			1	Substitution - coding silent(1)	p.P157P(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(469-471)ccC>ccA		agrin							139.0	148.0	145.0					1																	970664		2203	4300	6503	SO:0001819	synonymous_variant	375790				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	g.chr1:970664C>A	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.471C>A	1.37:g.970664C>A			Somatic				AGRN_ENST00000477585.1_3'UTR	p.P157P	NM_198576.3	NP_940978.2	WXS	Illumina GAIIx	Phase_I	O00468	AGRIN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)	3	521	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	157			NtA.		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Silent	SNP	ENST00000379370.2	37	c.471C>A	CCDS30551.1																																																																																				0.617	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2	NM_198576		6	209	6	209	---	---	---	---
CDK11A	728642	broad.mit.edu	37	1	1650857	1650857	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:1650857G>T	ENST00000378633.1	-	4	344	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000356200.3_Missense_Mutation_p.Q55K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	89	Glu-rich.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GACATTTGCTGGGGTGGTTTG	0.418																																					Pancreas(186;965 2119 30274 40311 50569)	ENST00000356200.3																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						c.(163-165)Cag>Aag		cyclin-dependent kinase 11A							252.0	241.0	244.0					1																	1650857		1908	4116	6024	SO:0001583	missense	728642							g.chr1:1650857G>T	AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.265C>A	1.37:g.1650857G>T	ENSP00000367900:p.Gln89Lys		Somatic				CDK11A_ENST00000357760.2_Missense_Mutation_p.Q89K|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q89K|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q89K|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q55K|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q89K|CDK11A_ENST00000378635.3_Missense_Mutation_p.Q89K|RP1-283E3.8_ENST00000598846.1_RNA	p.Q55K			WXS	Illumina GAIIx	Phase_I					3	397	-								O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Missense_Mutation	SNP	ENST00000378633.1	37	c.163C>A		.	.	.	.	.	.	.	.	.	.	-	28.4	4.921162	0.92249	.	.	ENSG00000008128	ENST00000356200;ENST00000404249;ENST00000357760;ENST00000358779;ENST00000378633;ENST00000378638;ENST00000378630;ENST00000378635;ENST00000479362	T;T;T;T;T;T;T;T	0.06528	3.29;3.29;3.29;3.29;3.29;3.29;3.29;3.29	5.3	5.3	0.74995	.	0.081216	0.50627	U	0.000116	T	0.16171	0.0389	L	0.34521	1.04	0.47905	D	0.999549	D;D;D;D;D;P;P;D;D;D;D	0.76494	0.988;0.985;0.999;0.972;0.982;0.811;0.891;0.997;0.991;0.979;0.997	P;P;D;P;D;P;P;D;D;P;D	0.74348	0.843;0.794;0.978;0.615;0.968;0.879;0.867;0.972;0.977;0.64;0.983	T	0.06058	-1.0848	10	0.29301	T	0.29	.	17.9833	0.89148	0.0:0.0:1.0:0.0	.	89;89;89;89;89;89;55;89;89;55;89	B4E0M9;B4E0N4;E7ESP2;Q5QPR3;Q9UQ88-2;Q9UQ88-4;Q5QPR4;P21127-3;Q9UQ88;P21127-6;P21127-2	.;.;.;.;.;.;.;.;CD11A_HUMAN;.;.	K	55;89;89;89;89;55;55;89;89	ENSP00000348529:Q55K;ENSP00000384442:Q89K;ENSP00000350403:Q89K;ENSP00000351629:Q89K;ENSP00000367900:Q89K;ENSP00000367905:Q55K;ENSP00000367902:Q89K;ENSP00000423900:Q89K	ENSP00000348529:Q55K	Q	-	1	0	CDK11A	1640717	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	8.793000	0.91862	2.462000	0.83206	0.655000	0.94253	CAG		0.418	CDK11A-005	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000001735.1	NM_024011		8	392	8	392	---	---	---	---
WRAP73	49856	broad.mit.edu	37	1	3548782	3548782	+	Missense_Mutation	SNP	C	C	A	rs201901411		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3548782C>A	ENST00000270708.7	-	10	1116	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	WRAP73_ENST00000378322.3_Missense_Mutation_p.R348M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	348						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGACCGTTCCTTGTCGCCAG	0.512																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(1042-1044)aGg>aTg		WD repeat containing, antisense to TP73							248.0	225.0	233.0					1																	3548782		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3548782C>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.1043G>T	1.37:g.3548782C>A	ENSP00000270708:p.Arg348Met		Somatic				WRAP73_ENST00000270708.7_Missense_Mutation_p.R348M	p.R348M			WXS	Illumina GAIIx	Phase_I	Q9P2S5	WRP73_HUMAN			10	1101	-			348					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.1043G>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	7.124	0.578480	0.13686	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.53640	0.61;0.61;0.61	4.94	2.04	0.26737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.195146	0.52532	D	0.000064	T	0.46073	0.1374	M	0.77103	2.36	0.20403	N	0.99991	B;B	0.24721	0.014;0.11	B;B	0.26310	0.031;0.068	T	0.46582	-0.9181	10	0.56958	D	0.05	-34.0522	7.7253	0.28757	0.0:0.5826:0.0:0.4174	.	348;303	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	348;348;303	ENSP00000270708:R348M;ENSP00000367573:R348M;ENSP00000416192:R303M	ENSP00000270708:R348M	R	-	2	0	WRAP73	3538642	1.000000	0.71417	0.001000	0.08648	0.091000	0.18340	1.522000	0.35921	0.501000	0.28013	0.655000	0.94253	AGG		0.512	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			6	131	6	131	---	---	---	---
CCDC27	148870	broad.mit.edu	37	1	3670749	3670749	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:3670749C>A	ENST00000294600.2	+	2	470	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	129										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGGTCTTCCCCACGCATCCT	0.587																																						ENST00000294600.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36						c.(385-387)cCc>cAc		coiled-coil domain containing 27							143.0	138.0	140.0					1																	3670749		2203	4300	6503	SO:0001583	missense	148870							g.chr1:3670749C>A		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.386C>A	1.37:g.3670749C>A	ENSP00000294600:p.Pro129His		Somatic					p.P129H	NM_152492.2	NP_689705.2	WXS	Illumina GAIIx	Phase_I	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	2	470	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	129					Q5TBV3|Q96M50	Missense_Mutation	SNP	ENST00000294600.2	37	c.386C>A	CCDS50.1	.	.	.	.	.	.	.	.	.	.	C	4.284	0.051817	0.08291	.	.	ENSG00000162592	ENST00000294600	T	0.18174	2.23	3.48	2.36	0.29203	.	0.243123	0.21611	N	0.071782	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	P	0.52463	0.953	P	0.45449	0.481	T	0.12192	-1.0557	10	0.66056	D	0.02	-13.5851	5.2413	0.15473	0.0:0.136:0.0:0.864	.	129	Q2M243	CCD27_HUMAN	H	129	ENSP00000294600:P129H	ENSP00000294600:P129H	P	+	2	0	CCDC27	3660609	0.051000	0.20477	0.040000	0.18447	0.005000	0.04900	1.923000	0.40055	0.723000	0.32274	-0.320000	0.08662	CCC		0.587	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492		8	171	8	171	---	---	---	---
ZBTB48	3104	broad.mit.edu	37	1	6648255	6648255	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1515A>T	c.(1513-1515)caA>caT	p.Q505H		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505					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)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622																																					Esophageal Squamous(125;1449 1657 4031 29866 49542)	ENST00000377674.4																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						c.(1513-1515)caA>caT		zinc finger and BTB domain containing 48							94.0	81.0	86.0					1																	6648255		2203	4300	6503	SO:0001630	splice_region_variant	3104					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:6648255A>T	BC013573	CCDS84.1	1p36.3	2013-01-08	2006-09-20	2006-09-20	ENSG00000204859	ENSG00000204859		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	4930	protein-coding gene	gene with protein product		165270	"""GLI-Kruppel family member HKR3"""	HKR3		2850480, 8661141	Standard	NM_001278647		Approved	ZNF855	uc001anx.3	P10074	OTTHUMG00000001438	ENST00000377674.4:c.1516+1A>T	1.37:g.6648255A>T			Somatic					p.Q505H	NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	WXS	Illumina GAIIx	Phase_I	P10074	ZBT48_HUMAN		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)	8	1673	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	505					Q5SY19	Splice_Site	SNP	ENST00000377674.4	37	c.1515A>T	CCDS84.1	.	.	.	.	.	.	.	.	.	.	A	18.78	3.696053	0.68386	.	.	ENSG00000204859	ENST00000377674	T	0.07908	3.15	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.099205	0.64402	D	0.000001	T	0.13415	0.0325	N	0.12887	0.27	0.58432	D	0.999998	D	0.76494	0.999	D	0.70716	0.97	T	0.37361	-0.9709	10	0.29301	T	0.29	-16.2131	15.0522	0.71881	1.0:0.0:0.0:0.0	.	505	P10074	ZBT48_HUMAN	H	505	ENSP00000366902:Q505H	ENSP00000366902:Q505H	Q	+	3	2	ZBTB48	6570842	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.169000	0.64984	2.216000	0.71823	0.460000	0.39030	CAA		0.622	ZBTB48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004193.1	NM_005341	Missense_Mutation	19	34	19	34	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10421013	10421013	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:10421013G>T	ENST00000377086.1	+	39	4284	c.4082G>T	c.(4081-4083)tGg>tTg	p.W1361L	KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L			O60333	KIF1B_HUMAN	kinesin family member 1B	1361					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCTGTGTGGGATAGCTCT	0.483																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(4081-4083)tGg>tTg		kinesin family member 1B							225.0	182.0	197.0					1																	10421013		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10421013G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.4082G>T	1.37:g.10421013G>T	ENSP00000366290:p.Trp1361Leu		Somatic				KIF1B_ENST00000377081.1_Missense_Mutation_p.W1361L|KIF1B_ENST00000465635.1_3'UTR|KIF1B_ENST00000263934.6_Missense_Mutation_p.W1315L	p.W1361L			WXS	Illumina GAIIx	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	39	4284	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1361					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.4082G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.329879	0.95733	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	D;D;D	0.87809	-2.12;-2.3;-2.3	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.95188	0.8440	M	0.91510	3.215	0.80722	D	1	P;D;P;D;P;D	0.89917	0.951;1.0;0.784;0.996;0.698;0.981	P;D;P;D;P;D	0.91635	0.825;0.999;0.639;0.977;0.451;0.954	D	0.95704	0.8752	10	0.87932	D	0	.	19.6223	0.95663	0.0:0.0:1.0:0.0	.	1347;1321;1361;1335;1361;1315	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1361;1315;1361;1361	ENSP00000263934:W1315L;ENSP00000366290:W1361L;ENSP00000366284:W1361L	ENSP00000263934:W1315L	W	+	2	0	KIF1B	10343600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.712000	0.92718	0.561000	0.74099	TGG		0.483	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	132	6	132	---	---	---	---
EXOSC10	5394	broad.mit.edu	37	1	11159800	11159800	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:11159800G>T	ENST00000376936.4	-	1	138	c.89C>A	c.(88-90)cCg>cAg	p.P30Q	EXOSC10_ENST00000544779.1_Missense_Mutation_p.P30Q|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000447600.1_RNA|RP4-635E18.6_ENST00000435388.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	30					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTCGGCGTCCGGGAAGCCTGG	0.677																																					Colon(179;105 1987 14326 27364 29542)	ENST00000544779.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(88-90)cCg>cAg		exosome component 10							35.0	40.0	39.0					1																	11159800		2203	4300	6503	SO:0001583	missense	5394				CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding	g.chr1:11159800G>T	BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.89C>A	1.37:g.11159800G>T	ENSP00000366135:p.Pro30Gln		Somatic				RP4-635E18.6_ENST00000447600.1_RNA|EXOSC10_ENST00000376936.4_Missense_Mutation_p.P30Q|RP4-635E18.6_ENST00000435388.1_RNA|EXOSC10_ENST00000304457.7_Missense_Mutation_p.P30Q	p.P30Q			WXS	Illumina GAIIx	Phase_I	Q01780	EXOSX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)	1	94	-	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	30					B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	ENST00000376936.4	37	c.89C>A	CCDS30584.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390657	0.42410	.	.	ENSG00000171824	ENST00000376936;ENST00000304457;ENST00000544779	.	.	.	5.21	3.17	0.36434	.	0.732764	0.13937	N	0.352468	T	0.30135	0.0755	L	0.40543	1.245	0.27566	N	0.950034	B;B	0.30542	0.284;0.06	B;B	0.28011	0.085;0.024	T	0.17471	-1.0368	9	0.40728	T	0.16	-15.0891	5.5505	0.17087	0.1044:0.0:0.6173:0.2784	.	30;30	Q01780-2;Q01780	.;EXOSX_HUMAN	Q	30	.	ENSP00000307307:P30Q	P	-	2	0	EXOSC10	11082387	0.820000	0.29190	0.998000	0.56505	0.513000	0.34164	0.614000	0.24314	1.196000	0.43129	-0.439000	0.05793	CCG		0.677	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1	NM_001001998		4	52	4	52	---	---	---	---
PRDM2	7799	broad.mit.edu	37	1	14107222	14107222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:14107222C>A	ENST00000235372.7	+	8	3788	c.2932C>A	c.(2932-2934)Ccg>Acg	p.P978T	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	978	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACCCTGTCCCCCGGTATTAAC	0.607																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(2932-2934)Ccg>Acg		PR domain containing 2, with ZNF domain							128.0	122.0	124.0					1																	14107222		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107222C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2932C>A	1.37:g.14107222C>A	ENSP00000235372:p.Pro978Thr		Somatic				PRDM2_ENST00000311066.5_Missense_Mutation_p.P978T|PRDM2_ENST00000413440.1_Missense_Mutation_p.P777T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P777T	p.P978T	NM_012231.4	NP_036363.2	WXS	Illumina GAIIx	Phase_I	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	3788	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	978			Pro-rich.		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.2932C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027740	0.35797	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01854	4.75;4.6;4.62;4.62	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.03739	0.0106	M	0.63428	1.95	0.40206	D	0.977572	P;P;P	0.37731	0.473;0.473;0.607	B;B;B	0.34652	0.091;0.091;0.187	T	0.45249	-0.9274	10	0.42905	T	0.14	.	12.33	0.55033	0.0:0.9227:0.0:0.0773	.	836;978;978	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	T	978;978;978;777;777	ENSP00000235372:P978T;ENSP00000312352:P978T;ENSP00000411103:P777T;ENSP00000341621:P777T	ENSP00000235372:P978T	P	+	1	0	PRDM2	13979809	0.020000	0.18652	0.997000	0.53966	0.955000	0.61496	2.295000	0.43576	2.837000	0.97791	0.655000	0.94253	CCG		0.607	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		6	133	6	133	---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16534231	16534231	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:16534231C>A	ENST00000270747.3	-	4	872	c.736G>T	c.(736-738)Ggg>Tgg	p.G246W	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	246					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGGTCCCCGCTCATCTCT	0.667																																						ENST00000270747.3																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12						c.(736-738)Ggg>Tgg		Rho guanine nucleotide exchange factor (GEF) 19							51.0	55.0	53.0					1																	16534231		2203	4299	6502	SO:0001583	missense	128272				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr1:16534231C>A	BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.736G>T	1.37:g.16534231C>A	ENSP00000270747:p.Gly246Trp		Somatic					p.G246W	NM_153213.3	NP_694945.2	WXS	Illumina GAIIx	Phase_I	Q8IW93	ARHGJ_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)	4	872	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	246					A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	ENST00000270747.3	37	c.736G>T	CCDS170.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109418	0.37242	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.70749	-0.51;1.87	5.06	-1.83	0.07833	.	2.067370	0.02821	N	0.125595	T	0.47322	0.1439	N	0.08118	0	0.09310	N	1	P	0.40619	0.724	B	0.34779	0.189	T	0.39210	-0.9625	10	0.37606	T	0.19	.	6.5516	0.22438	0.1154:0.5224:0.0:0.3623	.	246	Q8IW93	ARHGJ_HUMAN	W	246	ENSP00000270747:G246W;ENSP00000396001:G246W	ENSP00000270747:G246W	G	-	1	0	ARHGEF19	16406818	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.287000	0.08388	-1.154000	0.02825	-1.134000	0.01955	GGG		0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006289.1	NM_153213		4	76	4	76	---	---	---	---
ARHGEF10L	55160	broad.mit.edu	37	1	18023820	18023820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:18023820C>A	ENST00000361221.3	+	29	3944	c.3785C>A	c.(3784-3786)cCg>cAg	p.P1262Q	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1262						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGCAGGCCCCGTGTGGGGAG	0.657																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(3784-3786)cCg>cAg		Rho guanine nucleotide exchange factor (GEF) 10-like							49.0	47.0	48.0					1																	18023820		2172	4262	6434	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:18023820C>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3785C>A	1.37:g.18023820C>A	ENSP00000355060:p.Pro1262Gln		Somatic				ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P1035Q|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1223Q|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P965Q	p.P1262Q	NM_018125.3	NP_060595	WXS	Illumina GAIIx	Phase_I	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	29	3944	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	1262					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.3785C>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	5.533	0.283291	0.10458	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000375415;ENST00000375408;ENST00000167825	T;T;T;T;T	0.58506	0.6;0.61;0.61;0.33;2.6	5.0	2.75	0.32379	.	0.478374	0.20211	N	0.096881	T	0.46347	0.1388	L	0.44542	1.39	0.09310	N	1	B;P;B;B;B;B	0.42039	0.362;0.769;0.242;0.288;0.284;0.187	B;B;B;B;B;B	0.42827	0.206;0.399;0.118;0.136;0.107;0.049	T	0.23476	-1.0187	10	0.27785	T	0.31	-15.3033	5.7986	0.18401	0.0:0.6328:0.1646:0.2026	.	1035;965;1023;1218;1223;1262	Q5VXI4;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;ARGAL_HUMAN	Q	1262;1223;1223;1035;965	ENSP00000355060:P1262Q;ENSP00000399401:P1223Q;ENSP00000364564:P1223Q;ENSP00000364557:P1035Q;ENSP00000167825:P965Q	ENSP00000167825:P965Q	P	+	2	0	ARHGEF10L	17896407	0.007000	0.16637	0.975000	0.42487	0.541000	0.35023	1.046000	0.30354	1.084000	0.41184	0.655000	0.94253	CCG		0.657	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		5	98	5	98	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19436655	19436655	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:19436655G>T	ENST00000375254.3	-	81	12067	c.12040C>A	c.(12040-12042)Ctc>Atc	p.L4014I	UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I|UBR4_ENST00000375267.2_Missense_Mutation_p.L4014I	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4014					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGGCACATGAGGGTAATGTTT	0.498																																						ENST00000375267.2																			0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(12040-12042)Ctc>Atc		ubiquitin protein ligase E3 component n-recognin 4							109.0	102.0	104.0					1																	19436655		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19436655G>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.12040C>A	1.37:g.19436655G>T	ENSP00000364403:p.Leu4014Ile		Somatic				UBR4_ENST00000375217.2_Missense_Mutation_p.L4007I|UBR4_ENST00000375254.3_Missense_Mutation_p.L4014I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3990I	p.L4014I			WXS	Illumina GAIIx	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	81	12043	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	4014					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.12040C>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564313	0.65651	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.73962	2.25	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.77675	-0.2499	10	0.62326	D	0.03	.	12.1834	0.54223	0.078:0.0:0.922:0.0	.	4014	Q5T4S7	UBR4_HUMAN	I	4014;4014;4007;3990	ENSP00000364403:L4014I;ENSP00000364416:L4014I;ENSP00000364365:L4007I;ENSP00000364374:L3990I	ENSP00000364365:L4007I	L	-	1	0	UBR4	19309242	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.463000	0.80869	2.793000	0.96121	0.655000	0.94253	CTC		0.498	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	96	5	96	---	---	---	---
MAP3K6	9064	broad.mit.edu	37	1	27690833	27690833	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:27690833C>A	ENST00000493901.1	-	5	796	c.557G>T	c.(556-558)cGg>cTg	p.R186L	MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L|MAP3K6_ENST00000374040.3_Missense_Mutation_p.R178L	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	186					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ACACAGCACCCGACCAGTGGC	0.652																																						ENST00000374040.3																			0				breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10						c.(532-534)cGg>cTg		mitogen-activated protein kinase kinase kinase 6							85.0	84.0	85.0					1																	27690833		2203	4300	6503	SO:0001583	missense	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27690833C>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.557G>T	1.37:g.27690833C>A	ENSP00000419591:p.Arg186Leu		Somatic				MAP3K6_ENST00000493901.1_Missense_Mutation_p.R186L|MAP3K6_ENST00000357582.2_Missense_Mutation_p.R186L	p.R178L			WXS	Illumina GAIIx	Phase_I	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	3	793	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	186					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	c.533G>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404730	0.83230	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.09630	2.96;2.96;2.96	5.82	4.91	0.64330	.	.	.	.	.	T	0.07548	0.0190	L	0.29908	0.895	0.35585	D	0.806565	P;P	0.41597	0.712;0.756	B;B	0.36092	0.138;0.217	T	0.35375	-0.9791	9	0.36615	T	0.2	.	8.1847	0.31333	0.0:0.7877:0.0:0.2123	.	178;186	O95382-3;O95382	.;M3K6_HUMAN	L	178;186;186	ENSP00000363152:R178L;ENSP00000419591:R186L;ENSP00000350195:R186L	ENSP00000350195:R186L	R	-	2	0	MAP3K6	27563420	0.998000	0.40836	0.987000	0.45799	0.987000	0.75469	2.594000	0.46189	1.470000	0.48102	0.655000	0.94253	CGG		0.652	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		4	89	4	89	---	---	---	---
SMPDL3B	27293	broad.mit.edu	37	1	28285189	28285189	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:28285189G>T	ENST00000373894.3	+	8	1399	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|XKR8_ENST00000373884.5_5'Flank|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	403					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TACTCTGCTGGGGTCTGCGAC	0.617																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1207-1209)gGg>gTg		sphingomyelin phosphodiesterase, acid-like 3B							100.0	87.0	91.0					1																	28285189		2203	4300	6503	SO:0001583	missense	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285189G>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1208G>T	1.37:g.28285189G>T	ENSP00000363001:p.Gly403Val		Somatic				SMPDL3B_ENST00000549094.1_Missense_Mutation_p.G355V|RP11-460I13.2_ENST00000448015.1_RNA	p.G403V	NM_014474.2	NP_055289.2	WXS	Illumina GAIIx	Phase_I	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1399	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	403					B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	ENST00000373894.3	37	c.1208G>T	CCDS30655.1	.	.	.	.	.	.	.	.	.	.	G	3.139	-0.176753	0.06380	.	.	ENSG00000130768	ENST00000373894;ENST00000549094;ENST00000412515	D;D	0.88277	-2.36;-2.36	4.98	-9.96	0.00443	.	5.071980	0.00397	N	0.000041	T	0.79112	0.4391	L	0.34521	1.04	0.09310	N	1	B;B	0.31485	0.325;0.218	B;B	0.29862	0.108;0.035	T	0.68070	-0.5506	10	0.31617	T	0.26	10.4297	4.8422	0.13496	0.2657:0.4576:0.0902:0.1865	.	355;403	F8VWW8;Q92485	.;ASM3B_HUMAN	V	403;355;329	ENSP00000363001:G403V;ENSP00000449450:G355V	ENSP00000363001:G403V	G	+	2	0	SMPDL3B	28157776	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.124000	0.00149	-5.014000	0.00024	-0.305000	0.09177	GGG		0.617	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		7	121	7	121	---	---	---	---
KIAA0319L	79932	broad.mit.edu	37	1	35916055	35916055	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:35916055G>T	ENST00000325722.3	-	14	2352	c.2118C>A	c.(2116-2118)ccC>ccA	p.P706P	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.P143P	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	706	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCTCGTGGGTAGGGTAA	0.458																																						ENST00000325722.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34						c.(2116-2118)ccC>ccA		KIAA0319-like							145.0	124.0	131.0					1																	35916055		2203	4300	6503	SO:0001819	synonymous_variant	79932					cytoplasmic vesicle part|integral to membrane	protein binding	g.chr1:35916055G>T	AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2118C>A	1.37:g.35916055G>T			Somatic				KIAA0319L_ENST00000373266.4_Silent_p.P143P|KIAA0319L_ENST00000485551.1_5'UTR	p.P706P	NM_024874.4	NP_079150.3	WXS	Illumina GAIIx	Phase_I	Q8IZA0	K319L_HUMAN			14	2352	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	706			PKD 5.		B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Silent	SNP	ENST00000325722.3	37	c.2118C>A	CCDS390.1																																																																																				0.458	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012684.2	NM_024874		5	104	5	104	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37499693	37499693	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:37499693C>A	ENST00000373091.3	-	1	33	c.17G>T	c.(16-18)cGg>cTg	p.R6L	GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	6					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CCGGAGGCGCCGCCAGGGAGC	0.751																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(16-18)cGg>cTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						8.0	10.0	9.0					1																	37499693		2144	4211	6355	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37499693C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.17G>T	1.37:g.37499693C>A	ENSP00000362183:p.Arg6Leu		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.R6L	p.R6L	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	Q13003	GRIK3_HUMAN			1	33	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	6					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.17G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006481	0.35415	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.12039	2.77;2.72	3.71	3.71	0.42584	.	0.140233	0.29459	N	0.012081	T	0.06781	0.0173	N	0.08118	0	0.32146	N	0.584852	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.08006	-1.0743	10	0.33940	T	0.23	.	9.355	0.38161	0.0:0.7801:0.2199:0.0	.	6;6	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	6	ENSP00000362183:R6L;ENSP00000362185:R6L	ENSP00000362183:R6L	R	-	2	0	GRIK3	37272280	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.159000	0.31749	1.631000	0.50456	0.400000	0.26472	CGG		0.751	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	16	3	16	---	---	---	---
ZFP69B	65243	broad.mit.edu	37	1	40928286	40928286	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:40928286C>A	ENST00000411995.2	+	6	1005	c.630C>A	c.(628-630)ccC>ccA	p.P210P	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Silent_p.P108P	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	210					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GGCAAATCCCCCTGATGTGCA	0.413																																						ENST00000411995.2																			0											c.(628-630)ccC>ccA		ZFP69 zinc finger protein B							120.0	131.0	128.0					1																	40928286		2203	4300	6503	SO:0001819	synonymous_variant	65243							g.chr1:40928286C>A	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.630C>A	1.37:g.40928286C>A			Somatic				ZFP69B_ENST00000361584.3_Silent_p.P108P|ZFP69B_ENST00000484445.1_3'UTR	p.P210P	NM_023070.2	NP_075558.2	WXS	Illumina GAIIx	Phase_I					6	1005	+								Q5QPL4	Silent	SNP	ENST00000411995.2	37	c.630C>A	CCDS452.2																																																																																				0.413	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2	NM_023070		6	148	6	148	---	---	---	---
SZT2	23334	broad.mit.edu	37	1	43902871	43902871	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:43902871C>A	ENST00000562955.1	+	42	5893	c.5893C>A	c.(5893-5895)Cgt>Agt	p.R1965S	SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2022					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGTGCGCCCCGTGGGTACCT	0.572																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(5893-5895)Cgt>Agt		seizure threshold 2 homolog (mouse)							115.0	113.0	114.0					1																	43902871		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43902871C>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.5893C>A	1.37:g.43902871C>A	ENSP00000457168:p.Arg1965Ser		Somatic				SZT2_ENST00000372442.1_Missense_Mutation_p.R1123S	p.R1965S	NM_015284.3	NP_056099.3	WXS	Illumina GAIIx	Phase_I	Q5T011	SZT2_HUMAN			42	5893	+			2022					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.5893C>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	C	15.54	2.862934	0.51482	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	L	0.40543	1.245	0.25735	N	0.985221	D	0.89917	1.0	D	0.81914	0.995	T	0.54990	-0.8210	9	0.52906	T	0.07	.	14.9626	0.71169	0.1427:0.8573:0.0:0.0	.	1965	Q5T011-5	.	S	1123	.	ENSP00000361519:R1123S	R	+	1	0	SZT2	43675458	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	2.326000	0.43849	2.775000	0.95449	0.655000	0.94253	CGT		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		7	120	7	120	---	---	---	---
DMAP1	55929	broad.mit.edu	37	1	44680396	44680396	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:44680396C>A	ENST00000372289.2	+	3	482	c.219C>A	c.(217-219)ccC>ccA	p.P73P	DMAP1_ENST00000361745.6_Silent_p.P73P|DMAP1_ENST00000315913.5_Silent_p.P73P	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	73					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CACTGCTACCCAGTGACACTG	0.567																																						ENST00000372289.2																			0				breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(217-219)ccC>ccA		DNA methyltransferase 1 associated protein 1							90.0	82.0	85.0					1																	44680396		2203	4300	6503	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44680396C>A	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.219C>A	1.37:g.44680396C>A			Somatic				DMAP1_ENST00000315913.5_Silent_p.P73P|DMAP1_ENST00000361745.6_Silent_p.P73P	p.P73P	NM_019100.4	NP_061973.1	WXS	Illumina GAIIx	Phase_I	Q9NPF5	DMAP1_HUMAN			3	482	+	Acute lymphoblastic leukemia(166;0.155)		73					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.219C>A	CCDS509.1																																																																																				0.567	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		5	65	5	65	---	---	---	---
TMEM69	51249	broad.mit.edu	37	1	46159036	46159036	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46159036C>A	ENST00000372025.4	+	3	1360	c.203C>A	c.(202-204)cCc>cAc	p.P68H	RP11-767N6.7_ENST00000430643.1_RNA|TMEM69_ENST00000496366.1_3'UTR	NM_016486.3	NP_057570.2	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	68						integral component of membrane (GO:0016021)				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CATACATCCCCCTGCAGCTTT	0.468																																						ENST00000372025.4																			0				kidney(3)|lung(4)|ovary(1)	8						c.(202-204)cCc>cAc		transmembrane protein 69							234.0	233.0	233.0					1																	46159036		1962	4154	6116	SO:0001583	missense	51249					integral to membrane		g.chr1:46159036C>A	BC040289, BC013608	CCDS41325.1	1p34.1	2008-02-05	2005-08-17	2005-08-17	ENSG00000159596	ENSG00000159596			28035	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 154"""	C1orf154			Standard	NM_016486		Approved	FLJ21029	uc001cor.1	Q5SWH9	OTTHUMG00000040993	ENST00000372025.4:c.203C>A	1.37:g.46159036C>A	ENSP00000361095:p.Pro68His		Somatic				TMEM69_ENST00000496366.1_3'UTR	p.P68H	NM_016486.3	NP_057570.2	WXS	Illumina GAIIx	Phase_I	Q5SWH9	TMM69_HUMAN			3	1360	+	Acute lymphoblastic leukemia(166;0.155)		68					Q3SWW5|Q7Z2G0|Q9P0P9	Missense_Mutation	SNP	ENST00000372025.4	37	c.203C>A	CCDS41325.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873813	0.51695	.	.	ENSG00000159596	ENST00000372025	.	.	.	5.92	4.0	0.46444	.	0.435086	0.26944	N	0.021702	T	0.34687	0.0906	L	0.32530	0.975	0.09310	N	1	D	0.63880	0.993	P	0.53185	0.72	T	0.11275	-1.0594	9	0.52906	T	0.07	-10.2547	6.3581	0.21412	0.1457:0.6704:0.0:0.1839	.	68	Q5SWH9	TMM69_HUMAN	H	68	.	ENSP00000361095:P68H	P	+	2	0	TMEM69	45931623	0.000000	0.05858	0.992000	0.48379	0.891000	0.51852	0.123000	0.15708	1.524000	0.49035	0.561000	0.74099	CCC		0.468	TMEM69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098390.1	NM_016486		10	407	10	407	---	---	---	---
FAAH	2166	broad.mit.edu	37	1	46874198	46874198	+	Missense_Mutation	SNP	C	C	A	rs202117973		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:46874198C>A	ENST00000243167.8	+	8	1103	c.1019C>A	c.(1018-1020)cCg>cAg	p.P340Q	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	340					fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ATGCCCTCCCCGGCCATGAGG	0.617																																						ENST00000243167.8																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22						c.(1018-1020)cCg>cAg		fatty acid amide hydrolase	Propofol(DB00818)|Thiopental(DB00599)						181.0	191.0	188.0					1																	46874198		2203	4300	6503	SO:0001583	missense	2166				fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	g.chr1:46874198C>A	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1019C>A	1.37:g.46874198C>A	ENSP00000243167:p.Pro340Gln		Somatic				FAAH_ENST00000493735.1_3'UTR	p.P340Q	NM_001441.2	NP_001432.2	WXS	Illumina GAIIx	Phase_I	O00519	FAAH1_HUMAN			8	1103	+	Acute lymphoblastic leukemia(166;0.155)		340					D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	c.1019C>A	CCDS535.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214618	0.95104	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.69175	-0.38	5.4	5.4	0.78164	Amidase signature domain (2);	0.000000	0.85682	D	0.000000	D	0.87904	0.6295	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91307	0.5071	10	0.87932	D	0	-12.4092	19.1897	0.93660	0.0:1.0:0.0:0.0	.	340	O00519	FAAH1_HUMAN	Q	340;47	ENSP00000243167:P340Q	ENSP00000243167:P340Q	P	+	2	0	FAAH	46646785	1.000000	0.71417	0.991000	0.47740	0.997000	0.91878	7.463000	0.80869	2.548000	0.85928	0.655000	0.94253	CCG		0.617	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021443.1	NM_001441		8	298	8	298	---	---	---	---
CYP4X1	260293	broad.mit.edu	37	1	47514236	47514236	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:47514236G>T	ENST00000371901.3	+	10	1457		c.e10-1		CYP4X1_ENST00000538609.1_Splice_Site	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TCCTTTCTTAGGGATCACCGT	0.428																																						ENST00000371901.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.e10-1		cytochrome P450, family 4, subfamily X, polypeptide 1							211.0	227.0	221.0					1																	47514236		2203	4300	6503	SO:0001630	splice_region_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47514236G>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1208-1G>T	1.37:g.47514236G>T			Somatic				CYP4X1_ENST00000538609.1_Splice_Site		NM_178033.1	NP_828847.1	WXS	Illumina GAIIx	Phase_I	Q8N118	CP4X1_HUMAN			10	1457	+								G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Splice_Site	SNP	ENST00000371901.3	37		CCDS544.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960634	0.34565	.	.	ENSG00000186377	ENST00000538609;ENST00000371901	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6467	0.91413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP4X1	47286823	1.000000	0.71417	0.996000	0.52242	0.084000	0.17831	7.885000	0.87282	2.711000	0.92665	0.655000	0.94253	.		0.428	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	NM_178033	Intron	8	334	8	334	---	---	---	---
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371823.4	+	3	541	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|RP11-567C20.2_ENST00000442477.1_RNA|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371824.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398																																						ENST00000371824.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(316-318)aCt>aTt		ELAV like neuron-specific RNA binding protein 4							100.0	92.0	95.0					1																	50642827		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50642827C>T	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.317C>T	1.37:g.50642827C>T	ENSP00000360888:p.Thr106Ile		Somatic				ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I	p.T106I			WXS	Illumina GAIIx	Phase_I	P26378	ELAV4_HUMAN			3	574	+			106			RRM 1.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.317C>T	CCDS553.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202610	0.58234	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.41027	1.25	0.80722	D	1	B;P;P;B;B;B;B	0.43607	0.127;0.69;0.812;0.127;0.104;0.059;0.127	B;B;B;B;B;B;B	0.43413	0.092;0.419;0.294;0.092;0.055;0.057;0.092	T	0.00534	-1.1684	10	0.66056	D	0.02	.	19.5916	0.95514	0.0:1.0:0.0:0.0	.	111;111;106;106;123;106;109	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	I	109;106;123;106;106;111;111	ENSP00000399939:T109I;ENSP00000360892:T106I;ENSP00000349594:T123I;ENSP00000360889:T106I;ENSP00000360888:T106I;ENSP00000360886:T111I;ENSP00000360884:T111I	ENSP00000349594:T123I	T	+	2	0	ELAVL4	50415414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.273000	0.78527	2.861000	0.98227	0.655000	0.94253	ACT		0.398	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1	NM_021952		22	47	22	47	---	---	---	---
LRP8	7804	broad.mit.edu	37	1	53716447	53716447	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:53716447G>T	ENST00000306052.6	-	17	2692	c.2591C>A	c.(2590-2592)cCa>cAa	p.P864Q	LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q|LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	864					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CCTGTAGACTGGGTTGTCAAA	0.463																																						ENST00000306052.6																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						c.(2590-2592)cCa>cAa		low density lipoprotein receptor-related protein 8, apolipoprotein e receptor							345.0	287.0	307.0					1																	53716447		2203	4300	6503	SO:0001583	missense	7804				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	g.chr1:53716447G>T	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2591C>A	1.37:g.53716447G>T	ENSP00000303634:p.Pro864Gln		Somatic				LRP8_ENST00000354412.3_Missense_Mutation_p.P660Q|LRP8_ENST00000465675.1_Missense_Mutation_p.P417Q|LRP8_ENST00000371454.2_Missense_Mutation_p.P864Q|LRP8_ENST00000347547.2_Missense_Mutation_p.P694Q	p.P864Q	NM_004631.4	NP_004622.2	WXS	Illumina GAIIx	Phase_I	Q14114	LRP8_HUMAN			17	2692	-			864					B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	c.2591C>A	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138170	0.94560	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79	5.41	5.41	0.78517	.	.	.	.	.	T	0.59418	0.2192	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.997;1.0;1.0	T	0.66670	-0.5865	9	0.87932	D	0	.	19.1903	0.93663	0.0:0.0:1.0:0.0	.	417;660;694;864;864;417	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	Q	864;864;417;660;694	ENSP00000303634:P864Q;ENSP00000360509:P864Q;ENSP00000437009:P417Q;ENSP00000346391:P660Q;ENSP00000334522:P694Q	ENSP00000303634:P864Q	P	-	2	0	LRP8	53489035	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	9.855000	0.99526	2.524000	0.85096	0.557000	0.71058	CCA		0.463	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631		5	80	5	80	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65138882	65138882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:65138882C>A	ENST00000371073.2	+	18	2552	c.2552C>A	c.(2551-2553)cCg>cAg	p.P851Q	CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	851	Cache 2.				calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GTGGCGCACCCGACTCTCATC	0.483																																						ENST00000371073.2																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2551-2553)cCg>cAg		cache domain containing 1							190.0	196.0	194.0					1																	65138882		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65138882C>A	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2552C>A	1.37:g.65138882C>A	ENSP00000360113:p.Pro851Gln		Somatic				CACHD1_ENST00000290039.5_Missense_Mutation_p.P800Q|CACHD1_ENST00000495994.1_3'UTR	p.P851Q			WXS	Illumina GAIIx	Phase_I	Q5VU97	CAHD1_HUMAN			18	2552	+			851			Cache 2.		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2552C>A		.	.	.	.	.	.	.	.	.	.	C	18.93	3.727715	0.69074	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.28454	1.61;1.63	5.75	5.75	0.90469	Cache (1);	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56811	-0.7917	10	0.72032	D	0.01	-16.8633	19.949	0.97192	0.0:1.0:0.0:0.0	.	851	Q5VU97	CAHD1_HUMAN	Q	851;800	ENSP00000360113:P851Q;ENSP00000290039:P800Q	ENSP00000290039:P800Q	P	+	2	0	CACHD1	64911470	1.000000	0.71417	0.965000	0.40720	0.144000	0.21451	7.380000	0.79704	2.706000	0.92434	0.655000	0.94253	CCG		0.483	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		5	207	5	207	---	---	---	---
WDR78	79819	broad.mit.edu	37	1	67313297	67313297	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:67313297C>A	ENST00000371026.3	-	8	1216	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D	WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	387					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGTGGTCTTCCTCATCTTCAT	0.308																																						ENST00000371026.3																			0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(1159-1161)gaG>gaT		WD repeat domain 78							84.0	86.0	85.0					1																	67313297		2203	4300	6503	SO:0001583	missense	79819							g.chr1:67313297C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1161G>T	1.37:g.67313297C>A	ENSP00000360065:p.Glu387Asp		Somatic				WDR78_ENST00000431318.1_Missense_Mutation_p.E133D|WDR78_ENST00000371023.3_Missense_Mutation_p.E387D	p.E387D	NM_024763.4	NP_079039.4	WXS	Illumina GAIIx	Phase_I	Q5VTH9	WDR78_HUMAN			8	1216	-			387					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.1161G>T	CCDS635.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292666	0.23564	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023	T;T;T;T	0.69175	0.28;-0.35;-0.38;2.01	5.03	0.85	0.18980	.	0.161679	0.37304	N	0.002160	T	0.40094	0.1103	M	0.69823	2.125	0.31409	N	0.675731	B;B;B	0.14805	0.008;0.011;0.005	B;B;B	0.16289	0.015;0.014;0.01	T	0.16689	-1.0394	10	0.44086	T	0.13	-32.1297	4.7374	0.12995	0.1343:0.2769:0.0:0.5888	.	133;387;387	Q5VTH9-3;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	D	387;133;153;387	ENSP00000360065:E387D;ENSP00000393182:E133D;ENSP00000433682:E153D;ENSP00000360062:E387D	ENSP00000360062:E387D	E	-	3	2	WDR78	67085885	0.981000	0.34729	0.997000	0.53966	0.569000	0.35902	0.100000	0.15231	0.228000	0.21019	0.455000	0.32223	GAG		0.308	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	NM_024763		5	68	5	68	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74575235	74575235	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:74575235G>T	ENST00000395089.1	-	4	709	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P237H			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(709-711)cCt>cAt		leucine-rich repeats and IQ motif containing 3							104.0	88.0	93.0					1																	74575235		1786	4051	5837	SO:0001583	missense	127255							g.chr1:74575235G>T	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.710C>A	1.37:g.74575235G>T	ENSP00000378524:p.Pro237His		Somatic				LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129H|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P237H	p.P237H	NM_001105659.1	NP_001099129.1	WXS	Illumina GAIIx	Phase_I	A6PVS8	LRIQ3_HUMAN			5	901	-			237			IQ.		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.710C>A	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	8.174	0.792260	0.16258	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.31769	3.03;3.03;1.48	3.83	-2.15	0.07102	.	40.222200	0.00357	N	0.000021	T	0.07683	0.0193	L	0.31294	0.92	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.21042	-1.0257	10	0.27785	T	0.31	.	7.1473	0.25591	0.0991:0.0:0.2253:0.6756	.	237	A6PVS8	LRIQ3_HUMAN	H	237;237;129;237	ENSP00000378524:P237H;ENSP00000346414:P237H;ENSP00000359946:P129H	ENSP00000346414:P237H	P	-	2	0	LRRIQ3	74347823	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.532000	0.06164	-0.404000	0.07610	0.585000	0.79938	CCT		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		6	107	6	107	---	---	---	---
ST6GALNAC5	81849	broad.mit.edu	37	1	77510163	77510163	+	Missense_Mutation	SNP	G	G	T	rs200875685		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:77510163G>T	ENST00000477717.1	+	3	771	c.536G>T	c.(535-537)cGg>cTg	p.R179L		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	179					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TACATGCGGCGGGACGGCAAG	0.602																																						ENST00000477717.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						c.(535-537)cGg>cTg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5							80.0	77.0	78.0					1																	77510163		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510163G>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.536G>T	1.37:g.77510163G>T	ENSP00000417583:p.Arg179Leu		Somatic					p.R179L	NM_030965.1	NP_112227.1	WXS	Illumina GAIIx	Phase_I	Q9BVH7	SIA7E_HUMAN			3	771	+			179					B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.536G>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	G	33	5.277218	0.95459	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30981	1.51	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.75777	2.31	0.80722	D	1	D	0.61697	0.99	D	0.65140	0.932	T	0.50457	-0.8826	10	0.56958	D	0.05	-19.0778	19.307	0.94167	0.0:0.0:1.0:0.0	.	179	Q9BVH7	SIA7E_HUMAN	L	179;89	ENSP00000417583:R179L	ENSP00000436263:R179L	R	+	2	0	ST6GALNAC5	77282751	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	6.634000	0.74290	2.543000	0.85770	0.655000	0.94253	CGG		0.602	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		5	114	5	114	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85655748	85655748	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:85655748G>T	ENST00000341460.5	-	2	1482	c.1433C>A	c.(1432-1434)cCt>cAt	p.P478H		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	478					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACCTGCAAAAGGAGATTTCAA	0.343																																						ENST00000341460.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20						c.(1432-1434)cCt>cAt		synapse defective 1, Rho GTPase, homolog 2 (C. elegans)							217.0	208.0	211.0					1																	85655748		1886	4101	5987	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85655748G>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1433C>A	1.37:g.85655748G>T	ENSP00000340594:p.Pro478His		Somatic					p.P478H	NM_032184.1	NP_115560.1	WXS	Illumina GAIIx	Phase_I	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	2	1482	-			478					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1433C>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	7.959	0.746560	0.15710	.	.	ENSG00000097096	ENST00000341460	T	0.06687	3.27	5.62	3.75	0.43078	.	0.464198	0.21703	N	0.070389	T	0.02727	0.0082	L	0.47716	1.5	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37619	-0.9698	10	0.72032	D	0.01	.	6.6475	0.22943	0.0682:0.1299:0.667:0.1349	.	478;478	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	H	478	ENSP00000340594:P478H	ENSP00000340594:P478H	P	-	2	0	SYDE2	85428336	0.015000	0.18098	0.948000	0.38648	0.813000	0.45954	0.989000	0.29629	0.883000	0.36040	-0.175000	0.13238	CCT		0.343	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			6	169	6	169	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109538407	109538407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:109538407C>A	ENST00000369962.3	-	8	1708	c.1486G>T	c.(1486-1488)Gag>Tag	p.E496*	WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000357672.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*			O94967	WDR47_HUMAN	WD repeat domain 47	496					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GCTGATACCTCATTACCAAGG	0.353																																						ENST00000357672.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20						c.(1402-1404)Gag>Tag		WD repeat domain 47							174.0	173.0	173.0					1																	109538407		2203	4296	6499	SO:0001587	stop_gained	22911							g.chr1:109538407C>A	AB020700	CCDS30787.1, CCDS44186.1, CCDS44187.1	1p13.3	2013-01-09			ENSG00000085433	ENSG00000085433		"""WD repeat domain containing"""	29141	protein-coding gene	gene with protein product		615734				10048485	Standard	NM_014969		Approved	KIAA0893	uc001dwl.3	O94967	OTTHUMG00000011734	ENST00000369962.3:c.1486G>T	1.37:g.109538407C>A	ENSP00000358979:p.Glu496*		Somatic				WDR47_ENST00000369962.3_Nonsense_Mutation_p.E496*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.E468*|WDR47_ENST00000369965.4_Nonsense_Mutation_p.E497*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.E504*	p.E468*			WXS	Illumina GAIIx	Phase_I	O94967	WDR47_HUMAN		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)	7	1777	-		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)	496			Gln-rich.		A8MX09|Q5TYV7|Q5TYV8|Q5TYV9|Q8IXT7|Q8IYU9	Nonsense_Mutation	SNP	ENST00000369962.3	37	c.1402G>T	CCDS44187.1	.	.	.	.	.	.	.	.	.	.	C	40	7.933654	0.98568	.	.	ENSG00000085433	ENST00000400794;ENST00000369962;ENST00000361054;ENST00000369965;ENST00000357672	.	.	.	5.53	5.53	0.82687	.	0.217616	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-1.1492	19.8113	0.96547	0.0:1.0:0.0:0.0	.	.	.	.	X	504;496;468;497;468	.	ENSP00000350301:E468X	E	-	1	0	WDR47	109339930	1.000000	0.71417	0.999000	0.59377	0.677000	0.39632	6.892000	0.75644	2.746000	0.94184	0.561000	0.74099	GAG		0.353	WDR47-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032414.2	NM_014969		6	194	6	194	---	---	---	---
CYB561D1	284613	broad.mit.edu	37	1	110037802	110037802	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:110037802G>T	ENST00000420578.2	+	2	226	c.186G>T	c.(184-186)gcG>gcT	p.A62A	CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000430195.2_Splice_Site_p.R97L			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	62	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGGCCTTGGCGGTGAGTTTAG	0.493																																						ENST00000430195.2																			0				breast(1)|large_intestine(3)|prostate(1)	5						c.(289-291)cGg>cTg		cytochrome b561 family, member D1							325.0	299.0	308.0					1																	110037802		2203	4300	6503	SO:0001630	splice_region_variant	284613				electron transport chain|transport	integral to membrane	metal ion binding	g.chr1:110037802G>T	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.186+1G>T	1.37:g.110037802G>T			Somatic				CYB561D1_ENST00000393709.3_Intron|CYB561D1_ENST00000369868.3_Intron|CYB561D1_ENST00000528785.1_Splice_Site_p.A62A|CYB561D1_ENST00000527072.1_Intron|CYB561D1_ENST00000310611.4_Splice_Site_p.R97L|CYB561D1_ENST00000496961.1_Splice_Site_p.A62A|CYB561D1_ENST00000533024.1_Splice_Site_p.R18L|CYB561D1_ENST00000420578.2_Splice_Site_p.A62A	p.R97L			WXS	Illumina GAIIx	Phase_I	Q8N8Q1	C56D1_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)	3	315	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	0			Cytochrome b561.		B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	Splice_Site	SNP	ENST00000420578.2	37	c.290G>T	CCDS800.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788359	0.31593	.	.	ENSG00000174151	ENST00000533024;ENST00000310611;ENST00000430195	.	.	.	4.99	4.08	0.47627	.	.	.	.	.	T	0.39172	0.1068	.	.	.	0.80722	D	1	P;B	0.37330	0.59;0.275	B;B	0.39771	0.263;0.309	T	0.48068	-0.9067	7	0.87932	D	0	.	9.4458	0.38697	0.0956:0.0:0.9044:0.0	.	97;97	Q5T6C3;Q8N8Q1-2	.;.	L	18;97;97	.	ENSP00000309324:R97L	R	+	2	0	CYB561D1	109839325	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	1.577000	0.36515	1.322000	0.45245	-0.126000	0.14955	CGT;CGT;CGG		0.493	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	Silent	7	291	7	291	---	---	---	---
OLFML3	56944	broad.mit.edu	37	1	114524121	114524121	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:114524121C>A	ENST00000320334.4	+	3	1025	c.951C>A	c.(949-951)ccC>ccA	p.P317P	OLFML3_ENST00000393300.2_Silent_p.P297P|OLFML3_ENST00000369551.1_Silent_p.P297P|OLFML3_ENST00000491700.1_3'UTR	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	317	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGTCCCAGAGAGAATG	0.572																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(889-891)ccC>ccA		olfactomedin-like 3							90.0	76.0	81.0					1																	114524121		2203	4300	6503	SO:0001819	synonymous_variant	56944				multicellular organismal development	extracellular region		g.chr1:114524121C>A	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.951C>A	1.37:g.114524121C>A			Somatic				OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000320334.4_Silent_p.P317P|OLFML3_ENST00000393300.2_Silent_p.P297P	p.P297P			WXS	Illumina GAIIx	Phase_I	Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1179	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	317			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Silent	SNP	ENST00000320334.4	37	c.891C>A	CCDS870.1																																																																																				0.572	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		5	72	5	72	---	---	---	---
LOC645166	645166	broad.mit.edu	37	1	148932875	148932875	+	lincRNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:148932875G>T	ENST00000539543.1	+	0	131					NR_027355.2																						GGTGGGAGACGGGTGAGGTAC	0.632																																						ENST00000539543.1																			0																																																			645166							g.chr1:148932875G>T																													1.37:g.148932875G>T			Somatic						NR_027355.2		WXS	Illumina GAIIx	Phase_I					0	131	+									RNA	SNP	ENST00000539543.1	37																																																																																						0.632	RP11-14N7.2-201	KNOWN	basic	lincRNA	lincRNA				6	155	6	155	---	---	---	---
BNIPL	149428	broad.mit.edu	37	1	151011338	151011338	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151011338C>A	ENST00000368931.3	+	4	425	c.269C>A	c.(268-270)cCa>cAa	p.P90Q	BNIPL_ENST00000295294.7_Missense_Mutation_p.P8Q	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	90					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTCTGCCCCAGAGTTGCGG	0.577																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(22-24)cCa>cAa		BCL2/adenovirus E1B 19kD interacting protein like							69.0	67.0	68.0					1																	151011338		2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011338C>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.269C>A	1.37:g.151011338C>A	ENSP00000357927:p.Pro90Gln		Somatic				BNIPL_ENST00000368931.3_Missense_Mutation_p.P90Q	p.P8Q	NM_001159642.1	NP_001153114.1	WXS	Illumina GAIIx	Phase_I	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	632	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		90					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.23C>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435602	0.62955	.	.	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.70749	0.53;0.48;-0.51	5.15	4.24	0.50183	.	0.058160	0.64402	D	0.000001	T	0.81245	0.4782	M	0.89095	3.005	0.40167	D	0.977136	D	0.89917	1.0	D	0.97110	1.0	D	0.83848	0.0261	10	0.52906	T	0.07	.	11.0577	0.47929	0.1847:0.8153:0.0:0.0	.	90	Q7Z465	BNIPL_HUMAN	Q	90;88;8;8	ENSP00000357927:P90Q;ENSP00000355333:P88Q;ENSP00000295294:P8Q	ENSP00000295294:P8Q	P	+	2	0	BNIPL	149277962	1.000000	0.71417	0.975000	0.42487	0.813000	0.45954	2.844000	0.48246	1.397000	0.46682	0.563000	0.77884	CCA		0.577	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		5	62	5	62	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151204728	151204728	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151204728G>T	ENST00000368888.4	+	6	795	c.373G>T	c.(373-375)Ggg>Tgg	p.G125W	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000414290.2_5'Flank|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.G113W	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	125	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCACAGTGAAGGGAGCAACCT	0.522																																					Pancreas(80;36 1443 2325 16095 21302)	ENST00000409426.1																			0				breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5						c.(337-339)Ggg>Tgg		phosphatidylinositol-4-phosphate 5-kinase, type I, alpha							136.0	128.0	131.0					1																	151204728		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151204728G>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.373G>T	1.37:g.151204728G>T	ENSP00000357883:p.Gly125Trp		Somatic				PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G113W|PIP5K1A_ENST00000368888.4_Missense_Mutation_p.G125W|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G112W	p.G113W			WXS	Illumina GAIIx	Phase_I	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		5	782	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		125			PIPK.		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.337G>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248474	0.80024	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.22	4.31	0.51392	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	H	0.98754	4.32	0.80722	D	1	P;D;B;D	0.89917	0.511;1.0;0.377;1.0	P;D;B;D	0.79108	0.573;0.992;0.295;0.992	T	0.80795	-0.1223	10	0.87932	D	0	.	13.6835	0.62502	0.0748:0.0:0.9252:0.0	.	113;112;125;112	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	W	112;113;113;112;125	ENSP00000271663:G112W;ENSP00000386432:G113W;ENSP00000415648:G113W;ENSP00000357885:G112W;ENSP00000357883:G125W	ENSP00000271663:G112W	G	+	1	0	PIP5K1A	149471352	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.606000	0.98325	1.464000	0.47987	0.479000	0.44913	GGG		0.522	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		6	151	6	151	---	---	---	---
PI4KB	5298	broad.mit.edu	37	1	151262651	151262651	+	IGR	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:151262651C>A	ENST00000368873.1	-	0	3340				ZNF687_ENST00000368879.2_Silent_p.P1006P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTCCGCCCCCAGCCTGAGGC	0.602																																					Colon(154;765 1838 9854 28443 37492)	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.(3016-3018)ccC>ccA		zinc finger protein 687							106.0	98.0	101.0					1																	151262651		2203	4300	6503	SO:0001628	intergenic_variant	57592				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr1:151262651C>A	AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348		1.37:g.151262651C>A			Somatic					p.P1006P	NM_020832.1	NP_065883.1	WXS	Illumina GAIIx	Phase_I	Q8N1G0	ZN687_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		7	3116	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		1006					B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	ENST00000368873.1	37	c.3018C>A		.	.	.	.	.	.	.	.	.	.	C	7.664	0.685469	0.14973	.	.	ENSG00000143373	ENST00000426871	T	0.27402	1.67	5.15	4.21	0.49690	.	0.000000	0.33895	U	0.004456	T	0.33702	0.0872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14504	-1.0470	7	0.54805	T	0.06	-18.9872	12.3842	0.55323	0.1755:0.8245:0.0:0.0	.	.	.	.	Q	609	ENSP00000398821:P609Q	ENSP00000398821:P609Q	P	+	2	0	ZNF687	149529275	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.080000	0.50112	1.334000	0.45468	0.467000	0.42956	CCA		0.602	PI4KB-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000034400.3	NM_002651		6	119	6	119	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152279709	152279709	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152279709C>A	ENST00000368799.1	-	3	7688	c.7653G>T	c.(7651-7653)caG>caT	p.Q2551H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2551	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTCCCTGGCCCACCT	0.587									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(7651-7653)caG>caT		filaggrin							189.0	207.0	201.0					1																	152279709		2200	4300	6500	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279709C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7653G>T	1.37:g.152279709C>A	ENSP00000357789:p.Gln2551His		Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.Q2551H	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7688	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2551			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7653G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	5.385	0.256224	0.10185	.	.	ENSG00000143631	ENST00000368799	T	0.05580	3.42	1.24	-0.0236	0.13942	.	.	.	.	.	T	0.02119	0.0066	L	0.61218	1.895	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.42032	-0.9475	9	0.42905	T	0.14	.	4.0942	0.09983	0.5834:0.4166:0.0:0.0	.	2551	P20930	FILA_HUMAN	H	2551	ENSP00000357789:Q2551H	ENSP00000357789:Q2551H	Q	-	3	2	FLG	150546333	0.716000	0.27956	0.003000	0.11579	0.010000	0.07245	0.628000	0.24522	-0.017000	0.14103	0.306000	0.20318	CAG		0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		8	324	8	324	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281407	152281407	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152281407G>T	ENST00000368799.1	-	3	5990	c.5955C>A	c.(5953-5955)tcC>tcA	p.S1985S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1985	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCACGAGAGGAAGACTCTG	0.577									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(5953-5955)tcC>tcA		filaggrin							552.0	442.0	479.0					1																	152281407		2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281407G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5955C>A	1.37:g.152281407G>T			Somatic				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S1985S	NM_002016.1	NP_002007.1	WXS	Illumina GAIIx	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5990	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1985			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.5955C>A	CCDS30860.1																																																																																				0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		11	647	11	647	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382841	152382841	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:152382841G>T	ENST00000271835.3	-	3	779	c.717C>A	c.(715-717)acC>acA	p.T239T	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	239	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGTCTGGGTGGCACCTG	0.597																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(715-717)acC>acA		cornulin							246.0	249.0	248.0					1																	152382841		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382841G>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.717C>A	1.37:g.152382841G>T			Somatic				RP1-91G5.3_ENST00000411804.1_RNA	p.T239T	NM_016190.2	NP_057274.1	WXS	Illumina GAIIx	Phase_I	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	779	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		239			Gln-rich.		B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.717C>A	CCDS1010.1																																																																																				0.597	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		9	321	9	321	---	---	---	---
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318593	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153318593G>T	ENST00000359650.5	-	3	188	c.124C>A	c.(124-126)Cag>Aag	p.Q42K	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	42					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTC	0.453																																						ENST00000368739.3																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23						c.(124-126)Cag>Aag		peptidoglycan recognition protein 4							276.0	273.0	274.0					1																	153318593		2203	4300	6503	SO:0001583	missense	57115				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153318593G>T	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.124C>A	1.37:g.153318593G>T	ENSP00000352672:p.Gln42Lys		Somatic				PGLYRP4_ENST00000359650.5_Missense_Mutation_p.Q42K|PGLYRP4_ENST00000490266.1_5'UTR	p.Q42K			WXS	Illumina GAIIx	Phase_I	Q96LB8	PGRP4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	482	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		42					A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	c.124C>A	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587343	0.28268	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04809	3.57;3.55	3.4	0.191	0.15130	.	0.686315	0.11382	N	0.569703	T	0.01976	0.0062	L	0.32530	0.975	0.09310	N	1	D;D	0.58620	0.983;0.971	P;B	0.48840	0.592;0.388	T	0.44967	-0.9293	10	0.56958	D	0.05	.	5.4396	0.16500	0.0:0.1979:0.3974:0.4047	.	42;42	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	K	42	ENSP00000357728:Q42K;ENSP00000352672:Q42K	ENSP00000352672:Q42K	Q	-	1	0	PGLYRP4	151585217	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-0.101000	0.10973	0.042000	0.15717	0.462000	0.41574	CAG		0.453	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393		8	283	8	283	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153735803	153735803	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:153735803C>A	ENST00000318967.2	+	16	2299	c.1731C>A	c.(1729-1731)tcC>tcA	p.S577S	INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000456435.1_Silent_p.S371S	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	578					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)|snRNA processing (GO:0016180)	integrator complex (GO:0032039)|nucleus (GO:0005634)|SOSS complex (GO:0070876)				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGATGAGTCCCTGAGGGACA	0.512																																						ENST00000456435.1																			0				breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(1111-1113)tcC>tcA		integrator complex subunit 3							139.0	134.0	135.0					1																	153735803		2203	4300	6503	SO:0001819	synonymous_variant	65123				DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	g.chr1:153735803C>A	BX640950	CCDS1052.1	1q21.3	2012-03-16	2006-03-15	2006-03-15	ENSG00000143624	ENSG00000143624			26153	protein-coding gene	gene with protein product	"""sensor of single-strand DNA complex subunit A"""	611347	"""chromosome 1 open reading frame 60"""	C1orf60		16239144	Standard	NM_023015		Approved	FLJ21919, INT3, SOSS-A	uc001fct.3	Q68E01	OTTHUMG00000037089	ENST00000318967.2:c.1731C>A	1.37:g.153735803C>A			Somatic				INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.S577S|INTS3_ENST00000512605.1_Silent_p.S371S|INTS3_ENST00000318967.2_Silent_p.S577S	p.S371S			WXS	Illumina GAIIx	Phase_I	Q68E01	INT3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		16	2299	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		578					A8K1W0|B4DQC8|B4E3U9|D3DV57|Q4G0E5|Q5VUQ5|Q5VUQ6|Q5VUR0|Q5VUR1|Q68DJ1|Q69YR5|Q6AI57|Q6DKG7|Q6MZQ4|Q6MZZ9|Q8NC46|Q8TB23|Q9H6S9	Silent	SNP	ENST00000318967.2	37	c.1113C>A	CCDS1052.1																																																																																				0.512	INTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090045.2	NM_023015		6	139	6	139	---	---	---	---
NES	10763	broad.mit.edu	37	1	156640356	156640356	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156640356C>A	ENST00000368223.3	-	4	3756	c.3624G>T	c.(3622-3624)gaG>gaT	p.E1208D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1208	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCAGCTTCCTCTGACCCCA	0.647																																						ENST00000368223.3																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64						c.(3622-3624)gaG>gaT		nestin							79.0	78.0	78.0					1																	156640356		2203	4300	6503	SO:0001583	missense	10763				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	g.chr1:156640356C>A	X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3624G>T	1.37:g.156640356C>A	ENSP00000357206:p.Glu1208Asp		Somatic					p.E1208D	NM_006617.1	NP_006608.1	WXS	Illumina GAIIx	Phase_I	P48681	NEST_HUMAN			4	3756	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1208			Tail.		O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	c.3624G>T	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747045	0.69418	.	.	ENSG00000132688	ENST00000368223	D	0.88741	-2.42	3.95	0.789	0.18607	.	.	.	.	.	D	0.83096	0.5180	M	0.65498	2.005	0.09310	N	1	D	0.55172	0.97	P	0.48704	0.587	T	0.75010	-0.3468	9	0.87932	D	0	.	8.914	0.35570	0.0:0.7307:0.0:0.2693	.	1208	P48681	NEST_HUMAN	D	1208	ENSP00000357206:E1208D	ENSP00000357206:E1208D	E	-	3	2	NES	154906980	0.000000	0.05858	0.003000	0.11579	0.658000	0.38924	-1.155000	0.03163	-0.051000	0.13334	0.455000	0.32223	GAG		0.647	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2	NM_006617		6	134	6	134	---	---	---	---
INSRR	3645	broad.mit.edu	37	1	156811571	156811571	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:156811571C>A	ENST00000368195.3	-	20	3809	c.3413G>T	c.(3412-3414)cGg>cTg	p.R1138L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1138	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATACACGTCCCGAGTCATCCC	0.602																																						ENST00000368195.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3412-3414)cGg>cTg		insulin receptor-related receptor							124.0	114.0	118.0					1																	156811571		2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811571C>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3413G>T	1.37:g.156811571C>A	ENSP00000357178:p.Arg1138Leu		Somatic				NTRK1_ENST00000392302.2_Intron	p.R1138L	NM_014215.2	NP_055030.1	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			20	3809	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1138			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3413G>T	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707380	0.89018	.	.	ENSG00000027644	ENST00000368195	D	0.85088	-1.94	4.83	4.83	0.62350	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40385	N	0.001119	D	0.91529	0.7325	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92504	0.6011	9	0.87932	D	0	.	16.6498	0.85186	0.0:1.0:0.0:0.0	.	1138	P14616	INSRR_HUMAN	L	1138	ENSP00000357178:R1138L	ENSP00000357178:R1138L	R	-	2	0	INSRR	155078195	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.590000	0.82653	2.523000	0.85059	0.561000	0.74099	CGG		0.602	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		6	154	6	154	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158639501	158639501	+	Missense_Mutation	SNP	C	C	A	rs199638352		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158639501C>A	ENST00000368147.4	-	13	1855	c.1675G>T	c.(1675-1677)Ggg>Tgg	p.G559W		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	559					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.G559W(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGACATACCCCGTCACGGATA	0.433																																						ENST00000368147.4																			1	Substitution - Missense(1)	p.G559W(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(1675-1677)Ggg>Tgg		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							230.0	216.0	220.0					1																	158639501		1930	4136	6066	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158639501C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1675G>T	1.37:g.158639501C>A	ENSP00000357129:p.Gly559Trp		Somatic					p.G559W	NM_003126.2	NP_003117.2	WXS	Illumina GAIIx	Phase_I	P02549	SPTA1_HUMAN			13	1855	-	all_hematologic(112;0.0378)							Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1675G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.053759	0.36277	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.42900	0.96;0.96	4.72	-0.702	0.11265	.	1.586190	0.04485	N	0.378418	T	0.34308	0.0893	L	0.43152	1.355	0.31781	N	0.630853	D	0.61080	0.989	P	0.62813	0.907	T	0.03240	-1.1057	10	0.66056	D	0.02	.	5.2663	0.15601	0.0:0.4733:0.2723:0.2543	.	559	P02549	SPTA1_HUMAN	W	559	ENSP00000357130:G559W;ENSP00000357129:G559W	ENSP00000357129:G559W	G	-	1	0	SPTA1	156906125	0.012000	0.17670	0.024000	0.17045	0.235000	0.25334	-0.183000	0.09712	-0.195000	0.10382	0.655000	0.94253	GGG		0.433	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		7	259	7	259	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687669	158687669	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:158687669G>T	ENST00000368146.1	-	1	284	c.285C>A	c.(283-285)ccC>ccA	p.P95P	OR6K3_ENST00000368145.1_Silent_p.P79P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					AGAGCATCTTGGGAATGGTGG	0.453																																						ENST00000368146.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41						c.(283-285)ccC>ccA		olfactory receptor, family 6, subfamily K, member 3							153.0	159.0	157.0					1																	158687669		2203	4300	6503	SO:0001819	synonymous_variant	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687669G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.285C>A	1.37:g.158687669G>T			Somatic				OR6K3_ENST00000368145.1_Silent_p.P79P	p.P95P			WXS	Illumina GAIIx	Phase_I	Q8NGY3	OR6K3_HUMAN			1	284	-	all_hematologic(112;0.0378)		95					Q5VUV0|Q6IFR5	Silent	SNP	ENST00000368146.1	37	c.285C>A																																																																																					0.453	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				8	259	8	259	---	---	---	---
PEX19	5824	broad.mit.edu	37	1	160254884	160254884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:160254884C>A	ENST00000368072.5	-	1	52	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PEX19_ENST00000440949.3_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	11	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTTCGGCCCCGACACTACAG	0.632																																						ENST00000368072.5																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11						c.(31-33)Ggg>Tgg		peroxisomal biogenesis factor 19							76.0	75.0	75.0					1																	160254884		2203	4300	6503	SO:0001583	missense	5824							g.chr1:160254884C>A	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.31G>T	1.37:g.160254884C>A	ENSP00000357051:p.Gly11Trp		Somatic				PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000440949.3_5'UTR	p.G11W	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	WXS	Illumina GAIIx	Phase_I			BRCA - Breast invasive adenocarcinoma(70;0.111)		1	52	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)							D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.31G>T	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042059	0.55003	.	.	ENSG00000162735	ENST00000368072	.	.	.	4.82	2.88	0.33553	.	0.959429	0.08612	N	0.919883	T	0.11836	0.0288	N	0.14661	0.345	0.23657	N	0.997189	P	0.38335	0.627	B	0.40982	0.345	T	0.20974	-1.0259	9	0.72032	D	0.01	-0.1033	8.0876	0.30782	0.0:0.7517:0.1595:0.0888	.	11	P40855	PEX19_HUMAN	W	11	.	ENSP00000357051:G11W	G	-	1	0	PEX19	158521508	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.852000	0.27764	1.226000	0.43582	0.650000	0.86243	GGG		0.632	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		5	112	5	112	---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162313729	162313729	+	Silent	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G|MIR556_ENST00000384996.1_RNA	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587																																						ENST00000361897.5																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32						c.(556-558)ggA>ggG		nitric oxide synthase 1 (neuronal) adaptor protein							118.0	105.0	109.0					1																	162313729		2203	4300	6503	SO:0001819	synonymous_variant	9722				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding	g.chr1:162313729A>G	AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.558A>G	1.37:g.162313729A>G			Somatic				NOS1AP_ENST00000530878.1_Silent_p.G181G	p.G186G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	WXS	Illumina GAIIx	Phase_I	O75052	CAPON_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0537)		6	960	+	all_hematologic(112;0.203)		186			PID.		B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	ENST00000361897.5	37	c.558A>G	CCDS1237.1																																																																																				0.587	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060555.2	NM_014697		3	66	3	66	---	---	---	---
RCSD1	92241	broad.mit.edu	37	1	167663439	167663439	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:167663439C>A	ENST00000367854.3	+	5	705	c.374C>A	c.(373-375)cCc>cAc	p.P125H	RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	125					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTTCTACCCCCAGCAGCCCT	0.587																																						ENST00000367854.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24						c.(373-375)cCc>cAc		RCSD domain containing 1							73.0	69.0	70.0					1																	167663439		2203	4300	6503	SO:0001583	missense	92241							g.chr1:167663439C>A	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.374C>A	1.37:g.167663439C>A	ENSP00000356828:p.Pro125His		Somatic				RCSD1_ENST00000537350.1_Missense_Mutation_p.P95H	p.P125H	NM_052862.3	NP_443094.3	WXS	Illumina GAIIx	Phase_I	Q6JBY9	CPZIP_HUMAN			5	705	+	all_hematologic(923;0.215)		125					B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	c.374C>A	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435473	0.83885	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.56103	0.51;0.48	5.09	5.09	0.68999	.	0.058726	0.64402	D	0.000001	T	0.67287	0.2877	M	0.66939	2.045	0.39809	D	0.972678	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.70096	-0.4966	9	0.66056	D	0.02	-6.7366	18.8744	0.92328	0.0:1.0:0.0:0.0	.	95;125	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	H	125;101;95	ENSP00000356828:P125H;ENSP00000439409:P95H	ENSP00000355291:P101H	P	+	2	0	RCSD1	165930063	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.208000	0.65203	2.525000	0.85131	0.655000	0.94253	CCC		0.587	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085451.1	NM_052862		6	74	6	74	---	---	---	---
LAMC1	3915	broad.mit.edu	37	1	183072514	183072514	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183072514C>A	ENST00000258341.4	+	2	727	c.470C>A	c.(469-471)cCg>cAg	p.P157Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	157	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						ACCAGCCGCCCGGAGAGCTTT	0.493																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(469-471)cCg>cAg		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						99.0	109.0	106.0					1																	183072514		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183072514C>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.470C>A	1.37:g.183072514C>A	ENSP00000258341:p.Pro157Gln		Somatic					p.P157Q	NM_002293.3	NP_002284.3	WXS	Illumina GAIIx	Phase_I	P11047	LAMC1_HUMAN			2	727	+			157			Laminin N-terminal.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.470C>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447472	0.84101	.	.	ENSG00000135862	ENST00000258341	D	0.87412	-2.25	5.34	5.34	0.76211	Laminin, N-terminal (3);	0.051191	0.85682	D	0.000000	D	0.95799	0.8633	H	0.95780	3.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96939	0.9686	10	0.87932	D	0	.	19.0561	0.93066	0.0:1.0:0.0:0.0	.	157;157	P11047;Q6NVY8	LAMC1_HUMAN;.	Q	157	ENSP00000258341:P157Q	ENSP00000258341:P157Q	P	+	2	0	LAMC1	181339137	1.000000	0.71417	0.956000	0.39512	0.517000	0.34286	7.556000	0.82233	2.501000	0.84356	0.655000	0.94253	CCG		0.493	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		5	213	5	213	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183177030	183177030	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183177030G>T	ENST00000264144.4	+	2	159	c.94G>T	c.(94-96)Ggg>Tgg	p.G32W	LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	32	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGATTGCAATGGGAAGTCCAG	0.423																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(94-96)Ggg>Tgg		laminin, gamma 2							141.0	135.0	137.0					1																	183177030		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183177030G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.94G>T	1.37:g.183177030G>T	ENSP00000264144:p.Gly32Trp		Somatic				LAMC2_ENST00000493293.1_Missense_Mutation_p.G32W	p.G32W	NM_005562.2	NP_005553.2	WXS	Illumina GAIIx	Phase_I	Q13753	LAMC2_HUMAN			2	159	+			32			Laminin EGF-like 1.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.94G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511794	0.64522	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.67523	-0.27;-0.27	4.7	4.7	0.59300	EGF-like, laminin (3);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.87277	0.6137	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91613	0.5304	10	0.87932	D	0	.	17.2649	0.87084	0.0:0.0:1.0:0.0	.	32;32	Q13753;Q13753-2	LAMC2_HUMAN;.	W	32	ENSP00000432063:G32W;ENSP00000264144:G32W	ENSP00000264144:G32W	G	+	1	0	LAMC2	181443653	1.000000	0.71417	0.998000	0.56505	0.418000	0.31294	7.358000	0.79466	2.146000	0.66826	0.591000	0.81541	GGG		0.423	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		6	181	6	181	---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183881372	183881372	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:183881372C>A	ENST00000360851.3	+	15	1897	c.1719C>A	c.(1717-1719)ccC>ccA	p.P573P	RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000304685.4_Silent_p.P608P|RGL1_ENST00000539189.1_Silent_p.P544P			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	573	Ser-rich.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCATTACTCCCATGGACACCC	0.527																																						ENST00000304685.4																			0				breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						c.(1822-1824)ccC>ccA		ral guanine nucleotide dissociation stimulator-like 1							67.0	61.0	63.0					1																	183881372		2203	4300	6503	SO:0001819	synonymous_variant	23179				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	g.chr1:183881372C>A	AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1719C>A	1.37:g.183881372C>A			Somatic				RGL1_ENST00000539189.1_Silent_p.P544P|RGL1_ENST00000536277.1_Silent_p.P571P|RGL1_ENST00000360851.3_Silent_p.P573P	p.P608P	NM_015149.3	NP_055964.3	WXS	Illumina GAIIx	Phase_I	Q9NZL6	RGL1_HUMAN			16	2273	+						Ser-rich.		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Silent	SNP	ENST00000360851.3	37	c.1824C>A																																																																																					0.527	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000085742.1	NM_015149		5	43	5	43	---	---	---	---
PTGS2	5743	broad.mit.edu	37	1	186646027	186646027	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:186646027C>A	ENST00000367468.5	-	6	797	c.661G>T	c.(661-663)Ggt>Tgt	p.G221C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	221					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	AGAGTTTCACCGTAAATATGA	0.313																																						ENST00000367468.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(661-663)Ggt>Tgt		prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						115.0	129.0	124.0					1																	186646027		2203	4299	6502	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186646027C>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.661G>T	1.37:g.186646027C>A	ENSP00000356438:p.Gly221Cys		Somatic				PTGS2_ENST00000490885.2_5'UTR	p.G221C	NM_000963.2	NP_000954.1	WXS	Illumina GAIIx	Phase_I	P35354	PGH2_HUMAN			6	797	-			221					A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.661G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.748220	0.89663	.	.	ENSG00000073756	ENST00000367468	T	0.77750	-1.12	5.51	5.51	0.81932	.	0.050259	0.85682	D	0.000000	D	0.92648	0.7664	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94758	0.7933	10	0.87932	D	0	-14.6393	19.4407	0.94820	0.0:1.0:0.0:0.0	.	221;221	Q8IZA9;P35354	.;PGH2_HUMAN	C	221	ENSP00000356438:G221C	ENSP00000356438:G221C	G	-	1	0	PTGS2	184912650	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	5.726000	0.68515	2.586000	0.87340	0.650000	0.86243	GGT		0.313	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2	NM_000963		5	212	5	212	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197094066	197094066	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:197094066C>A	ENST00000367409.4	-	12	3358	c.3102G>T	c.(3100-3102)aaG>aaT	p.K1034N	ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1034	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CCACAATATCCTTAGATAGAA	0.323																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(3100-3102)aaG>aaT		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							124.0	134.0	131.0					1																	197094066		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197094066C>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3102G>T	1.37:g.197094066C>A	ENSP00000356379:p.Lys1034Asn		Somatic				ASPM_ENST00000367408.1_Missense_Mutation_p.K284N|ASPM_ENST00000294732.7_Missense_Mutation_p.K1034N	p.K1034N	NM_018136.4	NP_060606.3	WXS	Illumina GAIIx	Phase_I	Q8IZT6	ASPM_HUMAN			12	3358	-			1034			CH 1.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.3102G>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424932	0.62733	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.60040	0.22;0.22;0.22	5.55	2.65	0.31530	Calponin homology domain (4);	0.070563	0.64402	D	0.000020	T	0.64616	0.2614	L	0.43554	1.36	0.45403	D	0.998382	D;D	0.76494	0.999;0.999	D;D	0.68765	0.96;0.942	T	0.65409	-0.6175	10	0.72032	D	0.01	.	10.2877	0.43577	0.0:0.7274:0.0:0.2726	.	1034;1034	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	N	1034;1034;284	ENSP00000356379:K1034N;ENSP00000294732:K1034N;ENSP00000356378:K284N	ENSP00000294732:K1034N	K	-	3	2	ASPM	195360689	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	0.806000	0.27126	0.822000	0.34565	-0.251000	0.11542	AAG		0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		6	144	6	144	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200613506	200613506	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:200613506G>T	ENST00000331314.6	-	8	1949	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	579	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATGAAGGTATGGGGAATTTAA	0.358																																						ENST00000331314.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						c.(1735-1737)cCa>cAa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							217.0	210.0	212.0					1																	200613506		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200613506G>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1736C>A	1.37:g.200613506G>T	ENSP00000330460:p.Pro579Gln		Somatic				DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	p.P579Q	NM_001031725.4	NP_001026895.2	WXS	Illumina GAIIx	Phase_I	Q5T1V6	DDX59_HUMAN			8	1949	-			579			Helicase C-terminal.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1736C>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897408	0.91962	.	.	ENSG00000118197	ENST00000367346;ENST00000331314;ENST00000433235	D;T	0.92149	-2.98;0.97	5.61	5.61	0.85477	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94407	0.8201	L	0.45352	1.415	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.94207	0.7455	10	0.52906	T	0.07	-19.5638	19.6401	0.95754	0.0:0.0:1.0:0.0	.	579	Q5T1V6	DDX59_HUMAN	Q	165;579;222	ENSP00000330460:P579Q;ENSP00000409954:P222Q	ENSP00000330460:P579Q	P	-	2	0	DDX59	198880129	1.000000	0.71417	0.421000	0.26609	0.971000	0.66376	9.624000	0.98398	2.635000	0.89317	0.643000	0.83706	CCA		0.358	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		7	185	7	185	---	---	---	---
PPP1R15B	84919	broad.mit.edu	37	1	204378927	204378927	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:204378927C>A	ENST00000367188.4	-	1	1992	c.1613G>T	c.(1612-1614)gGg>gTg	p.G538V	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	538					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATCTTCCTCCCCAGAACTATG	0.458																																						ENST00000367188.4																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34						c.(1612-1614)gGg>gTg		protein phosphatase 1, regulatory subunit 15B							54.0	54.0	54.0					1																	204378927		2203	4300	6503	SO:0001583	missense	84919				regulation of translation			g.chr1:204378927C>A	AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.1613G>T	1.37:g.204378927C>A	ENSP00000356156:p.Gly538Val		Somatic				RP11-739N20.2_ENST00000443515.1_RNA	p.G538V	NM_032833.3	NP_116222.3	WXS	Illumina GAIIx	Phase_I	Q5SWA1	PR15B_HUMAN	all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)		1	1992	-	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		538					Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	ENST00000367188.4	37	c.1613G>T	CCDS1445.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.788951	0.49997	.	.	ENSG00000158615	ENST00000367188;ENST00000543650	T	0.26067	1.76	5.38	-1.08	0.09936	Protein phosphatase 1, regulatory subunit 15A/B, C-terminal (1);	0.546270	0.20617	N	0.088847	T	0.35913	0.0948	M	0.73962	2.25	0.37340	D	0.910353	D	0.58970	0.984	P	0.52386	0.697	T	0.48210	-0.9055	10	0.62326	D	0.03	-3.7724	10.2088	0.43128	0.0:0.4479:0.0:0.5521	.	538	Q5SWA1	PR15B_HUMAN	V	538;448	ENSP00000356156:G538V	ENSP00000356156:G538V	G	-	2	0	PPP1R15B	202645550	0.009000	0.17119	0.882000	0.34594	0.616000	0.37450	-0.222000	0.09190	-0.016000	0.14127	-0.150000	0.13652	GGG		0.458	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087974.1	NM_032833		6	56	6	56	---	---	---	---
SLC26A9	115019	broad.mit.edu	37	1	205901876	205901876	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:205901876G>T	ENST00000367135.3	-	4	443	c.330C>A	c.(328-330)ccC>ccA	p.P110P	SLC26A9_ENST00000367134.2_Silent_p.P110P|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Silent_p.P110P	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	110					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGGTCAGGAGGGGGAAGAAGG	0.592																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(328-330)ccC>ccA		solute carrier family 26 (anion exchanger), member 9							76.0	65.0	69.0					1																	205901876		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205901876G>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.330C>A	1.37:g.205901876G>T			Somatic				SLC26A9_ENST00000367134.2_Silent_p.P110P|SLC26A9_ENST00000340781.4_Silent_p.P110P	p.P110P	NM_052934.3	NP_443166.1	WXS	Illumina GAIIx	Phase_I	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		4	443	-	Breast(84;0.201)		110					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.330C>A	CCDS30990.1																																																																																				0.592	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		6	49	6	49	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215844538	215844538	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:215844538G>T	ENST00000307340.3	-	64	14295	c.13909C>A	c.(13909-13911)Cct>Act	p.P4637T	USH2A_ENST00000366943.2_Missense_Mutation_p.P4637T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4637	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATGTGGAGGGGGTTGCATC	0.478										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13909-13911)Cct>Act		Usher syndrome 2A (autosomal recessive, mild)							109.0	108.0	108.0					1																	215844538		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215844538G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13909C>A	1.37:g.215844538G>T	ENSP00000305941:p.Pro4637Thr	HNSCC(13;0.011)	Somatic				USH2A_ENST00000307340.3_Missense_Mutation_p.P4637T	p.P4637T			WXS	Illumina GAIIx	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	64	14295	-			4637			Fibronectin type-III 32.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13909C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.377	0.627965	0.14257	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.63417	-0.04;-0.04	5.21	0.67	0.17923	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.579316	0.14269	N	0.330277	T	0.49592	0.1566	L	0.59436	1.845	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.33777	-0.9855	10	0.37606	T	0.19	.	5.0778	0.14640	0.1469:0.504:0.244:0.1051	.	4637	O75445	USH2A_HUMAN	T	4637	ENSP00000305941:P4637T;ENSP00000355910:P4637T	ENSP00000305941:P4637T	P	-	1	0	USH2A	213911161	0.069000	0.21087	0.000000	0.03702	0.021000	0.10359	0.480000	0.22244	-0.071000	0.12886	0.650000	0.86243	CCT		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	108	6	108	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225611726	225611726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:225611726C>A	ENST00000338179.2	-	2	177	c.52G>T	c.(52-54)Ggg>Tgg	p.G18W	LBR_ENST00000272163.4_Missense_Mutation_p.G18W	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	18	Tudor.				cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGTGAACTCCCAGGCCATCGA	0.373																																						ENST00000338179.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						c.(52-54)Ggg>Tgg		lamin B receptor							258.0	280.0	273.0					1																	225611726		2203	4300	6503	SO:0001583	missense	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225611726C>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.52G>T	1.37:g.225611726C>A	ENSP00000339883:p.Gly18Trp		Somatic				LBR_ENST00000272163.4_Missense_Mutation_p.G18W	p.G18W	NM_194442.2	NP_919424.1	WXS	Illumina GAIIx	Phase_I	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	2	177	-	Breast(184;0.165)		18			Nucleoplasmic (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Missense_Mutation	SNP	ENST00000338179.2	37	c.52G>T	CCDS1545.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.789353	0.90367	.	.	ENSG00000143815	ENST00000272163;ENST00000338179;ENST00000425080;ENST00000421383	D;D;T	0.97959	-4.63;-4.63;-0.48	5.51	5.51	0.81932	Lamin-B receptor of TUDOR domain (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	D	0.97736	0.9257	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99222	1.0879	10	0.87932	D	0	-23.9586	17.2124	0.86934	0.0:1.0:0.0:0.0	.	18;18	C9JXK0;Q14739	.;LBR_HUMAN	W	18	ENSP00000272163:G18W;ENSP00000339883:G18W;ENSP00000388059:G18W	ENSP00000272163:G18W	G	-	1	0	LBR	223678349	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	6.519000	0.73768	2.581000	0.87130	0.655000	0.94253	GGG		0.373	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		10	494	10	494	---	---	---	---
SDE2	163859	broad.mit.edu	37	1	226175877	226175877	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:226175877G>T	ENST00000272091.7	-	6	872	c.854C>A	c.(853-855)cCg>cAg	p.P285Q		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	285																	GTCAGTCACCGGGATCTGCAG	0.502																																						ENST00000272091.7																			0											c.(853-855)cCg>cAg		SDE2 telomere maintenance homolog (S. pombe)							175.0	164.0	168.0					1																	226175877		1943	4144	6087	SO:0001583	missense	163859							g.chr1:226175877G>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.854C>A	1.37:g.226175877G>T	ENSP00000272091:p.Pro285Gln		Somatic					p.P285Q	NM_152608.3	NP_689821.3	WXS	Illumina GAIIx	Phase_I					6	872	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.854C>A	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653524	0.47362	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.53206	0.78;0.63	6.05	0.9	0.19278	.	0.513077	0.23622	N	0.046231	T	0.34135	0.0887	L	0.59436	1.845	0.09310	N	1	B;B	0.23591	0.088;0.021	B;B	0.25614	0.062;0.017	T	0.18085	-1.0348	10	0.21540	T	0.41	-0.685	1.397	0.02263	0.2086:0.1076:0.3867:0.2972	.	273;285	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	Q	285;273;190	ENSP00000272091:P285Q;ENSP00000355782:P190Q	ENSP00000272091:P285Q	P	-	2	0	C1orf55	224242500	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.191000	0.17076	-0.069000	0.12931	0.650000	0.86243	CCG		0.502	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		7	185	7	185	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228462475	228462475	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:228462475G>T	ENST00000422127.1	+	20	5930	c.5886G>T	c.(5884-5886)ctG>ctT	p.L1962L	OBSCN_ENST00000284548.11_Silent_p.L1962L|OBSCN_ENST00000366707.4_5'UTR|RP5-1139B12.3_ENST00000602947.1_RNA|RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000570156.2_Silent_p.L2337L|OBSCN_ENST00000359599.6_Silent_p.L809L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1962	Ig-like 19.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCTGGTGCTGGAGGACGCGG	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(7009-7011)ctG>ctT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28.0	36.0	33.0					1																	228462475		2132	4248	6380	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228462475G>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.5886G>T	1.37:g.228462475G>T			Somatic				OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1962L|RP5-1139B12.3_ENST00000602529.1_RNA|OBSCN_ENST00000359599.6_Silent_p.L809L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1962L	p.L2337L	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			24	7085	+		Prostate(94;0.0405)	1322			Ig-like 23.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.7011G>T	CCDS58065.1																																																																																				0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	14	4	14	---	---	---	---
WDR64	128025	broad.mit.edu	37	1	241958523	241958523	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:241958523C>A	ENST00000366552.2	+	25	3189	c.2982C>A	c.(2980-2982)ccC>ccA	p.P994P	WDR64_ENST00000437684.2_Silent_p.P827P	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	994										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GAAGATATCCCTTGGAAGGTT	0.443																																						ENST00000366552.2																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2980-2982)ccC>ccA		WD repeat domain 64							169.0	165.0	166.0					1																	241958523		2203	4300	6503	SO:0001819	synonymous_variant	128025							g.chr1:241958523C>A	AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.2982C>A	1.37:g.241958523C>A			Somatic				WDR64_ENST00000437684.2_Silent_p.P827P	p.P994P	NM_144625.4	NP_653226.4	WXS	Illumina GAIIx	Phase_I	B1ANS9	WDR64_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0116)		25	3189	+	Ovarian(103;0.103)	all_cancers(173;0.0121)	994					B1ANT0|Q7Z573|Q96LY9	Silent	SNP	ENST00000366552.2	37	c.2982C>A		.	.	.	.	.	.	.	.	.	.	C	7.557	0.663865	0.14710	.	.	ENSG00000162843	ENST00000425826	T	0.29142	1.58	5.62	-3.21	0.05140	.	0.733138	0.12997	N	0.421964	T	0.22360	0.0539	.	.	.	0.27410	N	0.954605	.	.	.	.	.	.	T	0.29305	-1.0016	7	0.33940	T	0.23	-2.3757	6.3522	0.21383	0.1462:0.2177:0.0:0.6362	.	.	.	.	H	473	ENSP00000406342:P473H	ENSP00000406342:P473H	P	+	2	0	WDR64	240025146	0.817000	0.29147	0.453000	0.27007	0.576000	0.36127	-0.114000	0.10757	-0.447000	0.07138	-1.244000	0.01528	CCT		0.443	WDR64-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_144625		6	141	6	141	---	---	---	---
CNST	163882	broad.mit.edu	37	1	246784922	246784922	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:246784922C>A	ENST00000366513.4	+	3	840	c.571C>A	c.(571-573)Ctt>Att	p.L191I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L191I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	191					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCACTTCCCCTTTGCCTTCA	0.468																																						ENST00000366513.4																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						c.(571-573)Ctt>Att		consortin, connexin sorting protein							153.0	146.0	149.0					1																	246784922		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246784922C>A	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.571C>A	1.37:g.246784922C>A	ENSP00000355470:p.Leu191Ile		Somatic				CNST_ENST00000366512.3_Missense_Mutation_p.L191I|CNST_ENST00000483271.1_3'UTR	p.L191I	NM_152609.2	NP_689822.2	WXS	Illumina GAIIx	Phase_I	Q6PJW8	CNST_HUMAN			3	840	+			191					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.571C>A	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949727	0.73787	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.25085	1.82;1.82	5.46	4.54	0.55810	.	0.093784	0.43416	D	0.000575	T	0.48040	0.1478	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.44314	-0.9336	10	0.52906	T	0.07	-3.7421	10.6358	0.45565	0.0:0.9114:0.0:0.0886	.	191;191	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	I	191	ENSP00000355470:L191I;ENSP00000355469:L191I	ENSP00000355469:L191I	L	+	1	0	CNST	244851545	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.683000	0.46943	2.551000	0.86045	0.655000	0.94253	CTT		0.468	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1	NM_152609		8	169	8	169	---	---	---	---
OR2L8	391190	broad.mit.edu	37	1	248112853	248112853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:248112853G>T	ENST00000357191.3	+	1	694	c.694G>T	c.(694-696)Ggg>Tgg	p.G232W	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ATCTGCAGAAGGGAGGAAGAA	0.453																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(694-696)Ggg>Tgg		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							171.0	119.0	137.0					1																	248112853		2203	4300	6503	SO:0001583	missense	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112853G>T	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.694G>T	1.37:g.248112853G>T	ENSP00000349719:p.Gly232Trp		Somatic				OR2L13_ENST00000366478.2_Intron	p.G232W	NM_001001963.1	NP_001001963.1	WXS	Illumina GAIIx	Phase_I	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	694	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		232					Q6IF03	Missense_Mutation	SNP	ENST00000357191.3	37	c.694G>T	CCDS31101.1	.	.	.	.	.	.	.	.	.	.	.	6.489	0.458434	0.12342	.	.	ENSG00000196936	ENST00000357191	T	0.00304	8.19	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32015	U	0.006702	T	0.01124	0.0037	H	0.98370	4.215	0.09310	N	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.17806	-1.0357	10	0.87932	D	0	.	10.6261	0.45508	0.0:0.0:1.0:0.0	.	232	Q8NGY9	OR2L8_HUMAN	W	232	ENSP00000349719:G232W	ENSP00000349719:G232W	G	+	1	0	OR2L8	246179476	0.005000	0.15991	0.021000	0.16686	0.061000	0.15899	0.595000	0.24029	1.010000	0.39314	0.485000	0.47835	GGG		0.453	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			6	160	6	160	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1667464	1667464	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:1667464G>T	ENST00000252804.4	-	12	1530	c.1480C>A	c.(1480-1482)Ctc>Atc	p.L494I	PXDN_ENST00000483018.1_5'Flank	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	494	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGGTCGTGGAGGGCAACACCA	0.622																																						ENST00000252804.4																			0				breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(1480-1482)Ctc>Atc		peroxidasin homolog (Drosophila)							83.0	91.0	88.0					2																	1667464		2055	4169	6224	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1667464G>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1480C>A	2.37:g.1667464G>T	ENSP00000252804:p.Leu494Ile		Somatic					p.L494I	NM_012293.1	NP_036425.1	WXS	Illumina GAIIx	Phase_I	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	12	1530	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	494			Ig-like C2-type 3.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.1480C>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768149	0.49680	.	.	ENSG00000130508	ENST00000252804	T	0.31769	1.48	5.79	5.79	0.91817	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.213285	0.42420	D	0.000717	T	0.31765	0.0807	N	0.26092	0.79	0.41562	D	0.988635	P;P	0.39940	0.696;0.605	P;P	0.49637	0.617;0.491	T	0.04796	-1.0926	10	0.45353	T	0.12	-37.0918	10.4267	0.44383	0.1443:0.0:0.8557:0.0	.	494;494	Q92626-2;Q92626	.;PXDN_HUMAN	I	494	ENSP00000252804:L494I	ENSP00000252804:L494I	L	-	1	0	PXDN	1646471	1.000000	0.71417	0.946000	0.38457	0.280000	0.26924	4.325000	0.59234	2.735000	0.93741	0.655000	0.94253	CTC		0.622	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	117	6	117	---	---	---	---
ROCK2	9475	broad.mit.edu	37	2	11367418	11367418	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:11367418C>A	ENST00000315872.6	-	6	1278	c.830G>T	c.(829-831)tGg>tTg	p.W277L	ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TACAGACCACCAATCACATTC	0.368																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(829-831)tGg>tTg		Rho-associated, coiled-coil containing protein kinase 2							244.0	240.0	241.0					2																	11367418		1891	4128	6019	SO:0001583	missense	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11367418C>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.830G>T	2.37:g.11367418C>A	ENSP00000317985:p.Trp277Leu		Somatic				ROCK2_ENST00000401753.1_Missense_Mutation_p.W34L	p.W277L	NM_004850.3	NP_004841.2	WXS	Illumina GAIIx	Phase_I	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	6	1278	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		277			Protein kinase.		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	ENST00000315872.6	37	c.830G>T	CCDS42654.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873729	0.91664	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000431087	T;T;T	0.21932	1.98;1.98;1.98	5.04	5.04	0.67666	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.30103	0.0754	N	0.11284	0.12	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.41233	-0.9520	10	0.87932	D	0	.	18.7544	0.91826	0.0:1.0:0.0:0.0	.	277	O75116	ROCK2_HUMAN	L	277;34;104	ENSP00000317985:W277L;ENSP00000385509:W34L;ENSP00000395957:W104L	ENSP00000261535:W277L	W	-	2	0	ROCK2	11284869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.501000	0.84356	0.585000	0.79938	TGG		0.368	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			7	203	7	203	---	---	---	---
IFT172	26160	broad.mit.edu	37	2	27688726	27688726	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27688726C>A	ENST00000260570.3	-	17	1819	c.1716G>T	c.(1714-1716)cgG>cgT	p.R572R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	572					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCCCCGCCCCGCTCCAGAC	0.488																																						ENST00000260570.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.(1714-1716)cgG>cgT		intraflagellar transport 172 homolog (Chlamydomonas)							311.0	307.0	309.0					2																	27688726		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27688726C>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1716G>T	2.37:g.27688726C>A			Somatic					p.R572R	NM_015662.1	NP_056477.1	WXS	Illumina GAIIx	Phase_I	Q9UG01	IF172_HUMAN			17	1819	-	Acute lymphoblastic leukemia(172;0.155)		572					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.1716G>T	CCDS1755.1																																																																																				0.488	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		9	407	9	407	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804602	27804602	+	Silent	SNP	C	C	A	rs375014967		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804602C>A	ENST00000408964.2	+	1	5214	c.5163C>A	c.(5161-5163)ccC>ccA	p.P1721P	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1721	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCGCAGTCCCGCTCGGAGGA	0.567																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5161-5163)ccC>ccA		chromosome 2 open reading frame 16							168.0	173.0	171.0					2																	27804602		1934	4130	6064	SO:0001819	synonymous_variant	84226							g.chr2:27804602C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5163C>A	2.37:g.27804602C>A			Somatic					p.P1721P	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	5214	+	Acute lymphoblastic leukemia(172;0.155)		1721			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5163C>A	CCDS42666.1																																																																																				0.567	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	263	7	263	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27804794	27804794	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:27804794C>A	ENST00000408964.2	+	1	5406	c.5355C>A	c.(5353-5355)ccC>ccA	p.P1785P	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000556601.1_5'Flank|AC074091.1_ENST00000408604.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000379717.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1785	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCCCTCAGAGAAAA	0.542																																						ENST00000408964.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5353-5355)ccC>ccA		chromosome 2 open reading frame 16							178.0	182.0	181.0					2																	27804794		1933	4132	6065	SO:0001819	synonymous_variant	84226							g.chr2:27804794C>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5355C>A	2.37:g.27804794C>A			Somatic				AC074091.1_ENST00000408604.1_RNA	p.P1785P	NM_032266.3	NP_115642.3	WXS	Illumina GAIIx	Phase_I	Q68DN1	CB016_HUMAN			1	5406	+	Acute lymphoblastic leukemia(172;0.155)		1785			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.5355C>A	CCDS42666.1																																																																																				0.542	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	234	7	234	---	---	---	---
PLEKHH2	130271	broad.mit.edu	37	2	43939470	43939470	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:43939470C>A	ENST00000282406.4	+	15	2518	c.2408C>A	c.(2407-2409)cCa>cAa	p.P803Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	803					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTGCCAACCCACTTTCCCTG	0.468																																						ENST00000282406.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2407-2409)cCa>cAa		pleckstrin homology domain containing, family H (with MyTH4 domain) member 2							109.0	97.0	101.0					2																	43939470		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43939470C>A	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2408C>A	2.37:g.43939470C>A	ENSP00000282406:p.Pro803Gln		Somatic					p.P803Q	NM_172069.3	NP_742066.2	WXS	Illumina GAIIx	Phase_I	Q8IVE3	PKHH2_HUMAN			15	2518	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	803					Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2408C>A	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703341	0.68501	.	.	ENSG00000152527	ENST00000282406	T	0.74842	-0.88	4.93	4.05	0.47172	.	0.177067	0.50627	D	0.000110	T	0.80053	0.4553	M	0.63843	1.955	0.51767	D	0.999936	D;D	0.67145	0.985;0.996	P;D	0.63877	0.883;0.919	T	0.76838	-0.2811	10	0.30078	T	0.28	-9.0051	9.2846	0.37749	0.0:0.8361:0.0:0.1639	.	803;240	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Q	803	ENSP00000282406:P803Q	ENSP00000282406:P803Q	P	+	2	0	PLEKHH2	43792974	1.000000	0.71417	0.979000	0.43373	0.926000	0.56050	4.601000	0.61090	1.066000	0.40716	0.460000	0.39030	CCA		0.468	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		5	81	5	81	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63280185	63280185	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:63280185C>A	ENST00000282549.2	+	3	336	c.60C>A	c.(58-60)ccC>ccA	p.P20P	OTX1_ENST00000366671.3_Silent_p.P20P	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	20					anterior/posterior pattern specification (GO:0009952)|diencephalon morphogenesis (GO:0048852)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)	p.P20P(2)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					TGGCCGGGCCCGCCATGGACC	0.657																																						ENST00000366671.3																			2	Substitution - coding silent(2)	p.P20P(2)	lung(1)|endometrium(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(58-60)ccC>ccA		orthodenticle homeobox 1							62.0	74.0	70.0					2																	63280185		2203	4299	6502	SO:0001819	synonymous_variant	5013					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:63280185C>A		CCDS1873.1	2p15	2011-06-20	2007-02-15		ENSG00000115507	ENSG00000115507		"""Homeoboxes / PRD class"""	8521	protein-coding gene	gene with protein product		600036	"""orthodenticle (Drosophila) homolog 1"", ""orthodenticle homolog 1 (Drosophila)"""			7959790	Standard	NM_001199770		Approved		uc002scd.3	P32242	OTTHUMG00000129454	ENST00000282549.2:c.60C>A	2.37:g.63280185C>A			Somatic				OTX1_ENST00000282549.2_Silent_p.P20P	p.P20P	NM_001199770.1	NP_001186699.1	WXS	Illumina GAIIx	Phase_I	P32242	OTX1_HUMAN			3	336	+	Lung NSC(7;0.121)|all_lung(7;0.211)		20					A6NHA2|B3KTJ4|Q53TG6	Silent	SNP	ENST00000282549.2	37	c.60C>A	CCDS1873.1																																																																																				0.657	OTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251617.1			5	154	5	154	---	---	---	---
LGALSL	29094	broad.mit.edu	37	2	64683534	64683534	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:64683534G>T	ENST00000238875.5	+	4	764	c.310G>T	c.(310-312)Ggg>Tgg	p.G104W	AC008074.3_ENST00000441630.1_RNA|LGALSL_ENST00000409537.2_Intron	NM_014181.2	NP_054900.2	Q3ZCW2	LEGL_HUMAN	lectin, galactoside-binding-like	104	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.					intracellular (GO:0005622)	carbohydrate binding (GO:0030246)										TTGTATATCTGGGGAGAGGGG	0.527																																						ENST00000238875.5																			0											c.(310-312)Ggg>Tgg		lectin, galactoside-binding-like							171.0	178.0	176.0					2																	64683534		2203	4300	6503	SO:0001583	missense	29094					intracellular	sugar binding	g.chr2:64683534G>T	AF161508	CCDS1877.1	2p14	2011-08-15			ENSG00000119862	ENSG00000119862			25012	protein-coding gene	gene with protein product	"""galectin-related protein"""					11042152, 16682780	Standard	NM_014181		Approved	HSPC159, GRP	uc002scy.4	Q3ZCW2	OTTHUMG00000129541	ENST00000238875.5:c.310G>T	2.37:g.64683534G>T	ENSP00000238875:p.Gly104Trp		Somatic				LGALSL_ENST00000409537.2_Intron	p.G104W	NM_014181.2	NP_054900.2	WXS	Illumina GAIIx	Phase_I	Q3ZCW2	LEGL_HUMAN			4	764	+			104			Galectin.		B2RBG8|D6W5E8|Q6P5T6|Q9P005	Missense_Mutation	SNP	ENST00000238875.5	37	c.310G>T	CCDS1877.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542138	0.85917	.	.	ENSG00000119862	ENST00000238875	T	0.08458	3.09	5.78	5.78	0.91487	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.48246	-0.9052	10	0.87932	D	0	-16.7742	20.0203	0.97492	0.0:0.0:1.0:0.0	.	104	Q3ZCW2	LEGL_HUMAN	W	104	ENSP00000238875:G104W	ENSP00000238875:G104W	G	+	1	0	AC008074.1	64537038	1.000000	0.71417	0.460000	0.27093	0.991000	0.79684	9.230000	0.95299	2.730000	0.93505	0.655000	0.94253	GGG		0.527	LGALSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251731.2	NM_014181		8	277	8	277	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65298930	65298930	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:65298930C>A	ENST00000377990.2	+	3	903	c.700C>A	c.(700-702)Cag>Aag	p.Q234K	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	234					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCGTCCCCCAGGAACCTTC	0.652																																						ENST00000377990.2																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(700-702)Cag>Aag		centrosomal protein 68kDa							56.0	63.0	61.0					2																	65298930		2203	4299	6502	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65298930C>A	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.700C>A	2.37:g.65298930C>A	ENSP00000367229:p.Gln234Lys		Somatic				CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.Q234K|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.Q234K	p.Q234K	NM_015147.2	NP_055962.2	WXS	Illumina GAIIx	Phase_I	Q76N32	CEP68_HUMAN			3	903	+			234					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.700C>A	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113589	0.77210	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.15487	2.43;2.42;2.42	5.79	4.86	0.63082	.	0.539313	0.18403	N	0.142297	T	0.11495	0.0280	L	0.29908	0.895	0.80722	D	1	P;P;P;P;P	0.41848	0.763;0.763;0.589;0.589;0.763	B;B;B;B;B	0.39027	0.229;0.229;0.288;0.229;0.288	T	0.02837	-1.1104	10	0.02654	T	1	-2.6382	13.8016	0.63204	0.0:0.8471:0.1529:0.0	.	222;234;234;234;234	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	K	234;234;234;222	ENSP00000367229:Q234K;ENSP00000438306:Q234K;ENSP00000260569:Q234K	ENSP00000260569:Q234K	Q	+	1	0	CEP68	65152434	0.007000	0.16637	0.516000	0.27786	0.299000	0.27559	1.932000	0.40143	2.735000	0.93741	0.591000	0.81541	CAG		0.652	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		8	107	8	107	---	---	---	---
POLR1A	25885	broad.mit.edu	37	2	86257427	86257427	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86257427C>A	ENST00000263857.6	-	31	5049	c.4671G>T	c.(4669-4671)aaG>aaT	p.K1557N	POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1557					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGTGATGCCCTTGGTCGCAT	0.478																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4669-4671)aaG>aaT		polymerase (RNA) I polypeptide A, 194kDa							189.0	171.0	177.0					2																	86257427		1961	4144	6105	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86257427C>A	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4671G>T	2.37:g.86257427C>A	ENSP00000263857:p.Lys1557Asn		Somatic				POLR1A_ENST00000409681.1_Missense_Mutation_p.K1496N	p.K1557N			WXS	Illumina GAIIx	Phase_I	O95602	RPA1_HUMAN			31	5049	-			1557					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4671G>T	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026913	0.54683	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.77229	-1.08;-1.08	4.12	4.12	0.48240	RNA polymerase Rpb1, domain 5 (1);	0.487229	0.24085	N	0.041686	D	0.82995	0.5158	M	0.80508	2.5	0.44485	D	0.997428	P	0.43231	0.801	P	0.49012	0.598	D	0.85693	0.1308	10	0.66056	D	0.02	-20.3183	13.1019	0.59224	0.0:0.8385:0.1615:0.0	.	1557	O95602	RPA1_HUMAN	N	1557;1496	ENSP00000263857:K1557N;ENSP00000386300:K1496N	ENSP00000263857:K1557N	K	-	3	2	POLR1A	86110938	0.983000	0.35010	0.999000	0.59377	0.827000	0.46813	0.860000	0.27871	2.250000	0.74265	0.655000	0.94253	AAG		0.478	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		7	108	7	108	---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86693619	86693619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:86693619G>T	ENST00000409556.1	+	11	1497	c.1132G>T	c.(1132-1134)Gga>Tga	p.G378*	KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	378					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GATTGGAACTGGAGACTTGAA	0.433																																					NSCLC(96;1150 1523 6936 46253 49736)	ENST00000409556.1																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						c.(1132-1134)Gga>Tga		lysine (K)-specific demethylase 3A							114.0	118.0	117.0					2																	86693619		2203	4300	6503	SO:0001587	stop_gained	55818				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr2:86693619G>T	AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1132G>T	2.37:g.86693619G>T	ENSP00000386660:p.Gly378*		Somatic				KDM3A_ENST00000542128.1_Nonsense_Mutation_p.G326*|KDM3A_ENST00000312912.5_Nonsense_Mutation_p.G378*|KDM3A_ENST00000409064.1_Nonsense_Mutation_p.G378*	p.G378*			WXS	Illumina GAIIx	Phase_I	Q9Y4C1	KDM3A_HUMAN			11	1497	+			378					D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Nonsense_Mutation	SNP	ENST00000409556.1	37	c.1132G>T	CCDS1990.1	.	.	.	.	.	.	.	.	.	.	G	37	5.984632	0.97173	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	.	.	.	5.93	5.93	0.95920	.	0.086842	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	17.5066	0.87747	0.0:0.0:1.0:0.0	.	.	.	.	X	378;378;378;378;326	.	ENSP00000323659:G378X	G	+	1	0	KDM3A	86547130	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.458000	0.60095	2.808000	0.96608	0.655000	0.94253	GGA		0.433	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433		6	218	6	218	---	---	---	---
IGKV3-7	28915	broad.mit.edu	37	2	89278096	89278096	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:89278096G>T	ENST00000390247.2	-	0	335									immunoglobulin kappa variable 3-7 (non-functional)																		GAACCTGGCTGGGATGCTAGT	0.537																																						ENST00000390247.2																			0																				59.0	54.0	55.0					2																	89278096		1867	4083	5950			28915							g.chr2:89278096G>T	X02725		2p11.2	2012-02-08	2008-09-10		ENSG00000243063	ENSG00000243063		"""Immunoglobulins / IGK locus"""	5821	other	immunoglobulin gene			"""immunoglobulin kappa variable 3-7"""				Standard	NG_000834		Approved				OTTHUMG00000151636		2.37:g.89278096G>T			Somatic								WXS	Illumina GAIIx	Phase_I					0	335	-									RNA	SNP	ENST00000390247.2	37																																																																																						0.537	IGKV3-7-001	KNOWN	non_canonical_polymorphism|mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323360.1	NG_000834		6	139	6	139	---	---	---	---
ZNF514	84874	broad.mit.edu	37	2	95815602	95815602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:95815602C>A	ENST00000295208.2	-	5	1090	c.628G>T	c.(628-630)Ggg>Tgg	p.G210W	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	210					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						AAGGACTTCCCACACTCATTA	0.443																																						ENST00000295208.2																			0				large_intestine(4)|lung(6)|urinary_tract(1)	11						c.(628-630)Ggg>Tgg		zinc finger protein 514							121.0	128.0	126.0					2																	95815602		2203	4300	6503	SO:0001583	missense	84874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:95815602C>A	AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.628G>T	2.37:g.95815602C>A	ENSP00000295208:p.Gly210Trp		Somatic				ZNF514_ENST00000411425.1_Missense_Mutation_p.G210W	p.G210W	NM_032788.1	NP_116177.1	WXS	Illumina GAIIx	Phase_I	Q96K75	ZN514_HUMAN			5	1090	-			210					Q5JPJ3	Missense_Mutation	SNP	ENST00000295208.2	37	c.628G>T	CCDS2011.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890939	0.72524	.	.	ENSG00000144026	ENST00000295208;ENST00000411425	T;T	0.36520	1.25;1.25	3.71	3.71	0.42584	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65217	0.2670	M	0.90309	3.105	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.73770	-0.3878	9	0.72032	D	0.01	.	13.3589	0.60644	0.0:1.0:0.0:0.0	.	210;29	Q96K75;Q658L7	ZN514_HUMAN;.	W	210	ENSP00000295208:G210W;ENSP00000405509:G210W	ENSP00000295208:G210W	G	-	1	0	ZNF514	95179329	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.006000	0.57083	2.065000	0.61736	0.655000	0.94253	GGG		0.443	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252769.1	NM_032788		6	151	6	151	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98451389	98451389	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:98451389C>A	ENST00000186436.5	-	9	1033		c.e9-1		TMEM131_ENST00000425805.2_Splice_Site	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGGAATTTCCTGACAAGTTA	0.368																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.e9-1		transmembrane protein 131							151.0	143.0	145.0					2																	98451389		1873	4100	5973	SO:0001630	splice_region_variant	23505					integral to membrane		g.chr2:98451389C>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.805-1G>T	2.37:g.98451389C>A			Somatic				TMEM131_ENST00000425805.2_Splice_Site		NM_015348.1	NP_056163.1	WXS	Illumina GAIIx	Phase_I	Q92545	TM131_HUMAN			9	1033	-									Splice_Site	SNP	ENST00000186436.5	37		CCDS46368.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.733087	0.89482	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7796	0.96412	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM131	97817821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.756000	0.94617	0.655000	0.94253	.		0.368	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542	Intron	6	167	6	167	---	---	---	---
IL1RL2	8808	broad.mit.edu	37	2	102804319	102804319	+	5'UTR	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:102804319G>T	ENST00000264257.2	+	0	118				IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.P24P	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2						cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTTGCAGCCCGGTTTGGGGAT	0.652																																						ENST00000441515.2																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						c.(70-72)ccG>ccT		interleukin 1 receptor-like 2							170.0	144.0	153.0					2																	102804319		2203	4300	6503	SO:0001623	5_prime_UTR_variant	8808				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	g.chr2:102804319G>T	U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.-9G>T	2.37:g.102804319G>T			Somatic				IL1RL2_ENST00000264257.2_5'UTR|IL1RL2_ENST00000539491.1_5'UTR|IL1RL2_ENST00000481806.1_3'UTR	p.P24P			WXS	Illumina GAIIx	Phase_I	Q9HB29	ILRL2_HUMAN			2	81	+			0			Ig-like C2-type 1.		A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	ENST00000264257.2	37	c.72G>T	CCDS2056.1																																																																																				0.652	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253290.1	NM_003854		5	103	5	103	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108487617	108487617	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:108487617G>T	ENST00000408999.3	+	20	3234	c.3157G>T	c.(3157-3159)Gga>Tga	p.G1053*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1053	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ACTTGTAATAGGAGAAGAAGG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3157-3159)Gga>Tga		RANBP2-like and GRIP domain containing 4							16.0	12.0	13.0					2																	108487617		689	1576	2265	SO:0001587	stop_gained	285190				intracellular transport		binding	g.chr2:108487617G>T	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3157G>T	2.37:g.108487617G>T	ENSP00000386810:p.Gly1053*		Somatic				RGPD4_ENST00000354986.4_Nonsense_Mutation_p.G1053*	p.G1053*	NM_182588.2	NP_872394.2	WXS	Illumina GAIIx	Phase_I	Q7Z3J3	RGPD4_HUMAN			20	3234	+			1053			RanBD1 1.		B9A029	Nonsense_Mutation	SNP	ENST00000408999.3	37	c.3157G>T	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	35	5.574394	0.96553	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	.	.	.	2.33	2.33	0.28932	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.6885	11.5771	0.50869	0.0:0.0:1.0:0.0	.	.	.	.	X	1053;1053;811	.	ENSP00000347081:G1053X	G	+	1	0	RGPD4	107854049	1.000000	0.71417	0.952000	0.39060	0.065000	0.16274	9.533000	0.98059	1.303000	0.44873	0.162000	0.16502	GGA		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		12	856	12	856	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	rs540910667		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19170	0.0		0.0	False		,,,				2504	0.0					ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1174-1176)Aat>Gat		anaphase promoting complex subunit 1							55.0	51.0	52.0					2																	112620054		2202	4300	6502	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112620054T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1174A>G	2.37:g.112620054T>C	ENSP00000339109:p.Asn392Asp		Somatic					p.N392D	NM_022662.3	NP_073153.1	WXS	Illumina GAIIx	Phase_I	Q9H1A4	APC1_HUMAN			10	1946	-			392					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1174A>G	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.695732	0.48202	.	.	ENSG00000153107	ENST00000341068	.	.	.	5.64	4.49	0.54785	.	0.000000	0.38436	U	0.001691	T	0.35970	0.0950	L	0.44542	1.39	0.31381	N	0.678989	B	0.26002	0.139	B	0.19946	0.027	T	0.35325	-0.9793	9	0.24483	T	0.36	-18.6633	9.7104	0.40243	0.0:0.0781:0.0:0.9219	.	392	Q9H1A4	APC1_HUMAN	D	392	.	ENSP00000339109:N392D	N	-	1	0	ANAPC1	112336525	0.976000	0.34144	0.787000	0.31911	0.997000	0.91878	5.022000	0.64078	2.137000	0.66172	0.533000	0.62120	AAT		0.378	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	24	6	24	---	---	---	---
MAP3K2	10746	broad.mit.edu	37	2	128066229	128066229	+	Silent	SNP	C	C	A	rs375482969		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128066229C>A	ENST00000409947.1	-	16	1848	c.1566G>T	c.(1564-1566)acG>acT	p.T522T	MAP3K2_ENST00000344908.5_Silent_p.T522T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	522	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	ATGGTGTGCCCGTGACAGACT	0.488																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1564-1566)acG>acT		mitogen-activated protein kinase kinase kinase 2							217.0	219.0	218.0					2																	128066229		2019	4206	6225	SO:0001819	synonymous_variant	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128066229C>A	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1566G>T	2.37:g.128066229C>A			Somatic				MAP3K2_ENST00000344908.5_Silent_p.T522T	p.T522T			WXS	Illumina GAIIx	Phase_I	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	16	1848	-	Colorectal(110;0.1)		522			Protein kinase.		B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1566G>T	CCDS46404.1																																																																																				0.488	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		7	348	7	348	---	---	---	---
MAP3K2	10746	broad.mit.edu	37	2	128079650	128079650	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:128079650G>T	ENST00000409947.1	-	12	1299	c.1017C>A	c.(1015-1017)acC>acA	p.T339T	MAP3K2_ENST00000344908.5_Silent_p.T339T			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	339					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	TGTCCATTACGGTCAAAGTAG	0.378																																						ENST00000409947.1																			0				central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7						c.(1015-1017)acC>acA		mitogen-activated protein kinase kinase kinase 2							100.0	97.0	98.0					2																	128079650		1909	4107	6016	SO:0001819	synonymous_variant	10746				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding	g.chr2:128079650G>T	AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1017C>A	2.37:g.128079650G>T			Somatic				MAP3K2_ENST00000344908.5_Silent_p.T339T	p.T339T			WXS	Illumina GAIIx	Phase_I	Q9Y2U5	M3K2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0706)	12	1299	-	Colorectal(110;0.1)		339					B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Silent	SNP	ENST00000409947.1	37	c.1017C>A	CCDS46404.1																																																																																				0.378	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609		3	25	3	25	---	---	---	---
MGAT5	4249	broad.mit.edu	37	2	135076250	135076250	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:135076250C>A	ENST00000409645.1	+	5	765	c.513C>A	c.(511-513)ccC>ccA	p.P171P	MGAT5_ENST00000281923.2_Silent_p.P171P			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	171					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GTTCAGATCCCTGCTACGCAG	0.512																																						ENST00000409645.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36						c.(511-513)ccC>ccA		mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase							239.0	226.0	230.0					2																	135076250		2203	4300	6503	SO:0001819	synonymous_variant	4249				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity	g.chr2:135076250C>A	D17716	CCDS2171.1	2q21	2013-02-25			ENSG00000152127	ENSG00000152127	2.4.1.155	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7049	protein-coding gene	gene with protein product		601774				8292036	Standard	NM_002410		Approved	GNT-V	uc002ttw.4	Q09328	OTTHUMG00000131681	ENST00000409645.1:c.513C>A	2.37:g.135076250C>A			Somatic				MGAT5_ENST00000281923.2_Silent_p.P171P	p.P171P			WXS	Illumina GAIIx	Phase_I	Q09328	MGT5A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0964)	5	765	+			171					D3DP70	Silent	SNP	ENST00000409645.1	37	c.513C>A	CCDS2171.1																																																																																				0.512	MGAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254584.3	NM_002410		7	236	7	236	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137928433	137928433	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:137928433G>T	ENST00000409968.1	+	7	1826	c.1648G>T	c.(1648-1650)Ggg>Tgg	p.G550W	THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	550						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGCATCAGAAGGGATCTGTTT	0.537																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(1648-1650)Ggg>Tgg		thrombospondin, type I, domain containing 7B							116.0	111.0	113.0					2																	137928433		2017	4183	6200	SO:0001583	missense	80731							g.chr2:137928433G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1648G>T	2.37:g.137928433G>T	ENSP00000387145:p.Gly550Trp		Somatic				THSD7B_ENST00000413152.2_Missense_Mutation_p.G519W|THSD7B_ENST00000272643.3_Missense_Mutation_p.G550W|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000485379.1_3'UTR	p.G550W			WXS	Illumina GAIIx	Phase_I				BRCA - Breast invasive adenocarcinoma(221;0.19)	7	1826	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1648G>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.087980	0.76642	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.25250	2.32;2.2;1.81	5.91	5.03	0.67393	.	0.152240	0.64402	D	0.000014	T	0.47303	0.1438	M	0.66439	2.03	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.45175	-0.9279	10	0.52906	T	0.07	.	12.339	0.55083	0.0787:0.0:0.9213:0.0	.	550;519	Q9C0I4;C9JKN6	THS7B_HUMAN;.	W	550;550;519	ENSP00000387145:G550W;ENSP00000272643:G550W;ENSP00000413841:G519W	ENSP00000272643:G550W	G	+	1	0	THSD7B	137644903	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	3.813000	0.55636	1.505000	0.48720	-0.140000	0.14226	GGG		0.537	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		5	50	5	50	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156365	145156365	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:145156365G>T	ENST00000558170.2	-	8	3573	c.2389C>A	c.(2389-2391)Cac>Aac	p.H797N	ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	797					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAACTACTGTGGGAGTTTTTA	0.393																																					Melanoma(33;1235 1264 5755 16332)	ENST00000558170.2																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107						c.(2389-2391)Cac>Aac		zinc finger E-box binding homeobox 2							128.0	133.0	131.0					2																	145156365		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156365G>T	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2389C>A	2.37:g.145156365G>T	ENSP00000454157:p.His797Asn		Somatic				ZEB2_ENST00000303660.4_Missense_Mutation_p.H797N|ZEB2_ENST00000409487.3_Missense_Mutation_p.H797N|ZEB2_ENST00000539609.3_Missense_Mutation_p.H773N	p.H797N	NM_014795.3	NP_055610.1	WXS	Illumina GAIIx	Phase_I	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	3573	-			797					A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.2389C>A	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382718	0.42207	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.12361	2.71;2.69;2.69	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.16811	0.0404	L	0.57536	1.79	0.80722	D	1	P;B;B;B	0.43662	0.814;0.128;0.128;0.128	B;B;B;B	0.35770	0.21;0.039;0.039;0.039	T	0.02238	-1.1190	10	0.39692	T	0.17	-11.1937	19.5998	0.95557	0.0:0.0:1.0:0.0	.	773;662;796;797	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	N	773;797;797	ENSP00000443792:H773N;ENSP00000302501:H797N;ENSP00000386854:H797N	ENSP00000302501:H797N	H	-	1	0	ZEB2	144872835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.809000	0.86057	2.717000	0.92951	0.655000	0.94253	CAC		0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		7	185	7	185	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152370886	152370886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152370886C>A	ENST00000172853.10	-	131	18117	c.17970G>T	c.(17968-17970)atG>atT	p.M5990I	NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000427231.2_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I			P20929	NEBU_HUMAN	nebulin	5990					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGTATCTTCCATTTCAGTGA	0.443																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(23071-23073)atG>atT		nebulin							332.0	335.0	334.0					2																	152370886		2158	4261	6419	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152370886C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17970G>T	2.37:g.152370886C>A	ENSP00000172853:p.Met5990Ile		Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.M7691I|NEB_ENST00000604864.1_Missense_Mutation_p.M7691I|NEB_ENST00000397345.3_Missense_Mutation_p.M7691I|NEB_ENST00000172853.10_Missense_Mutation_p.M5990I|NEB_ENST00000409198.1_Missense_Mutation_p.M5990I	p.M7691I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	159	23275	-			5990					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.23073G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.10|13.10	2.135692|2.135692	0.37728|0.37728	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.28895|.	1.59;1.59;1.59;1.59;1.59|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.169313|.	0.64402|.	D|.	0.000017|.	T|T	0.52933|0.52933	0.1765|0.1765	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;P|.	0.42556|.	0.029;0.126;0.783|.	B;B;P|.	0.51615|.	0.017;0.176;0.675|.	T|T	0.48293|0.48293	-0.9048|-0.9048	10|5	0.15952|.	T|.	0.53|.	.|.	10.1899|10.1899	0.43019|0.43019	0.0:0.8526:0.0:0.1474|0.0:0.8526:0.0:0.1474	.|.	5990;7691;2421|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	I|L	5990;7691;7691;2039;2421;5990|277	ENSP00000386259:M5990I;ENSP00000380505:M7691I;ENSP00000416578:M7691I;ENSP00000410961:M2421I;ENSP00000172853:M5990I|.	ENSP00000172853:M5990I|.	M|W	-|-	3|2	0|0	NEB|NEB	152079132|152079132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.769000|1.769000	0.38522|0.38522	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	ATG|TGG		0.443	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		7	320	7	320	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152487817	152487817	+	Intron	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:152487817C>A	ENST00000172853.10	-	63	9037				NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000427231.2_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000409198.1_Intron|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L			P20929	NEBU_HUMAN	nebulin						muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AATGGGGACCCAGCCAATGCC	0.448																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(9457-9459)tGg>tTg		nebulin							78.0	69.0	72.0					2																	152487817		692	1591	2283	SO:0001627	intron_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152487817C>A	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8890-484G>T	2.37:g.152487817C>A			Somatic				NEB_ENST00000603639.1_Missense_Mutation_p.W3153L|NEB_ENST00000604864.1_Missense_Mutation_p.W3153L|NEB_ENST00000397345.3_Missense_Mutation_p.W3153L|NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron	p.W3153L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	WXS	Illumina GAIIx	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	66	9660	-			3153					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.9458G>T		.	.	.	.	.	.	.	.	.	.	C	21.2	4.113207	0.77210	.	.	ENSG00000183091	ENST00000397345;ENST00000427231	T;T	0.07444	3.19;3.19	5.86	5.86	0.93980	.	.	.	.	.	T	0.36663	0.0975	M	0.87827	2.91	0.80722	D	1	.	.	.	.	.	.	T	0.12760	-1.0535	6	.	.	.	.	20.1931	0.98233	0.0:1.0:0.0:0.0	.	.	.	.	L	3153	ENSP00000380505:W3153L;ENSP00000416578:W3153L	.	W	-	2	0	NEB	152196063	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	5.809000	0.69172	2.771000	0.95319	0.563000	0.77884	TGG		0.448	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		6	78	6	78	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166852624	166852624	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:166852624C>A	ENST00000303395.4	-	24	4479	c.4480G>T	c.(4480-4482)Gga>Tga	p.G1494*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Nonsense_Mutation_p.G1494*			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1494					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGACCTCCAAAGTATAGA	0.308																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(4480-4482)Gga>Tga		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						87.0	84.0	85.0					2																	166852624		2202	4296	6498	SO:0001587	stop_gained	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166852624C>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4480G>T	2.37:g.166852624C>A	ENSP00000303540:p.Gly1494*		Somatic				SCN1A_ENST00000375405.3_Nonsense_Mutation_p.G1483*|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.G1494*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.G1466*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA	p.G1494*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	WXS	Illumina GAIIx	Phase_I	P35498	SCN1A_HUMAN			24	4497	-			1494					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Nonsense_Mutation	SNP	ENST00000303395.4	37	c.4480G>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	43	10.151485	0.99348	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	.	.	.	5.64	5.64	0.86602	.	0.082064	0.47455	D	0.000236	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.7032	0.96063	0.0:1.0:0.0:0.0	.	.	.	.	X	1494;1494;1483;1466	.	ENSP00000303540:G1494X	G	-	1	0	SCN1A	166560870	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.773000	0.85462	2.663000	0.90544	0.650000	0.86243	GGA		0.308	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		5	91	5	91	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172683358	172683358	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:172683358G>T	ENST00000422440.2	-	9	917	c.880C>A	c.(880-882)Cca>Aca	p.P294T	SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	294					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	TCAGCCAATGGGGCTATTCTC	0.403																																						ENST00000422440.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23						c.(880-882)Cca>Aca		solute carrier family 25 (aspartate/glutamate carrier), member 12	L-Aspartic Acid(DB00128)						69.0	70.0	70.0					2																	172683358		2203	4300	6503	SO:0001583	missense	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172683358G>T	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.880C>A	2.37:g.172683358G>T	ENSP00000388658:p.Pro294Thr		Somatic				SLC25A12_ENST00000392592.4_Missense_Mutation_p.P187T	p.P294T	NM_003705.4	NP_003696.2	WXS	Illumina GAIIx	Phase_I	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		9	917	-			294					B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.880C>A	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556451	0.86231	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.79454	-1.27;-1.26	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.90345	0.6979	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91539	0.5248	10	0.66056	D	0.02	-9.5747	19.3598	0.94432	0.0:0.0:1.0:0.0	.	187;294	B3KR64;O75746	.;CMC1_HUMAN	T	294;187	ENSP00000388658:P294T;ENSP00000376371:P187T	ENSP00000376371:P187T	P	-	1	0	SLC25A12	172391604	1.000000	0.71417	0.944000	0.38274	0.955000	0.61496	9.435000	0.97529	2.638000	0.89438	0.591000	0.81541	CCA		0.403	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705		6	116	6	116	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197946386	197946386	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:197946386C>A	ENST00000328737.2	-	15	1522	c.1446G>T	c.(1444-1446)aaG>aaT	p.K482N	ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N|ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	507										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CTTCCTTTTCCTTCAGCTCCC	0.408																																						ENST00000328737.2																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1444-1446)aaG>aaT		ankyrin repeat domain 44							217.0	217.0	217.0					2																	197946386		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197946386C>A	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1446G>T	2.37:g.197946386C>A	ENSP00000331516:p.Lys482Asn		Somatic				ANKRD44_ENST00000282272.8_Missense_Mutation_p.K499N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.K482N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.K482N|ANKRD44_ENST00000409153.1_Missense_Mutation_p.K507N|ANKRD44_ENST00000539527.1_Missense_Mutation_p.K435N	p.K482N			WXS	Illumina GAIIx	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		15	1522	-			507					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1446G>T		.	.	.	.	.	.	.	.	.	.	C	16.05	3.011774	0.54468	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.66280	2.52;-0.15;-0.12;-0.12;2.52;-0.09;2.52;-0.2	5.36	4.48	0.54585	.	0.115765	0.64402	D	0.000011	T	0.61286	0.2335	N	0.14661	0.345	0.43255	D	0.995188	B;P;D	0.69078	0.001;0.915;0.997	B;P;D	0.83275	0.005;0.72;0.996	T	0.57260	-0.7842	10	0.17832	T	0.49	.	12.6058	0.56523	0.0:0.9214:0.0:0.0786	.	435;507;525	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	N	322;499;482;482;482;182;507;435	ENSP00000403415:K322N;ENSP00000282272:K499N;ENSP00000331516:K482N;ENSP00000402420:K482N;ENSP00000338794:K482N;ENSP00000416319:K182N;ENSP00000387141:K507N;ENSP00000437825:K435N	ENSP00000282272:K499N	K	-	3	2	ANKRD44	197654631	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.537000	0.45702	1.381000	0.46364	0.563000	0.77884	AAG		0.408	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697		8	287	8	287	---	---	---	---
ATIC	471	broad.mit.edu	37	2	216213941	216213941	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:216213941C>A	ENST00000236959.9	+	15	1954	c.1628C>A	c.(1627-1629)cCt>cAt	p.P543H	ATIC_ENST00000435675.1_Missense_Mutation_p.P542H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H	NM_004044.6	NP_004035.2	P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	543					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|dihydrofolate metabolic process (GO:0046452)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	IMP cyclohydrolase activity (GO:0003937)|phosphoribosylaminoimidazolecarboxamide formyltransferase activity (GO:0004643)|protein homodimerization activity (GO:0042803)		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Methotrexate(DB00563)|Pemetrexed(DB00642)|Tetrahydrofolic acid(DB00116)	GCCTTCTTCCCTTTCCGAGAT	0.433			T	ALK	ALCL																																	ENST00000435675.1				Dom	yes		2	2q35	471	T	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase			L	ALK		ALCL	ATIC/ALK(24)	0				large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8						c.(1624-1626)cCt>cAt		5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	Tetrahydrofolic acid(DB00116)						131.0	125.0	127.0					2																	216213941		2203	4300	6503	SO:0001583	missense	471				IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity	g.chr2:216213941C>A		CCDS2398.1	2q35	2010-04-27			ENSG00000138363	ENSG00000138363	2.1.2.3, 3.5.4.10		794	protein-coding gene	gene with protein product	"""phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase"""	601731				8567683, 9378707	Standard	NM_004044		Approved	PURH, AICARFT, IMPCHASE	uc002vex.4	P31939	OTTHUMG00000133023	ENST00000236959.9:c.1628C>A	2.37:g.216213941C>A	ENSP00000236959:p.Pro543His		Somatic				ATIC_ENST00000236959.9_Missense_Mutation_p.P543H|ATIC_ENST00000540518.1_Missense_Mutation_p.P484H	p.P542H			WXS	Illumina GAIIx	Phase_I	P31939	PUR9_HUMAN		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	14	2016	+		Renal(323;0.229)	543					A8K202|E9PBU3|Q13856|Q53S28	Missense_Mutation	SNP	ENST00000236959.9	37	c.1625C>A	CCDS2398.1	.	.	.	.	.	.	.	.	.	.	C	31	5.085556	0.94100	.	.	ENSG00000138363	ENST00000236959;ENST00000540518;ENST00000435675;ENST00000442048	D;D;D;D	0.91407	-2.84;-2.84;-2.84;-2.84	5.9	5.9	0.94986	AICAR transformylase domain (1);Cytidine deaminase-like (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	H	0.98155	4.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98287	1.0511	10	0.87932	D	0	-24.7296	20.2789	0.98501	0.0:1.0:0.0:0.0	.	542;543	E9PBU3;P31939	.;PUR9_HUMAN	H	543;484;542;58	ENSP00000236959:P543H;ENSP00000440523:P484H;ENSP00000415935:P542H;ENSP00000391399:P58H	ENSP00000236959:P543H	P	+	2	0	ATIC	215922186	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	CCT		0.433	ATIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256610.1	NM_004044		6	88	6	88	---	---	---	---
CYP27A1	1593	broad.mit.edu	37	2	219677402	219677402	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:219677402C>A	ENST00000258415.4	+	4	1201	c.774C>A	c.(772-774)ccC>ccA	p.P258P		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	258					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CCTTCCTCCCCAAGTGGACTC	0.572																																						ENST00000258415.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26						c.(772-774)ccC>ccA		cytochrome P450, family 27, subfamily A, polypeptide 1	Cholecalciferol(DB00169)						287.0	277.0	280.0					2																	219677402		2203	4300	6503	SO:0001819	synonymous_variant	1593				bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding	g.chr2:219677402C>A	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.774C>A	2.37:g.219677402C>A			Somatic					p.P258P	NM_000784.3	NP_000775.1	WXS	Illumina GAIIx	Phase_I	Q02318	CP27A_HUMAN		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	4	1201	+		Renal(207;0.0474)	258					A8K303|Q6LDB4|Q86YQ6	Silent	SNP	ENST00000258415.4	37	c.774C>A	CCDS2423.1																																																																																				0.572	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4			10	379	10	379	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225657754	225657754	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:225657754G>T	ENST00000258390.7	-	47	5315	c.5248C>A	c.(5248-5250)Ctg>Atg	p.L1750M	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1744M	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1750	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCCGAGAGCAGGGATGCTGTG	0.443																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(5230-5232)Ctg>Atg		dedicator of cytokinesis 10							227.0	209.0	215.0					2																	225657754		1878	4112	5990	SO:0001583	missense	55619						GTP binding	g.chr2:225657754G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5248C>A	2.37:g.225657754G>T	ENSP00000258390:p.Leu1750Met		Somatic				DOCK10_ENST00000258390.7_Missense_Mutation_p.L1750M	p.L1744M			WXS	Illumina GAIIx	Phase_I	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	47	5343	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1750			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5230C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	8.477	0.858845	0.17178	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.19806	2.13;2.12	5.73	-0.996	0.10218	.	0.387664	0.27912	N	0.017357	T	0.07052	0.0179	N	0.04959	-0.14	0.27927	N	0.938014	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.002;0.002;0.003	T	0.18116	-1.0347	10	0.31617	T	0.26	.	3.0612	0.06200	0.1496:0.0929:0.232:0.5255	.	1750;1744;412	Q96BY6;B3FL70;B4DEY4	DOC10_HUMAN;.;.	M	1744;1750	ENSP00000386694:L1744M;ENSP00000258390:L1750M	ENSP00000258390:L1750M	L	-	1	2	DOCK10	225365998	1.000000	0.71417	0.997000	0.53966	0.749000	0.42624	1.600000	0.36762	0.060000	0.16281	-0.142000	0.14014	CTG		0.443	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			8	242	8	242	---	---	---	---
DNER	92737	broad.mit.edu	37	2	230450627	230450627	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:230450627C>A	ENST00000341772.4	-	4	928	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DNER_ENST00000482831.1_5'UTR	NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	265					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GACCAGTCCCCCTGAAGCCTG	0.517																																						ENST00000341772.4																			0				NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63						c.(793-795)gGg>gTg		delta/notch-like EGF repeat containing							93.0	91.0	92.0					2																	230450627		2203	4300	6503	SO:0001583	missense	92737				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	g.chr2:230450627C>A	AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.794G>T	2.37:g.230450627C>A	ENSP00000345229:p.Gly265Val		Somatic				DNER_ENST00000482831.1_5'UTR	p.G265V	NM_139072.3	NP_620711.3	WXS	Illumina GAIIx	Phase_I	Q8NFT8	DNER_HUMAN		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)	4	928	-		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)	265					A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	Missense_Mutation	SNP	ENST00000341772.4	37	c.794G>T	CCDS33390.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.140590	0.56936	.	.	ENSG00000187957	ENST00000341772	D	0.85258	-1.96	5.67	5.67	0.87782	.	0.097289	0.64402	D	0.000001	D	0.86381	0.5919	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.87066	0.2156	10	0.42905	T	0.14	.	19.7613	0.96319	0.0:1.0:0.0:0.0	.	265	Q8NFT8	DNER_HUMAN	V	265	ENSP00000345229:G265V	ENSP00000345229:G265V	G	-	2	0	DNER	230158871	1.000000	0.71417	0.985000	0.45067	0.548000	0.35241	4.174000	0.58256	2.661000	0.90470	0.655000	0.94253	GGG		0.517	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331902.1	NM_139072		6	82	6	82	---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233273012	233273012	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233273012C>A	ENST00000295453.3	+	6	736	c.684C>A	c.(682-684)ccC>ccA	p.P228P		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	228					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	ACATGTTTCCCATGGGGACCC	0.617																																						ENST00000295453.3																			0				breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13						c.(682-684)ccC>ccA		alkaline phosphatase, placental-like 2	Amifostine(DB01143)|Levamisole(DB00848)						89.0	98.0	95.0					2																	233273012		2200	4297	6497	SO:0001819	synonymous_variant	251				phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233273012C>A	J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.684C>A	2.37:g.233273012C>A			Somatic					p.P228P	NM_031313.2	NP_112603.2	WXS	Illumina GAIIx	Phase_I	P10696	PPBN_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	6	736	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	228					A8KAF2|Q16727|Q53S81|Q96CM1	Silent	SNP	ENST00000295453.3	37	c.684C>A	CCDS2491.1																																																																																				0.617	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2	NM_031313		6	116	6	116	---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	236617868	236617868	+	Missense_Mutation	SNP	C	C	A	rs139445824	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:236617868C>A	ENST00000304032.8	+	2	789	c.209C>A	c.(208-210)cCg>cAg	p.P70Q	AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q|AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	70	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGATCTGTCCCGGAGCTCAAA	0.562																																						ENST00000304032.8																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(208-210)cCg>cAg		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							186.0	170.0	175.0					2																	236617868		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236617868C>A	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.209C>A	2.37:g.236617868C>A	ENSP00000307634:p.Pro70Gln		Somatic				AGAP1_ENST00000409457.1_Missense_Mutation_p.P70Q|AGAP1_ENST00000409538.1_Missense_Mutation_p.P335Q|AGAP1_ENST00000336665.5_Missense_Mutation_p.P70Q	p.P70Q	NM_001037131.2	NP_001032208.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ3	AGAP1_HUMAN			2	789	+						Small GTPase-like.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.209C>A	CCDS33408.1	.	.	.	.	.	.	.	.	.	.	c	23.2	4.392003	0.83011	.	.	ENSG00000157985	ENST00000409457;ENST00000304032;ENST00000336665;ENST00000402604;ENST00000409538	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	3.88	3.88	0.44766	.	0.000000	0.64402	D	0.000001	T	0.48040	0.1478	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.994;0.998	T	0.55642	-0.8109	10	0.62326	D	0.03	.	16.4179	0.83748	0.0:1.0:0.0:0.0	.	70;70	Q9UPQ3-2;Q9UPQ3	.;AGAP1_HUMAN	Q	70;70;70;17;335	ENSP00000387174:P70Q;ENSP00000307634:P70Q;ENSP00000338378:P70Q;ENSP00000385492:P17Q;ENSP00000386897:P335Q	ENSP00000307634:P70Q	P	+	2	0	AGAP1	236282607	1.000000	0.71417	0.910000	0.35882	0.997000	0.91878	7.219000	0.78000	2.180000	0.69256	0.558000	0.71614	CCG		0.562	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914		5	179	5	179	---	---	---	---
COL6A3	1293	broad.mit.edu	37	2	238266526	238266526	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:238266526C>A	ENST00000295550.4	-	22	6924		c.e22-1		COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000472056.1_Splice_Site	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.?(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGGGTTACCCTGAAAGCAAC	0.527																																						ENST00000295550.4																			1	Unknown(1)	p.?(1)	lung(1)	breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.e22-1		collagen, type VI, alpha 3							195.0	175.0	182.0					2																	238266526		2203	4300	6503	SO:0001630	splice_region_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238266526C>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.6472-1G>T	2.37:g.238266526C>A			Somatic				COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site		NM_004369.3	NP_004360.2	WXS	Illumina GAIIx	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	22	6924	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)						A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Splice_Site	SNP	ENST00000295550.4	37		CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777456	0.49786	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3096	0.94182	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL6A3	237931265	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	6.981000	0.76166	2.571000	0.86741	0.655000	0.94253	.		0.527	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	Intron	7	208	7	208	---	---	---	---
STK25	10494	broad.mit.edu	37	2	242438544	242438544	+	Missense_Mutation	SNP	C	C	A	rs139865238		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:242438544C>A	ENST00000316586.4	-	7	980	c.631G>T	c.(631-633)Ggg>Tgg	p.G211W	STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				establishment or maintenance of cell polarity (GO:0007163)|Golgi localization (GO:0051645)|positive regulation of axonogenesis (GO:0050772)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGAGGCTCCCCCTTGGCCAGC	0.617																																					NSCLC(99;1100 1566 7679 28647 48345)	ENST00000316586.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						c.(631-633)Ggg>Tgg		serine/threonine kinase 25		C	TRP/GLY	1,4405	2.1+/-5.4	0,1,2202	72.0	79.0	77.0		631	5.3	1.0	2	dbSNP_134	77	0,8600		0,0,4300	no	missense	STK25	NM_006374.3	184	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	211/427	242438544	1,13005	2203	4300	6503	SO:0001583	missense	10494				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr2:242438544C>A	D63780	CCDS2549.1, CCDS63199.1, CCDS63200.1	2q37.3	2010-06-25	2010-06-25		ENSG00000115694	ENSG00000115694			11404	protein-coding gene	gene with protein product		602255	"""serine/threonine kinase 25 (Ste20, yeast homolog)"""			8887545, 9160885, 15037601	Standard	NM_001271977		Approved	SOK1, YSK1	uc002wbp.4	O00506	OTTHUMG00000133408	ENST00000316586.4:c.631G>T	2.37:g.242438544C>A	ENSP00000325748:p.Gly211Trp		Somatic				STK25_ENST00000535007.1_Missense_Mutation_p.G117W|STK25_ENST00000401869.1_Missense_Mutation_p.G211W|STK25_ENST00000405883.3_Missense_Mutation_p.G134W|STK25_ENST00000405585.1_Missense_Mutation_p.G134W|STK25_ENST00000403346.3_Missense_Mutation_p.G211W|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000543554.1_Missense_Mutation_p.G117W	p.G211W	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	WXS	Illumina GAIIx	Phase_I	O00506	STK25_HUMAN		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)	7	980	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	211			Protein kinase.		A8K6Z3|A8K7D2|B7Z9K1|Q15522|Q5BJF1	Missense_Mutation	SNP	ENST00000316586.4	37	c.631G>T	CCDS2549.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.70|19.70	3.875630|3.875630	0.72180|0.72180	2.27E-4|2.27E-4	0.0|0.0	ENSG00000115694|ENSG00000115694	ENST00000316586;ENST00000403346;ENST00000401869;ENST00000405883;ENST00000545437;ENST00000405585;ENST00000543554;ENST00000535007;ENST00000450497;ENST00000424537;ENST00000442307;ENST00000413760|ENST00000423004	T;T;T;T;T;T;T;T;T;T;T|.	0.70516|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;-0.49;-0.49;-0.49;-0.49|.	5.29|5.29	5.29|5.29	0.74685|0.74685	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.90689|0.90689	0.7079|0.7079	H|H	0.97829|0.97829	4.085|4.085	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.93904|0.93904	0.7191|0.7191	10|5	0.87932|.	D|.	0|.	.|.	19.321|19.321	0.94240|0.94240	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	137;134;211;117|.	B4DVS7;A8K6Z3;O00506;B4E185|.	.;.;STK25_HUMAN;.|.	W|S	211;211;211;134;117;134;117;117;117;115;117;117|92	ENSP00000325748:G211W;ENSP00000384162:G211W;ENSP00000385687:G211W;ENSP00000384444:G134W;ENSP00000385541:G134W;ENSP00000444886:G117W;ENSP00000446008:G117W;ENSP00000399212:G117W;ENSP00000417020:G115W;ENSP00000403607:G117W;ENSP00000395104:G117W|.	ENSP00000325748:G211W|.	G|R	-|-	1|3	0|2	STK25|STK25	242087217|242087217	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.394000|0.394000	0.30568|0.30568	7.583000|7.583000	0.82559|0.82559	2.637000|2.637000	0.89404|0.89404	0.655000|0.655000	0.94253|0.94253	GGG|AGG		0.617	STK25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257265.4	NM_006374		5	55	5	55	---	---	---	---
SUMF1	285362	broad.mit.edu	37	3	4452617	4452617	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:4452617C>A	ENST00000272902.5	-	7	921	c.886G>T	c.(886-888)Ggg>Tgg	p.G296W	SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	296					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATGCGTTCCCCACTATGTTG	0.413																																						ENST00000272902.5																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13						c.(886-888)Ggg>Tgg		sulfatase modifying factor 1							195.0	173.0	180.0					3																	4452617		2203	4300	6503	SO:0001583	missense	285362					endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity	g.chr3:4452617C>A	BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.886G>T	3.37:g.4452617C>A	ENSP00000272902:p.Gly296Trp		Somatic				SUMF1_ENST00000458465.2_Missense_Mutation_p.G164W|SUMF1_ENST00000383843.5_Missense_Mutation_p.G271W|SUMF1_ENST00000405420.2_Missense_Mutation_p.G296W|SUMF1_ENST00000534863.1_Missense_Mutation_p.G296W	p.G296W	NM_182760.3	NP_877437.2	WXS	Illumina GAIIx	Phase_I	Q8NBK3	SUMF1_HUMAN		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)	7	921	-		Melanoma(143;0.068)|Colorectal(144;0.233)	296					B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	ENST00000272902.5	37	c.886G>T	CCDS2564.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516542	0.44763	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000458465;ENST00000405420	D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94	5.42	4.55	0.56014	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.048550	0.85682	D	0.000000	D	0.99910	0.9957	H	0.99764	4.76	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.985;1.0;1.0;1.0	D	0.96141	0.9100	10	0.87932	D	0	-19.1944	13.13	0.59375	0.0:0.9212:0.0:0.0788	.	164;271;296;296	E9PF05;G5E9B0;E9PGL0;Q8NBK3	.;.;.;SUMF1_HUMAN	W	296;296;296;271;164;296	ENSP00000440421:G296W;ENSP00000272902:G296W;ENSP00000373355:G271W;ENSP00000410060:G164W;ENSP00000384977:G296W	ENSP00000272902:G296W	G	-	1	0	SUMF1	4427617	1.000000	0.71417	0.997000	0.53966	0.014000	0.08584	6.955000	0.76007	1.293000	0.44690	-0.258000	0.10820	GGG		0.413	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206591.2	NM_182760		7	219	7	219	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9412787	9412787	+	Missense_Mutation	SNP	C	C	A	rs150258248		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:9412787C>A	ENST00000345094.3	+	4	708	c.374C>A	c.(373-375)cCa>cAa	p.P125Q	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	125						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		GGAAAACTCCCATGGTCAAAC	0.323																																						ENST00000345094.3																			0				NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19						c.(373-375)cCa>cAa		THUMP domain containing 3							78.0	92.0	87.0					3																	9412787		2192	4296	6488	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9412787C>A	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.374C>A	3.37:g.9412787C>A	ENSP00000339532:p.Pro125Gln		Somatic				THUMPD3_ENST00000452837.2_Missense_Mutation_p.P125Q|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P125Q|SETD5-AS1_ENST00000468186.1_RNA	p.P125Q	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	WXS	Illumina GAIIx	Phase_I	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	4	708	+	Medulloblastoma(99;0.227)		125					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.374C>A	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730255	0.89390	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	T;T;T	0.49432	0.78;0.78;0.78	5.94	5.94	0.96194	.	0.150525	0.64402	D	0.000008	T	0.57080	0.2029	M	0.72894	2.215	0.80722	D	1	P	0.38370	0.628	B	0.41988	0.372	T	0.59511	-0.7441	10	0.66056	D	0.02	-7.3225	19.9583	0.97232	0.0:1.0:0.0:0.0	.	125	Q9BV44	THUM3_HUMAN	Q	125	ENSP00000395893:P125Q;ENSP00000339532:P125Q;ENSP00000424064:P125Q	ENSP00000339532:P125Q	P	+	2	0	THUMPD3	9387787	0.994000	0.37717	0.977000	0.42913	0.881000	0.50899	5.374000	0.66167	2.826000	0.97356	0.561000	0.74099	CCA		0.323	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		6	186	6	186	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14200143	14200143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:14200143G>T	ENST00000285021.7	-	9	1454	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	XPC_ENST00000449060.2_Missense_Mutation_p.Q377K	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	414	Arg/Lys-rich (basic).				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGACGTCGCTGGGTTGCCTTC	0.602			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1240-1242)Cag>Aag	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C							150.0	142.0	144.0					3																	14200143		1568	3582	5150	SO:0001583	missense	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14200143G>T		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.1240C>A	3.37:g.14200143G>T	ENSP00000285021:p.Gln414Lys		Somatic				XPC_ENST00000449060.2_Missense_Mutation_p.Q377K	p.Q414K	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	WXS	Illumina GAIIx	Phase_I	Q01831	XPC_HUMAN			9	1454	-			414			Arg/Lys-rich (basic).		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	ENST00000285021.7	37	c.1240C>A	CCDS46763.1	.	.	.	.	.	.	.	.	.	.	G	7.597	0.671960	0.14776	.	.	ENSG00000154767	ENST00000285021;ENST00000449060;ENST00000545431	T;T	0.34667	1.35;1.37	5.62	3.8	0.43715	.	0.433042	0.27491	N	0.019123	T	0.25044	0.0608	L	0.50333	1.59	0.09310	N	1	B;B	0.26318	0.144;0.146	B;B	0.16722	0.015;0.016	T	0.27400	-1.0075	10	0.07030	T	0.85	-0.7861	7.7218	0.28736	0.1392:0.0:0.7268:0.134	.	377;414	E9PH69;Q01831	.;XPC_HUMAN	K	414;377;4	ENSP00000285021:Q414K;ENSP00000404002:Q377K	ENSP00000285021:Q414K	Q	-	1	0	XPC	14175147	0.988000	0.35896	0.001000	0.08648	0.019000	0.09904	5.143000	0.64826	0.698000	0.31739	0.655000	0.94253	CAG		0.602	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628		7	198	7	198	---	---	---	---
BTD	686	broad.mit.edu	37	3	15677018	15677018	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:15677018C>A	ENST00000303498.5	+	2	241	c.132C>A	c.(130-132)acC>acA	p.T44T	BTD_ENST00000383778.4_Silent_p.T24T|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000437172.1_Silent_p.T46T	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	44					biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GAGCCCACACCGGGGAGGAGA	0.532																																						ENST00000383778.4																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						c.(70-72)acC>acA		biotinidase							145.0	137.0	140.0					3																	15677018		2203	4300	6503	SO:0001819	synonymous_variant	686				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity	g.chr3:15677018C>A	AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.132C>A	3.37:g.15677018C>A			Somatic				BTD_ENST00000482824.1_3'UTR|BTD_ENST00000449107.1_Silent_p.T46T|BTD_ENST00000303498.5_Silent_p.T44T|BTD_ENST00000437172.1_Silent_p.T46T	p.T24T	NM_001281725.1	NP_001268654.1	WXS	Illumina GAIIx	Phase_I	P43251	BTD_HUMAN			2	430	+			44					A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Silent	SNP	ENST00000303498.5	37	c.72C>A	CCDS2628.1																																																																																				0.532	BTD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252103.2	NM_000060		5	151	5	151	---	---	---	---
TRIM71	131405	broad.mit.edu	37	3	32915352	32915352	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:32915352C>A	ENST00000383763.5	+	2	958	c.895C>A	c.(895-897)Cgt>Agt	p.R299S		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	299					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCATCTGTCGTGAGTGCAC	0.592																																						ENST00000383763.5																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(895-897)Cgt>Agt		tripartite motif containing 71, E3 ubiquitin protein ligase							256.0	261.0	259.0					3																	32915352		2077	4228	6305	SO:0001583	missense	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32915352C>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.895C>A	3.37:g.32915352C>A	ENSP00000373272:p.Arg299Ser		Somatic					p.R299S	NM_001039111.1	NP_001034200.1	WXS	Illumina GAIIx	Phase_I	Q2Q1W2	LIN41_HUMAN			2	958	+									Missense_Mutation	SNP	ENST00000383763.5	37	c.895C>A	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933584	0.52866	.	.	ENSG00000206557	ENST00000383763	T	0.41065	1.01	5.53	4.63	0.57726	Zinc finger, B-box (3);	0.000000	0.64402	U	0.000009	T	0.51466	0.1676	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42327	-0.9458	10	0.10636	T	0.68	-11.7095	14.3351	0.66584	0.1541:0.8459:0.0:0.0	.	299	Q2Q1W2	LIN41_HUMAN	S	299	ENSP00000373272:R299S	ENSP00000373272:R299S	R	+	1	0	TRIM71	32890356	1.000000	0.71417	0.839000	0.33178	0.979000	0.70002	4.061000	0.57485	1.416000	0.47057	0.655000	0.94253	CGT		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111		6	409	6	409	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37323637	37323637	+	Silent	SNP	C	C	A	rs150573420		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:37323637C>A	ENST00000361924.2	+	3	725	c.351C>A	c.(349-351)ccC>ccA	p.P117P	GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	117					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTGATCCACCCTCTGATATGG	0.448																																						ENST00000361924.2																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(349-351)ccC>ccA		golgin A4							99.0	95.0	96.0					3																	37323637		2203	4300	6503	SO:0001819	synonymous_variant	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37323637C>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.351C>A	3.37:g.37323637C>A			Somatic				GOLGA4_ENST00000444882.1_Silent_p.P117P|GOLGA4_ENST00000356847.4_Silent_p.P139P|GOLGA4_ENST00000435830.2_3'UTR	p.P117P	NM_002078.4	NP_002069.2	WXS	Illumina GAIIx	Phase_I	Q13439	GOGA4_HUMAN			3	725	+			117					F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	c.351C>A	CCDS2666.1																																																																																				0.448	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		6	128	6	128	---	---	---	---
ACAA1	30	broad.mit.edu	37	3	38164548	38164548	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:38164548G>T	ENST00000333167.8	-	12	1437	c.1265C>A	c.(1264-1266)cCt>cAt	p.P422H	DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H|Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	422					alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCAGTTCCCAGGGTATTCAAA	0.542																																						ENST00000333167.8																			0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9						c.(1264-1266)cCt>cAt		acetyl-CoA acyltransferase 1							79.0	70.0	73.0					3																	38164548		2203	4300	6503	SO:0001583	missense	30				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	g.chr3:38164548G>T	X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087	ENST00000333167.8:c.1265C>A	3.37:g.38164548G>T	ENSP00000333664:p.Pro422His		Somatic				ACAA1_ENST00000301810.7_Missense_Mutation_p.P329H|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.P381H	p.P422H	NM_001607.3	NP_001598.1	WXS	Illumina GAIIx	Phase_I	P09110	THIK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)	12	1437	-			422					G5E935|Q96CA6	Missense_Mutation	SNP	ENST00000333167.8	37	c.1265C>A	CCDS2673.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.0|22.0	4.233899|4.233899	0.79688|0.79688	.|.	.|.	ENSG00000060971|ENSG00000060971	ENST00000452171|ENST00000333167;ENST00000301810;ENST00000450296;ENST00000358122	.|D;D;D	.|0.94330	.|-3.4;-3.32;-2.74	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Thiolase-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94324|0.94324	0.8176|0.8176	L|L	0.35341|0.35341	1.055|1.055	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;1.0;0.996	.|D;D;P	.|0.97110	.|0.966;1.0;0.832	D|D	0.91652|0.91652	0.5335|0.5335	5|10	.|0.15499	.|T	.|0.54	-16.1445|-16.1445	19.359|19.359	0.94428|0.94428	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|381;329;422	.|C9JDE9;G5E935;P09110	.|.;.;THIK_HUMAN	M|H	235|422;329;381;354	.|ENSP00000333664:P422H;ENSP00000301810:P329H;ENSP00000395183:P381H	.|ENSP00000301810:P329H	L|P	-|-	1|2	2|0	ACAA1|ACAA1	38139552|38139552	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.767000|0.767000	0.43475|0.43475	7.739000|7.739000	0.84976|0.84976	2.584000|2.584000	0.87258|0.87258	0.561000|0.561000	0.74099|0.74099	CTG|CCT		0.542	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607		6	110	6	110	---	---	---	---
CCR2	729230	broad.mit.edu	37	3	46399335	46399335	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:46399335G>T	ENST00000400888.2	+	1	356	c.317G>T	c.(316-318)tGg>tTg	p.W106L	CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000292301.4_Missense_Mutation_p.W106L			P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	106					blood vessel remodeling (GO:0001974)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular homeostasis (GO:0019725)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell chemotaxis (GO:0002407)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JAK-STAT cascade (GO:0007259)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of angiogenesis (GO:0016525)|negative regulation of eosinophil degranulation (GO:0043310)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of astrocyte chemotaxis (GO:2000464)|positive regulation of CD8-positive, alpha-beta T cell extravasation (GO:2000451)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of immune complex clearance by monocytes and macrophages (GO:0090265)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of monocyte extravasation (GO:2000439)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of vascular endothelial growth factor production (GO:0010574)|response to wounding (GO:0009611)|T-helper 17 cell chemotaxis (GO:0035705)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|CCR2 chemokine receptor binding (GO:0031727)|chemokine receptor activity (GO:0004950)|protein homodimerization activity (GO:0042803)			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GCAAATGAGTGGGTCTTTGGG	0.443																																						ENST00000292301.4																			0				breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14						c.(316-318)tGg>tTg		chemokine (C-C motif) receptor 2							314.0	287.0	295.0					3																	46399335		1568	3582	5150	SO:0001583	missense	729230				astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity	g.chr3:46399335G>T		CCDS43078.1, CCDS46813.1	3p21	2012-08-08			ENSG00000121807	ENSG00000121807		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1603	protein-coding gene	gene with protein product		601267		CMKBR2		8146186	Standard	NM_001123041		Approved	CC-CKR-2, CKR2, MCP-1-R, CD192, FLJ78302	uc003cpn.4	P41597	OTTHUMG00000156466	ENST00000400888.2:c.317G>T	3.37:g.46399335G>T	ENSP00000383681:p.Trp106Leu		Somatic				CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.W106L|CCR2_ENST00000400888.2_Missense_Mutation_p.W106L	p.W106L	NM_001123041.2	NP_001116513.2	WXS	Illumina GAIIx	Phase_I	P41597	CCR2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)	2	802	+			106					A0AVQ3|B2RMT0|Q4VBL2	Missense_Mutation	SNP	ENST00000400888.2	37	c.317G>T	CCDS43078.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455805	0.43634	.	.	ENSG00000121807	ENST00000445132;ENST00000292301;ENST00000421659;ENST00000400888	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	4.41	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.93048	0.7787	H	0.99525	4.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95175	0.8294	10	0.87932	D	0	.	13.9285	0.63978	0.0:0.0:0.8467:0.1533	.	106;106	P41597;Q4VBL2	CCR2_HUMAN;.	L	106	ENSP00000399285:W106L;ENSP00000292301:W106L;ENSP00000396736:W106L;ENSP00000383681:W106L	ENSP00000292301:W106L	W	+	2	0	CCR2	46374339	1.000000	0.71417	0.050000	0.19076	0.049000	0.14656	7.969000	0.87988	0.966000	0.38159	0.650000	0.86243	TGG		0.443	CCR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344292.1	NM_000647		8	439	8	439	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47163303	47163303	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:47163303C>A	ENST00000409792.3	-	3	2865	c.2823G>T	c.(2821-2823)aaG>aaT	p.K941N		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	941					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAGCAAATCCCTTTCCTGAAT	0.408			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(2821-2823)aaG>aaT		SET domain containing 2							115.0	117.0	116.0					3																	47163303		2203	4300	6503	SO:0001583	missense	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163303C>A	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2823G>T	3.37:g.47163303C>A	ENSP00000386759:p.Lys941Asn		Somatic					p.K941N	NM_014159.6	NP_054878.5	WXS	Illumina GAIIx	Phase_I	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2865	-		Acute lymphoblastic leukemia(5;0.0169)	941					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	ENST00000409792.3	37	c.2823G>T	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146611	0.21288	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90324	-2.65;1.18	4.97	-2.77	0.05877	.	0.441905	0.20997	N	0.081936	T	0.80433	0.4622	N	0.19112	0.55	0.09310	N	0.999995	B;B	0.26635	0.155;0.155	B;B	0.28916	0.096;0.06	T	0.65533	-0.6145	10	0.18276	T	0.48	.	12.7472	0.57287	0.0:0.4264:0.0:0.5736	.	941;941	F2Z317;Q9BYW2	.;SETD2_HUMAN	N	941;941;941;897	ENSP00000386759:K941N;ENSP00000416401:K897N	ENSP00000386759:K941N	K	-	3	2	SETD2	47138307	0.022000	0.18835	0.967000	0.41034	0.890000	0.51754	-0.277000	0.08502	-0.468000	0.06922	0.650000	0.86243	AAG		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		6	145	6	145	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48612668	48612668	+	Missense_Mutation	SNP	C	C	A	rs2229825	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:48612668C>A	ENST00000328333.8	-	74	6295	c.6188G>T	c.(6187-6189)cGg>cTg	p.R2063L	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2063	Triple-helical region.		R -> W (in HS-DEB; also in a mild form). {ECO:0000269|PubMed:10232406, ECO:0000269|PubMed:20598510, ECO:0000269|PubMed:9326325}.		cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R2063Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTCTCTCCCCGTTCTCCCTG	0.632																																						ENST00000328333.8																			1	Substitution - Missense(1)	p.R2063Q(1)	endometrium(1)	NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(6187-6189)cGg>cTg		collagen, type VII, alpha 1							139.0	144.0	142.0					3																	48612668		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48612668C>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.6188G>T	3.37:g.48612668C>A	ENSP00000332371:p.Arg2063Leu		Somatic				COL7A1_ENST00000454817.1_Missense_Mutation_p.R2031L	p.R2063L	NM_000094.3	NP_000085.1	WXS	Illumina GAIIx	Phase_I	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	74	6295	-			2063		R -> W (in HS-DEB; also in a mild form).	Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.6188G>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242361	0.39598	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96940	-4.18;-4.18	5.22	5.22	0.72569	.	0.224068	0.22437	N	0.060075	D	0.97049	0.9036	L	0.54908	1.71	0.29519	N	0.853638	D	0.63046	0.992	P	0.62298	0.9	D	0.94165	0.7418	10	0.35671	T	0.21	.	17.7837	0.88531	0.0:1.0:0.0:0.0	.	2063	Q02388	CO7A1_HUMAN	L	2063;2031	ENSP00000332371:R2063L;ENSP00000412569:R2031L	ENSP00000332371:R2063L	R	-	2	0	COL7A1	48587672	0.537000	0.26386	0.995000	0.50966	0.943000	0.58893	2.660000	0.46749	2.426000	0.82243	0.563000	0.77884	CGG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		6	149	6	149	---	---	---	---
TEX264	51368	broad.mit.edu	37	3	51733489	51733489	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:51733489C>A	ENST00000415259.1	+	4	1629	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	183						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TTCATGTGCCCACTGGCACGG	0.557																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(547-549)cCa>cAa		testis expressed 264							135.0	132.0	133.0					3																	51733489		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51733489C>A	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.548C>A	3.37:g.51733489C>A	ENSP00000396628:p.Pro183Gln		Somatic				TEX264_ENST00000341333.5_Missense_Mutation_p.P183Q|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.P183Q|TEX264_ENST00000457573.1_Missense_Mutation_p.P183Q|TEX264_ENST00000416589.1_Missense_Mutation_p.P183Q	p.P183Q			WXS	Illumina GAIIx	Phase_I	Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	4	1629	+			183					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.548C>A	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021375	0.93462	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T	0.02737	4.18;4.18;4.18;4.18;4.18;4.18;4.18	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.16300	0.0392	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00311	-1.1827	10	0.87932	D	0	-22.8761	17.1567	0.86793	0.0:1.0:0.0:0.0	.	183;183	Q53GI2;Q9Y6I9	.;TX264_HUMAN	Q	183	ENSP00000408186:P183Q;ENSP00000340969:P183Q;ENSP00000396628:P183Q;ENSP00000378497:P183Q;ENSP00000398802:P183Q;ENSP00000407151:P183Q;ENSP00000415957:P183Q	ENSP00000340969:P183Q	P	+	2	0	TEX264	51708529	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.555000	0.82223	2.309000	0.77851	0.491000	0.48974	CCA		0.557	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		7	168	7	168	---	---	---	---
LINC00696	100128378	broad.mit.edu	37	3	52097350	52097350	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52097350C>A	ENST00000541313.1	-	1	217	c.218G>T	c.(217-219)tGg>tTg	p.W73L				Q6ZRV3	CC074_HUMAN	long intergenic non-protein coding RNA 696	73																	TAATCCATCCCAGTACTCAAT	0.542																																						ENST00000541313.1																			0											c.(217-219)tGg>tTg									192.0	182.0	185.0					3																	52097350		876	1991	2867	SO:0001583	missense	100128378							g.chr3:52097350C>A	AK127958		3p21.1	2013-01-16	2012-11-20	2012-11-20				"""Long non-coding RNAs"""	34426	non-coding RNA	RNA, long non-coding			"""chromosome 3 open reading frame 74"""	C3orf74			Standard	NR_027331		Approved		uc010hmb.2	Q6ZRV3		ENST00000541313.1:c.218G>T	3.37:g.52097350C>A	ENSP00000437714:p.Trp73Leu		Somatic					p.W73L			WXS	Illumina GAIIx	Phase_I					1	217	-									Missense_Mutation	SNP	ENST00000541313.1	37	c.218G>T		.	.	.	.	.	.	.	.	.	.	C	9.210	1.030667	0.19512	.	.	ENSG00000256097	ENST00000541313	.	.	.	2.83	1.94	0.25998	.	.	.	.	.	T	0.39860	0.1094	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35599	-0.9782	5	0.87932	D	0	.	5.6471	0.17596	0.0:0.8438:0.0:0.1562	.	.	.	.	L	73	.	ENSP00000437714:W73L	W	-	2	0	C3orf74	52072390	0.000000	0.05858	0.010000	0.14722	0.498000	0.33706	0.019000	0.13444	0.741000	0.32674	0.655000	0.94253	TGG		0.542	LINC00696-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NR_027331		6	137	6	137	---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526356	52526356	+	Missense_Mutation	SNP	C	C	A	rs544727711	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:52526356C>A	ENST00000479054.1	+	22	4445	c.4373C>A	c.(4372-4374)cCg>cAg	p.P1458Q	STAB1_ENST00000321725.6_5'Flank|NISCH_ENST00000345716.4_Missense_Mutation_p.P1458Q			Q9Y2I1	NISCH_HUMAN	nischarin	1458					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCAGGTGGCCCGGCTAGAGCC	0.627																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4372-4374)cCg>cAg		nischarin							126.0	136.0	133.0					3																	52526356		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526356C>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4373C>A	3.37:g.52526356C>A	ENSP00000418232:p.Pro1458Gln		Somatic				NISCH_ENST00000479054.1_Missense_Mutation_p.P1458Q	p.P1458Q	NM_007184.3	NP_009115	WXS	Illumina GAIIx	Phase_I	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4507	+			1458					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4373C>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.728197	0.30593	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196	T;T	0.07327	3.2;3.2	5.37	-0.0745	0.13731	.	0.484283	0.20347	N	0.094133	T	0.04724	0.0128	N	0.19112	0.55	0.35971	D	0.835289	B	0.19445	0.036	B	0.14578	0.011	T	0.31586	-0.9938	10	0.54805	T	0.06	-1.0086	5.4243	0.16417	0.1259:0.5604:0.0:0.3137	.	1458	Q9Y2I1	NISCH_HUMAN	Q	1458;1458;382	ENSP00000418232:P1458Q;ENSP00000339958:P1458Q	ENSP00000339958:P1458Q	P	+	2	0	NISCH	52501396	0.058000	0.20735	0.009000	0.14445	0.796000	0.44982	0.740000	0.26188	-0.340000	0.08388	0.561000	0.74099	CCG		0.627	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		7	292	7	292	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62142882	62142882	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:62142882C>A	ENST00000474889.1	+	7	1201	c.824C>A	c.(823-825)cCc>cAc	p.P275H	PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	275	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACCCGTCCCCATCTCTTAC	0.483																																						ENST00000474889.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(823-825)cCc>cAc		protein tyrosine phosphatase, receptor type, G							101.0	96.0	98.0					3																	62142882		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62142882C>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.824C>A	3.37:g.62142882C>A	ENSP00000418112:p.Pro275His		Somatic				PTPRG_ENST00000295874.10_Missense_Mutation_p.P275H	p.P275H	NM_002841.3	NP_002832.3	WXS	Illumina GAIIx	Phase_I	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	7	1201	+			275			Alpha-carbonic anhydrase.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.824C>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273584	0.59649	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.66280	-0.2;-0.2	5.95	5.95	0.96441	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.112129	0.64402	D	0.000006	T	0.67505	0.2900	L	0.37800	1.135	0.45718	D	0.998628	P;P	0.51653	0.919;0.947	P;P	0.52881	0.678;0.712	T	0.67975	-0.5531	10	0.62326	D	0.03	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	275;275	P23470-2;P23470	.;PTPRG_HUMAN	H	275	ENSP00000418112:P275H;ENSP00000295874:P275H	ENSP00000295874:P275H	P	+	2	0	PTPRG	62117922	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.647000	0.54403	2.826000	0.97356	0.563000	0.77884	CCC		0.483	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		5	77	5	77	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433778	73433778	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73433778G>T	ENST00000263666.4	-	10	2053	c.1939C>A	c.(1939-1941)Cgc>Agc	p.R647S	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	647					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGAGCTCGCGGAAGCGCTCG	0.662																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1939-1941)Cgc>Agc		PDZ domain containing ring finger 3							55.0	61.0	59.0					3																	73433778		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433778G>T	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1939C>A	3.37:g.73433778G>T	ENSP00000263666:p.Arg647Ser		Somatic				PDZRN3_ENST00000535920.1_Missense_Mutation_p.R369S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R304S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R304S|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R364S	p.R647S	NM_015009.1	NP_055824.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2053	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	647					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1939C>A	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.530353	0.64860	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000492909	T;T;T;T;T;T	0.13420	2.59;3.29;3.19;3.19;3.3;3.26	4.28	4.28	0.50868	.	0.058403	0.64402	D	0.000002	T	0.28863	0.0716	M	0.71036	2.16	0.58432	D	0.999999	P;P;P;P	0.40266	0.487;0.478;0.71;0.478	P;B;P;B	0.49561	0.615;0.211;0.547;0.211	T	0.05146	-1.0903	10	0.54805	T	0.06	.	16.5215	0.84318	0.0:0.0:1.0:0.0	.	369;364;364;647	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	S	647;369;304;304;364;345	ENSP00000263666:R647S;ENSP00000442026:R369S;ENSP00000418168:R304S;ENSP00000418484:R304S;ENSP00000418624:R364S;ENSP00000419250:R345S	ENSP00000263666:R647S	R	-	1	0	PDZRN3	73516468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.857000	0.62939	2.212000	0.71576	0.655000	0.94253	CGC		0.662	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		5	114	5	114	---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73440205	73440205	+	Silent	SNP	C	C	A	rs542152332		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:73440205C>A	ENST00000263666.4	-	6	1431	c.1317G>T	c.(1315-1317)acG>acT	p.T439T	PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	439	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCATCGTCCGTCCGGTAGC	0.448																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1315-1317)acG>acT		PDZ domain containing ring finger 3							273.0	254.0	260.0					3																	73440205		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73440205C>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1317G>T	3.37:g.73440205C>A			Somatic				PDZRN3_ENST00000535920.1_Silent_p.T161T|PDZRN3_ENST00000466780.1_Silent_p.T96T|PDZRN3_ENST00000462146.2_Silent_p.T96T|PDZRN3_ENST00000479530.1_Silent_p.T156T|PDZRN3_ENST00000466348.1_5'UTR	p.T439T	NM_015009.1	NP_055824.1	WXS	Illumina GAIIx	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	6	1431	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	439			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.1317G>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	C	6.183	0.401985	0.11696	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.45875	0.1364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58075	-0.7700	4	.	.	.	.	8.2678	0.31824	0.0712:0.2787:0.0711:0.5789	.	.	.	.	L	36	.	.	R	-	2	0	PDZRN3	73522895	0.000000	0.05858	0.024000	0.17045	0.909000	0.53808	-8.567000	0.00019	-2.946000	0.00295	-1.004000	0.02495	CGG		0.448	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		7	375	7	375	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74414719	74414719	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:74414719C>A	ENST00000263665.6	-	8	1108	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	361	Ig-like C2-type 4.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTACCTCTAGCACCAGG	0.498																																						ENST00000263665.6																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(1081-1083)Gag>Tag		contactin 3 (plasmacytoma associated)							209.0	204.0	206.0					3																	74414719		2203	4300	6503	SO:0001587	stop_gained	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74414719C>A	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1081G>T	3.37:g.74414719C>A	ENSP00000263665:p.Glu361*		Somatic					p.E361*	NM_020872.1	NP_065923.1	WXS	Illumina GAIIx	Phase_I	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	8	1108	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	361			Ig-like C2-type 4.		B9EK50|Q9H039	Nonsense_Mutation	SNP	ENST00000263665.6	37	c.1081G>T	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	36	5.814525	0.96982	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.4631	0.55743	0.0:0.9233:0.0:0.0766	.	.	.	.	X	361	.	ENSP00000263665:E361X	E	-	1	0	CNTN3	74497409	1.000000	0.71417	0.984000	0.44739	0.542000	0.35054	5.730000	0.68546	2.501000	0.84356	0.591000	0.81541	GAG		0.498	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		8	316	8	316	---	---	---	---
ROBO2	6092	broad.mit.edu	37	3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463																																						ENST00000461745.1																			0				NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117						c.(1735-1737)cTc>cAc		roundabout, axon guidance receptor, homolog 2 (Drosophila)							81.0	80.0	81.0					3																	77614158		1977	4168	6145	SO:0001583	missense	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614158T>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1736T>A	3.37:g.77614158T>A	ENSP00000417164:p.Leu579His		Somatic				ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H|ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H	p.L579H	NM_002942.4	NP_002933.1	WXS	Illumina GAIIx	Phase_I	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2636	+			579			Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	c.1736T>A	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	11.28	1.591313	0.28357	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.56776	0.44;0.44;0.44	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.40222	N	0.001155	T	0.35219	0.0924	N	0.02674	-0.535	0.40650	D	0.982028	B;B;B	0.30664	0.176;0.289;0.176	B;B;B	0.42522	0.39;0.328;0.39	T	0.53947	-0.8366	9	0.27785	T	0.31	.	11.5561	0.50748	0.0:0.0688:0.0:0.9312	.	595;579;579	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	H	595;595;599;579;579;300	ENSP00000417335:L595H;ENSP00000417164:L579H;ENSP00000327536:L579H	ENSP00000327536:L579H	L	+	2	0	ROBO2	77696848	1.000000	0.71417	0.999000	0.59377	0.343000	0.28985	4.307000	0.59123	2.304000	0.77564	0.528000	0.53228	CTC		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		33	44	33	44	---	---	---	---
TOPBP1	11073	broad.mit.edu	37	3	133342926	133342926	+	Silent	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|response to ionizing radiation (GO:0010212)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes																													Ovarian(21;193 658 4424 15423 17362)	ENST00000260810.5																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(2896-2898)gtA>gtG	Other conserved DNA damage response genes	topoisomerase (DNA) II binding protein 1							124.0	118.0	120.0					3																	133342926		1855	4076	5931	SO:0001819	synonymous_variant	11073				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding	g.chr3:133342926T>C	AB019397	CCDS46919.1	3q22.1	2004-06-21			ENSG00000163781	ENSG00000163781			17008	protein-coding gene	gene with protein product		607760				9461304, 9039502	Standard	NM_007027		Approved	KIAA0259, TOP2BP1	uc003eps.3	Q92547	OTTHUMG00000159773	ENST00000260810.5:c.2898A>G	3.37:g.133342926T>C			Somatic					p.V966V	NM_007027.3	NP_008958.2	WXS	Illumina GAIIx	Phase_I	Q92547	TOPB1_HUMAN			17	3029	-			966			BRCT 6.		B7Z7W8|Q7LGC1|Q9UEB9	Silent	SNP	ENST00000260810.5	37	c.2898A>G	CCDS46919.1																																																																																				0.383	TOPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357254.1	NM_007027		21	43	21	43	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147128330	147128330	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:147128330C>A	ENST00000282928.4	+	1	1160	c.431C>A	c.(430-432)cCc>cAc	p.P144H		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	144					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTCCTCTTCCCCGGGCTTCAC	0.721																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(430-432)cCc>cAc		Zic family member 1							11.0	15.0	14.0					3																	147128330		2193	4287	6480	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128330C>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.431C>A	3.37:g.147128330C>A	ENSP00000282928:p.Pro144His		Somatic					p.P144H	NM_003412.3	NP_003403.2	WXS	Illumina GAIIx	Phase_I	Q15915	ZIC1_HUMAN			1	1160	+			144					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.431C>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911960	0.72983	.	.	ENSG00000152977	ENST00000282928	T	0.48522	0.81	3.34	3.34	0.38264	.	0.058366	0.64402	D	0.000001	T	0.67353	0.2884	M	0.80616	2.505	0.58432	D	0.999999	D	0.64830	0.994	D	0.64042	0.921	T	0.75371	-0.3341	10	0.87932	D	0	.	15.1964	0.73092	0.0:1.0:0.0:0.0	.	144	Q15915	ZIC1_HUMAN	H	144	ENSP00000282928:P144H	ENSP00000282928:P144H	P	+	2	0	ZIC1	148611020	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.062000	0.76706	1.878000	0.54408	0.542000	0.68232	CCC		0.721	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		4	20	4	20	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155200582	155200582	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:155200582G>T	ENST00000340059.7	-	23	3256	c.3257C>A	c.(3256-3258)cCa>cAa	p.P1086Q	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000460012.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1086					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGCTGCTTTGGGGAGAGAGA	0.512																																						ENST00000460012.1																			0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(3142-3144)cCa>cAa		phospholipase C, eta 1							187.0	188.0	187.0					3																	155200582		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155200582G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3257C>A	3.37:g.155200582G>T	ENSP00000345988:p.Pro1086Gln		Somatic				PLCH1_ENST00000334686.6_Missense_Mutation_p.P1048Q|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1048Q|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1086Q|PLCH1_ENST00000447496.2_3'UTR	p.P1048Q			WXS	Illumina GAIIx	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		23	3500	-			1086					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.3143C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655069	0.29425	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.57	3.77	0.43336	.	0.565071	0.17807	N	0.161349	T	0.13157	0.0319	L	0.32530	0.975	0.09310	N	1	B;P	0.34780	0.374;0.468	B;B	0.35470	0.203;0.1	T	0.20472	-1.0274	10	0.17369	T	0.5	.	4.5293	0.11997	0.1673:0.0:0.5211:0.3117	.	1048;1086	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	Q	1048;1086;1048;1048	ENSP00000417502:P1048Q;ENSP00000345988:P1086Q;ENSP00000335469:P1048Q;ENSP00000412977:P1048Q	ENSP00000335469:P1048Q	P	-	2	0	PLCH1	156683276	0.025000	0.19082	0.001000	0.08648	0.011000	0.07611	2.073000	0.41519	0.705000	0.31890	-0.282000	0.10007	CCA		0.512	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		7	221	7	221	---	---	---	---
LXN	56925	broad.mit.edu	37	3	158390192	158390192	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:158390192C>A	ENST00000264265.3	-	1	290	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron|GFM1_ENST00000264263.5_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	26	Cystatin-like fold 1. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TGCGGGGTCCCCTGCTGGTAG	0.592											OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000264265.3																			0				breast(2)|endometrium(1)|kidney(2)	5						c.(76-78)Ggg>Tgg		latexin							141.0	137.0	138.0					3																	158390192		2203	4300	6503	SO:0001583	missense	56925					cytoplasm	metalloendopeptidase inhibitor activity|protein binding	g.chr3:158390192C>A	AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.76G>T	3.37:g.158390192C>A	ENSP00000264265:p.Gly26Trp		Somatic	OREG0015899	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1793	GFM1_ENST00000478576.1_Intron|GFM1_ENST00000264263.5_Intron|GFM1_ENST00000486715.1_Intron	p.G26W	NM_020169.3	NP_064554.3	WXS	Illumina GAIIx	Phase_I	Q9BS40	LXN_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		1	290	-			26					Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	c.76G>T	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215143	0.95104	.	.	ENSG00000079257	ENST00000264265	T	0.65732	-0.17	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80681	0.4669	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82240	-0.0555	10	0.87932	D	0	-17.7104	18.9642	0.92689	0.0:1.0:0.0:0.0	.	26	Q9BS40	LXN_HUMAN	W	26	ENSP00000264265:G26W	ENSP00000264265:G26W	G	-	1	0	LXN	159872886	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.521000	0.73778	2.805000	0.96524	0.655000	0.94253	GGG		0.592	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1	NM_020169		7	129	7	129	---	---	---	---
SERPINI2	5276	broad.mit.edu	37	3	167189620	167189620	+	Start_Codon_SNP	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:167189620C>A	ENST00000476257.1	-	3	301	c.3G>T	c.(1-3)atG>atT	p.M1I	SERPINI2_ENST00000264677.4_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000461846.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Start_Codon_SNP_p.M1I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	1					cellular component movement (GO:0006928)|negative regulation of endopeptidase activity (GO:0010951)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						AGATTGTGTCCATTTTGACTT	0.343																																						ENST00000476257.1																			0				NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						c.(1-3)atG>atT		serpin peptidase inhibitor, clade I (pancpin), member 2							98.0	109.0	105.0					3																	167189620		2203	4299	6502	SO:0001582	initiator_codon_variant	5276				cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167189620C>A	AB006423	CCDS3200.1, CCDS75047.1	3q26.1	2014-02-18	2005-08-18		ENSG00000114204	ENSG00000114204		"""Serine (or cysteine) peptidase inhibitors"""	8945	protein-coding gene	gene with protein product		605587	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 2"", ""serine (or cysteine) proteinase inhibitor, clade I (pancpin), member 2"""	PI14		9624529, 24172014	Standard	NM_006217		Approved	PANCPIN, TSA2004, MEPI, pancpin	uc003fes.2	O75830	OTTHUMG00000158231	ENST00000476257.1:c.3G>T	3.37:g.167189620C>A	ENSP00000420621:p.Met1Ile		Somatic				SERPINI2_ENST00000461846.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000471111.1_Start_Codon_SNP_p.M1I|SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000264677.4_Start_Codon_SNP_p.M1I	p.M1I			WXS	Illumina GAIIx	Phase_I	O75830	SPI2_HUMAN			3	301	-			1						Translation_Start_Site	SNP	ENST00000476257.1	37	c.3G>T	CCDS3200.1	.	.	.	.	.	.	.	.	.	.	C	9.203	1.028878	0.19512	.	.	ENSG00000114204	ENST00000476257;ENST00000461846;ENST00000264677;ENST00000471111;ENST00000466903;ENST00000467583	D;D;D;D;T;T	0.83335	-1.71;-1.71;-1.71;-1.71;-1.46;-1.29	5.55	5.55	0.83447	Serpin domain (1);	0.378363	0.27100	N	0.020923	T	0.78329	0.4266	.	.	.	0.80722	D	1	P;P	0.34724	0.465;0.465	B;B	0.33690	0.168;0.168	T	0.79869	-0.1621	9	0.87932	D	0	.	12.7573	0.57343	0.0:0.835:0.1649:0.0	.	1;1	B4DDY9;O75830	.;SPI2_HUMAN	I	1	ENSP00000420621:M1I;ENSP00000417692:M1I;ENSP00000264677:M1I;ENSP00000419407:M1I;ENSP00000417752:M1I;ENSP00000419255:M1I	ENSP00000264677:M1I	M	-	3	0	SERPINI2	168672314	0.918000	0.31147	0.259000	0.24435	0.022000	0.10575	1.771000	0.38542	2.639000	0.89480	0.650000	0.86243	ATG		0.343	SERPINI2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350450.1	NM_006217	Missense_Mutation	6	222	6	222	---	---	---	---
NCEH1	57552	broad.mit.edu	37	3	172428830	172428830	+	5'UTR	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:172428830C>A	ENST00000475381.1	-	0	178				NCEH1_ENST00000538775.1_Missense_Mutation_p.R14L|NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CGATACCACCCGGAGACCTCC	0.642											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538775.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						c.(40-42)cGg>cTg		neutral cholesterol ester hydrolase 1							30.0	32.0	31.0					3																	172428830		2203	4300	6503	SO:0001623	5_prime_UTR_variant	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172428830C>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-56G>T	3.37:g.172428830C>A			Somatic	OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1900	NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000475381.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.R14L	p.R14L	NM_001146276.1	NP_001139748.1	WXS	Illumina GAIIx	Phase_I	Q6PIU2	NCEH1_HUMAN			1	178	-			0					B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.41G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	11.02|11.02	1.516902|1.516902	0.27123|0.27123	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000538775;ENST00000273512	.|T;T	.|0.04119	.|3.7;3.7	4.97|4.97	2.03|2.03	0.26663|0.26663	.|.	.|7.686920	.|0.00496	.|N	.|0.000146	T|T	0.03695|0.03695	0.0105|0.0105	N|N	0.08118|0.08118	0|0	0.22710|0.22710	N|N	0.99883|0.99883	.|B	.|0.19200	.|0.034	.|B	.|0.23275	.|0.045	T|T	0.34428|0.34428	-0.9829|-0.9829	5|10	.|0.36615	.|T	.|0.2	6.6157|6.6157	6.5247|6.5247	0.22295|0.22295	0.0:0.6758:0.1508:0.1734|0.0:0.6758:0.1508:0.1734	.|.	.|14	.|F5H7K4	.|.	W|L	5|14	.|ENSP00000442464:R14L;ENSP00000273512:R14L	.|ENSP00000273512:R14L	G|R	-|-	1|2	0|0	NCEH1|NCEH1	173911524|173911524	0.002000|0.002000	0.14202|0.14202	0.010000|0.010000	0.14722|0.14722	0.063000|0.063000	0.16089|0.16089	0.626000|0.626000	0.24492|0.24492	0.807000|0.807000	0.34208|0.34208	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.642	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		4	71	4	71	---	---	---	---
DCUN1D1	54165	broad.mit.edu	37	3	182679102	182679102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:182679102C>A	ENST00000292782.4	-	4	585	c.432G>T	c.(430-432)atG>atT	p.M144I	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	144	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			ATTCTTGTTCCATCTTGGGTA	0.303																																						ENST00000292782.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						c.(430-432)atG>atT		DCN1, defective in cullin neddylation 1, domain containing 1							290.0	318.0	308.0					3																	182679102		2203	4299	6502	SO:0001583	missense	54165					ubiquitin ligase complex	protein binding	g.chr3:182679102C>A	AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.432G>T	3.37:g.182679102C>A	ENSP00000292782:p.Met144Ile		Somatic				DCUN1D1_ENST00000469954.1_Missense_Mutation_p.M129I	p.M144I	NM_020640.2	NP_065691.2	WXS	Illumina GAIIx	Phase_I	Q96GG9	DCNL1_HUMAN	all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)		4	585	-	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		144			DCUN1.		B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Missense_Mutation	SNP	ENST00000292782.4	37	c.432G>T	CCDS3240.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049493	0.55218	.	.	ENSG00000043093	ENST00000292782;ENST00000458486;ENST00000469954	.	.	.	5.1	5.1	0.69264	Domain of unknown function DUF298 (2);	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	N	0.03209	-0.39	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.24621	-1.0155	9	0.49607	T	0.09	-7.3778	18.8666	0.92294	0.0:1.0:0.0:0.0	.	144	Q96GG9	DCNL1_HUMAN	I	144;104;129	.	ENSP00000292782:M144I	M	-	3	0	DCUN1D1	184161796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.569000	0.60865	2.536000	0.85505	0.591000	0.81541	ATG		0.303	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640		10	634	10	634	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183887886	183887886	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:183887886C>A	ENST00000313143.3	+	14	1839	c.1591C>A	c.(1591-1593)Cct>Act	p.P531T	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Missense_Mutation_p.P514T	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	531					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCCGCCCCTTGGCCCAT	0.682																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1591-1593)Cct>Act		dishevelled segment polarity protein 3							46.0	49.0	48.0					3																	183887886		2203	4298	6501	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887886C>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1591C>A	3.37:g.183887886C>A	ENSP00000316054:p.Pro531Thr		Somatic				DVL3_ENST00000431765.1_Missense_Mutation_p.P514T|EIF2B5_ENST00000444495.1_Intron	p.P531T	NM_004423.3	NP_004414.3	WXS	Illumina GAIIx	Phase_I	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1839	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		531					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.1591C>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039273	0.75617	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.04917	3.53;3.58	4.9	4.9	0.64082	Winged helix-turn-helix transcription repressor DNA-binding (1);Dishevelled C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.79805	2.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.996;0.999	T	0.04825	-1.0924	10	0.87932	D	0	-7.0057	18.427	0.90612	0.0:1.0:0.0:0.0	.	514;363;531;531	B4E3E5;Q9UG07;F5GWR8;Q92997	.;.;.;DVL3_HUMAN	T	531;531;514	ENSP00000316054:P531T;ENSP00000405885:P514T	ENSP00000316054:P531T	P	+	1	0	DVL3	185370580	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.445000	0.80570	2.430000	0.82344	0.561000	0.74099	CCT		0.682	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		5	63	5	63	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184910074	184910074	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184910074C>A	ENST00000231887.3	-	7	2187	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	704					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)	p.Q704H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			GAGGGTTTCCCTGAGAAGCCA	0.463																																						ENST00000231887.3																			1	Substitution - Missense(1)	p.Q704H(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(2110-2112)caG>caT		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						72.0	79.0	76.0					3																	184910074		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910074C>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.2112G>T	3.37:g.184910074C>A	ENSP00000231887:p.Gln704His		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.Q608H	p.Q704H	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	2187	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		704					A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.2112G>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	7.580	0.668614	0.14776	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.82526	-1.62;-1.62	5.91	2.98	0.34508	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.412335	0.26684	N	0.023022	T	0.70081	0.3183	L	0.28014	0.82	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.60959	-0.7159	10	0.54805	T	0.06	-0.4454	6.2556	0.20872	0.0:0.5971:0.1213:0.2816	.	704	Q08426	ECHP_HUMAN	H	704;608	ENSP00000231887:Q704H;ENSP00000387746:Q608H	ENSP00000231887:Q704H	Q	-	3	2	EHHADH	186392768	0.001000	0.12720	0.797000	0.32132	0.789000	0.44602	-0.036000	0.12185	0.314000	0.23086	-0.176000	0.13171	CAG		0.463	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			6	101	6	101	---	---	---	---
EHHADH	1962	broad.mit.edu	37	3	184922358	184922358	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:184922358C>A	ENST00000231887.3	-	6	831	c.756G>T	c.(754-756)gaG>gaT	p.E252D	EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	252	Enoyl-CoA hydratase / isomerase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			ACAGCTCCTCCTCCTTCTTGA	0.527																																						ENST00000231887.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(754-756)gaG>gaT		enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	NADH(DB00157)						136.0	133.0	134.0					3																	184922358		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184922358C>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.756G>T	3.37:g.184922358C>A	ENSP00000231887:p.Glu252Asp		Somatic				EHHADH_ENST00000456310.1_Missense_Mutation_p.E156D	p.E252D	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	WXS	Illumina GAIIx	Phase_I	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	831	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		252			Enoyl-CoA hydratase / isomerase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.756G>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690519	0.48097	.	.	ENSG00000113790	ENST00000537544;ENST00000231887;ENST00000456310	T;T	0.76709	-1.04;-1.04	5.39	-0.698	0.11280	.	0.353101	0.24927	N	0.034482	D	0.87325	0.6149	M	0.88450	2.955	0.46222	D	0.998937	D	0.89917	1.0	D	0.85130	0.997	D	0.85497	0.1189	10	0.87932	D	0	-26.0283	10.4002	0.44225	0.0:0.539:0.0:0.461	.	252	Q08426	ECHP_HUMAN	D	252;252;156	ENSP00000231887:E252D;ENSP00000387746:E156D	ENSP00000231887:E252D	E	-	3	2	EHHADH	186405052	0.001000	0.12720	0.008000	0.14137	0.416000	0.31233	-0.137000	0.10389	-0.500000	0.06614	0.650000	0.86243	GAG		0.527	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			7	244	7	244	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5687153	5687153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:5687153C>A	ENST00000344408.5	-	6	813	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W	EVC2_ENST00000310917.2_Missense_Mutation_p.G174W|EVC2_ENST00000344938.1_Missense_Mutation_p.G254W	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	254					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G254W(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCCCGTTCCCGAGGTCTCCA	0.572																																						ENST00000310917.2																			1	Substitution - Missense(1)	p.G254W(1)	lung(1)	NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						c.(520-522)Ggg>Tgg		Ellis van Creveld syndrome 2							124.0	115.0	118.0					4																	5687153		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5687153C>A	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.760G>T	4.37:g.5687153C>A	ENSP00000342144:p.Gly254Trp		Somatic				EVC2_ENST00000344938.1_Missense_Mutation_p.G254W|EVC2_ENST00000344408.5_Missense_Mutation_p.G254W	p.G174W	NM_001166136.1	NP_001159608.1	WXS	Illumina GAIIx	Phase_I	Q86UK5	LBN_HUMAN			6	1251	-			254					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.520G>T	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	6.222	0.409055	0.11812	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.77229	-1.08;-1.08;-1.08	4.52	-5.77	0.02369	.	0.447835	0.23038	N	0.052644	T	0.52980	0.1768	N	0.25144	0.715	0.09310	N	1	B	0.15719	0.014	B	0.18561	0.022	T	0.30563	-0.9974	10	0.33141	T	0.24	-3.1141	3.5748	0.07930	0.1187:0.2023:0.1173:0.5617	.	254	Q86UK5	LBN_HUMAN	W	254;174;254	ENSP00000339954:G254W;ENSP00000311683:G174W;ENSP00000342144:G254W	ENSP00000311683:G174W	G	-	1	0	EVC2	5738054	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.753000	0.04792	-1.431000	0.01982	-1.707000	0.00718	GGG		0.572	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		4	111	4	111	---	---	---	---
DCAF16	54876	broad.mit.edu	37	4	17805633	17805633	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:17805633G>T	ENST00000382247.1	-	3	1192	c.132C>A	c.(130-132)ccC>ccA	p.P44P	DCAF16_ENST00000536863.1_Silent_p.P44P|DCAF16_ENST00000507768.1_5'Flank	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	44					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						GCGATAAGTTGGGCACCATAG	0.408																																						ENST00000382247.1																			0				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(130-132)ccC>ccA		DDB1 and CUL4 associated factor 16							78.0	84.0	82.0					4																	17805633		2203	4300	6503	SO:0001819	synonymous_variant	54876					CUL4 RING ubiquitin ligase complex		g.chr4:17805633G>T	AK000287	CCDS3423.1	4p15.32	2009-07-17	2009-07-17	2009-07-17	ENSG00000163257	ENSG00000163257		"""DDB1 and CUL4 associated factors"""	25987	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 30"""	C4orf30		12477932	Standard	XM_005248169		Approved	FLJ20280	uc003gpn.3	Q9NXF7	OTTHUMG00000128536	ENST00000382247.1:c.132C>A	4.37:g.17805633G>T			Somatic				DCAF16_ENST00000536863.1_Silent_p.P44P	p.P44P	NM_017741.3	NP_060211.3	WXS	Illumina GAIIx	Phase_I	Q9NXF7	DCA16_HUMAN			3	1192	-			44					B3KPB7	Silent	SNP	ENST00000382247.1	37	c.132C>A	CCDS3423.1																																																																																				0.408	DCAF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250371.1	NM_017741		5	104	5	104	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26491107	26491107	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:26491107C>A	ENST00000295589.3	-	2	307		c.e2-1			NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor						axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GGCTGCCACTCTGCAGAGAGA	0.547																																						ENST00000295589.3																			0				NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.e2-1		cholecystokinin A receptor	Ceruletide(DB00403)						53.0	59.0	57.0					4																	26491107		2203	4300	6503	SO:0001630	splice_region_variant	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491107C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.113-1G>T	4.37:g.26491107C>A			Somatic						NM_000730.2	NP_000721.1	WXS	Illumina GAIIx	Phase_I	P32238	CCKAR_HUMAN			2	307	-		Breast(46;0.0503)						B2R9Z5	Splice_Site	SNP	ENST00000295589.3	37		CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362353	0.61403	.	.	ENSG00000163394	ENST00000295589	.	.	.	5.24	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2101	0.65759	0.0:0.9268:0.0:0.0732	.	.	.	.	.	-1	.	.	.	-	.	.	CCKAR	26100205	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	5.572000	0.67411	2.445000	0.82738	0.561000	0.74099	.		0.547	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		Intron	5	75	5	75	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55974046	55974046	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:55974046C>A	ENST00000263923.4	-	10	1565	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	424	Ig-like C2-type 5.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATTTCTCACCAATCTGGGGT	0.453			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												ENST00000263923.4				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			"""NSCLC, angiosarcoma"""		0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135						c.(1270-1272)Ggt>Tgt		kinase insert domain receptor (a type III receptor tyrosine kinase)	Sorafenib(DB00398)|Sunitinib(DB01268)						156.0	137.0	144.0					4																	55974046		2203	4300	6503	SO:0001583	missense	3791				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55974046C>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.1270G>T	4.37:g.55974046C>A	ENSP00000263923:p.Gly424Cys	TSP Lung(20;0.16)	Somatic					p.G424C	NM_002253.2	NP_002244.1	WXS	Illumina GAIIx	Phase_I	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		10	1565	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		424			Ig-like C2-type 5.		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	c.1270G>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	C	9.632	1.136771	0.21123	.	.	ENSG00000128052	ENST00000263923	T	0.76448	-1.02	4.89	4.05	0.47172	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.360500	0.32655	N	0.005805	T	0.68109	0.2965	L	0.35723	1.085	0.38847	D	0.956199	P;B	0.38078	0.617;0.044	B;B	0.40477	0.33;0.055	T	0.67538	-0.5645	10	0.38643	T	0.18	.	8.15	0.31134	0.1565:0.7638:0.0:0.0797	.	424;424	P35968-2;P35968	.;VGFR2_HUMAN	C	424	ENSP00000263923:G424C	ENSP00000263923:G424C	G	-	1	0	KDR	55668803	0.226000	0.23696	0.998000	0.56505	0.598000	0.36846	2.259000	0.43259	1.289000	0.44618	0.462000	0.41574	GGT		0.453	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			5	88	5	88	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797468	57797468	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:57797468C>A	ENST00000309042.7	+	4	2758	c.2444C>A	c.(2443-2445)cCt>cAt	p.P815H		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	815	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAAAAGCCTCCTCTCCGAAAA	0.507																																						ENST00000309042.7																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(2443-2445)cCt>cAt		RE1-silencing transcription factor							100.0	110.0	107.0					4																	57797468		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57797468C>A	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2444C>A	4.37:g.57797468C>A	ENSP00000311816:p.Pro815His		Somatic					p.P815H	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	WXS	Illumina GAIIx	Phase_I	Q13127	REST_HUMAN			4	2758	+	Glioma(25;0.08)|all_neural(26;0.181)		815			Pro-rich.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.2444C>A	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.296826	0.60086	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.11169	2.8	5.38	5.38	0.77491	.	0.586706	0.14340	N	0.325762	T	0.28200	0.0696	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	1.0;0.998	D;P	0.74348	0.983;0.879	T	0.03662	-1.1015	10	0.87932	D	0	-4.7997	14.5121	0.67794	0.0:1.0:0.0:0.0	.	792;815	F8WAN5;Q13127	.;REST_HUMAN	H	815;792	ENSP00000311816:P815H	ENSP00000311816:P815H	P	+	2	0	REST	57492225	0.141000	0.22595	0.038000	0.18304	0.002000	0.02628	2.816000	0.48026	2.793000	0.96121	0.655000	0.94253	CCT		0.507	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		7	199	7	199	---	---	---	---
PROL1	58503	broad.mit.edu	37	4	71275452	71275452	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:71275452C>A	ENST00000399575.2	+	3	581	c.407C>A	c.(406-408)cCt>cAt	p.P136H	PROL1_ENST00000514338.1_3'UTR	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	136	Pro-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ATTTACCTTCCTATCTCTAAC	0.438																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(406-408)cCt>cAt		proline rich, lacrimal 1							185.0	193.0	190.0					4																	71275452		1887	4116	6003	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275452C>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.407C>A	4.37:g.71275452C>A	ENSP00000382485:p.Pro136His		Somatic				PROL1_ENST00000514338.1_3'UTR	p.P136H	NM_021225.4	NP_067048.4	WXS	Illumina GAIIx	Phase_I	Q99935	PROL1_HUMAN			3	581	+		all_hematologic(202;0.196)	136			Pro-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.407C>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	C	5.225	0.227046	0.09916	.	.	ENSG00000171199	ENST00000399575	.	.	.	1.83	-3.07	0.05363	.	1.040800	0.07695	N	0.939368	T	0.26593	0.0650	L	0.36672	1.1	0.09310	N	1	B	0.26041	0.14	B	0.17979	0.02	T	0.23404	-1.0189	9	0.87932	D	0	.	2.2951	0.04148	0.4071:0.2821:0.0:0.3109	.	136	Q99935	PROL1_HUMAN	H	136	.	ENSP00000382485:P136H	P	+	2	0	PROL1	71310041	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.892000	0.04131	-0.999000	0.03442	0.491000	0.48974	CCT		0.438	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		7	110	7	110	---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73169752	73169752	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:73169752C>A	ENST00000286657.4	-	17	2342	c.2306G>T	c.(2305-2307)gGg>gTg	p.G769V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	769	Spacer.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTTCCTCCCCTTTGCCATT	0.388																																					NSCLC(168;1941 2048 2918 13048 43078)	ENST00000286657.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(2305-2307)gGg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 3							179.0	181.0	181.0					4																	73169752		2203	4300	6503	SO:0001583	missense	9508				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	g.chr4:73169752C>A	AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2306G>T	4.37:g.73169752C>A	ENSP00000286657:p.Gly769Val		Somatic					p.G769V	NM_014243.2	NP_055058.2	WXS	Illumina GAIIx	Phase_I	O15072	ATS3_HUMAN	Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		17	2342	-			769			Spacer.		A1L3U9|Q9BXZ8	Missense_Mutation	SNP	ENST00000286657.4	37	c.2306G>T	CCDS3553.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540322	0.85917	.	.	ENSG00000156140	ENST00000286657	T	0.50001	0.76	5.57	4.72	0.59763	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.63120	-0.6708	10	0.26408	T	0.33	.	15.7903	0.78350	0.1373:0.8627:0.0:0.0	.	769	O15072	ATS3_HUMAN	V	769	ENSP00000286657:G769V	ENSP00000286657:G769V	G	-	2	0	ADAMTS3	73388616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.730000	0.84881	1.324000	0.45282	0.655000	0.94253	GGG		0.388	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252164.2			8	235	8	235	---	---	---	---
AGPAT9	84803	broad.mit.edu	37	4	84502812	84502812	+	Missense_Mutation	SNP	G	G	T	rs368798800		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:84502812G>T	ENST00000395226.2	+	4	524	c.306G>T	c.(304-306)aaG>aaT	p.K102N	AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	102					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCTCCAAGAAGGGATTGGAAG	0.443																																						ENST00000395226.2																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13						c.(304-306)aaG>aaT		1-acylglycerol-3-phosphate O-acyltransferase 9		G	ASN/LYS	0,4406		0,0,2203	183.0	181.0	181.0		306	5.7	1.0	4		181	1,8599	1.2+/-3.3	0,1,4299	no	missense	AGPAT9	NM_032717.3	94	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging	102/435	84502812	1,13005	2203	4300	6503	SO:0001583	missense	84803				phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	g.chr4:84502812G>T	AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.306G>T	4.37:g.84502812G>T	ENSP00000378651:p.Lys102Asn		Somatic				AGPAT9_ENST00000264409.4_Missense_Mutation_p.K102N	p.K102N	NM_001256421.1	NP_001243350.1	WXS	Illumina GAIIx	Phase_I	Q53EU6	GPAT3_HUMAN			4	524	+		Hepatocellular(203;0.114)	102					Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	ENST00000395226.2	37	c.306G>T	CCDS3606.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039605	0.55003	0.0	1.16E-4	ENSG00000138678	ENST00000395226;ENST00000264409	T;T	0.46451	0.87;0.87	5.66	5.66	0.87406	.	0.146954	0.64402	D	0.000010	T	0.54208	0.1844	M	0.73598	2.24	0.52501	D	0.999954	D	0.63880	0.993	P	0.53954	0.738	T	0.51180	-0.8738	10	0.28530	T	0.3	-13.9597	12.6348	0.56677	0.1181:0.0:0.8819:0.0	.	102	Q53EU6	GPAT3_HUMAN	N	102	ENSP00000378651:K102N;ENSP00000264409:K102N	ENSP00000264409:K102N	K	+	3	2	AGPAT9	84721836	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.890000	0.39728	2.693000	0.91896	0.644000	0.83932	AAG		0.443	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252821.3	NM_032717		6	152	6	152	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85605227	85605227	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:85605227C>A	ENST00000295888.4	-	63	10002	c.9595G>T	c.(9595-9597)Ggg>Tgg	p.G3199W	WDFY3_ENST00000322366.6_Missense_Mutation_p.G3182W	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3199	Interaction with ATG5.|Interaction with SQSTM1.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ATAGGGTTCCCATTGATGCTC	0.502																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(9544-9546)Ggg>Tgg		WD repeat and FYVE domain containing 3							118.0	100.0	106.0					4																	85605227		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85605227C>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.9595G>T	4.37:g.85605227C>A	ENSP00000295888:p.Gly3199Trp		Somatic				WDFY3_ENST00000295888.4_Missense_Mutation_p.G3199W	p.G3182W			WXS	Illumina GAIIx	Phase_I	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	62	9951	-		Hepatocellular(203;0.114)	3199					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.9544G>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777676	0.90195	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.37411	1.2;1.2	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68007	0.2954	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.72204	-0.4361	10	0.87932	D	0	.	20.1986	0.98248	0.0:1.0:0.0:0.0	.	3199	Q8IZQ1	WDFY3_HUMAN	W	3182;3199	ENSP00000318466:G3182W;ENSP00000295888:G3199W	ENSP00000295888:G3199W	G	-	1	0	WDFY3	85824251	1.000000	0.71417	0.994000	0.49952	0.714000	0.41099	7.487000	0.81328	2.781000	0.95711	0.650000	0.86243	GGG		0.502	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		5	83	5	83	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88055651	88055651	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:88055651C>A	ENST00000307808.6	+	19	3736	c.3316C>A	c.(3316-3318)Cca>Aca	p.P1106T	AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1106					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCTCTTTCCCCAATGCCTTC	0.567																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(3316-3318)Cca>Aca		AF4/FMR2 family, member 1							295.0	307.0	303.0					4																	88055651		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88055651C>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.3316C>A	4.37:g.88055651C>A	ENSP00000305689:p.Pro1106Thr		Somatic				AFF1_ENST00000395146.4_Missense_Mutation_p.P1114T|AFF1_ENST00000544085.1_Missense_Mutation_p.P745T	p.P1106T	NM_005935.2	NP_005926.1	WXS	Illumina GAIIx	Phase_I	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	19	3736	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	1106					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.3316C>A	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081688	0.76528	.	.	ENSG00000172493	ENST00000395146;ENST00000307808;ENST00000544085	T;T;T	0.69926	-0.44;-0.44;-0.44	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	D	0.84110	0.5400	M	0.84082	2.675	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85611	0.1258	10	0.72032	D	0.01	-15.4938	19.3861	0.94556	0.0:1.0:0.0:0.0	.	1114;1107;1106	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	T	1114;1106;745	ENSP00000378578:P1114T;ENSP00000305689:P1106T;ENSP00000440843:P745T	ENSP00000305689:P1106T	P	+	1	0	AFF1	88274675	1.000000	0.71417	0.997000	0.53966	0.942000	0.58702	7.238000	0.78173	2.677000	0.91161	0.491000	0.48974	CCA		0.567	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		9	424	9	424	---	---	---	---
NFKB1	4790	broad.mit.edu	37	4	103528375	103528375	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:103528375G>T	ENST00000505458.1	+	18	2297	c.2020G>T	c.(2020-2022)Ggg>Tgg	p.G674W	NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000226574.4_Missense_Mutation_p.G675W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	674	Essential for interaction with HIF1AN.|Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|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 calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGTGGCCGCTGGGGCTGACGT	0.572																																						ENST00000226574.4																			0				biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(2023-2025)Ggg>Tgg		nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						94.0	93.0	94.0					4																	103528375		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103528375G>T	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2020G>T	4.37:g.103528375G>T	ENSP00000424790:p.Gly674Trp		Somatic				NFKB1_ENST00000505458.1_Missense_Mutation_p.G674W|NFKB1_ENST00000600343.1_Missense_Mutation_p.G494W|NFKB1_ENST00000394820.4_Missense_Mutation_p.G674W	p.G675W	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	WXS	Illumina GAIIx	Phase_I	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	18	2490	+		Hepatocellular(203;0.217)	674			Interaction with CFLAR.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.2023G>T	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094907	0.56075	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.73258	-0.73;-0.73;-0.73	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.065895	0.64402	D	0.000010	D	0.89065	0.6609	H	0.97918	4.105	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91872	0.5508	10	0.87932	D	0	.	11.545	0.50688	0.0826:0.0:0.9174:0.0	.	494;674;675	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	W	675;674;674	ENSP00000226574:G675W;ENSP00000378297:G674W;ENSP00000424790:G674W	ENSP00000226574:G675W	G	+	1	0	NFKB1	103747413	1.000000	0.71417	0.066000	0.19879	0.420000	0.31355	4.388000	0.59633	2.308000	0.77769	0.655000	0.94253	GGG		0.572	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			6	111	6	111	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113510868	113510868	+	Intron	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:113510868G>T	ENST00000505019.1	-	11	3253				C4orf21_ENST00000309071.5_Missense_Mutation_p.H1047N	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN								integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGAGCAATGTGGTAACGACTA	0.348																																						ENST00000309071.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(3139-3141)Cac>Aac		chromosome 4 open reading frame 21							92.0	95.0	94.0					4																	113510868		2203	4300	6503	SO:0001627	intron_variant	55345							g.chr4:113510868G>T																												ENST00000505019.1:c.3127+11C>A	4.37:g.113510868G>T			Somatic				C4orf21_ENST00000505019.1_Intron	p.H1047N			WXS	Illumina GAIIx	Phase_I	Q86YA3	CD021_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	11	3264	-		Ovarian(17;0.156)	1047					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.3139C>A		.	.	.	.	.	.	.	.	.	.	G	9.799	1.179979	0.21787	.	.	ENSG00000138658	ENST00000309071	T	0.24538	1.85	4.6	-0.384	0.12474	.	3.252310	0.00937	N	0.002787	T	0.18425	0.0442	.	.	.	0.09310	N	1	B	0.29432	0.244	B	0.24006	0.05	T	0.23154	-1.0196	9	0.87932	D	0	0.2285	3.3165	0.07035	0.4157:0.0:0.4003:0.184	.	1047	Q86YA3	CD021_HUMAN	N	1047	ENSP00000309095:H1047N	ENSP00000309095:H1047N	H	-	1	0	C4orf21	113730317	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-0.986000	0.03747	-0.029000	0.13827	-0.225000	0.12378	CAC		0.348	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			6	58	6	58	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126372476	126372476	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:126372476C>A	ENST00000394329.3	+	9	10318	c.10305C>A	c.(10303-10305)ccC>ccA	p.P3435P	FAT4_ENST00000335110.5_Silent_p.P1733P	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3435	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTCCATCCCCAGCTGGAGCA	0.453																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(10303-10305)ccC>ccA		FAT atypical cadherin 4							115.0	116.0	116.0					4																	126372476		2203	4300	6503	SO:0001819	synonymous_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126372476C>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10305C>A	4.37:g.126372476C>A			Somatic				FAT4_ENST00000335110.5_Silent_p.P1733P	p.P3435P	NM_024582.4	NP_078858.4	WXS	Illumina GAIIx	Phase_I	Q6V0I7	FAT4_HUMAN			9	10318	+			3435			Cadherin 33.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	c.10305C>A	CCDS3732.3																																																																																				0.453	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		7	144	7	144	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140641195	140641195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:140641195G>T	ENST00000509479.2	-	5	3555	c.2699C>A	c.(2698-2700)cCg>cAg	p.P900Q	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGGTTGCCTCGGTCCCTGGGC	0.522																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(2698-2700)cCg>cAg		mastermind-like 3 (Drosophila)							228.0	235.0	233.0					4																	140641195		2061	4211	6272	SO:0001583	missense	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140641195G>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.2699C>A	4.37:g.140641195G>T	ENSP00000421180:p.Pro900Gln		Somatic				MGST2_ENST00000515137.1_Intron	p.P900Q	NM_018717.4	NP_061187	WXS	Illumina GAIIx	Phase_I	Q96JK9	MAML3_HUMAN			5	3555	-	all_hematologic(180;0.162)		896			Gln-rich.			Missense_Mutation	SNP	ENST00000509479.2	37	c.2699C>A	CCDS54805.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709537	0.48517	.	.	ENSG00000196782	ENST00000509479;ENST00000538400	T	0.23950	1.88	5.81	5.81	0.92471	.	0.066162	0.64402	D	0.000016	T	0.33644	0.0870	L	0.41710	1.295	0.80722	D	1	P;P	0.52842	0.956;0.956	P;P	0.52217	0.693;0.62	T	0.01249	-1.1406	10	0.13853	T	0.58	.	20.0804	0.97772	0.0:0.0:1.0:0.0	.	900;896	E7EVW8;Q96JK9	.;MAML3_HUMAN	Q	900;207	ENSP00000421180:P900Q	ENSP00000421180:P900Q	P	-	2	0	MAML3	140860645	1.000000	0.71417	0.996000	0.52242	0.835000	0.47333	4.376000	0.59556	2.738000	0.93877	0.655000	0.94253	CCG		0.522	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			7	414	7	414	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151356741	151356741	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:151356741C>A	ENST00000357115.3	-	47	7317	c.7074G>T	c.(7072-7074)aaG>aaT	p.K2358N	LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000535741.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N|LRBA_ENST00000503716.1_5'UTR	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2358	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCTGTACCTTAATATCAG	0.358																																						ENST00000535741.1																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(7039-7041)aaG>aaT		LPS-responsive vesicle trafficking, beach and anchor containing							98.0	106.0	103.0					4																	151356741		2203	4300	6503	SO:0001630	splice_region_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151356741C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7074+1G>T	4.37:g.151356741C>A			Somatic				LRBA_ENST00000357115.3_Splice_Site_p.K2358N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Splice_Site_p.K2347N|LRBA_ENST00000510413.1_Splice_Site_p.K2347N	p.K2347N			WXS	Illumina GAIIx	Phase_I	P50851	LRBA_HUMAN			46	7514	-	all_hematologic(180;0.151)		2358			BEACH.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Splice_Site	SNP	ENST00000357115.3	37	c.7041G>T	CCDS3773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.095822|5.095822	0.94197|0.94197	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224|ENST00000509835	T;T;T;T|.	0.81415|.	-1.49;-1.49;-1.49;-1.49|.	5.2|5.2	5.2|5.2	0.72013|0.72013	BEACH domain (4);|.	0.169480|.	0.49916|.	D|.	0.000124|.	D|D	0.86602|0.86602	0.5972|0.5972	M|M	0.92880|0.92880	3.355|3.355	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.987|.	D|D	0.89725|0.89725	0.3922|0.3922	9|5	.|.	.|.	.|.	.|.	19.0835|19.0835	0.93192|0.93192	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2358;2347;248|.	P50851;P50851-2;Q68D03|.	LRBA_HUMAN;.;.|.	N|M	2347;2347;2358;2347|1000	ENSP00000446299:K2347N;ENSP00000421552:K2347N;ENSP00000349629:K2358N;ENSP00000422180:K2347N|.	.|.	K|R	-|-	3|2	2|0	LRBA|LRBA	151576191|151576191	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.701000|7.701000	0.84566|0.84566	2.574000|2.574000	0.86865|0.86865	0.591000|0.591000	0.81541|0.81541	AAG|AGG		0.358	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1		Missense_Mutation	7	139	7	139	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183522255	183522255	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr4:183522255C>A	ENST00000511685.1	+	4	813	c.690C>A	c.(688-690)ccC>ccA	p.P230P	TENM3_ENST00000406950.2_Silent_p.P230P			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	230	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AAACCACACCCGAGTCCGTCC	0.527																																						ENST00000511685.1																			0											c.(688-690)ccC>ccA		teneurin transmembrane protein 3							75.0	83.0	80.0					4																	183522255		1888	4105	5993	SO:0001819	synonymous_variant	55714							g.chr4:183522255C>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.690C>A	4.37:g.183522255C>A			Somatic				TENM3_ENST00000406950.2_Silent_p.P230P	p.P230P			WXS	Illumina GAIIx	Phase_I					4	813	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	c.690C>A	CCDS47165.1																																																																																				0.527	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	146	5	146	---	---	---	---
C5orf55	116349	broad.mit.edu	37	5	442821	442821	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:442821C>A	ENST00000408966.2	-	1	437	c.117G>T	c.(115-117)gcG>gcT	p.A39A	EXOC3_ENST00000512944.1_5'Flank	NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	39						extracellular region (GO:0005576)				large_intestine(1)|lung(2)	3						CAACCTTCTCCGCTTTGGTTT	0.602																																						ENST00000408966.2																			0				large_intestine(1)|lung(2)	3						c.(115-117)gcG>gcT		chromosome 5 open reading frame 55							139.0	154.0	149.0					5																	442821		1968	4150	6118	SO:0001819	synonymous_variant	116349					extracellular region		g.chr5:442821C>A	BC014011	CCDS43298.1	5p15.33	2012-02-24			ENSG00000221990	ENSG00000221990			25175	protein-coding gene	gene with protein product						12477932	Standard	NM_138464		Approved		uc010ita.3	Q8N2X6	OTTHUMG00000162235	ENST00000408966.2:c.117G>T	5.37:g.442821C>A			Somatic					p.A39A	NM_138464.2	NP_612473.1	WXS	Illumina GAIIx	Phase_I	Q8N2X6	CE055_HUMAN			1	437	-			39					Q96CR9	Silent	SNP	ENST00000408966.2	37	c.117G>T	CCDS43298.1																																																																																				0.602	C5orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368033.1	NM_138464		7	246	7	246	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879725	1879725	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:1879725G>T	ENST00000505790.1	-	5	1085	c.629C>A	c.(628-630)cCg>cAg	p.P210Q	IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	210					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CTTGTTCCGCGGCGGCCACGT	0.662																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(628-630)cCg>cAg		iroquois homeobox 4							58.0	53.0	55.0					5																	1879725		2203	4300	6503	SO:0001583	missense	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879725G>T	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.629C>A	5.37:g.1879725G>T	ENSP00000423161:p.Pro210Gln		Somatic				IRX4_ENST00000231357.2_Missense_Mutation_p.P210Q|IRX4_ENST00000513692.1_Missense_Mutation_p.P210Q|IRX4_ENST00000505938.1_5'UTR	p.P210Q	NM_001278634.1	NP_001265563.1	WXS	Illumina GAIIx	Phase_I	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1085	-			210					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Missense_Mutation	SNP	ENST00000505790.1	37	c.629C>A	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445931	0.63178	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	D;D;D	0.83837	-1.77;-1.77;-1.77	4.17	4.17	0.49024	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.88973	0.6583	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89996	0.4111	10	0.62326	D	0.03	-23.7931	15.4132	0.74943	0.0:0.0:1.0:0.0	.	210	P78413	IRX4_HUMAN	Q	210	ENSP00000231357:P210Q;ENSP00000423161:P210Q;ENSP00000424235:P210Q	ENSP00000231357:P210Q	P	-	2	0	IRX4	1932725	1.000000	0.71417	0.503000	0.27626	0.758000	0.43043	9.259000	0.95561	2.156000	0.67533	0.462000	0.41574	CCG		0.662	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		4	55	4	55	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	21751918	21751918	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:21751918C>A	ENST00000382254.1	-	15	3399	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	771					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCGGGGTCCCCAGTCTGTCA	0.502										HNSCC(59;0.17)																												ENST00000382254.1																			0				NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(2311-2313)tgG>tgT		cadherin 12, type 2 (N-cadherin 2)							101.0	98.0	99.0					5																	21751918		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21751918C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2313G>T	5.37:g.21751918C>A	ENSP00000371689:p.Trp771Cys	HNSCC(59;0.17)	Somatic				CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.W731C|CDH12_ENST00000504376.2_Missense_Mutation_p.W771C|RP11-804N13.1_ENST00000522350.1_RNA	p.W771C	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			15	3399	-			771					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.2313G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642013	0.67244	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	D;D;D	0.83506	-1.73;-1.73;-1.73	5.18	5.18	0.71444	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93648	0.7971	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.95184	0.8302	10	0.87932	D	0	.	18.6788	0.91539	0.0:1.0:0.0:0.0	.	731;771	B7Z2U6;P55289	.;CAD12_HUMAN	C	771;771;731	ENSP00000423577:W771C;ENSP00000371689:W771C;ENSP00000428786:W731C	ENSP00000371689:W771C	W	-	3	0	CDH12	21787675	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.818000	0.86416	2.413000	0.81919	0.467000	0.42956	TGG		0.502	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		6	117	6	117	---	---	---	---
CDH12	1010	broad.mit.edu	37	5	22078761	22078761	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:22078761G>T	ENST00000382254.1	-	5	1111	c.25C>A	c.(25-27)Ctg>Atg	p.L9M	CDH12_ENST00000504376.2_Missense_Mutation_p.L9M|CDH12_ENST00000522262.1_Missense_Mutation_p.L9M	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	9					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L9M(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CAGAGAAGCAGGGATAAACAG	0.438										HNSCC(59;0.17)																												ENST00000382254.1																			1	Substitution - Missense(1)	p.L9M(1)	lung(1)	NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(25-27)Ctg>Atg		cadherin 12, type 2 (N-cadherin 2)							139.0	143.0	142.0					5																	22078761		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:22078761G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.25C>A	5.37:g.22078761G>T	ENSP00000371689:p.Leu9Met	HNSCC(59;0.17)	Somatic				CDH12_ENST00000522262.1_Missense_Mutation_p.L9M|CDH12_ENST00000504376.2_Missense_Mutation_p.L9M	p.L9M	NM_004061.3	NP_004052.2	WXS	Illumina GAIIx	Phase_I	P55289	CAD12_HUMAN			5	1111	-			9					B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.25C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261287	0.80246	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.62364	0.24;0.24;0.03	5.67	5.67	0.87782	.	0.403570	0.25305	N	0.031628	T	0.61615	0.2361	N	0.08118	0	0.47547	D	0.999452	D;D	0.71674	0.998;0.998	D;D	0.80764	0.994;0.994	T	0.68044	-0.5513	10	0.66056	D	0.02	.	13.0309	0.58840	0.0733:0.0:0.9267:0.0	.	9;9	B7Z2U6;P55289	.;CAD12_HUMAN	M	9	ENSP00000423577:L9M;ENSP00000371689:L9M;ENSP00000428786:L9M	ENSP00000371689:L9M	L	-	1	2	CDH12	22114518	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.426000	0.80270	2.694000	0.91930	0.555000	0.69702	CTG		0.438	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		7	176	7	176	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32087269	32087269	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:32087269C>A	ENST00000438447.1	+	20	4103	c.3715C>A	c.(3715-3717)Cca>Aca	p.P1239T	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T			O15018	PDZD2_HUMAN	PDZ domain containing 2	1239					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATCTCTTCCCCAGGGAAGAA	0.552																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(3715-3717)Cca>Aca		PDZ domain containing 2							77.0	85.0	82.0					5																	32087269		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32087269C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.3715C>A	5.37:g.32087269C>A	ENSP00000402033:p.Pro1239Thr		Somatic				PDZD2_ENST00000282493.3_Missense_Mutation_p.P1239T	p.P1239T			WXS	Illumina GAIIx	Phase_I	O15018	PDZD2_HUMAN			20	4103	+			1239					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.3715C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.361740	0.41801	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06687	3.27;3.27	3.89	3.02	0.34903	.	1.230650	0.06131	N	0.670723	T	0.13286	0.0322	L	0.50333	1.59	0.09310	N	1	D	0.58268	0.982	P	0.50314	0.637	T	0.19647	-1.0299	10	0.17832	T	0.49	.	7.506	0.27545	0.0:0.8845:0.0:0.1155	.	1239	O15018	PDZD2_HUMAN	T	1239;1040;1239	ENSP00000402033:P1239T;ENSP00000282493:P1239T	ENSP00000282493:P1239T	P	+	1	0	PDZD2	32123026	0.001000	0.12720	0.023000	0.16930	0.002000	0.02628	0.764000	0.26532	1.220000	0.43490	-0.136000	0.14681	CCA		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	122	6	122	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34823167	34823167	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:34823167C>A	ENST00000265109.3	+	15	1507	c.1220C>A	c.(1219-1221)cCa>cAa	p.P407Q	RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	407						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACCTCTCCCCCAGACTCCAAA	0.458																																						ENST00000265109.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(1219-1221)cCa>cAa		retinoic acid induced 14							85.0	87.0	86.0					5																	34823167		2203	4300	6503	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34823167C>A	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1220C>A	5.37:g.34823167C>A	ENSP00000265109:p.Pro407Gln		Somatic				RAI14_ENST00000512629.1_Missense_Mutation_p.P378Q|RAI14_ENST00000397449.1_Missense_Mutation_p.P400Q|RAI14_ENST00000506376.1_Missense_Mutation_p.P399Q|RAI14_ENST00000428746.2_Missense_Mutation_p.P407Q|RAI14_ENST00000515799.1_Missense_Mutation_p.P410Q|RAI14_ENST00000503673.1_Missense_Mutation_p.P407Q	p.P407Q	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	WXS	Illumina GAIIx	Phase_I	Q9P0K7	RAI14_HUMAN			15	1507	+	all_lung(31;0.000191)		407					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1220C>A	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	C	0.336	-0.953403	0.02285	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35421	1.37;1.31;1.37;1.37;1.37;1.41;1.4	4.91	4.05	0.47172	.	.	.	.	.	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.001;0.002;0.001	T	0.14868	-1.0457	9	0.26408	T	0.33	-0.4072	5.532	0.16990	0.1999:0.6299:0.0:0.1703	.	399;378;410;407	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	Q	407;378;407;407;410;399;400	ENSP00000265109:P407Q;ENSP00000422377:P378Q;ENSP00000388725:P407Q;ENSP00000422942:P407Q;ENSP00000427123:P410Q;ENSP00000423854:P399Q;ENSP00000380591:P400Q	ENSP00000265109:P407Q	P	+	2	0	RAI14	34858924	0.973000	0.33851	0.239000	0.24122	0.955000	0.61496	2.327000	0.43858	1.405000	0.46838	0.555000	0.69702	CCA		0.458	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		5	78	5	78	---	---	---	---
NSA2	10412	broad.mit.edu	37	5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368																																						ENST00000296802.5																			0				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						c.(406-408)Att>Ctt		NSA2 ribosome biogenesis homolog (S. cerevisiae)							85.0	86.0	86.0					5																	74066519		2203	4300	6503	SO:0001583	missense	10412				rRNA processing	nucleolus|ribonucleoprotein complex		g.chr5:74066519A>C	AF077615	CCDS4025.1, CCDS75260.1	5q13.3	2010-01-18			ENSG00000164346	ENSG00000164346			30728	protein-coding gene	gene with protein product	"""hairy cell leukemia protein 1"", ""TGF beta-inducible nuclear protein 1"""	612497				11124703, 10486207	Standard	NM_014886		Approved	HUSSY-29, HCLG1, FLJ94393, TINP1	uc003kdk.2	O95478	OTTHUMG00000131273	ENST00000296802.5:c.406A>C	5.37:g.74066519A>C	ENSP00000296802:p.Ile136Leu		Somatic				NSA2_ENST00000513356.1_3'UTR	p.I136L	NM_014886.3	NP_055701.1	WXS	Illumina GAIIx	Phase_I	O95478	NSA2_HUMAN			4	775	+			136			Lys-rich.			Missense_Mutation	SNP	ENST00000296802.5	37	c.406A>C	CCDS4025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.37|12.37	1.917195|1.917195	0.33815|0.33815	.|.	.|.	ENSG00000164346|ENSG00000164346	ENST00000296802|ENST00000515524	T|.	0.28666|.	1.6|.	5.63|5.63	4.46|4.46	0.54185|0.54185	.|.	0.043820|.	0.85682|.	D|.	0.000000|.	T|T	0.35595|0.35595	0.0937|0.0937	N|N	0.05050|0.05050	-0.12|-0.12	0.50632|0.50632	D|D	0.99988|0.99988	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.08472|0.08472	-1.0720|-1.0720	10|5	0.16896|.	T|.	0.51|.	.|.	14.1705|14.1705	0.65506|0.65506	0.9356:0.0:0.0644:0.0|0.9356:0.0:0.0644:0.0	.|.	136|.	O95478|.	NSA2_HUMAN|.	L|S	136|44	ENSP00000296802:I136L|.	ENSP00000296802:I136L|.	I|Y	+|+	1|2	0|0	NSA2|NSA2	74102275|74102275	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.947000|0.947000	0.59692|0.59692	4.761000|4.761000	0.62243|0.62243	0.484000|0.484000	0.27630|0.27630	-1.162000|-1.162000	0.01777|0.01777	ATT|TAT		0.368	NSA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254041.3	NM_014886		22	59	22	59	---	---	---	---
RASGRF2	5924	broad.mit.edu	37	5	80408628	80408628	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:80408628G>T	ENST00000265080.4	+	14	2105	c.2038G>T	c.(2038-2040)Ggg>Tgg	p.G680W	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	680	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGTGCTGGGGAAACTCTC	0.488																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2038-2040)Ggg>Tgg		Ras protein-specific guanine nucleotide-releasing factor 2							139.0	133.0	135.0					5																	80408628		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408628G>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2038G>T	5.37:g.80408628G>T	ENSP00000265080:p.Gly680Trp		Somatic					p.G680W	NM_006909.2	NP_008840.1	WXS	Illumina GAIIx	Phase_I	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	2105	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	680			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2038G>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225105	0.58668	.	.	ENSG00000113319	ENST00000265080	T	0.32023	1.47	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.367187	0.32868	N	0.005554	T	0.20007	0.0481	N	0.03608	-0.345	0.40732	D	0.98275	B	0.21520	0.057	B	0.24974	0.057	T	0.16217	-1.0410	10	0.87932	D	0	.	19.6839	0.95973	0.0:0.0:1.0:0.0	.	680	O14827	RGRF2_HUMAN	W	680	ENSP00000265080:G680W	ENSP00000265080:G680W	G	+	1	0	RASGRF2	80444384	1.000000	0.71417	0.973000	0.42090	0.681000	0.39784	7.945000	0.87732	2.752000	0.94435	0.558000	0.71614	GGG		0.488	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		7	132	7	132	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90024597	90024597	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:90024597C>A	ENST00000405460.2	+	49	10369	c.10273C>A	c.(10273-10275)Cag>Aag	p.Q3425K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3425					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCATTTCCCAGGCTAATGC	0.498																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(10273-10275)Cag>Aag		G protein-coupled receptor 98							118.0	114.0	115.0					5																	90024597		1961	4134	6095	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90024597C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10273C>A	5.37:g.90024597C>A	ENSP00000384582:p.Gln3425Lys		Somatic					p.Q3425K	NM_032119.3	NP_115495.3	WXS	Illumina GAIIx	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	49	10369	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3425					O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.10273C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	11.13	1.546889	0.27652	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	D	0.83075	-1.68	5.47	5.47	0.80525	.	0.405916	0.27526	N	0.018978	T	0.76652	0.4017	L	0.54323	1.7	0.80722	D	1	B;B	0.24651	0.108;0.086	B;B	0.27076	0.076;0.056	T	0.68296	-0.5446	10	0.02654	T	1	.	13.0768	0.59091	0.0:0.9164:0.0:0.0836	.	3425;3425	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	3425	ENSP00000384582:Q3425K	ENSP00000296619:Q3425K	Q	+	1	0	GPR98	90060353	0.898000	0.30612	0.982000	0.44146	0.814000	0.46013	3.707000	0.54838	2.571000	0.86741	0.563000	0.77884	CAG		0.498	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		5	116	5	116	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109159447	109159447	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:109159447C>A	ENST00000261483.4	+	16	3527	c.2475C>A	c.(2473-2475)ccC>ccA	p.P825P		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	825					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAACACCGCCCTTTGTCAGAG	0.328																																						ENST00000261483.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2473-2475)ccC>ccA		mannosidase, alpha, class 2A, member 1							118.0	110.0	113.0					5																	109159447		2202	4300	6502	SO:0001819	synonymous_variant	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109159447C>A		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.2475C>A	5.37:g.109159447C>A			Somatic					p.P825P	NM_002372.2	NP_002363.2	WXS	Illumina GAIIx	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	16	3527	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	825					Q16767	Silent	SNP	ENST00000261483.4	37	c.2475C>A	CCDS34209.1																																																																																				0.328	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			6	91	6	91	---	---	---	---
DCP2	167227	broad.mit.edu	37	5	112337354	112337354	+	Silent	SNP	C	C	A	rs373708284		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:112337354C>A	ENST00000389063.2	+	7	987	c.789C>A	c.(787-789)ccC>ccA	p.P263P	DCP2_ENST00000515408.1_Silent_p.P263P|DCP2_ENST00000543319.1_Silent_p.P52P	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	263					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CGGCTAAACCCACTGTGGAAA	0.383																																						ENST00000389063.2																			0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(787-789)ccC>ccA		decapping mRNA 2							120.0	130.0	127.0					5																	112337354		2202	4300	6502	SO:0001819	synonymous_variant	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112337354C>A	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.789C>A	5.37:g.112337354C>A			Somatic				DCP2_ENST00000543319.1_Silent_p.P52P|DCP2_ENST00000515408.1_Silent_p.P263P	p.P263P	NM_152624.5	NP_689837	WXS	Illumina GAIIx	Phase_I	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	7	987	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	263					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Silent	SNP	ENST00000389063.2	37	c.789C>A	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	C	8.187	0.795065	0.16327	.	.	ENSG00000172795	ENST00000513585	.	.	.	5.79	1.54	0.23209	.	.	.	.	.	T	0.54046	0.1834	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44019	-0.9355	4	.	.	.	-7.771	6.7052	0.23246	0.1181:0.5989:0.0:0.283	.	.	.	.	N	245	.	.	H	+	1	0	DCP2	112365253	0.970000	0.33590	0.998000	0.56505	0.979000	0.70002	-0.004000	0.12878	0.375000	0.24679	0.643000	0.83706	CAC		0.383	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	NM_152624		6	236	6	236	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127648420	127648420	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:127648420G>T	ENST00000508053.1	-	43	5759	c.4785C>A	c.(4783-4785)acC>acA	p.T1595T	FBN2_ENST00000262464.4_Silent_p.T1595T			P35556	FBN2_HUMAN	fibrillin 2	1595	TB 6.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T1595T(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCCCGATCTCGGTGTTGCAAG	0.562																																						ENST00000508053.1																			2	Substitution - coding silent(2)	p.T1595T(2)	lung(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(4783-4785)acC>acA		fibrillin 2							230.0	232.0	231.0					5																	127648420		2203	4300	6503	SO:0001819	synonymous_variant	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127648420G>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.4785C>A	5.37:g.127648420G>T			Somatic				FBN2_ENST00000262464.4_Silent_p.T1595T	p.T1595T			WXS	Illumina GAIIx	Phase_I	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	43	5759	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1595			TB 6.		B4DU01|Q59ES6	Silent	SNP	ENST00000508053.1	37	c.4785C>A	CCDS34222.1																																																																																				0.562	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		8	314	8	314	---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134705107	134705107	+	Silent	SNP	G	G	T	rs200273395		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:134705107G>T	ENST00000511689.1	-	4	1059	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000304332.4_Silent_p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	156	Lys-rich.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGATTTCCGGGCCCCTTTC	0.517																																						ENST00000511689.1																			0				endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						c.(466-468)Cgg>Agg		H2A histone family, member Y							242.0	264.0	257.0					5																	134705107		2203	4300	6503	SO:0001819	synonymous_variant	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134705107G>T	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.466C>A	5.37:g.134705107G>T			Somatic				H2AFY_ENST00000312469.4_Silent_p.R156R|H2AFY_ENST00000510038.1_Silent_p.R156R|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Silent_p.R156R	p.R156R	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	WXS	Illumina GAIIx	Phase_I	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1059	-			156			Lys-rich.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Silent	SNP	ENST00000511689.1	37	c.466C>A	CCDS4185.1																																																																																				0.517	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		7	396	7	396	---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137495792	137495792	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:137495792C>A	ENST00000254900.5	-	19	2869	c.2498G>T	c.(2497-2499)aGa>aTa	p.R833I	BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000515014.1_5'Flank	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	833					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGAATCTCTCCCTCGAAG	0.498																																						ENST00000254900.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(2497-2499)aGa>aTa		bromodomain containing 8							166.0	147.0	153.0					5																	137495792		2203	4300	6503	SO:0001583	missense	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137495792C>A	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.2498G>T	5.37:g.137495792C>A	ENSP00000254900:p.Arg833Ile		Somatic				BRD8_ENST00000455658.2_Missense_Mutation_p.R792I|BRD8_ENST00000402931.1_Missense_Mutation_p.R833I|BRD8_ENST00000411594.2_Missense_Mutation_p.R836I|BRD8_ENST00000230901.5_Missense_Mutation_p.R906I	p.R833I	NM_139199.1	NP_631938	WXS	Illumina GAIIx	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		19	2869	-			833					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	ENST00000254900.5	37	c.2498G>T	CCDS4198.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.389046|5.389046	0.95988|0.95988	.|.	.|.	ENSG00000112983|ENSG00000112983	ENST00000441656|ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658	.|T;T;T;T;T;T;T	.|0.36699	.|1.59;1.24;1.24;1.39;1.37;1.24;1.36	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.50956	.|0.1646	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;0.999;0.997;0.999;0.998;0.998;0.999	.|D;D;D;D;D;D;D;D	.|0.87578	.|0.998;0.996;0.992;0.974;0.997;0.992;0.995;0.994	.|T	.|0.52533	.|-0.8563	.|10	.|0.87932	.|D	.|0	-9.4541|-9.4541	17.4533|17.4533	0.87599|0.87599	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|792;817;612;906;836;727;906;833	.|F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.|.;.;.;.;.;.;.;BRD8_HUMAN	X|I	827|833;862;831;906;833;836;727;792	.|ENSP00000254900:R833I;ENSP00000398067:R862I;ENSP00000398873:R831I;ENSP00000230901:R906I;ENSP00000384845:R833I;ENSP00000394330:R836I;ENSP00000408396:R792I	.|ENSP00000230901:R906I	E|R	-|-	1|2	0|0	BRD8|BRD8	137523691|137523691	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.477000|7.477000	0.81069|0.81069	2.704000|2.704000	0.92352|0.92352	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.498	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		7	164	7	164	---	---	---	---
DNAJC18	202052	broad.mit.edu	37	5	138755831	138755831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:138755831C>A	ENST00000302060.5	-	7	943	c.863G>T	c.(862-864)aGa>aTa	p.R288I		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	288						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGAAGCTCCTCTGTAGGCCTT	0.413																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(862-864)aGa>aTa		DnaJ (Hsp40) homolog, subfamily C, member 18							132.0	123.0	126.0					5																	138755831		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138755831C>A	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.863G>T	5.37:g.138755831C>A	ENSP00000302843:p.Arg288Ile		Somatic					p.R288I	NM_152686.3	NP_689899.1	WXS	Illumina GAIIx	Phase_I	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		7	943	-			288						Missense_Mutation	SNP	ENST00000302060.5	37	c.863G>T	CCDS4214.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.86|13.86	2.362448|2.362448	0.41902|0.41902	.|.	.|.	ENSG00000170464|ENSG00000170464	ENST00000514052|ENST00000302060;ENST00000508445	.|T;T	.|0.44083	.|0.93;0.93	5.68|5.68	4.7|4.7	0.59300|0.59300	.|Domain of unknown function DUF1977, DnaJ-like (1);	.|0.290281	.|0.38381	.|N	.|0.001702	.|T	.|0.37019	.|0.0988	L|L	0.48642|0.48642	1.525|1.525	0.58432|0.58432	D|D	0.999995|0.999995	.|P	.|0.40731	.|0.728	.|B	.|0.42959	.|0.403	.|T	.|0.09509	.|-1.0671	.|10	.|0.38643	.|T	.|0.18	-12.5242|-12.5242	8.0618|8.0618	0.30638|0.30638	0.0:0.8386:0.0:0.1614|0.0:0.8386:0.0:0.1614	.|.	.|288	.|Q9H819	.|DJC18_HUMAN	X|I	80|288;121	.|ENSP00000302843:R288I;ENSP00000426338:R121I	.|ENSP00000302843:R288I	E|R	-|-	1|2	0|0	DNAJC18|DNAJC18	138783730|138783730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.386000|0.386000	0.30323|0.30323	1.785000|1.785000	0.38684|0.38684	2.683000|2.683000	0.91414|0.91414	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.413	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		6	103	6	103	---	---	---	---
PCDHB3	56132	broad.mit.edu	37	5	140481720	140481720	+	Missense_Mutation	SNP	C	C	A	rs550662117		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140481720C>A	ENST00000231130.2	+	1	1487	c.1487C>A	c.(1486-1488)cCg>cAg	p.P496Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	496	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAGGACCCGCACCTGCCC	0.647																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1486-1488)cCg>cAg									64.0	70.0	68.0					5																	140481720		2202	4298	6500	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140481720C>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1487C>A	5.37:g.140481720C>A	ENSP00000231130:p.Pro496Gln		Somatic				AC005754.7_ENST00000607216.1_RNA	p.P496Q	NM_018937.2	NP_061760.1	WXS	Illumina GAIIx	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1487	+			496			Cadherin 5.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1487C>A	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.066244	0.01934	.	.	ENSG00000113205	ENST00000231130	T	0.64085	-0.08	3.92	0.408	0.16377	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38026	0.1025	N	0.11651	0.15	0.09310	N	1	B	0.32382	0.368	B	0.42653	0.394	T	0.36237	-0.9756	9	0.07990	T	0.79	.	0.4155	0.00448	0.2623:0.2861:0.2398:0.2118	.	496	Q9Y5E6	PCDB3_HUMAN	Q	496	ENSP00000231130:P496Q	ENSP00000231130:P496Q	P	+	2	0	PCDHB3	140461904	0.000000	0.05858	0.132000	0.22025	0.027000	0.11550	-0.690000	0.05138	0.243000	0.21327	-0.220000	0.12472	CCG		0.647	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		6	174	6	174	---	---	---	---
PCDHGA12	26025	broad.mit.edu	37	5	140812030	140812030	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:140812030C>A	ENST00000252085.3	+	1	1846	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	568					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCCTCCCCACGGACGGTT	0.677																																						ENST00000252085.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58						c.(1702-1704)ccC>ccA									118.0	131.0	127.0					5																	140812030		2203	4300	6503	SO:0001819	synonymous_variant	26025							g.chr5:140812030C>A	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.1704C>A	5.37:g.140812030C>A			Somatic				PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron	p.P568P	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1846	+								O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.1704C>A	CCDS4260.1																																																																																				0.677	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		8	215	8	215	---	---	---	---
DPYSL3	1809	broad.mit.edu	37	5	146798139	146798139	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:146798139C>A	ENST00000398514.3	-	3	555	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000343218.5_Missense_Mutation_p.G176W	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	62					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCATCTTCCCATTGGCTTCA	0.433																																						ENST00000343218.5																			0				breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(526-528)Ggg>Tgg		dihydropyrimidinase-like 3							184.0	184.0	184.0					5																	146798139		2058	4221	6279	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146798139C>A	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.184G>T	5.37:g.146798139C>A	ENSP00000381526:p.Gly62Trp		Somatic				DPYSL3_ENST00000398514.3_Missense_Mutation_p.G62W|DPYSL3_ENST00000534907.1_Intron	p.G176W	NM_001197294.1	NP_001184223.1	WXS	Illumina GAIIx	Phase_I	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	723	-			62					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.526G>T	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	C	33	5.255211	0.95336	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.92647	-2.78;-2.85;-3.08	6.17	6.17	0.99709	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.99435	4.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98698	1.0699	10	0.87932	D	0	-12.9413	20.8794	0.99867	0.0:1.0:0.0:0.0	.	176;62	B3SXQ8;Q14195	.;DPYL3_HUMAN	W	62;176;62	ENSP00000381526:G62W;ENSP00000343690:G176W;ENSP00000426720:G62W	ENSP00000343690:G176W	G	-	1	0	DPYSL3	146778332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGG		0.433	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		7	228	7	228	---	---	---	---
HAVCR2	84868	broad.mit.edu	37	5	156514274	156514274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156514274C>A	ENST00000307851.4	-	7	1475	c.745G>T	c.(745-747)Gga>Tga	p.G249*	HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	249						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGCCAATCCTGAGGGAGGG	0.433																																						ENST00000307851.4																			0				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22						c.(745-747)Gga>Tga		hepatitis A virus cellular receptor 2							80.0	77.0	78.0					5																	156514274		2203	4300	6503	SO:0001587	stop_gained	84868					integral to membrane		g.chr5:156514274C>A	AK027334	CCDS4333.1	5q34	2014-01-14			ENSG00000135077	ENSG00000135077		"""Immunoglobulin superfamily / V-set domain containing"""	18437	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 3"""	606652				11823861	Standard	NM_032782		Approved	Tim-3, TIM3, FLJ14428, TIMD3	uc003lwk.2	Q8TDQ0	OTTHUMG00000130249	ENST00000307851.4:c.745G>T	5.37:g.156514274C>A	ENSP00000312002:p.Gly249*		Somatic				HAVCR2_ENST00000522593.1_Nonsense_Mutation_p.G221*	p.G249*	NM_032782.4	NP_116171.3	WXS	Illumina GAIIx	Phase_I	Q8TDQ0	HAVR2_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		7	1475	-	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	249					B2RAY2|Q8WW60|Q96K94	Nonsense_Mutation	SNP	ENST00000307851.4	37	c.745G>T	CCDS4333.1	.	.	.	.	.	.	.	.	.	.	C	39	7.846974	0.98522	.	.	ENSG00000135077	ENST00000307851;ENST00000522593	.	.	.	4.8	4.8	0.61643	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-25.0671	13.5678	0.61828	0.0:1.0:0.0:0.0	.	.	.	.	X	249;221	.	ENSP00000312002:G249X	G	-	1	0	HAVCR2	156446852	0.056000	0.20664	0.207000	0.23584	0.013000	0.08279	2.825000	0.48096	2.677000	0.91161	0.561000	0.74099	GGA		0.433	HAVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252574.2			5	74	5	74	---	---	---	---
ITK	3702	broad.mit.edu	37	5	156638318	156638318	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:156638318C>A	ENST00000422843.3	+	3	416	c.264C>A	c.(262-264)ctC>ctA	p.L88L	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	88	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ACAACTACCTCCTATATGTGT	0.507			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(262-264)ctC>ctA		IL2-inducible T-cell kinase							133.0	117.0	123.0					5																	156638318		2203	4300	6503	SO:0001819	synonymous_variant	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156638318C>A	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.264C>A	5.37:g.156638318C>A			Somatic				CTB-4E7.1_ENST00000519375.1_RNA	p.L88L	NM_005546.3	NP_005537.3	WXS	Illumina GAIIx	Phase_I	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	416	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	88			PH.		B2R752|Q32ML7	Silent	SNP	ENST00000422843.3	37	c.264C>A	CCDS4336.1																																																																																				0.507	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			7	148	7	148	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180432842	180432842	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:180432842C>A	ENST00000342868.6	+	8	1555	c.1371C>A	c.(1369-1371)ccC>ccA	p.P457P	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			AGGGGACTCCCATATTCATAT	0.512																																						ENST00000342868.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25						c.(1369-1371)ccC>ccA		butyrophilin-like 3							55.0	51.0	52.0					5																	180432842		1961	4157	6118	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180432842C>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1371C>A	5.37:g.180432842C>A			Somatic					p.P457P	NM_197975.2	NP_932079.1	WXS	Illumina GAIIx	Phase_I	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		8	1555	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	457			B30.2/SPRY.		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.1371C>A	CCDS47358.1																																																																																				0.512	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		4	28	4	28	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7542219	7542219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:7542219C>A	ENST00000379802.3	+	1	412	c.71C>A	c.(70-72)cCg>cAg	p.P24Q	DSP_ENST00000418664.2_Missense_Mutation_p.P24Q|RP3-512B11.3_ENST00000561592.1_RNA	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	24	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTCTGGCCCGGACCTGCGC	0.682																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(70-72)cCg>cAg		desmoplakin							11.0	12.0	12.0					6																	7542219		2183	4280	6463	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7542219C>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.71C>A	6.37:g.7542219C>A	ENSP00000369129:p.Pro24Gln		Somatic				DSP_ENST00000418664.2_Missense_Mutation_p.P24Q	p.P24Q	NM_004415.2	NP_004406.2	WXS	Illumina GAIIx	Phase_I	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	1	412	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	24			Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.71C>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.308195	0.40895	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.73575	-0.43;-0.76	3.67	3.67	0.42095	.	0.178533	0.26586	N	0.023556	T	0.60907	0.2305	N	0.08118	0	0.34902	D	0.746571	D;B	0.71674	0.998;0.024	D;B	0.69654	0.965;0.011	T	0.67348	-0.5693	10	0.38643	T	0.18	.	12.4079	0.55451	0.0:1.0:0.0:0.0	.	71;24	Q4LE79;P15924	.;DESP_HUMAN	Q	24	ENSP00000369129:P24Q;ENSP00000396591:P24Q	ENSP00000369129:P24Q	P	+	2	0	DSP	7487218	1.000000	0.71417	0.998000	0.56505	0.907000	0.53573	3.405000	0.52630	1.870000	0.54199	0.555000	0.69702	CCG		0.682	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		3	12	3	12	---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292081	17292081	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:17292081C>A	ENST00000379052.5	+	4	678	c.442C>A	c.(442-444)Cct>Act	p.P148T	RBM24_ENST00000425446.2_Missense_Mutation_p.P90T|RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	148	Ala-rich.				cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)	p.P103T(2)|p.P148T(1)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			CTCCACCACCCCTTACATTGA	0.592																																						ENST00000379052.5																			3	Substitution - Missense(3)	p.P103T(2)|p.P148T(1)	lung(2)|prostate(1)	endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13						c.(442-444)Cct>Act		RNA binding motif protein 24							73.0	84.0	80.0					6																	17292081		2182	4298	6480	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17292081C>A	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.442C>A	6.37:g.17292081C>A	ENSP00000368341:p.Pro148Thr		Somatic				RBM24_ENST00000318204.5_Missense_Mutation_p.P103T|RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000425446.2_Missense_Mutation_p.P90T	p.P148T	NM_001143942.1	NP_001137414.1	WXS	Illumina GAIIx	Phase_I	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	678	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	148			Ala-rich.		E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.442C>A	CCDS47378.1	.	.	.	.	.	.	.	.	.	.	C	30	5.052715	0.93793	.	.	ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204	T;T;T	0.19250	3.41;2.16;3.41	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.962	T	0.02345	-1.1173	10	0.23302	T	0.38	-3.7181	19.8414	0.96690	0.0:1.0:0.0:0.0	.	103;148	Q9BX46-2;Q9BX46	.;RBM24_HUMAN	T	148;90;103	ENSP00000368341:P148T;ENSP00000396898:P90T;ENSP00000319551:P103T	ENSP00000319551:P103T	P	+	1	0	RBM24	17400060	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	5.743000	0.68655	2.695000	0.91970	0.591000	0.81541	CCT		0.592	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		7	194	7	194	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30675940	30675940	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:30675940C>A	ENST00000376406.3	-	8	3063	c.2416G>T	c.(2416-2418)Ggg>Tgg	p.G806W	MDC1_ENST00000376405.2_Intron|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	806				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.G806W(1)		breast(2)|kidney(1)|ovary(1)	4						GTCTGCCTCCCTCTGCCTTGA	0.532								Other conserved DNA damage response genes																														ENST00000376406.3																			1	Substitution - Missense(1)	p.G806W(1)	lung(1)	breast(2)|kidney(1)|ovary(1)	4						c.(2416-2418)Ggg>Tgg	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1							214.0	214.0	214.0					6																	30675940		1510	2708	4218	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30675940C>A	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2416G>T	6.37:g.30675940C>A	ENSP00000365588:p.Gly806Trp		Somatic				MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	p.G806W	NM_014641.2	NP_055456.2	WXS	Illumina GAIIx	Phase_I	Q14676	MDC1_HUMAN			8	3063	-			806	Missing (in Ref. 2; CAH18685).				A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.2416G>T	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	c	16.58	3.163800	0.57476	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02916	4.11	4.96	4.96	0.65561	.	0.232106	0.22296	N	0.061934	T	0.04770	0.0129	L	0.51422	1.61	0.58432	D	0.999993	D	0.67145	0.996	P	0.62885	0.908	T	0.19418	-1.0306	10	0.72032	D	0.01	-3.2187	9.3723	0.38261	0.0:0.9027:0.0:0.0973	.	806	Q14676	MDC1_HUMAN	W	806	ENSP00000365588:G806W	ENSP00000365588:G806W	G	-	1	0	MDC1	30783919	0.130000	0.22417	0.035000	0.18076	0.918000	0.54935	1.837000	0.39201	2.283000	0.76528	0.457000	0.33378	GGG		0.532	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		8	222	8	222	---	---	---	---
CCHCR1	54535	broad.mit.edu	37	6	31118575	31118575	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31118575C>A	ENST00000376266.5	-	6	883	c.761G>T	c.(760-762)gGg>gTg	p.G254V	CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396268.3_Missense_Mutation_p.G343V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	254					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACTTGTTCCCCAACATATTT	0.537																																						ENST00000396268.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(1027-1029)gGg>gTg		coiled-coil alpha-helical rod protein 1							287.0	305.0	299.0					6																	31118575		1511	2709	4220	SO:0001583	missense	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31118575C>A	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.761G>T	6.37:g.31118575C>A	ENSP00000365442:p.Gly254Val		Somatic				CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000376266.5_Missense_Mutation_p.G254V|CCHCR1_ENST00000396263.2_Missense_Mutation_p.G254V|CCHCR1_ENST00000451521.2_Missense_Mutation_p.G307V	p.G343V	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina GAIIx	Phase_I	Q8TD31	CCHCR_HUMAN			6	1216	-			254					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	c.1028G>T	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	c	13.23	2.173754	0.38413	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	4.28	3.33	0.38152	.	0.145194	0.44097	D	0.000486	T	0.10594	0.0259	M	0.72118	2.19	0.52501	D	0.999957	D;D;D;D;D	0.89917	1.0;0.996;0.989;1.0;0.994	D;D;D;D;D	0.85130	0.996;0.971;0.943;0.997;0.934	T	0.00430	-1.1744	10	0.72032	D	0.01	-33.3852	9.3134	0.37919	0.0:0.7797:0.2203:0.0	.	254;254;254;307;343	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	V	343;254;254;254;307	ENSP00000379566:G343V;ENSP00000365442:G254V;ENSP00000379561:G254V;ENSP00000401039:G307V	ENSP00000365442:G254V	G	-	2	0	CCHCR1	31226554	0.999000	0.42202	0.812000	0.32479	0.371000	0.29859	2.383000	0.44354	1.968000	0.57251	0.274000	0.19336	GGG		0.537	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052		10	345	10	345	---	---	---	---
LTA	4049	broad.mit.edu	37	6	31541429	31541429	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31541429C>A	ENST00000454783.1	+	4	835	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	LTA_ENST00000418386.2_Missense_Mutation_p.L193I|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	193					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCACCTAGTCCTCAGCCCTAG	0.522																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(577-579)Ctc>Atc		lymphotoxin alpha	Etanercept(DB00005)						156.0	154.0	155.0					6																	31541429		2203	4300	6503	SO:0001583	missense	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541429C>A	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.577C>A	6.37:g.31541429C>A	ENSP00000403495:p.Leu193Ile		Somatic				LTA_ENST00000418386.2_Missense_Mutation_p.L193I	p.L193I	NM_001159740.2	NP_001153212.1	WXS	Illumina GAIIx	Phase_I	P01374	TNFB_HUMAN			4	835	+			193					Q8N4C3|Q9UKS8	Missense_Mutation	SNP	ENST00000454783.1	37	c.577C>A	CCDS4701.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.388749	0.25118	.	.	ENSG00000226979	ENST00000454783;ENST00000418386	D;D	0.94862	-3.54;-3.54	5.69	3.72	0.42706	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.525769	0.20225	N	0.096604	D	0.83372	0.5240	L	0.34521	1.04	0.23266	N	0.998019	B	0.33280	0.405	B	0.37888	0.26	T	0.75852	-0.3171	10	0.46703	T	0.11	-26.1818	5.415	0.16368	0.0:0.6753:0.2005:0.1242	.	193	P01374	TNFB_HUMAN	I	193	ENSP00000403495:L193I;ENSP00000413450:L193I	ENSP00000413450:L193I	L	+	1	0	LTA	31649408	0.014000	0.17966	0.940000	0.37924	0.501000	0.33797	0.068000	0.14531	0.566000	0.29273	0.655000	0.94253	CTC		0.522	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			8	207	8	207	---	---	---	---
HSPA1A	3303	broad.mit.edu	37	6	31785376	31785376	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:31785376G>T	ENST00000375651.5	+	1	2086	c.1843G>T	c.(1843-1845)Ggt>Tgt	p.G615C	HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C|HSPA1L_ENST00000417199.3_5'Flank|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	615					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						CCAGGGTGCCGGTGGTCCCGG	0.622																																						ENST00000375651.5																			0				endometrium(1)|ovary(1)|stomach(1)	3						c.(1843-1845)Ggt>Tgt		heat shock 70kDa protein 1A							55.0	60.0	59.0					6																	31785376		1713	3501	5214	SO:0001583	missense	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785376G>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1843G>T	6.37:g.31785376G>T	ENSP00000364802:p.Gly615Cys		Somatic				HSPA1A_ENST00000608703.1_Missense_Mutation_p.G450C|HSPA1A_ENST00000458062.2_Missense_Mutation_p.G524C	p.G615C	NM_005345.5	NP_005336.3	WXS	Illumina GAIIx	Phase_I	P08107	HSP71_HUMAN			1	2086	+			615					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	ENST00000375651.5	37	c.1843G>T	CCDS34414.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.532055	0.27387	.	.	ENSG00000204389	ENST00000375651;ENST00000375652;ENST00000541556;ENST00000458062	T;T	0.16743	2.32;2.32	3.73	2.83	0.33086	.	0.974000	0.08349	N	0.959596	T	0.27663	0.0680	H	0.95187	3.635	0.42471	D	0.992824	D;B	0.61697	0.99;0.003	P;B	0.47573	0.55;0.003	T	0.48969	-0.8987	10	0.66056	D	0.02	-6.2112	10.3011	0.43653	0.0:0.0:0.801:0.199	.	615;450	P08107;Q5SP16	HSP71_HUMAN;.	C	615;450;597;524	ENSP00000364802:G615C;ENSP00000402651:G524C	ENSP00000364802:G615C	G	+	1	0	HSPA1A	31893355	1.000000	0.71417	0.362000	0.25862	0.074000	0.17049	6.172000	0.71932	0.891000	0.36235	0.460000	0.39030	GGT		0.622	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2			5	114	5	114	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32164199	32164199	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:32164199C>A	ENST00000375023.3	-	29	5339		c.e29-1		NOTCH4_ENST00000443903.2_Intron|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCAGTTTTCCCTAGGGGACGA	0.657																																						ENST00000375023.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.e29-1		notch 4							67.0	76.0	73.0					6																	32164199		1509	2708	4217	SO:0001630	splice_region_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32164199C>A		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5201-1G>T	6.37:g.32164199C>A			Somatic				NOTCH4_ENST00000443903.2_Intron		NM_004557.3	NP_004548.3	WXS	Illumina GAIIx	Phase_I	Q99466	NOTC4_HUMAN			29	5339	-								B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Splice_Site	SNP	ENST00000375023.3	37		CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759773	0.69763	.	.	ENSG00000204301	ENST00000375023	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.203	0.73157	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH4	32272177	1.000000	0.71417	0.995000	0.50966	0.509000	0.34042	6.837000	0.75354	2.529000	0.85273	0.655000	0.94253	.		0.657	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		Intron	6	110	6	110	---	---	---	---
RPS10	6204	broad.mit.edu	37	6	34389548	34389548	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:34389548C>A	ENST00000326199.8	-	4	452	c.359G>T	c.(358-360)gGg>gTg	p.G120V	RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR|RPS10-NUDT3_ENST00000605528.1_Missense_Mutation_p.G120V	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	120					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						GTCAGCTTCCCCTCTTGTGAG	0.498																																					Colon(121;749 1624 4895 8687 22360)	ENST00000605528.1																			0											c.(358-360)gGg>gTg									237.0	240.0	239.0					6																	34389548		2203	4300	6503	SO:0001583	missense	100529239							g.chr6:34389548C>A	U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"""S ribosomal proteins"""	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.359G>T	6.37:g.34389548C>A	ENSP00000347271:p.Gly120Val		Somatic				RPS10_ENST00000344700.3_Missense_Mutation_p.G120V|RPS10_ENST00000326199.8_Missense_Mutation_p.G120V|RPS10_ENST00000494077.1_5'UTR	p.G120V	NM_001202470.2	NP_001189399.1	WXS	Illumina GAIIx	Phase_I					4	375	-								B2R4E3|Q5TZC0	Missense_Mutation	SNP	ENST00000326199.8	37	c.359G>T	CCDS4792.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373341	0.82573	.	.	ENSG00000124614	ENST00000326199;ENST00000344700	T;T	0.78816	-1.18;-1.21	5.32	5.32	0.75619	.	0.061056	0.64402	D	0.000005	T	0.80287	0.4595	M	0.81239	2.535	0.80722	D	1	P	0.45283	0.855	P	0.47573	0.55	T	0.80701	-0.1265	10	0.41790	T	0.15	-18.1051	19.3633	0.94451	0.0:1.0:0.0:0.0	.	120	P46783	RS10_HUMAN	V	120	ENSP00000347271:G120V;ENSP00000363169:G120V	ENSP00000347271:G120V	G	-	2	0	RPS10	34497526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.888000	0.69758	2.651000	0.90000	0.591000	0.81541	GGG		0.498	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040230.1			8	331	8	331	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35213840	35213840	+	Missense_Mutation	SNP	C	C	A	rs142335824	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:35213840C>A	ENST00000274938.7	+	20	2719	c.2719C>A	c.(2719-2721)Cgt>Agt	p.R907S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CAACAGCGCCCGTGGCTTCCA	0.542																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(2719-2721)Cgt>Agt		signal peptide, CUB domain, EGF-like 3							144.0	148.0	147.0					6																	35213840		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213840C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2719C>A	6.37:g.35213840C>A	ENSP00000274938:p.Arg907Ser		Somatic				SCUBE3_ENST00000394681.1_Missense_Mutation_p.R923S	p.R907S	NM_152753.2	NP_689966.2	WXS	Illumina GAIIx	Phase_I	Q8IX30	SCUB3_HUMAN			20	2719	+			907			CUB.			Missense_Mutation	SNP	ENST00000274938.7	37	c.2719C>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	19.30	3.800654	0.70567	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;T	0.17691	2.26;2.26	5.63	4.68	0.58851	CUB (5);	0.000000	0.85682	D	0.000000	T	0.21145	0.0509	L	0.28054	0.825	0.47659	D	0.999488	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.02437	-1.1159	10	0.87932	D	0	.	15.5773	0.76400	0.2218:0.7782:0.0:0.0	.	923;907	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	923;907	ENSP00000378174:R923S;ENSP00000274938:R907S	ENSP00000274938:R907S	R	+	1	0	SCUBE3	35321818	0.995000	0.38212	1.000000	0.80357	0.979000	0.70002	1.636000	0.37144	2.659000	0.90383	0.650000	0.86243	CGT		0.542	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		6	169	6	169	---	---	---	---
STK38	11329	broad.mit.edu	37	6	36467677	36467677	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:36467677C>A	ENST00000229812.7	-	10	1210	c.925G>T	c.(925-927)Ggg>Tgg	p.G309W		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATCACCCCAAGCGACCAC	0.478																																					Colon(180;997 3561 16158)	ENST00000229812.7																			0				NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(925-927)Ggg>Tgg		serine/threonine kinase 38							229.0	188.0	202.0					6																	36467677		2203	4300	6503	SO:0001583	missense	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36467677C>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.925G>T	6.37:g.36467677C>A	ENSP00000229812:p.Gly309Trp		Somatic					p.G309W	NM_007271.2	NP_009202.1	WXS	Illumina GAIIx	Phase_I	Q15208	STK38_HUMAN			10	1210	-			309			Protein kinase.			Missense_Mutation	SNP	ENST00000229812.7	37	c.925G>T	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588190	0.86851	.	.	ENSG00000112079	ENST00000229812	D	0.82255	-1.59	5.67	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044508	0.85682	D	0.000000	D	0.93798	0.8017	H	0.98664	4.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96029	0.9015	10	0.87932	D	0	.	14.5975	0.68417	0.0:0.93:0.0:0.07	.	309	Q15208	STK38_HUMAN	W	309	ENSP00000229812:G309W	ENSP00000229812:G309W	G	-	1	0	STK38	36575655	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.818000	0.86416	1.401000	0.46761	0.655000	0.94253	GGG		0.478	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271		6	126	6	126	---	---	---	---
KLHDC3	116138	broad.mit.edu	37	6	42986383	42986383	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:42986383G>T	ENST00000326974.4	+	7	941	c.746G>T	c.(745-747)gGg>gTg	p.G249V	KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V|RRP36_ENST00000244496.5_5'Flank|KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	249					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCTACAATGGGGAGCTGTAC	0.512																																						ENST00000326974.4																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(745-747)gGg>gTg		kelch domain containing 3							226.0	234.0	231.0					6																	42986383		2203	4300	6503	SO:0001583	missense	116138				reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding	g.chr6:42986383G>T	AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.746G>T	6.37:g.42986383G>T	ENSP00000313995:p.Gly249Val		Somatic				KLHDC3_ENST00000332245.8_Missense_Mutation_p.G190V|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G115V	p.G249V	NM_057161.3	NP_476502.1	WXS	Illumina GAIIx	Phase_I	Q9BQ90	KLDC3_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		7	941	+			249					A8K2W9	Missense_Mutation	SNP	ENST00000326974.4	37	c.746G>T	CCDS4880.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601266	0.87055	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000244670;ENST00000394096;ENST00000426116;ENST00000332245	T;T;T	0.72051	-0.62;-0.62;-0.62	5.54	5.54	0.83059	.	0.050890	0.85682	D	0.000000	D	0.87853	0.6282	H	0.95816	3.725	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.79108	0.992;0.991;0.988;0.991	D	0.91045	0.4874	10	0.87932	D	0	-5.0592	17.6498	0.88159	0.0:0.0:1.0:0.0	.	249;190;115;249	E7ENU0;E7ERR0;F8W6A4;Q9BQ90	.;.;.;KLDC3_HUMAN	V	249;249;115;249;222;190	ENSP00000313995:G249V;ENSP00000244670:G115V;ENSP00000331562:G190V	ENSP00000244670:G115V	G	+	2	0	KLHDC3	43094361	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.492000	0.97957	2.599000	0.87857	0.462000	0.41574	GGG		0.512	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040570.1	NM_057161		9	336	9	336	---	---	---	---
DST	667	broad.mit.edu	37	6	56483809	56483809	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:56483809G>T	ENST00000370765.6	-	23	5130	c.5023C>A	c.(5023-5025)Cag>Aag	p.Q1675K	DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	3745					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTGGTATTCTGGATGATAATG	0.383																																						ENST00000370765.6																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(5023-5025)Cag>Aag		dystonin							117.0	125.0	122.0					6																	56483809		2203	4300	6503	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56483809G>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.5023C>A	6.37:g.56483809G>T	ENSP00000359801:p.Gln1675Lys		Somatic				DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	p.Q1675K	NM_001723.5	NP_001714.1	WXS	Illumina GAIIx	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		23	5130	-	Lung NSC(77;0.103)		1035					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000370765.6	37	c.5023C>A	CCDS4959.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168743	0.57584	.	.	ENSG00000151914	ENST00000370765	T	0.28069	1.63	5.35	3.55	0.40652	.	.	.	.	.	T	0.07324	0.0185	.	.	.	0.09310	N	0.999999	P	0.41265	0.744	B	0.39027	0.288	T	0.12426	-1.0548	7	0.15499	T	0.54	.	7.3111	0.26475	0.1459:0.0:0.7159:0.1382	.	1675	Q03001-3	.	K	1675	ENSP00000359801:Q1675K	ENSP00000359801:Q1675K	Q	-	1	0	DST	56591768	0.993000	0.37304	1.000000	0.80357	0.980000	0.70556	0.711000	0.25764	1.394000	0.46624	0.650000	0.86243	CAG		0.383	DST-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041027.2	NM_001723		6	154	6	154	---	---	---	---
BAI3	577	broad.mit.edu	37	6	69703722	69703722	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:69703722C>A	ENST00000370598.1	+	11	2618	c.1797C>A	c.(1795-1797)acC>acA	p.T599T		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	599					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCCAGGTGACCAAGACACTGT	0.438																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(1795-1797)acC>acA		brain-specific angiogenesis inhibitor 3							206.0	215.0	212.0					6																	69703722		2203	4300	6503	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69703722C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1797C>A	6.37:g.69703722C>A			Somatic					p.T599T	NM_001704.2	NP_001695	WXS	Illumina GAIIx	Phase_I	O60242	BAI3_HUMAN			11	2618	+		all_lung(197;0.212)	599					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.1797C>A	CCDS4968.1																																																																																				0.438	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			7	281	7	281	---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90383966	90383966	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:90383966G>T	ENST00000369393.3	-	79	13219	c.13104C>A	c.(13102-13104)ccC>ccA	p.P4368P	MDN1_ENST00000468568.1_5'Flank|RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Silent_p.P4368P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4368					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCAACCAGAGGGCAGCTGAC	0.473																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(13102-13104)ccC>ccA		MDN1, midasin homolog (yeast)							111.0	100.0	103.0					6																	90383966		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90383966G>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13104C>A	6.37:g.90383966G>T			Somatic				MDN1_ENST00000428876.1_Silent_p.P4368P|RP1-122O8.7_ENST00000438877.1_RNA	p.P4368P			WXS	Illumina GAIIx	Phase_I	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	79	13219	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4368					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.13104C>A	CCDS5024.1																																																																																				0.473	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			5	60	5	60	---	---	---	---
EPHA7	2045	broad.mit.edu	37	6	93982058	93982058	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:93982058G>T	ENST00000369303.4	-	6	1591	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	469	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGACTCCATTGGGATGCTCTG	0.458																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1405-1407)ccC>ccA		EPH receptor A7							289.0	266.0	274.0					6																	93982058		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93982058G>T	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1407C>A	6.37:g.93982058G>T			Somatic					p.P469P	NM_004440.3	NP_004431.1	WXS	Illumina GAIIx	Phase_I	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	6	1591	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	469			Fibronectin type-III 2.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.1407C>A	CCDS5031.1																																																																																				0.458	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			6	184	6	184	---	---	---	---
FAXC	84553	broad.mit.edu	37	6	99729207	99729207	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:99729207G>T	ENST00000389677.5	-	6	1345	c.1063C>A	c.(1063-1065)Cac>Aac	p.H355N	FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	355						integral component of membrane (GO:0016021)											AGCGGGGTGTGGGTTTTGCTG	0.473																																						ENST00000389677.5																			0											c.(1063-1065)Cac>Aac		failed axon connections homolog (Drosophila)							107.0	103.0	104.0					6																	99729207		2203	4300	6503	SO:0001583	missense	84553							g.chr6:99729207G>T	BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.1063C>A	6.37:g.99729207G>T	ENSP00000374328:p.His355Asn		Somatic				FAXC_ENST00000461803.1_5'UTR|FAXC_ENST00000538471.1_Missense_Mutation_p.H75N	p.H355N	NM_032511.2	NP_115900.1	WXS	Illumina GAIIx	Phase_I	Q5TGI0	CF168_HUMAN			6	1345	-			355					B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	ENST00000389677.5	37	c.1063C>A	CCDS34500.1	.	.	.	.	.	.	.	.	.	.	G	0.964	-0.702293	0.03255	.	.	ENSG00000146267	ENST00000389677;ENST00000538471	.	.	.	5.29	4.36	0.52297	.	0.423911	0.26268	N	0.025350	T	0.22475	0.0542	L	0.36672	1.1	0.45183	D	0.998199	B	0.25169	0.119	B	0.21917	0.037	T	0.07927	-1.0747	9	0.02654	T	1	-29.4086	10.661	0.45702	0.0735:0.133:0.7935:0.0	.	355	Q5TGI0	CF168_HUMAN	N	355;75	.	ENSP00000374328:H355N	H	-	1	0	C6orf168	99835928	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.462000	0.45049	2.459000	0.83118	0.655000	0.94253	CAC		0.473	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041589.4	NM_032511		5	74	5	74	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117250126	117250126	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:117250126C>A	ENST00000332958.2	+	18	2619	c.2603C>A	c.(2602-2604)cCa>cAa	p.P868Q		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	868					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGTCGAACTCCAGTCCTAGGT	0.393																																						ENST00000332958.2																			0				cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						c.(2602-2604)cCa>cAa		regulatory factor X, 6							102.0	92.0	96.0					6																	117250126		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117250126C>A	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2603C>A	6.37:g.117250126C>A	ENSP00000332208:p.Pro868Gln		Somatic					p.P868Q	NM_173560.3	NP_775831.2	WXS	Illumina GAIIx	Phase_I	Q8HWS3	RFX6_HUMAN			18	2619	+			868					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.2603C>A	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618612	0.46736	.	.	ENSG00000185002	ENST00000332958	T	0.54675	0.56	5.63	5.63	0.86233	.	0.402842	0.27406	N	0.019516	T	0.20292	0.0488	N	0.19112	0.55	0.26906	N	0.966995	P	0.34780	0.468	B	0.29267	0.1	T	0.07195	-1.0785	10	0.27785	T	0.31	-10.7128	15.3004	0.73945	0.1407:0.8593:0.0:0.0	.	868	Q8HWS3	RFX6_HUMAN	Q	868	ENSP00000332208:P868Q	ENSP00000332208:P868Q	P	+	2	0	RFX6	117356819	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.055000	0.57441	2.814000	0.96858	0.655000	0.94253	CCA		0.393	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		5	82	5	82	---	---	---	---
SLC35F1	222553	broad.mit.edu	37	6	118588180	118588180	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:118588180C>A	ENST00000360388.4	+	4	701	c.500C>A	c.(499-501)cCa>cAa	p.P167Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	167					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGTGATCCCAGTCGTGATT	0.483																																						ENST00000360388.4																			0				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(499-501)cCa>cAa		solute carrier family 35, member F1							377.0	346.0	357.0					6																	118588180		2203	4300	6503	SO:0001583	missense	222553				transport	integral to membrane		g.chr6:118588180C>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.500C>A	6.37:g.118588180C>A	ENSP00000353557:p.Pro167Gln		Somatic					p.P167Q	NM_001029858.3	NP_001025029.2	WXS	Illumina GAIIx	Phase_I	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	4	701	+			167					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Missense_Mutation	SNP	ENST00000360388.4	37	c.500C>A	CCDS34524.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864769	0.91511	.	.	ENSG00000196376	ENST00000360388	T	0.69685	-0.42	4.99	4.99	0.66335	.	0.057752	0.64402	D	0.000001	T	0.82001	0.4942	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83385	0.0014	10	0.59425	D	0.04	-11.869	18.8278	0.92125	0.0:1.0:0.0:0.0	.	167	Q5T1Q4	S35F1_HUMAN	Q	167	ENSP00000353557:P167Q	ENSP00000353557:P167Q	P	+	2	0	SLC35F1	118694873	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.278000	0.78587	2.756000	0.94617	0.561000	0.74099	CCA		0.483	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		9	354	9	354	---	---	---	---
FAM184A	79632	broad.mit.edu	37	6	119345262	119345262	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:119345262C>A	ENST00000338891.7	-	2	1319	c.876G>T	c.(874-876)caG>caT	p.Q292H	FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	292						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTCTTGTCCCTGAAATTCTT	0.383																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(874-876)caG>caT		family with sequence similarity 184, member A							109.0	102.0	104.0					6																	119345262		1819	4076	5895	SO:0001583	missense	79632							g.chr6:119345262C>A	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.876G>T	6.37:g.119345262C>A	ENSP00000342604:p.Gln292His		Somatic				RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.Q292H|FAM184A_ENST00000368475.4_Missense_Mutation_p.Q172H|FAM184A_ENST00000522284.1_Missense_Mutation_p.Q172H|FAM184A_ENST00000352896.5_Missense_Mutation_p.Q172H	p.Q292H	NM_024581.4	NP_078857.5	WXS	Illumina GAIIx	Phase_I	Q8NB25	F184A_HUMAN			2	1319	-			292					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.876G>T	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540727	0.27563	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.04	1.85	0.25348	.	0.000000	0.85682	D	0.000000	T	0.43500	0.1250	M	0.73962	2.25	0.50813	D	0.999898	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.83275	0.994;0.955;0.996	T	0.41963	-0.9479	10	0.56958	D	0.05	-14.0733	8.267	0.31819	0.0:0.4837:0.0:0.5163	.	292;172;292	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	H	292;172;172;292;172	ENSP00000342604:Q292H;ENSP00000326608:Q172H;ENSP00000357460:Q172H;ENSP00000430442:Q292H;ENSP00000429826:Q172H	ENSP00000342604:Q292H	Q	-	3	2	FAM184A	119386961	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	0.749000	0.26320	0.456000	0.26937	0.460000	0.39030	CAG		0.383	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		6	150	6	150	---	---	---	---
CLVS2	134829	broad.mit.edu	37	6	123319157	123319157	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:123319157C>A	ENST00000275162.5	+	2	1570	c.235C>A	c.(235-237)Cgg>Agg	p.R79R	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	79					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTGAGTACCGGCAGCAGAA	0.557																																						ENST00000275162.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						c.(235-237)Cgg>Agg		clavesin 2							130.0	117.0	121.0					6																	123319157		2203	4300	6503	SO:0001819	synonymous_variant	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319157C>A	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.235C>A	6.37:g.123319157C>A			Somatic				CLVS2_ENST00000368438.1_Intron	p.R79R	NM_001010852.3	NP_001010852.2	WXS	Illumina GAIIx	Phase_I	Q5SYC1	CLVS2_HUMAN			2	1570	+								B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	ENST00000275162.5	37	c.235C>A	CCDS34525.1																																																																																				0.557	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		5	154	5	154	---	---	---	---
ENPP1	5167	broad.mit.edu	37	6	132182820	132182820	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:132182820C>A	ENST00000360971.2	+	9	1021	c.1001C>A	c.(1000-1002)cCa>cAa	p.P334Q		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	334	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GGAATTTTCCCAGACATCTAT	0.353																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1000-1002)cCa>cAa		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						72.0	73.0	73.0					6																	132182820		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132182820C>A	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1001C>A	6.37:g.132182820C>A	ENSP00000354238:p.Pro334Gln		Somatic					p.P334Q	NM_006208.2	NP_006199.2	WXS	Illumina GAIIx	Phase_I	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	9	1021	+	Breast(56;0.0505)		334			Phosphodiesterase.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1001C>A	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754772	0.89843	.	.	ENSG00000197594	ENST00000360971	D	0.88124	-2.34	5.77	5.77	0.91146	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95726	0.8610	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96314	0.9231	10	0.87932	D	0	-13.1882	19.9941	0.97377	0.0:1.0:0.0:0.0	.	334	P22413	ENPP1_HUMAN	Q	334	ENSP00000354238:P334Q	ENSP00000354238:P334Q	P	+	2	0	ENPP1	132224513	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	7.051000	0.76627	2.729000	0.93468	0.557000	0.71058	CCA		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			5	96	5	96	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134493334	134493334	+	Silent	SNP	C	C	A	rs139370799	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:134493334C>A	ENST00000237305.7	-	8	871	c.783G>T	c.(781-783)ccG>ccT	p.P261P	SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000367858.5_Silent_p.P356P	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CGCCTACCTCCGGCGTGCCAC	0.483																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1066-1068)ccG>ccT		serum/glucocorticoid regulated kinase 1							246.0	228.0	234.0					6																	134493334		2203	4300	6503	SO:0001819	synonymous_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493334C>A	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.783G>T	6.37:g.134493334C>A			Somatic				SGK1_ENST00000367857.5_Silent_p.P251P|SGK1_ENST00000413996.3_Silent_p.P275P|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000475719.2_Silent_p.P217P|SGK1_ENST00000528577.1_Silent_p.P289P|SGK1_ENST00000237305.7_Silent_p.P261P	p.P356P	NM_001143676.1	NP_001137148.1	WXS	Illumina GAIIx	Phase_I	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1665	-	Colorectal(23;0.221)		261			AGC-kinase C-terminal.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Silent	SNP	ENST00000237305.7	37	c.1068G>T	CCDS5170.1																																																																																				0.483	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			5	206	5	206	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815150	137815150	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:137815150C>A	ENST00000367734.2	-	1	381	c.158G>T	c.(157-159)gGg>gTg	p.G53V		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	53					spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GAGGCTTTCCCCGGGCATCTT	0.617																																						ENST00000367734.2																			0				endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(157-159)gGg>gTg		oligodendrocyte transcription factor 3							80.0	83.0	82.0					6																	137815150		2203	4300	6503	SO:0001583	missense	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815150C>A	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.158G>T	6.37:g.137815150C>A	ENSP00000356708:p.Gly53Val		Somatic					p.G53V	NM_175747.2	NP_786923.1	WXS	Illumina GAIIx	Phase_I	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	381	-	Breast(32;0.165)|Colorectal(23;0.24)		53					Q8N8Q0	Missense_Mutation	SNP	ENST00000367734.2	37	c.158G>T	CCDS5186.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311878	0.23821	.	.	ENSG00000177468	ENST00000367734	D	0.99479	-5.98	5.55	5.55	0.83447	.	0.083064	0.50627	D	0.000107	D	0.95468	0.8528	N	0.14661	0.345	0.58432	D	0.999998	B	0.33694	0.421	B	0.29267	0.1	D	0.95395	0.8485	10	0.46703	T	0.11	-2.4055	10.0579	0.42257	0.0:0.8499:0.0:0.1501	.	53	Q7RTU3	OLIG3_HUMAN	V	53	ENSP00000356708:G53V	ENSP00000356708:G53V	G	-	2	0	OLIG3	137856843	0.928000	0.31464	0.992000	0.48379	0.564000	0.35744	1.676000	0.37565	2.594000	0.87642	0.591000	0.81541	GGG		0.617	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		7	139	7	139	---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158873275	158873275	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:158873275C>A	ENST00000367097.3	+	5	2191	c.834C>A	c.(832-834)ccC>ccA	p.P278P	TULP4_ENST00000367094.2_Silent_p.P278P	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	278					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACTTGTCTCCCACGGTCATCC	0.552																																						ENST00000367097.3																			0				endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(832-834)ccC>ccA		tubby like protein 4							147.0	107.0	121.0					6																	158873275		2203	4300	6503	SO:0001819	synonymous_variant	56995				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:158873275C>A		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.834C>A	6.37:g.158873275C>A			Somatic				TULP4_ENST00000367094.2_Silent_p.P278P	p.P278P	NM_020245.4	NP_064630.2	WXS	Illumina GAIIx	Phase_I	Q9NRJ4	TULP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)	5	2191	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)	278					Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	ENST00000367097.3	37	c.834C>A	CCDS34561.1																																																																																				0.552	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042869.1	NM_020245		5	63	5	63	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165832169	165832169	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:165832169C>A	ENST00000366882.1	-	12	1076	c.922G>T	c.(922-924)Gag>Tag	p.E308*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	308	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCCTTTTCCTCTCCAATATCA	0.418																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(922-924)Gag>Tag		phosphodiesterase 10A	Dipyridamole(DB00975)						124.0	112.0	116.0					6																	165832169		2203	4300	6503	SO:0001587	stop_gained	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165832169C>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.922G>T	6.37:g.165832169C>A	ENSP00000355847:p.Glu308*		Somatic				PDE10A_ENST00000354448.4_Nonsense_Mutation_p.E308*|PDE10A_ENST00000539869.2_Nonsense_Mutation_p.E318*	p.E308*			WXS	Illumina GAIIx	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	12	1076	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	308			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37	c.922G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.628512	0.97718	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	18.6859	0.91563	0.0:1.0:0.0:0.0	.	.	.	.	X	308;336;318;308;307	.	ENSP00000341187:E318X	E	-	1	0	PDE10A	165752159	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	7.329000	0.79170	2.416000	0.81992	0.655000	0.94253	GAG		0.418	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			5	70	5	70	---	---	---	---
C6orf120	387263	broad.mit.edu	37	6	170102663	170102663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr6:170102663C>A	ENST00000332290.2	+	1	407	c.108C>A	c.(106-108)ccC>ccA	p.P36P	C6orf120_ENST00000439249.1_Silent_p.P55P|WDR27_ENST00000423258.1_5'Flank|WDR27_ENST00000448612.1_5'Flank|WDR27_ENST00000420344.2_5'Flank|WDR27_ENST00000333572.6_5'Flank	NM_001029863.1	NP_001025034.1	Q7Z4R8	CF120_HUMAN	chromosome 6 open reading frame 120	36					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		AGGAGGTCCCCGAGGAGTGGG	0.692																																						ENST00000332290.2																			0				endometrium(1)|lung(2)	3						c.(106-108)ccC>ccA		chromosome 6 open reading frame 120							27.0	28.0	28.0					6																	170102663		2203	4298	6501	SO:0001819	synonymous_variant	387263					extracellular region		g.chr6:170102663C>A	AF055030	CCDS34575.1	6q27	2012-06-21			ENSG00000185127	ENSG00000185127			21247	protein-coding gene	gene with protein product						8619474, 9110174, 22340178	Standard	NM_001029863		Approved	bA160E12.4	uc003qxb.3	Q7Z4R8	OTTHUMG00000016057	ENST00000332290.2:c.108C>A	6.37:g.170102663C>A			Somatic				C6orf120_ENST00000439249.1_Silent_p.P55P	p.P36P	NM_001029863.1	NP_001025034.1	WXS	Illumina GAIIx	Phase_I	Q7Z4R8	CF120_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)	1	407	+		Breast(66;0.000338)	36					B4DHE9|E1P5C9	Silent	SNP	ENST00000332290.2	37	c.108C>A	CCDS34575.1																																																																																				0.692	C6orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043214.1	NM_001029863		4	34	4	34	---	---	---	---
SNX8	29886	broad.mit.edu	37	7	2289565	2289565	+	IGR	SNP	G	G	T	rs374729233		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:2289565G>T	ENST00000222990.3	-	0	4727				NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000397049.1_Missense_Mutation_p.G99C|NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C	NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8						early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)	early endosome membrane (GO:0031901)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		TGAGTTCGTGGGCGAGCCTGA	0.657																																						ENST00000397049.1																			0				large_intestine(3)|lung(8)|urinary_tract(1)	12						c.(295-297)Ggc>Tgc	Modulation of nucleotide pools	nudix (nucleoside diphosphate linked moiety X)-type motif 1							267.0	199.0	222.0					7																	2289565		2203	4300	6503	SO:0001628	intergenic_variant	4521				DNA protection|DNA repair|response to oxidative stress	cytoplasm	8-oxo-7,8-dihydrodeoxyguanosine triphosphate pyrophosphatase activity|8-oxo-7,8-dihydroguanosine triphosphate pyrophosphatase activity|GTPase activity|metal ion binding|protein binding	g.chr7:2289565G>T	AF121858	CCDS5331.1	7p22.3	2010-08-05			ENSG00000106266	ENSG00000106266		"""Sorting nexins"""	14972	protein-coding gene	gene with protein product		614905					Standard	NM_013321		Approved	Mvp1	uc003slw.3	Q9Y5X2	OTTHUMG00000151512		7.37:g.2289565G>T			Somatic				NUDT1_ENST00000343985.4_Missense_Mutation_p.G99C|NUDT1_ENST00000397048.1_Missense_Mutation_p.G99C|NUDT1_ENST00000356714.1_Missense_Mutation_p.G76C|NUDT1_ENST00000397046.1_Missense_Mutation_p.G76C|NUDT1_ENST00000487426.1_3'UTR|NUDT1_ENST00000339737.2_Missense_Mutation_p.G76C	p.G99C	NM_198948.1|NM_198949.1	NP_945186.1|NP_945187.1	WXS	Illumina GAIIx	Phase_I	P36639	8ODP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.8e-14)|BRCA - Breast invasive adenocarcinoma(126;0.15)	4	397	+		Ovarian(82;0.0253)|Melanoma(862;0.155)	117			Nudix hydrolase.		A4D207|Q96I67	Missense_Mutation	SNP	ENST00000222990.3	37	c.295G>T	CCDS5331.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.416004	0.62511	.	.	ENSG00000106268	ENST00000356714;ENST00000397049;ENST00000397046;ENST00000397048;ENST00000343985;ENST00000339737	T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06	5.41	5.41	0.78517	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.04320	-1.0960	10	0.72032	D	0.01	-15.1061	19.1863	0.93645	0.0:0.0:1.0:0.0	.	117	P36639	8ODP_HUMAN	C	76;99;76;99;99;76	ENSP00000349148:G76C;ENSP00000380242:G99C;ENSP00000380239:G76C;ENSP00000380241:G99C;ENSP00000339503:G99C;ENSP00000343439:G76C	ENSP00000343439:G76C	G	+	1	0	NUDT1	2256091	1.000000	0.71417	0.911000	0.35937	0.088000	0.18126	8.570000	0.90748	2.521000	0.84997	0.561000	0.74099	GGC		0.657	SNX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322949.2			6	119	6	119	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:4780549C>A	ENST00000328914.4	+	2	641	c.641C>A	c.(640-642)cCg>cAg	p.P214Q	FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647																																						ENST00000328914.4																			4	Substitution - Missense(4)	p.P40L(1)|p.P214L(1)|p.P40Q(1)|p.P214Q(1)	large_intestine(2)|lung(2)	breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(640-642)cCg>cAg		forkhead box K1							105.0	113.0	110.0					7																	4780549		2203	4300	6503	SO:0001583	missense	221937				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion 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.chr7:4780549C>A	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.641C>A	7.37:g.4780549C>A	ENSP00000328720:p.Pro214Gln		Somatic				FOXK1_ENST00000446823.1_Missense_Mutation_p.P51Q	p.P214Q	NM_001037165.1	NP_001032242.1	WXS	Illumina GAIIx	Phase_I	P85037	FOXK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)	2	641	+		Ovarian(82;0.0175)	214						Missense_Mutation	SNP	ENST00000328914.4	37	c.641C>A	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240773	0.79912	.	.	ENSG00000164916	ENST00000446823;ENST00000328914;ENST00000545598	D;D	0.96136	-3.63;-3.92	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.97284	0.9112	M	0.68317	2.08	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.845	D;D;P	0.91635	0.999;0.995;0.513	D	0.97390	0.9988	10	0.51188	T	0.08	.	17.8708	0.88810	0.0:1.0:0.0:0.0	.	214;97;51	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	Q	51;214;97	ENSP00000394442:P51Q;ENSP00000328720:P214Q	ENSP00000328720:P214Q	P	+	2	0	FOXK1	4747075	1.000000	0.71417	0.679000	0.29978	0.718000	0.41266	7.684000	0.84104	2.449000	0.82847	0.563000	0.77884	CCG		0.647	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			5	198	5	198	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11675890	11675890	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11675890G>T	ENST00000423059.4	-	2	1140	c.889C>A	c.(889-891)Cgc>Agc	p.R297S	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	297					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R297C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAAGCTCGCGGGCTTCTGGA	0.463										HNSCC(18;0.044)																												ENST00000423059.4																			1	Substitution - Missense(1)	p.R297C(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(889-891)Cgc>Agc		thrombospondin, type I, domain containing 7A							140.0	133.0	135.0					7																	11675890		1866	4111	5977	SO:0001583	missense	221981					integral to membrane		g.chr7:11675890G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.889C>A	7.37:g.11675890G>T	ENSP00000406482:p.Arg297Ser	HNSCC(18;0.044)	Somatic					p.R297S	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1140	-									Missense_Mutation	SNP	ENST00000423059.4	37	c.889C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264967	0.40095	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59083	0.29	5.62	4.72	0.59763	.	0.094270	0.64402	D	0.000001	T	0.48447	0.1500	L	0.47716	1.5	0.49687	D	0.999811	P	0.46621	0.881	B	0.40825	0.341	T	0.49072	-0.8977	10	0.07030	T	0.85	.	16.0879	0.81070	0.0:0.0:0.865:0.135	.	297	Q9UPZ6	THS7A_HUMAN	S	297	ENSP00000406482:R297S	ENSP00000262042:R297S	R	-	1	0	THSD7A	11642415	1.000000	0.71417	0.990000	0.47175	0.425000	0.31504	6.094000	0.71431	1.462000	0.47948	0.585000	0.79938	CGC		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	212	6	212	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11676569	11676569	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:11676569C>A	ENST00000423059.4	-	2	461	c.210G>T	c.(208-210)atG>atT	p.M70I	THSD7A_ENST00000480061.1_5'UTR	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	70	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M70I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATTCATCTCCCATACATCGGC	0.463										HNSCC(18;0.044)																												ENST00000423059.4																			1	Substitution - Missense(1)	p.M70I(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(208-210)atG>atT		thrombospondin, type I, domain containing 7A							75.0	76.0	76.0					7																	11676569		2007	4170	6177	SO:0001583	missense	221981					integral to membrane		g.chr7:11676569C>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.210G>T	7.37:g.11676569C>A	ENSP00000406482:p.Met70Ile	HNSCC(18;0.044)	Somatic				THSD7A_ENST00000480061.1_5'UTR	p.M70I	NM_015204.2	NP_056019.1	WXS	Illumina GAIIx	Phase_I	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	461	-						TSP type-1 1.			Missense_Mutation	SNP	ENST00000423059.4	37	c.210G>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	14.60	2.584560	0.46110	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.58210	0.35	6.02	6.02	0.97574	.	0.000000	0.85682	U	0.000000	T	0.46521	0.1397	L	0.38175	1.15	0.80722	D	1	B	0.24823	0.112	B	0.24006	0.05	T	0.30736	-0.9968	10	0.17832	T	0.49	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	70	Q9UPZ6	THS7A_HUMAN	I	70	ENSP00000406482:M70I	ENSP00000262042:M70I	M	-	3	0	THSD7A	11643094	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	6.089000	0.71384	2.850000	0.98022	0.650000	0.86243	ATG		0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		6	124	6	124	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21932083	21932083	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:21932083C>A	ENST00000409508.3	+	77	12579	c.12548C>A	c.(12547-12549)cCa>cAa	p.P4183Q	DNAH11_ENST00000328843.6_Missense_Mutation_p.P4190Q	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4190					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGCTGCCCCACCCTACCTA	0.473									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(12568-12570)cCa>cAa		dynein, axonemal, heavy chain 11							203.0	199.0	200.0					7																	21932083		1953	4146	6099	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21932083C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12548C>A	7.37:g.21932083C>A	ENSP00000475939:p.Pro4183Gln		Somatic				DNAH11_ENST00000409508.3_Missense_Mutation_p.P4183Q	p.P4190Q			WXS	Illumina GAIIx	Phase_I	Q96DT5	DYH11_HUMAN			78	12600	+			4190					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12569C>A		.	.	.	.	.	.	.	.	.	.	C	32	5.144967	0.94603	.	.	ENSG00000105877	ENST00000328843	T	0.49720	0.77	6.08	6.08	0.98989	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.73102	0.3544	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74399	-0.3678	9	0.87932	D	0	.	20.2738	0.98482	0.0:1.0:0.0:0.0	.	4190	Q96DT5	DYH11_HUMAN	Q	4190	ENSP00000330671:P4190Q	ENSP00000330671:P4190Q	P	+	2	0	DNAH11	21898608	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	5.923000	0.70045	2.894000	0.99253	0.655000	0.94253	CCA		0.473	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		8	287	8	287	---	---	---	---
HOXA10	3206	broad.mit.edu	37	7	27211549	27211549	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:27211549C>A	ENST00000283921.4	-	2	1201	c.1202G>T	c.(1201-1203)cGg>cTg	p.R401L	HOXA9_ENST00000497089.1_5'Flank|MIR196B_ENST00000384852.1_RNA|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'UTR|HOXA-AS4_ENST00000523790.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|HOXA-AS4_ENST00000519694.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	401					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|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)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TGTGAGCTCCCGGATCCGGTT	0.512																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(1201-1203)cGg>cTg		homeobox A10							81.0	91.0	88.0					7																	27211549		2203	4300	6503	SO:0001583	missense	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27211549C>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.1202G>T	7.37:g.27211549C>A	ENSP00000283921:p.Arg401Leu		Somatic				HOXA10_ENST00000396344.4_Missense_Mutation_p.R85L|RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron	p.R401L	NM_018951.3	NP_061824.3	WXS	Illumina GAIIx	Phase_I	P31260	HXA10_HUMAN			2	1201	-			401					O43370|O43605|Q15949|Q504T1	Missense_Mutation	SNP	ENST00000283921.4	37	c.1202G>T	CCDS5410.2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419729	0.83559	.	.	ENSG00000253293	ENST00000283921;ENST00000396344	D;D	0.94862	-2.96;-3.54	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000008	D	0.96513	0.8862	L	0.52364	1.645	0.80722	D	1	D;B	0.89917	1.0;0.053	D;B	0.91635	0.999;0.07	D	0.96768	0.9566	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	401;85	P31260;Q504T1	HXA10_HUMAN;.	L	401;85	ENSP00000283921:R401L;ENSP00000379633:R85L	ENSP00000283921:R401L	R	-	2	0	HOXA10	27178074	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.688000	0.91661	0.563000	0.77884	CGG		0.512	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			4	101	4	101	---	---	---	---
GPR141	353345	broad.mit.edu	37	7	37780690	37780690	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:37780690G>T	ENST00000447769.1	+	4	984	c.695G>T	c.(694-696)gGg>gTg	p.G232V	GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTTTTTATAGGGGTCATCCTT	0.418																																						ENST00000447769.1																			0				NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(694-696)gGg>gTg		G protein-coupled receptor 141							157.0	158.0	158.0					7																	37780690		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780690G>T	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.695G>T	7.37:g.37780690G>T	ENSP00000390410:p.Gly232Val		Somatic				GPR141_ENST00000334425.1_Missense_Mutation_p.G232V|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron	p.G232V			WXS	Illumina GAIIx	Phase_I	Q7Z602	GP141_HUMAN			4	984	+			232					A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.695G>T	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	G	8.909	0.958144	0.18507	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.34859	1.34;1.34	5.2	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.435899	0.22772	N	0.055824	T	0.19208	0.0461	N	0.20685	0.6	0.09310	N	0.999999	B	0.09022	0.002	B	0.12156	0.007	T	0.25916	-1.0118	10	0.07644	T	0.81	-3.0812	8.7487	0.34602	0.0:0.1358:0.4585:0.4057	.	232	Q7Z602	GP141_HUMAN	V	232	ENSP00000390410:G232V;ENSP00000334540:G232V	ENSP00000334540:G232V	G	+	2	0	GPR141	37747215	0.141000	0.22595	0.508000	0.27688	0.988000	0.76386	2.260000	0.43267	0.837000	0.34925	0.655000	0.94253	GGG		0.418	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791		7	190	7	190	---	---	---	---
SUGCT	79783	broad.mit.edu	37	7	40789094	40789094	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:40789094C>A	ENST00000335693.4	+	13	1195	c.1172C>A	c.(1171-1173)cCa>cAa	p.P391Q	C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000309930.5_Missense_Mutation_p.P417Q	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		391					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATTTCCGTCCCAGGTCTGAAA	0.388																																						ENST00000309930.5																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						c.(1249-1251)cCa>cAa		chromosome 7 open reading frame 10							196.0	183.0	187.0					7																	40789094		1830	4085	5915	SO:0001583	missense	79783						transferase activity	g.chr7:40789094C>A																												ENST00000335693.4:c.1172C>A	7.37:g.40789094C>A	ENSP00000338475:p.Pro391Gln		Somatic				C7orf10_ENST00000401647.2_Missense_Mutation_p.P343Q|C7orf10_ENST00000335693.4_Missense_Mutation_p.P391Q	p.P417Q	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	WXS	Illumina GAIIx	Phase_I	Q9HAC7	CG010_HUMAN			14	1274	+			391					A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	c.1250C>A	CCDS55105.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558902	0.65538	.	.	ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693	D;T;T	0.86865	-2.18;-1.04;-1.04	6.07	6.07	0.98685	CoA-transferase family III domain (1);	0.000000	0.85682	D	0.000000	D	0.92093	0.7494	L	0.54965	1.715	0.80722	D	1	D;D;D	0.69078	0.989;0.994;0.997	P;P;D	0.66716	0.854;0.885;0.946	D	0.91989	0.5601	10	0.87932	D	0	-2.4406	19.6475	0.95784	0.0:1.0:0.0:0.0	.	343;391;380	Q4KMW8;Q9HAC7;Q9HAC7-2	.;CG010_HUMAN;.	Q	417;343;391	ENSP00000312054:P417Q;ENSP00000385222:P343Q;ENSP00000338475:P391Q	ENSP00000312054:P417Q	P	+	2	0	C7orf10	40755619	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	4.897000	0.63231	2.885000	0.99019	0.655000	0.94253	CCA		0.388	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			8	153	8	153	---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44612250	44612250	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:44612250G>T	ENST00000258772.5	-	4	583	c.477C>A	c.(475-477)tcC>tcA	p.S159S	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Silent_p.S159S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	159	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						AAAGCTCCAGGGAGTCACGAA	0.512																																						ENST00000258772.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						c.(475-477)tcC>tcA		DEAD (Asp-Glu-Ala-Asp) box helicase 56							146.0	143.0	144.0					7																	44612250		2203	4300	6503	SO:0001819	synonymous_variant	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44612250G>T	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.477C>A	7.37:g.44612250G>T			Somatic				DDX56_ENST00000431640.1_Silent_p.S159S|DDX56_ENST00000485367.1_5'UTR	p.S159S	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	WXS	Illumina GAIIx	Phase_I	Q9NY93	DDX56_HUMAN			4	583	-			159			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Silent	SNP	ENST00000258772.5	37	c.477C>A	CCDS5492.1																																																																																				0.512	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082		7	173	7	173	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73474269	73474269	+	Missense_Mutation	SNP	G	G	T	rs200557183		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:73474269G>T	ENST00000252034.7	+	23	1867	c.1468G>T	c.(1468-1470)Ggt>Tgt	p.G490C	ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C|ELN_ENST00000320399.6_Missense_Mutation_p.G490C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TCCTGGTGTCGGTGTGGCTCC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(1468-1470)Ggt>Tgt		elastin	Rofecoxib(DB00533)						214.0	201.0	206.0					7																	73474269		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474269G>T		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1468G>T	7.37:g.73474269G>T	ENSP00000252034:p.Gly490Cys		Somatic				ELN_ENST00000320399.6_Missense_Mutation_p.G490C|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.G490C|ELN_ENST00000380553.4_Missense_Mutation_p.G354C|ELN_ENST00000380562.4_Missense_Mutation_p.G496C|ELN_ENST00000357036.5_Missense_Mutation_p.G495C|ELN_ENST00000414324.1_Missense_Mutation_p.G466C|ELN_ENST00000380576.5_Missense_Mutation_p.G471C|ELN_ENST00000358929.4_Missense_Mutation_p.G525C|ELN_ENST00000429192.1_Missense_Mutation_p.G476C|ELN_ENST00000380584.4_Missense_Mutation_p.G457C|ELN_ENST00000458204.1_Missense_Mutation_p.G480C|ELN_ENST00000380575.4_Missense_Mutation_p.G461C|ELN_ENST00000320492.7_Missense_Mutation_p.G409C	p.G490C	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	WXS	Illumina GAIIx	Phase_I	P15502	ELN_HUMAN			23	1867	+		Lung NSC(55;0.159)	519			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1468G>T	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018700	0.35606	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.38240	1.29;1.24;1.19;1.25;1.27;1.22;1.25;1.27;1.23;1.22;1.3;1.15;1.29;1.22	1.83	1.83	0.25207	.	.	.	.	.	T	0.54415	0.1857	.	.	.	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995;0.995	T	0.54735	-0.8249	8	0.48119	T	0.1	.	9.3072	0.37883	0.0:0.0:1.0:0.0	.	490;409;466;480;496;461;476;495;471;354;401;457;490	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	C	490;490;525;409;466;496;461;457;480;495;476;354;471;490	ENSP00000389857:G490C;ENSP00000252034:G490C;ENSP00000351807:G525C;ENSP00000315607:G409C;ENSP00000392575:G466C;ENSP00000369936:G496C;ENSP00000369949:G461C;ENSP00000369958:G457C;ENSP00000403162:G480C;ENSP00000349540:G495C;ENSP00000391129:G476C;ENSP00000369926:G354C;ENSP00000369950:G471C;ENSP00000313565:G490C	ENSP00000252034:G490C	G	+	1	0	ELN	73112205	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	2.592000	0.46171	1.041000	0.40125	0.555000	0.69702	GGT		0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		8	283	8	283	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74105415	74105415	+	Missense_Mutation	SNP	G	G	T	rs146598910	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:74105415G>T	ENST00000324896.4	+	3	599	c.210G>T	c.(208-210)aaG>aaT	p.K70N	AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	70					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ATACCAGAAAGGATTTTCAAA	0.348																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(208-210)aaG>aaT		general transcription factor IIi							86.0	86.0	86.0					7																	74105415		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74105415G>T	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.210G>T	7.37:g.74105415G>T	ENSP00000322542:p.Lys70Asn		Somatic				GTF2I_ENST00000416070.1_Missense_Mutation_p.K70N|GTF2I_ENST00000353920.4_Missense_Mutation_p.K70N|GTF2I_ENST00000346152.4_Missense_Mutation_p.K70N|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.K70N	p.K70N	NM_032999.2	NP_127492.1	WXS	Illumina GAIIx	Phase_I	P78347	GTF2I_HUMAN			3	599	+			70					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.210G>T	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334570	0.24253	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.52983	1.2;1.2;1.21;1.21;0.64	4.54	-0.202	0.13208	.	0.000000	0.64402	D	0.000004	T	0.57315	0.2045	L	0.60455	1.87	0.44976	D	0.997994	D;D;D;D;D;P	0.76494	0.999;0.983;0.99;0.999;0.993;0.565	D;P;D;D;D;B	0.80764	0.986;0.846;0.962;0.994;0.958;0.28	T	0.55566	-0.8121	10	0.72032	D	0.01	-15.6131	7.6207	0.28183	0.6007:0.0:0.3993:0.0	.	70;70;70;70;70;70	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	N	70;65;70;70;70;70;70	ENSP00000322542:K70N;ENSP00000322671:K70N;ENSP00000322599:K70N;ENSP00000387651:K70N;ENSP00000404240:K70N	ENSP00000322542:K70N	K	+	3	2	GTF2I	73743351	1.000000	0.71417	0.997000	0.53966	0.197000	0.23852	0.661000	0.25023	0.046000	0.15833	-0.262000	0.10625	AAG		0.348	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	97	7	97	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75168701	75168701	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:75168701C>A	ENST00000336926.6	-	30	3029	c.3003G>T	c.(3001-3003)ctG>ctT	p.L1001L	HIP1_ENST00000434438.2_Silent_p.L950L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1001	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GAAGCTCTCCCAGTTTTTGAC	0.488			T	PDGFRB	CMML																																	ENST00000336926.6				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)ctG>ctT		huntingtin interacting protein 1							278.0	272.0	274.0					7																	75168701		2203	4300	6503	SO:0001819	synonymous_variant	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75168701C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.3003G>T	7.37:g.75168701C>A			Somatic				HIP1_ENST00000434438.2_Silent_p.L950L	p.L1001L	NM_005338.5	NP_005329.3	WXS	Illumina GAIIx	Phase_I	O00291	HIP1_HUMAN			30	3029	-			1001			I/LWEQ.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	ENST00000336926.6	37	c.3003G>T	CCDS34669.1																																																																																				0.488	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		7	373	7	373	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98569472	98569472	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:98569472C>A	ENST00000359863.4	+	52	7931	c.7722C>A	c.(7720-7722)ccC>ccA	p.P2574P	TRRAP_ENST00000446306.3_Silent_p.P2556P|TRRAP_ENST00000355540.3_Silent_p.P2556P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2574					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.P2574P(1)|p.P2556P(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGCACGCCCAAAACCAAAG	0.463																																						ENST00000359863.4																			2	Substitution - coding silent(2)	p.P2574P(1)|p.P2556P(1)	lung(2)	NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7720-7722)ccC>ccA		transformation/transcription domain-associated protein							193.0	188.0	190.0					7																	98569472		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98569472C>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7722C>A	7.37:g.98569472C>A			Somatic				TRRAP_ENST00000355540.3_Silent_p.P2556P|TRRAP_ENST00000446306.3_Silent_p.P2556P	p.P2574P	NM_001244580.1	NP_001231509.1	WXS	Illumina GAIIx	Phase_I	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		52	7931	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2574					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.7722C>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	9.976	1.226788	0.22542	.	.	ENSG00000196367	ENST00000456197	T	0.44083	0.93	5.95	1.69	0.24217	.	0.000000	0.85682	D	0.000000	T	0.37705	0.1013	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07271	-1.0781	7	0.23302	T	0.38	.	8.4293	0.32748	0.0:0.6704:0.1171:0.2125	.	.	.	.	Q	2296	ENSP00000394645:P2296Q	ENSP00000394645:P2296Q	P	+	2	0	TRRAP	98407408	0.621000	0.27077	1.000000	0.80357	0.959000	0.62525	-0.147000	0.10234	0.855000	0.35359	0.655000	0.94253	CCA		0.463	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	287	9	287	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99706102	99706102	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:99706102C>A	ENST00000344095.4	-	13	1871	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L	TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	449					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAATTCTGCCCGATAGGCGTC	0.612																																						ENST00000344095.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(1345-1347)cGg>cTg		TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa							62.0	71.0	68.0					7																	99706102		2203	4300	6503	SO:0001583	missense	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99706102C>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1346G>T	7.37:g.99706102C>A	ENSP00000344537:p.Arg449Leu		Somatic				AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000453269.2_Missense_Mutation_p.R449L|TAF6_ENST00000452041.1_Missense_Mutation_p.R449L|TAF6_ENST00000418432.2_Missense_Mutation_p.R373L|TAF6_ENST00000472509.1_Missense_Mutation_p.R506L|TAF6_ENST00000437822.2_Missense_Mutation_p.R486L	p.R449L	NM_005641.3	NP_005632.1	WXS	Illumina GAIIx	Phase_I	P49848	TAF6_HUMAN			13	1871	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	ENST00000344095.4	37	c.1346G>T	CCDS5686.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365594	0.61513	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822	T;T;T;T;T	0.45668	0.91;0.89;0.91;0.91;0.89	5.69	4.81	0.61882	.	0.190294	0.45606	D	0.000348	T	0.29491	0.0735	L	0.36672	1.1	0.42114	D	0.991394	P;P;P;P;P	0.46220	0.874;0.677;0.548;0.548;0.548	B;B;B;B;B	0.34489	0.089;0.184;0.089;0.089;0.089	T	0.10428	-1.0630	10	0.45353	T	0.12	-15.8284	12.3336	0.55054	0.0:0.9178:0.0:0.0821	.	486;449;439;449;373	B4DT11;P49848-2;A4D299;P49848;B3KUR4	.;.;.;TAF6_HUMAN;.	L	449;506;449;449;373;486	ENSP00000389575:R449L;ENSP00000419760:R506L;ENSP00000416396:R449L;ENSP00000344537:R449L;ENSP00000399982:R486L	ENSP00000344537:R449L	R	-	2	0	TAF6	99544038	0.928000	0.31464	0.990000	0.47175	0.845000	0.48019	1.534000	0.36051	1.399000	0.46721	0.491000	0.48974	CGG		0.612	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		5	143	5	143	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100281209	100281209	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:100281209C>A	ENST00000275732.5	-	17	3225	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	672					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAATTGGACCCTGAGTCGAAG	0.607																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2014-2016)caG>caT		GRB10 interacting GYF protein 1							162.0	158.0	160.0					7																	100281209		2203	4300	6503	SO:0001583	missense	64599							g.chr7:100281209C>A	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2016G>T	7.37:g.100281209C>A	ENSP00000275732:p.Gln672His		Somatic					p.Q672H	NM_022574.4	NP_072096.2	WXS	Illumina GAIIx	Phase_I	O75420	PERQ1_HUMAN			17	3225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		672					Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	c.2016G>T	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	21.7	4.190223	0.78789	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.85088	-1.94	4.05	4.05	0.47172	.	0.189391	0.35407	N	0.003236	D	0.90256	0.6953	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.90892	0.4762	10	0.59425	D	0.04	-19.4225	13.7737	0.63039	0.0:1.0:0.0:0.0	.	672	O75420	PERQ1_HUMAN	H	391;672	ENSP00000275732:Q672H	ENSP00000275732:Q672H	Q	-	3	2	GIGYF1	100119145	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.168000	0.77570	2.090000	0.63153	0.313000	0.20887	CAG		0.607	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		7	192	7	192	---	---	---	---
CUX1	1523	broad.mit.edu	37	7	101559501	101559501	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:101559501C>A	ENST00000292535.7	+	2	175	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000360264.3_Missense_Mutation_p.P57Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	46					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAACACTCCAGAGGTGAGG	0.537																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(169-171)cCa>cAa		cut-like homeobox 1							107.0	97.0	100.0					7																	101559501		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101559501C>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.137C>A	7.37:g.101559501C>A	ENSP00000292535:p.Pro46Gln		Somatic				CUX1_ENST00000549414.2_Missense_Mutation_p.P46Q|CUX1_ENST00000556210.1_Missense_Mutation_p.P46Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P46Q|CUX1_ENST00000547394.2_Missense_Mutation_p.P57Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Missense_Mutation_p.P46Q|CUX1_ENST00000437600.4_Missense_Mutation_p.P57Q|CUX1_ENST00000292538.4_Missense_Mutation_p.P57Q|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P46Q|CUX1_ENST00000425244.2_Missense_Mutation_p.P57Q	p.P57Q	NM_001202543.1	NP_001189472.1	WXS	Illumina GAIIx	Phase_I	P39880	CUX1_HUMAN			2	190	+			46					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.170C>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083588	0.94050	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.40476	1.43;1.03;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000005	T	0.60637	0.2284	L	0.49778	1.585	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;1.0;0.993;1.0;0.949;1.0	D;D;P;D;B;D	0.91635	0.998;0.997;0.843;0.999;0.269;0.999	T	0.61574	-0.7035	10	0.66056	D	0.02	-14.4775	17.5093	0.87755	0.0:1.0:0.0:0.0	.	46;57;57;57;57;57	P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	CUX1_HUMAN;.;.;.;CASP_HUMAN;.	Q	57;57;57;57;57;57;46;46;46;46;46	ENSP00000292538:P57Q;ENSP00000449371:P57Q;ENSP00000353401:P57Q;ENSP00000409745:P57Q;ENSP00000414091:P57Q;ENSP00000292535:P46Q;ENSP00000446630:P46Q;ENSP00000447373:P46Q;ENSP00000450125:P46Q;ENSP00000451558:P46Q	ENSP00000292535:P46Q	P	+	2	0	CUX1	101346221	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.061000	0.76699	2.570000	0.86706	0.655000	0.94253	CCA		0.537	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		5	77	5	77	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107399369	107399369	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:107399369C>A	ENST00000440859.3	+	6	1689	c.1222C>A	c.(1222-1224)Cca>Aca	p.P408T	CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	408	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGACCTCCCCCACCTCAACA	0.517																																						ENST00000440859.3																			0				endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						c.(1222-1224)Cca>Aca		Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase							195.0	186.0	189.0					7																	107399369		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107399369C>A	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.1222C>A	7.37:g.107399369C>A	ENSP00000401277:p.Pro408Thr		Somatic				CBLL1_ENST00000222597.2_Missense_Mutation_p.P407T	p.P408T	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	WXS	Illumina GAIIx	Phase_I	Q75N03	HAKAI_HUMAN			6	1689	+						Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.1222C>A	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443264	0.43429	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597	T;T	0.35048	1.33;1.33	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.48840	0.1522	L	0.47716	1.5	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.61003	0.882;0.882	T	0.29274	-1.0017	10	0.15952	T	0.53	-1.137	18.2641	0.90046	0.0:1.0:0.0:0.0	.	407;408	B7ZM03;Q75N03	.;HAKAI_HUMAN	T	408;287;407	ENSP00000401277:P408T;ENSP00000222597:P407T	ENSP00000222597:P407T	P	+	1	0	CBLL1	107186605	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.218000	0.77991	2.324000	0.78689	0.289000	0.19496	CCA		0.517	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		7	185	7	185	---	---	---	---
MET	4233	broad.mit.edu	37	7	116339270	116339270	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:116339270C>A	ENST00000318493.6	+	2	319	c.132C>A	c.(130-132)ccC>ccA	p.P44P	MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000397752.3_Silent_p.P44P			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATCAGCTTCCCAACTTCACCG	0.448			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(130-132)ccC>ccA		met proto-oncogene							99.0	98.0	98.0					7																	116339270		1972	4159	6131	SO:0001819	synonymous_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116339270C>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.132C>A	7.37:g.116339270C>A			Somatic				MET_ENST00000436117.2_Silent_p.P44P|MET_ENST00000318493.6_Silent_p.P44P	p.P44P	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	WXS	Illumina GAIIx	Phase_I	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	332	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	44			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.132C>A	CCDS47689.1																																																																																				0.448	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			6	102	6	102	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231036	127231036	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:127231036G>T	ENST00000000233.5	+	5	504	c.350G>T	c.(349-351)cGg>cTg	p.R117L	FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000265825.5_5'Flank|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	117					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						GACGAGCTGCGGGATGCAGTG	0.582																																						ENST00000000233.5																			0				cervix(2)|kidney(1)|lung(10)|ovary(1)	14						c.(349-351)cGg>cTg		ADP-ribosylation factor 5							102.0	100.0	101.0					7																	127231036		2203	4300	6503	SO:0001583	missense	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231036G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.350G>T	7.37:g.127231036G>T	ENSP00000000233:p.Arg117Leu		Somatic				GCC1_ENST00000497650.1_Intron	p.R117L	NM_001662.3	NP_001653.1	WXS	Illumina GAIIx	Phase_I	P84085	ARF5_HUMAN			5	504	+			117					P26437	Missense_Mutation	SNP	ENST00000000233.5	37	c.350G>T	CCDS34745.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453163	0.63290	.	.	ENSG00000004059	ENST00000000233;ENST00000415666	T;T	0.64991	-0.13;-0.13	5.01	5.01	0.66863	Small GTP-binding protein domain (1);	0.133648	0.48286	D	0.000194	T	0.69196	0.3084	M	0.87617	2.895	0.46701	D	0.999162	P	0.39831	0.69	B	0.38985	0.287	T	0.77256	-0.2655	10	0.87932	D	0	-18.4106	15.8254	0.78703	0.0:0.0:1.0:0.0	.	117	P84085	ARF5_HUMAN	L	117;115	ENSP00000000233:R117L;ENSP00000412701:R115L	ENSP00000000233:R117L	R	+	2	0	ARF5	127018272	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.417000	0.59822	2.316000	0.78162	0.561000	0.74099	CGG		0.582	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		6	147	6	147	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128481390	128481390	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:128481390C>A	ENST00000325888.8	+	12	2241	c.1980C>A	c.(1978-1980)ccC>ccA	p.P660P	FLNC_ENST00000346177.6_Silent_p.P660P	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	660					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCCTGCCCGCCCCACCTG	0.632																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(1978-1980)ccC>ccA		filamin C, gamma							160.0	172.0	168.0					7																	128481390		2129	4231	6360	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128481390C>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1980C>A	7.37:g.128481390C>A			Somatic				FLNC_ENST00000346177.6_Silent_p.P660P	p.P660P	NM_001458.4	NP_001449.3	WXS	Illumina GAIIx	Phase_I	Q14315	FLNC_HUMAN			12	2241	+			660					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.1980C>A	CCDS43644.1																																																																																				0.632	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			6	198	6	198	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140550013	140550013	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:140550013C>A	ENST00000288602.6	-	2	199		c.e2-1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase						activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TATTCCACACCTAAAAAATAT	0.313		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	0				NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.e2-1		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						83.0	89.0	87.0					7																	140550013		2203	4298	6501	SO:0001630	splice_region_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140550013C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.139-1G>T	7.37:g.140550013C>A			Somatic						NM_004333.4	NP_004324.2	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			2	199	-	Melanoma(164;0.00956)							A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	SNP	ENST00000288602.6	37		CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100702	0.76983	.	.	ENSG00000157764	ENST00000288602	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9487	0.71054	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRAF	140196482	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.205000	0.77881	2.268000	0.75426	0.555000	0.69702	.		0.313	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	Intron	6	167	6	167	---	---	---	---
OR2A5	393046	broad.mit.edu	37	7	143748279	143748279	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:143748279C>A	ENST00000408906.2	+	1	819	c.785C>A	c.(784-786)cCc>cAc	p.P262H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCCCGC	0.572																																						ENST00000408906.2																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38						c.(784-786)cCc>cAc		olfactory receptor, family 2, subfamily A, member 5							95.0	94.0	94.0					7																	143748279		1998	4184	6182	SO:0001583	missense	393046				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143748279C>A	U86278	CCDS43668.1	7q35	2013-09-20	2003-11-24		ENSG00000221836	ENSG00000221836		"""GPCR / Class A : Olfactory receptors"""	8232	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 5"""	OR2A8, OR2A26		9500546	Standard	NM_012365		Approved	OR7-138, OR7-141	uc011ktw.2	Q96R48	OTTHUMG00000158006	ENST00000408906.2:c.785C>A	7.37:g.143748279C>A	ENSP00000386208:p.Pro262His		Somatic					p.P262H	NM_012365.1	NP_036497.1	WXS	Illumina GAIIx	Phase_I	Q96R48	OR2A5_HUMAN			1	819	+	Melanoma(164;0.0783)		262					B9EGX2|O43885|O43888	Missense_Mutation	SNP	ENST00000408906.2	37	c.785C>A	CCDS43668.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383468	0.61845	.	.	ENSG00000221836	ENST00000408906	T	0.00272	8.36	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31872	U	0.006935	T	0.00967	0.0032	M	0.91872	3.25	0.31639	N	0.648114	D	0.89917	1.0	D	0.91635	0.999	T	0.13926	-1.0491	10	0.87932	D	0	.	16.6572	0.85231	0.0:1.0:0.0:0.0	.	262	Q96R48	OR2A5_HUMAN	H	262	ENSP00000386208:P262H	ENSP00000386208:P262H	P	+	2	0	OR2A5	143379212	0.137000	0.22531	1.000000	0.80357	0.974000	0.67602	1.318000	0.33643	2.797000	0.96272	0.650000	0.86243	CCC		0.572	OR2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349986.1			6	135	6	135	---	---	---	---
GBX1	2636	broad.mit.edu	37	7	150846192	150846192	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:150846192C>A	ENST00000297537.4	-	2	575	c.576G>T	c.(574-576)ctG>ctT	p.L192L	GBX1_ENST00000475831.1_5'Flank	NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	192					adult walking behavior (GO:0007628)|neuron fate commitment (GO:0048663)|proprioception (GO:0019230)|regulation of transcription, DNA-templated (GO:0006355)|sensory neuron axon guidance (GO:0097374)|spinal cord motor neuron differentiation (GO:0021522)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATGCCTCCAGCTTCTCCT	0.582																																						ENST00000297537.4																			0				large_intestine(1)|lung(5)|skin(1)	7						c.(574-576)ctG>ctT		gastrulation brain homeobox 1							201.0	216.0	211.0					7																	150846192		2097	4230	6327	SO:0001819	synonymous_variant	2636					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:150846192C>A	L11239	CCDS43682.1	7q36.1	2012-03-09	2005-12-22		ENSG00000164900	ENSG00000164900		"""Homeoboxes / ANTP class : HOXL subclass"""	4185	protein-coding gene	gene with protein product		603354	"""gastrulation brain homeo box 1"""			7903253	Standard	NM_001098834		Approved		uc011kvg.2	Q14549	OTTHUMG00000158751	ENST00000297537.4:c.576G>T	7.37:g.150846192C>A			Somatic					p.L192L	NM_001098834.1	NP_001092304.1	WXS	Illumina GAIIx	Phase_I	Q14549	GBX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	575	-			192						Silent	SNP	ENST00000297537.4	37	c.576G>T	CCDS43682.1																																																																																				0.582	GBX1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352029.1			7	386	7	386	---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158851252	158851252	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:158851252C>A	ENST00000262178.2	-	5	560	c.375G>T	c.(373-375)ctG>ctT	p.L125L	VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	125					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TGGCCTTCACCAGAATATAAA	0.443																																					Pancreas(154;1876 1931 2329 17914 20079)	ENST00000262178.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22						c.(373-375)ctG>ctT		vasoactive intestinal peptide receptor 2							137.0	127.0	131.0					7																	158851252		2203	4300	6503	SO:0001819	synonymous_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851252C>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.375G>T	7.37:g.158851252C>A			Somatic				VIPR2_ENST00000377633.3_Silent_p.L109L|VIPR2_ENST00000402066.1_Silent_p.L266L	p.L125L	NM_003382.4	NP_003373.2	WXS	Illumina GAIIx	Phase_I	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	560	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	125					Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Silent	SNP	ENST00000262178.2	37	c.375G>T	CCDS5950.1																																																																																				0.443	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382		5	138	5	138	---	---	---	---
DLGAP2	9228	broad.mit.edu	37	8	1497602	1497602	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:1497602C>A	ENST00000421627.2	+	2	877	c.743C>A	c.(742-744)cCc>cAc	p.P248H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	327					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACTGCTACCCCGACGCGCTG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(742-744)cCc>cAc		discs, large (Drosophila) homolog-associated protein 2							58.0	67.0	64.0					8																	1497602		2107	4242	6349	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1497602C>A	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.743C>A	8.37:g.1497602C>A	ENSP00000400258:p.Pro248His		Somatic					p.P248H	NM_004745.3	NP_004736.2	WXS	Illumina GAIIx	Phase_I	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	2	877	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	327					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.743C>A	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.98|15.98	2.993279|2.993279	0.54041|0.54041	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|T	0.18960|0.17213	2.18|2.29	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.148955|0.148955	0.64402|0.64402	D|D	0.000008|0.000008	T|T	0.31606|0.31606	0.0802|0.0802	L|L	0.55017|0.55017	1.72|1.72	0.41722|0.41722	D|D	0.989519|0.989519	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.70935|.	0.971;0.959|.	T|T	0.00942|0.00942	-1.1506|-1.1506	10|8	0.28530|0.27082	T|T	0.3|0.32	-14.2703|-14.2703	18.9482|18.9482	0.92630|0.92630	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	327;327|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	H|T	293;248|265	ENSP00000400258:P248H|ENSP00000430563:P265T	ENSP00000348366:P293H|ENSP00000430563:P265T	P|P	+|+	2|1	0|0	DLGAP2|DLGAP2	1485009|1485009	1.000000|1.000000	0.71417|0.71417	0.904000|0.904000	0.35570|0.35570	0.232000|0.232000	0.25224|0.25224	5.351000|5.351000	0.66022|0.66022	2.463000|2.463000	0.83235|0.83235	0.655000|0.655000	0.94253|0.94253	CCC|CCG		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		7	149	7	149	---	---	---	---
CHRNA2	1135	broad.mit.edu	37	8	27327369	27327369	+	Missense_Mutation	SNP	C	C	A	rs548268816		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:27327369C>A	ENST00000520933.2	-	2	356	c.203G>T	c.(202-204)cGg>cTg	p.R68L	CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000407991.1_Missense_Mutation_p.R68L			Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	68					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transport (GO:0006811)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)	p.R68Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Mecamylamine(DB00657)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Procaine(DB00721)|Rocuronium(DB00728)|Tubocurarine(DB01199)|Vecuronium(DB01339)	GTTGTAGCCCCGGAAGAGGTG	0.632													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16341	0.0		0.0	False		,,,				2504	0.0					ENST00000407991.1																			1	Substitution - Missense(1)	p.R68Q(1)	endometrium(1)	breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(202-204)cGg>cTg		cholinergic receptor, nicotinic, alpha 2 (neuronal)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)						87.0	86.0	86.0					8																	27327369		2203	4300	6503	SO:0001583	missense	1135					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr8:27327369C>A	U62431	CCDS6059.1, CCDS64856.1	8p21	2012-02-11	2006-02-01		ENSG00000120903	ENSG00000120903		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1956	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 2 (neuronal)"""	118502	"""cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)"""			1505988	Standard	NM_000742		Approved		uc010lur.3	Q15822	OTTHUMG00000102083	ENST00000520933.2:c.203G>T	8.37:g.27327369C>A	ENSP00000429616:p.Arg68Leu		Somatic				CHRNA2_ENST00000240132.2_Missense_Mutation_p.R68L|CHRNA2_ENST00000520933.2_Missense_Mutation_p.R68L	p.R68L	NM_000742.3	NP_000733.2	WXS	Illumina GAIIx	Phase_I	Q15822	ACHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	3	811	-		Ovarian(32;2.61e-05)	68					A8KAX3|B4DK19|J3KMY9|Q9HAQ3	Missense_Mutation	SNP	ENST00000520933.2	37	c.203G>T	CCDS6059.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.460144	0.43736	.	.	ENSG00000120903	ENST00000407991;ENST00000520933;ENST00000240132;ENST00000524096;ENST00000518712	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	4.77	3.89	0.44902	Neurotransmitter-gated ion-channel ligand-binding (3);	0.410909	0.25143	N	0.032809	T	0.55194	0.1905	L	0.52364	1.645	0.09310	N	1	B;B	0.21071	0.051;0.051	B;B	0.30179	0.112;0.112	T	0.53982	-0.8361	10	0.66056	D	0.02	.	6.9775	0.24683	0.0:0.7318:0.1747:0.0935	.	68;68	B4DK19;Q15822	.;ACHA2_HUMAN	L	68	ENSP00000385026:R68L;ENSP00000429616:R68L;ENSP00000240132:R68L;ENSP00000430422:R68L;ENSP00000430856:R68L	ENSP00000240132:R68L	R	-	2	0	CHRNA2	27383286	0.000000	0.05858	0.789000	0.31954	0.875000	0.50365	0.006000	0.13152	1.380000	0.46344	0.561000	0.74099	CGG		0.632	CHRNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376125.4			5	107	5	107	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61765453	61765453	+	Missense_Mutation	SNP	C	C	A	rs192260844		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:61765453C>A	ENST00000423902.2	+	31	6648	c.6169C>A	c.(6169-6171)Cgc>Agc	p.R2057S	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2057					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACTCTGTACCGCATTGAGCT	0.562																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(6169-6171)Cgc>Agc		chromodomain helicase DNA binding protein 7							116.0	119.0	118.0					8																	61765453		1944	4154	6098	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765453C>A	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6169C>A	8.37:g.61765453C>A	ENSP00000392028:p.Arg2057Ser		Somatic				CHD7_ENST00000524602.1_Intron	p.R2057S	NM_017780.3	NP_060250.2	WXS	Illumina GAIIx	Phase_I	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	6648	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2057					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6169C>A	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127115	0.94429	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.83163	-1.69	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.91452	0.7302	M	0.78916	2.43	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92212	0.5777	10	0.87932	D	0	-12.4264	19.215	0.93772	0.0:1.0:0.0:0.0	.	2057	Q9P2D1	CHD7_HUMAN	S	2057	ENSP00000392028:R2057S	ENSP00000307304:R2057S	R	+	1	0	CHD7	61928007	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	6.062000	0.71155	2.539000	0.85634	0.655000	0.94253	CGC		0.562	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		5	180	5	180	---	---	---	---
MCMDC2	157777	broad.mit.edu	37	8	67809086	67809086	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:67809086C>A	ENST00000422365.2	+	12	1689	c.1518C>A	c.(1516-1518)ccC>ccA	p.P506P	MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P|MCMDC2_ENST00000313616.5_Silent_p.P506P	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	506					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						AGTCATCTCCCTGCCACCCAT	0.423																																						ENST00000422365.2																			0				endometrium(2)|kidney(2)|lung(5)	9						c.(1516-1518)ccC>ccA		minichromosome maintenance domain containing 2							192.0	185.0	187.0					8																	67809086		2203	4300	6503	SO:0001819	synonymous_variant	157777				DNA replication		ATP binding|DNA binding	g.chr8:67809086C>A	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1518C>A	8.37:g.67809086C>A			Somatic				MCMDC2_ENST00000313616.5_Silent_p.P506P|MCMDC2_ENST00000541540.1_Silent_p.P443P|MCMDC2_ENST00000396592.3_Silent_p.P506P	p.P506P	NM_173518.4	NP_775789.3	WXS	Illumina GAIIx	Phase_I	Q4G0Z9	CH045_HUMAN			12	1689	+			506					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Silent	SNP	ENST00000422365.2	37	c.1518C>A	CCDS6197.2																																																																																				0.423	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1	NM_173518		7	236	7	236	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744881	70744881	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:70744881C>A	ENST00000260126.4	-	2	734	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W|RP11-159H10.3_ENST00000533300.1_RNA|RP11-159H10.3_ENST00000528800.2_RNA|SLCO5A1_ENST00000528658.1_5'UTR|RP11-159H10.3_ENST00000501104.2_RNA	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTCCCGCCCCGGGCTGCAGT	0.617											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260126.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(28-30)Ggg>Tgg		solute carrier organic anion transporter family, member 5A1																																				SO:0001583	missense	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70744881C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.28G>T	8.37:g.70744881C>A	ENSP00000260126:p.Gly10Trp		Somatic	OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1124	SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G10W|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G10W	p.G10W	NM_030958.2	NP_112220.2	WXS	Illumina GAIIx	Phase_I	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		2	734	-	Breast(64;0.0654)							A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Missense_Mutation	SNP	ENST00000260126.4	37	c.28G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	9.019	0.984504	0.18889	.	.	ENSG00000137571	ENST00000260126;ENST00000524945;ENST00000530307	T;T;T	0.40225	1.16;1.53;1.04	4.78	2.96	0.34315	.	1.908090	0.02825	N	0.125969	T	0.35393	0.0930	N	0.08118	0	0.09310	N	1	P;P;P;D	0.55605	0.953;0.953;0.953;0.972	B;B;B;P	0.47470	0.346;0.337;0.337;0.548	T	0.47598	-0.9105	10	0.66056	D	0.02	.	11.3347	0.49496	0.0:0.3738:0.6262:0.0	.	10;10;10;10	B4DR09;E9PKK5;Q9H2Y9;G3V1C0	.;.;SO5A1_HUMAN;.	W	10	ENSP00000260126:G10W;ENSP00000434422:G10W;ENSP00000431611:G10W	ENSP00000260126:G10W	G	-	1	0	SLCO5A1	70907435	0.005000	0.15991	0.773000	0.31616	0.124000	0.20399	0.067000	0.14510	0.613000	0.30089	-0.494000	0.04653	GGG		0.617	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		4	98	4	98	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616633	77616633	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:77616633C>A	ENST00000521891.2	+	2	758	c.310C>A	c.(310-312)Cgc>Agc	p.R104S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.R104S(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCTAATGCCCGCCTTCCTGT	0.502										HNSCC(33;0.089)																												ENST00000521891.2																			1	Substitution - Missense(1)	p.R104S(1)	lung(1)	NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(310-312)Cgc>Agc		zinc finger homeobox 4							178.0	172.0	174.0					8																	77616633		2034	4174	6208	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616633C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.310C>A	8.37:g.77616633C>A	ENSP00000430497:p.Arg104Ser	HNSCC(33;0.089)	Somatic				ZFHX4_ENST00000050961.6_Missense_Mutation_p.R104S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R104S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R104S	p.R104S	NM_024721.4	NP_078997.4	WXS	Illumina GAIIx	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	758	+			104					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.310C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084448	0.55861	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76;1.76	5.43	5.43	0.79202	.	0.000000	0.45361	U	0.000364	T	0.44222	0.1283	L	0.36672	1.1	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.959	D;D;D;P	0.80764	0.987;0.994;0.994;0.668	T	0.28839	-1.0031	10	0.72032	D	0.01	.	19.4356	0.94792	0.0:1.0:0.0:0.0	.	104;104;104;104	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	S	104	ENSP00000430497:R104S;ENSP00000399605:R104S;ENSP00000050961:R104S;ENSP00000428525:R104S;ENSP00000427775:R104S;ENSP00000427739:R104S;ENSP00000430848:R104S	ENSP00000050961:R104S	R	+	1	0	ZFHX4	77779188	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.293000	0.78740	2.826000	0.97356	0.655000	0.94253	CGC		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		5	229	5	229	---	---	---	---
ZNF704	619279	broad.mit.edu	37	8	81733633	81733633	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:81733633G>T	ENST00000327835.3	-	2	428	c.197C>A	c.(196-198)tCc>tAc	p.S66Y		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	66							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ATCAATGTTGGAGGAAACAAC	0.448																																						ENST00000327835.3																			0				lung(9)|skin(1)|upper_aerodigestive_tract(1)	11						c.(196-198)tCc>tAc		zinc finger protein 704							293.0	269.0	277.0					8																	81733633		2203	4300	6503	SO:0001583	missense	619279					intracellular	zinc ion binding	g.chr8:81733633G>T	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.197C>A	8.37:g.81733633G>T	ENSP00000331462:p.Ser66Tyr		Somatic					p.S66Y	NM_001033723.2	NP_001028895.1	WXS	Illumina GAIIx	Phase_I	Q6ZNC4	ZN704_HUMAN	BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)		2	428	-	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		66					B2RNE6|B9EGW6	Missense_Mutation	SNP	ENST00000327835.3	37	c.197C>A	CCDS34913.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058435	0.76074	.	.	ENSG00000164684	ENST00000327835;ENST00000519936	T;T	0.30981	1.51;1.51	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	M	0.61703	1.905	0.58432	D	0.999999	D	0.69078	0.997	D	0.80764	0.994	T	0.51996	-0.8634	10	0.59425	D	0.04	-23.7802	18.4528	0.90710	0.0:0.0:1.0:0.0	.	66	Q6ZNC4	ZN704_HUMAN	Y	66	ENSP00000331462:S66Y;ENSP00000427715:S66Y	ENSP00000331462:S66Y	S	-	2	0	ZNF704	81896188	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.394000	0.73223	2.793000	0.96121	0.563000	0.77884	TCC		0.448	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379964.2	NM_001033723		9	270	9	270	---	---	---	---
KIAA1429	25962	broad.mit.edu	37	8	95565623	95565623	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:95565623G>T	ENST00000297591.5	-	1	128	c.53C>A	c.(52-54)cCg>cAg	p.P18Q	KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q|KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|RP11-267M23.4_ENST00000523011.1_lincRNA	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	18					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P18Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTCAGCGCTCGGGTGTTTAAA	0.537																																						ENST00000297591.5																			1	Substitution - Missense(1)	p.P18Q(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(52-54)cCg>cAg		KIAA1429							105.0	118.0	113.0					8																	95565623		2203	4300	6503	SO:0001583	missense	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95565623G>T	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.53C>A	8.37:g.95565623G>T	ENSP00000297591:p.Pro18Gln		Somatic				KIAA1429_ENST00000437199.1_Missense_Mutation_p.P18Q|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P18Q	p.P18Q	NM_015496.4	NP_056311.2	WXS	Illumina GAIIx	Phase_I	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		1	128	-	Breast(36;3.29e-05)		18					Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	ENST00000297591.5	37	c.53C>A	CCDS34923.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195053	0.38806	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.40225	1.04;1.06;1.06	5.17	4.23	0.50019	.	0.254751	0.39834	N	0.001244	T	0.11580	0.0282	N	0.00436	-1.5	0.36120	D	0.84542	B;B	0.06786	0.0;0.001	B;B	0.10450	0.002;0.005	T	0.26744	-1.0094	10	0.08179	T	0.78	-8.0852	10.9922	0.47555	0.0:0.0:0.6641:0.3359	.	18;18	Q69YN4-4;Q69YN4	.;VIR_HUMAN	Q	18	ENSP00000297591:P18Q;ENSP00000395600:P18Q;ENSP00000398390:P18Q	ENSP00000297591:P18Q	P	-	2	0	KIAA1429	95634799	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	4.929000	0.63455	2.560000	0.86352	0.650000	0.86243	CCG		0.537	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		6	189	6	189	---	---	---	---
PLEKHF2	79666	broad.mit.edu	37	8	96166912	96166912	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:96166912G>T	ENST00000315367.3	+	2	881	c.640G>T	c.(640-642)Ggg>Tgg	p.G214W	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	214					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					GCTTTCTGCTGGGGACATGGC	0.478																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(640-642)Ggg>Tgg		pleckstrin homology domain containing, family F (with FYVE domain) member 2							104.0	99.0	101.0					8																	96166912		2203	4300	6503	SO:0001583	missense	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166912G>T	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.640G>T	8.37:g.96166912G>T	ENSP00000322373:p.Gly214Trp		Somatic				PLEKHF2_ENST00000519516.1_Missense_Mutation_p.G214W	p.G214W	NM_024613.3	NP_078889.1	WXS	Illumina GAIIx	Phase_I	Q9H8W4	PKHF2_HUMAN			2	881	+	Breast(36;3.18e-05)		214						Missense_Mutation	SNP	ENST00000315367.3	37	c.640G>T	CCDS6267.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974780	0.74360	.	.	ENSG00000175895	ENST00000315367;ENST00000519516	D;D	0.81579	-1.51;-1.51	6.16	6.16	0.99307	.	0.047145	0.85682	D	0.000000	T	0.78761	0.4334	N	0.08118	0	0.80722	D	1	D	0.59357	0.985	P	0.55923	0.787	T	0.82339	-0.0506	10	0.66056	D	0.02	-10.7899	20.8598	0.99761	0.0:0.0:1.0:0.0	.	214	Q9H8W4	PKHF2_HUMAN	W	214	ENSP00000322373:G214W;ENSP00000427792:G214W	ENSP00000322373:G214W	G	+	1	0	PLEKHF2	96236088	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.361000	0.97122	2.937000	0.99478	0.650000	0.86243	GGG		0.478	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		6	163	6	163	---	---	---	---
ODF1	4956	broad.mit.edu	37	8	103564170	103564170	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:103564170C>A	ENST00000285402.3	+	1	371	c.215C>A	c.(214-216)cCa>cAa	p.P72Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	72	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATCTCTACCCATGTTGCCTG	0.483																																						ENST00000285402.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(214-216)cCa>cAa		outer dense fiber of sperm tails 1							281.0	231.0	248.0					8																	103564170		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564170C>A	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.215C>A	8.37:g.103564170C>A	ENSP00000285402:p.Pro72Gln		Somatic					p.P72Q	NM_024410.3	NP_077721.2	WXS	Illumina GAIIx	Phase_I	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	371	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		72			2 X 5 AA repeats of [RC]-C-L-C-D.		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.215C>A	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698669	0.68501	.	.	ENSG00000155087	ENST00000285402	T	0.33654	1.4	5.83	5.83	0.93111	.	0.117810	0.39020	N	0.001496	T	0.40791	0.1131	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.48043	-0.9069	10	0.54805	T	0.06	-14.0933	15.6153	0.76760	0.0:1.0:0.0:0.0	.	72	Q14990	ODFP1_HUMAN	Q	72	ENSP00000285402:P72Q	ENSP00000285402:P72Q	P	+	2	0	ODF1	103633346	0.874000	0.30092	0.914000	0.36105	0.720000	0.41350	3.754000	0.55189	2.750000	0.94351	0.655000	0.94253	CCA		0.483	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			7	194	7	194	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641020	122641020	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641020C>A	ENST00000303924.4	-	2	1098	c.561G>T	c.(559-561)tgG>tgT	p.W187C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	187					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.W187*(1)|p.W187C(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TTTTTCCACCCCATTTTTGCA	0.463																																						ENST00000303924.4																		HAS2/PLAG1(10)	2	Substitution - Missense(1)|Substitution - Nonsense(1)	p.W187*(1)|p.W187C(1)	ovary(1)|lung(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(559-561)tgG>tgT		hyaluronan synthase 2							232.0	210.0	217.0					8																	122641020		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641020C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.561G>T	8.37:g.122641020C>A	ENSP00000306991:p.Trp187Cys		Somatic					p.W187C	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1098	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		187					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.561G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113366	0.77210	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.59364	0.27	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77598	-0.2528	10	0.54805	T	0.06	-11.0399	20.5827	0.99408	0.0:1.0:0.0:0.0	.	187	Q92819	HAS2_HUMAN	C	187	ENSP00000306991:W187C	ENSP00000306991:W187C	W	-	3	0	HAS2	122710201	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.772000	0.85439	2.941000	0.99782	0.655000	0.94253	TGG		0.463	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		9	279	9	279	---	---	---	---
HAS2	3037	broad.mit.edu	37	8	122641109	122641109	+	Missense_Mutation	SNP	C	C	A	rs199934029	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:122641109C>A	ENST00000303924.4	-	2	1009	c.472G>T	c.(472-474)Ggt>Tgt	p.G158C		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	158					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)	p.G158S(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			TCTGTCTCACCGGGACCCTTT	0.433																																						ENST00000303924.4																		HAS2/PLAG1(10)	1	Substitution - Missense(1)	p.G158S(1)	endometrium(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38						c.(472-474)Ggt>Tgt		hyaluronan synthase 2							330.0	294.0	306.0					8																	122641109		2203	4300	6503	SO:0001583	missense	3037					integral to plasma membrane	hyaluronan synthase activity	g.chr8:122641109C>A	U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.472G>T	8.37:g.122641109C>A	ENSP00000306991:p.Gly158Cys		Somatic					p.G158C	NM_005328.2	NP_005319.1	WXS	Illumina GAIIx	Phase_I	Q92819	HAS2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		2	1009	-	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		158					Q32MM3	Missense_Mutation	SNP	ENST00000303924.4	37	c.472G>T	CCDS6335.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191040	0.58017	.	.	ENSG00000170961	ENST00000303924;ENST00000443194	T	0.48201	0.82	5.87	5.87	0.94306	.	0.198213	0.53938	D	0.000041	T	0.52517	0.1739	L	0.46157	1.445	0.34768	D	0.733391	D	0.55172	0.97	P	0.52758	0.708	T	0.60697	-0.7212	10	0.39692	T	0.17	-15.7134	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	158	Q92819	HAS2_HUMAN	C	158	ENSP00000306991:G158C	ENSP00000306991:G158C	G	-	1	0	HAS2	122710290	0.925000	0.31364	0.932000	0.37286	0.711000	0.40976	3.910000	0.56371	2.941000	0.99782	0.655000	0.94253	GGT		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381150.2	NM_005328		6	320	6	320	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124693518	124693518	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:124693518C>A	ENST00000419625.1	-	11	985	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	ANXA13_ENST00000262219.6_Missense_Mutation_p.G346W	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	305					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.G346W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGAAGTCCCCGGAGGTATCT	0.498																																						ENST00000262219.6																			1	Substitution - Missense(1)	p.G346W(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(1036-1038)Ggg>Tgg		annexin A13							211.0	219.0	216.0					8																	124693518		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124693518C>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.913G>T	8.37:g.124693518C>A	ENSP00000390809:p.Gly305Trp		Somatic				ANXA13_ENST00000419625.1_Missense_Mutation_p.G305W	p.G346W	NM_001003954.1	NP_001003954.1	WXS	Illumina GAIIx	Phase_I	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		12	1103	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		305					Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.1036G>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693829	0.48202	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	T;T	0.19394	2.15;2.15	5.71	5.71	0.89125	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.61527	0.2354	H	0.96333	3.805	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74041	-0.3792	10	0.87932	D	0	.	16.7595	0.85508	0.0:1.0:0.0:0.0	.	305;346	P27216;P27216-2	ANX13_HUMAN;.	W	346;305	ENSP00000262219:G346W;ENSP00000390809:G305W	ENSP00000262219:G346W	G	-	1	0	ANXA13	124762699	1.000000	0.71417	0.998000	0.56505	0.037000	0.13140	5.069000	0.64370	2.688000	0.91661	0.655000	0.94253	GGG		0.498	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		8	379	8	379	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125094647	125094647	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125094647C>A	ENST00000522917.1	+	33	4545	c.4339C>A	c.(4339-4341)Cgc>Agc	p.R1447S	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1447						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTGGAGAACCGCTTCTACAG	0.488																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(4339-4341)Cgc>Agc		fer-1-like 6 (C. elegans)							189.0	201.0	197.0					8																	125094647		2203	4300	6503	SO:0001583	missense	654463					integral to membrane		g.chr8:125094647C>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4339C>A	8.37:g.125094647C>A	ENSP00000428280:p.Arg1447Ser		Somatic				FER1L6_ENST00000399018.1_Missense_Mutation_p.R1447S|FER1L6-AS2_ENST00000520031.1_RNA	p.R1447S	NM_001039112.2	NP_001034201.2	WXS	Illumina GAIIx	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		33	4545	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1447						Missense_Mutation	SNP	ENST00000522917.1	37	c.4339C>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296455	0.95574	.	.	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79940	-1.32;-1.32	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.92662	0.7668	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93493	0.6837	10	0.87932	D	0	-20.4626	20.27	0.98469	0.0:1.0:0.0:0.0	.	1447	Q2WGJ9	FR1L6_HUMAN	S	1447	ENSP00000428280:R1447S;ENSP00000381982:R1447S	ENSP00000381982:R1447S	R	+	1	0	FER1L6	125163828	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.930000	0.70104	2.854000	0.98071	0.655000	0.94253	CGC		0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		5	237	5	237	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125498995	125498995	+	IGR	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:125498995G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Nonsense_Mutation_p.G369*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTATCCATGGAATGACAGA	0.413																																						ENST00000303545.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(1105-1107)Gga>Tga		ring finger protein 139							325.0	316.0	319.0					8																	125498995		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498995G>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498995G>T			Somatic					p.G369*	NM_007218.3	NP_009149.2	WXS	Illumina GAIIx	Phase_I	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1477	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		369					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.1105G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	38	7.147384	0.98096	.	.	ENSG00000170881	ENST00000303545	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-12.1645	19.2104	0.93751	0.0:0.0:1.0:0.0	.	.	.	.	X	369	.	ENSP00000304051:G369X	G	+	1	0	RNF139	125568176	1.000000	0.71417	0.969000	0.41365	0.943000	0.58893	9.071000	0.93980	2.590000	0.87494	0.655000	0.94253	GGA		0.413	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		7	389	7	389	---	---	---	---
TG	7038	broad.mit.edu	37	8	133909917	133909917	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:133909917C>A	ENST00000220616.4	+	12	3065	c.3025C>A	c.(3025-3027)Cgc>Agc	p.R1009S	TG_ENST00000377869.1_Missense_Mutation_p.R1009S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1009	Thyroglobulin type-1 8. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCAGAGACGCCGCTTTTCCCC	0.567																																						ENST00000220616.4																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(3025-3027)Cgc>Agc		thyroglobulin							115.0	122.0	120.0					8																	133909917		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133909917C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3025C>A	8.37:g.133909917C>A	ENSP00000220616:p.Arg1009Ser		Somatic				TG_ENST00000377869.1_Missense_Mutation_p.R1009S	p.R1009S	NM_003235.4	NP_003226.4	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	12	3065	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	1009			Thyroglobulin type-1 8.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.3025C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.891956	0.52014	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.62788	-0.0;-0.0	5.59	-0.869	0.10649	Thyroglobulin type-1 (1);	1.644560	0.02987	N	0.146370	T	0.53286	0.1787	L	0.56769	1.78	0.09310	N	1	B	0.29936	0.262	B	0.23419	0.046	T	0.30149	-0.9988	10	0.42905	T	0.14	.	2.4875	0.04602	0.1997:0.3274:0.3385:0.1344	.	1009	P01266	THYG_HUMAN	S	1009	ENSP00000367100:R1009S;ENSP00000220616:R1009S	ENSP00000220616:R1009S	R	+	1	0	TG	133979099	0.000000	0.05858	0.002000	0.10522	0.613000	0.37349	-0.993000	0.03720	-0.001000	0.14495	0.655000	0.94253	CGC		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		5	227	5	227	---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144940861	144940861	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:144940861G>T	ENST00000525985.1	-	2	6632	c.6561C>A	c.(6559-6561)ctC>ctA	p.L2187L				P58107	EPIPL_HUMAN	epiplakin 1	2187						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)			TGGCTGAGCTGAGGAGTTCAG	0.537																																						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.(6559-6561)ctC>ctA		epiplakin 1							242.0	251.0	248.0					8																	144940861		2067	4209	6276	SO:0001819	synonymous_variant	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940861G>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.6561C>A	8.37:g.144940861G>T			Somatic					p.L2187L			WXS	Illumina GAIIx	Phase_I	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	6632	-	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)		2187					Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37	c.6561C>A																																																																																					0.537	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	357	9	357	---	---	---	---
EXOSC4	54512	broad.mit.edu	37	8	145134858	145134858	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:145134858C>A	ENST00000316052.5	+	2	287	c.184C>A	c.(184-186)Cgg>Agg	p.R62R	EXOSC4_ENST00000525936.1_Silent_p.R62R|GPAA1_ENST00000355091.4_5'Flank|GPAA1_ENST00000361036.6_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	62					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)	p.R62R(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCGGGGCTCCCGGGCTCGAGC	0.612																																						ENST00000316052.5																			1	Substitution - coding silent(1)	p.R62R(1)	lung(1)	lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7						c.(184-186)Cgg>Agg		exosome component 4							82.0	93.0	89.0					8																	145134858		2203	4300	6503	SO:0001819	synonymous_variant	54512				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	g.chr8:145134858C>A	AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.184C>A	8.37:g.145134858C>A			Somatic				EXOSC4_ENST00000525936.1_Silent_p.R62R	p.R62R	NM_019037.2	NP_061910.1	WXS	Illumina GAIIx	Phase_I	Q9NPD3	EXOS4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	287	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		62						Silent	SNP	ENST00000316052.5	37	c.184C>A	CCDS6414.1																																																																																				0.612	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384065.1	NM_019037		6	216	6	216	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33986767	33986767	+	Silent	SNP	G	G	T	rs368580806		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:33986767G>T	ENST00000379238.1	-	6	628	c.511C>A	c.(511-513)Cgg>Agg	p.R171R	UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000360802.1_Silent_p.R171R					ubiquitin associated protein 2									p.R171R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CCTCTACCCCGGGCTCGCTTG	0.463																																						ENST00000379238.1																			1	Substitution - coding silent(1)	p.R171R(1)	lung(1)	endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(511-513)Cgg>Agg		ubiquitin associated protein 2							299.0	302.0	301.0					9																	33986767		2203	4300	6503	SO:0001819	synonymous_variant	55833							g.chr9:33986767G>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.511C>A	9.37:g.33986767G>T			Somatic				UBAP2_ENST00000418786.2_Silent_p.R171R|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000360802.1_Silent_p.R171R|UBAP2_ENST00000449054.1_Silent_p.R171R|UBAP2_ENST00000379239.4_5'UTR	p.R171R			WXS	Illumina GAIIx	Phase_I	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	6	628	-			171						Silent	SNP	ENST00000379238.1	37	c.511C>A	CCDS6547.1																																																																																				0.463	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		7	449	7	449	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35043625	35043625	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35043625C>A	ENST00000312292.5	+	2	1046	c.999C>A	c.(997-999)ccC>ccA	p.P333P	C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	333										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AAAAGATGCCCCAAGCTTTTG	0.542																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(997-999)ccC>ccA		chromosome 9 open reading frame 131							169.0	192.0	185.0					9																	35043625		2203	4300	6503	SO:0001819	synonymous_variant	138724							g.chr9:35043625C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.999C>A	9.37:g.35043625C>A			Somatic				C9orf131_ENST00000354479.5_Silent_p.P260P|C9orf131_ENST00000421362.2_Silent_p.P285P	p.P333P	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	1046	+	all_epithelial(49;0.22)		333					A6NLE6|E9PB26|Q86XC6|Q9UF74	Silent	SNP	ENST00000312292.5	37	c.999C>A	CCDS6572.2																																																																																				0.542	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		10	362	10	362	---	---	---	---
C9orf131	138724	broad.mit.edu	37	9	35045210	35045210	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:35045210C>A	ENST00000312292.5	+	2	2631	c.2584C>A	c.(2584-2586)Cac>Aac	p.H862N	C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N|FLJ00273_ENST00000595331.1_5'Flank	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	862										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CCAGTCCTCCCACTGTCATCA	0.547																																						ENST00000312292.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39						c.(2584-2586)Cac>Aac		chromosome 9 open reading frame 131							264.0	271.0	269.0					9																	35045210		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35045210C>A	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2584C>A	9.37:g.35045210C>A	ENSP00000308279:p.His862Asn		Somatic				C9orf131_ENST00000354479.5_Missense_Mutation_p.H789N|C9orf131_ENST00000421362.2_Missense_Mutation_p.H814N	p.H862N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	WXS	Illumina GAIIx	Phase_I	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2631	+	all_epithelial(49;0.22)		862					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2584C>A	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405350	0.42715	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.27104	1.71;1.69;1.74	3.97	3.07	0.35406	.	0.849899	0.10095	N	0.716687	T	0.40645	0.1125	M	0.68317	2.08	0.09310	N	1	D;D;D;D	0.62365	0.99;0.982;0.991;0.991	P;P;P;P	0.57324	0.818;0.682;0.8;0.8	T	0.13683	-1.0500	10	0.45353	T	0.12	-0.0129	7.5174	0.27608	0.0:0.8802:0.0:0.1198	.	337;862;789;814	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	N	814;789;862;337	ENSP00000393683:H814N;ENSP00000346472:H789N;ENSP00000308279:H862N	ENSP00000308279:H862N	H	+	1	0	C9orf131	35035210	0.000000	0.05858	0.003000	0.11579	0.014000	0.08584	0.712000	0.25779	1.023000	0.39654	0.563000	0.77884	CAC		0.547	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299		8	388	8	388	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746737	37746737	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:37746737C>A	ENST00000539465.1	+	16	5301	c.4708C>A	c.(4708-4710)Cag>Aag	p.Q1570K	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1570						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGTTTGACCCAGAAGTTCCG	0.622																																						ENST00000539465.1																			0				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(4708-4710)Cag>Aag		FERM and PDZ domain containing 1							68.0	75.0	73.0					9																	37746737		2202	4299	6501	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746737C>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4708C>A	9.37:g.37746737C>A	ENSP00000444411:p.Gln1570Lys		Somatic				FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q1570K|RP11-613M10.9_ENST00000540557.1_Intron	p.Q1570K			WXS	Illumina GAIIx	Phase_I	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	5301	+			1570					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4708C>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029256	0.75504	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.11821	2.74;2.74	5.71	5.71	0.89125	.	0.060743	0.64402	D	0.000002	T	0.19485	0.0468	M	0.61703	1.905	0.80722	D	1	P	0.39665	0.682	B	0.37650	0.255	T	0.00804	-1.1559	10	0.59425	D	0.04	-2.3163	17.3577	0.87341	0.0:1.0:0.0:0.0	.	1570	Q5SYB0	FRPD1_HUMAN	K	1570	ENSP00000366995:Q1570K;ENSP00000444411:Q1570K	ENSP00000366995:Q1570K	Q	+	1	0	FRMPD1	37736737	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.970000	0.76099	2.704000	0.92352	0.655000	0.94253	CAG		0.622	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		6	147	6	147	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73235187	73235187	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:73235187G>T	ENST00000377111.2	-	15	2141	c.1898C>A	c.(1897-1899)cCc>cAc	p.P633H	TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H|TRPM3_ENST00000377110.3_Missense_Mutation_p.P633H|TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	658					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAAGGGAAGGGGAAGTGGTT	0.522																																						ENST00000377110.3																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(1897-1899)cCc>cAc		transient receptor potential cation channel, subfamily M, member 3							241.0	205.0	217.0					9																	73235187		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73235187G>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1898C>A	9.37:g.73235187G>T	ENSP00000366315:p.Pro633His		Somatic				TRPM3_ENST00000396285.1_Missense_Mutation_p.P480H|TRPM3_ENST00000396292.4_Missense_Mutation_p.P505H|TRPM3_ENST00000408909.2_Missense_Mutation_p.P492H|TRPM3_ENST00000396280.5_Missense_Mutation_p.P482H|TRPM3_ENST00000377106.1_Missense_Mutation_p.P505H|TRPM3_ENST00000360823.2_Missense_Mutation_p.P495H|TRPM3_ENST00000358082.3_Missense_Mutation_p.P495H|TRPM3_ENST00000377111.2_Missense_Mutation_p.P633H|TRPM3_ENST00000423814.3_Missense_Mutation_p.P660H|TRPM3_ENST00000377105.1_Missense_Mutation_p.P492H|TRPM3_ENST00000357533.2_Missense_Mutation_p.P637H	p.P633H			WXS	Illumina GAIIx	Phase_I	Q9HCF6	TRPM3_HUMAN			15	2141	-								A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.1898C>A		.	.	.	.	.	.	.	.	.	.	G	16.46	3.129194	0.56721	.	.	ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71;-0.71	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	N	0.24115	0.695	0.49915	D	0.999838	B;B;P;B;B;B;P;D	0.54047	0.434;0.159;0.589;0.431;0.431;0.335;0.611;0.964	B;B;B;B;B;B;B;P	0.56042	0.236;0.112;0.236;0.179;0.179;0.084;0.236;0.79	T	0.73139	-0.4077	10	0.49607	T	0.09	-15.0314	20.6439	0.99570	0.0:0.0:1.0:0.0	.	633;633;623;637;495;492;605;480	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.;.	H	633;633;505;495;492;637;492;480;505;495;660	ENSP00000366315:P633H;ENSP00000366314:P633H;ENSP00000366310:P505H;ENSP00000354066:P495H;ENSP00000366309:P492H;ENSP00000350140:P637H;ENSP00000386127:P492H;ENSP00000379581:P480H;ENSP00000379587:P505H;ENSP00000350791:P495H;ENSP00000389542:P660H	ENSP00000350140:P637H	P	-	2	0	TRPM3	72425007	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.592000	0.61027	2.890000	0.99128	0.650000	0.86243	CCC		0.522	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		7	197	7	197	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79252395	79252395	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:79252395G>T	ENST00000376718.3	-	14	9025	c.8902C>A	c.(8902-8904)Cca>Aca	p.P2968T	PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T|PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000428286.1_Missense_Mutation_p.P2610T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2968	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCCTTCTTGGGGTTGCACCA	0.398																																						ENST00000428286.1																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(7828-7830)Cca>Aca		prune homolog 2 (Drosophila)							230.0	206.0	213.0					9																	79252395		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79252395G>T	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8902C>A	9.37:g.79252395G>T	ENSP00000365908:p.Pro2968Thr		Somatic				PRUNE2_ENST00000443509.2_Missense_Mutation_p.P217T|PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2968T|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Missense_Mutation_p.P233T	p.P2610T			WXS	Illumina GAIIx	Phase_I	Q8WUY3	PRUN2_HUMAN			14	9028	-			2968					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.7828C>A	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.70|12.70	2.017413|2.017413	0.35606|0.35606	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376717;ENST00000376718;ENST00000428286;ENST00000441554;ENST00000443509;ENST00000424866;ENST00000223609;ENST00000422033	.|T;T;T;T;T;T	.|0.25414	.|1.8;1.8;1.8;1.8;1.8;1.8	5.29|5.29	4.38|4.38	0.52667|0.52667	.|Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.103465|0.103465	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.37433|0.37433	0.1003|0.1003	L|L	0.31420|0.31420	0.93|0.93	0.54753|0.54753	D|D	0.999986|0.999986	.|P;B;D;D	.|0.89917	.|0.624;0.109;0.994;1.0	.|B;B;P;D	.|0.91635	.|0.42;0.09;0.891;0.999	T|T	0.08106|0.08106	-1.0738|-1.0738	6|10	.|0.19147	.|T	.|0.46	-9.5904|-9.5904	16.2824|16.2824	0.82697|0.82697	0.0:0.1327:0.8673:0.0|0.0:0.1327:0.8673:0.0	.|.	.|233;232;217;2968	.|B4DSQ3;Q8WUY3-5;B4DJW7;Q8WUY3	.|.;.;.;PRUN2_HUMAN	H|T	2292|233;2968;2610;189;217;141;233;2971	.|ENSP00000365907:P233T;ENSP00000365908:P2968T;ENSP00000397425:P2610T;ENSP00000393843:P217T;ENSP00000393657:P141T;ENSP00000223609:P233T	.|ENSP00000223609:P233T	P|P	-|-	2|1	0|0	PRUNE2|PRUNE2	78442215|78442215	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.375000|5.375000	0.66173|0.66173	1.354000|1.354000	0.45846|0.45846	0.561000|0.561000	0.74099|0.74099	CCC|CCA		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		8	214	8	214	---	---	---	---
CTSL	1514	broad.mit.edu	37	9	90343536	90343536	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:90343536G>T	ENST00000343150.5	+	5	1323	c.433G>T	c.(433-435)Ggt>Tgt	p.G145C	CTSL_ENST00000340342.6_Missense_Mutation_p.G145C|CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron			P07711	CATL1_HUMAN	cathepsin L	145					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|macrophage apoptotic process (GO:0071888)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|nucleus (GO:0005634)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|histone binding (GO:0042393)|proteoglycan binding (GO:0043394)										TAGTGCTACTGGTGCTCTTGA	0.443																																						ENST00000343150.5																			0											c.(433-435)Ggt>Tgt		cathepsin L							152.0	156.0	155.0					9																	90343536		2203	4300	6503	SO:0001583	missense	1514							g.chr9:90343536G>T	X12451	CCDS6675.1	9q21.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000135047	ENSG00000135047	3.4.22.15	"""Cathepsins"""	2537	protein-coding gene	gene with protein product		116880	"""cathepsin L1"""	CTSL1		8419312, 2835398	Standard	NM_145918		Approved	FLJ31037	uc004apk.4	P07711	OTTHUMG00000020149	ENST00000343150.5:c.433G>T	9.37:g.90343536G>T	ENSP00000345344:p.Gly145Cys		Somatic				CTSL_ENST00000342020.5_Missense_Mutation_p.G145C|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000340342.6_Missense_Mutation_p.G145C	p.G145C			WXS	Illumina GAIIx	Phase_I					5	1323	+								Q6IAV1|Q96QJ0	Missense_Mutation	SNP	ENST00000343150.5	37	c.433G>T	CCDS6675.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391503	0.83011	.	.	ENSG00000135047	ENST00000343150;ENST00000340342;ENST00000342020	T;T;T	0.27557	1.66;1.66;1.66	4.51	4.51	0.55191	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84173	0.0435	10	0.87932	D	0	.	17.4172	0.87504	0.0:0.0:1.0:0.0	.	145	P07711	CATL1_HUMAN	C	145	ENSP00000345344:G145C;ENSP00000365061:G145C;ENSP00000340470:G145C	ENSP00000365061:G145C	G	+	1	0	CTSL1	89533356	1.000000	0.71417	0.118000	0.21660	0.947000	0.59692	8.669000	0.91163	2.327000	0.79052	0.655000	0.94253	GGT		0.443	CTSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052936.1	NM_001912		6	189	6	189	---	---	---	---
SPTLC1	10558	broad.mit.edu	37	9	94797094	94797094	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:94797094G>T	ENST00000262554.2	-	14	1331	c.1326C>A	c.(1324-1326)ccC>ccA	p.P442P		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	442					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	CAACTGACCTGGGAGGAGGGA	0.388																																						ENST00000262554.2																			0				breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						c.(1324-1326)ccC>ccA		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						163.0	148.0	153.0					9																	94797094		2203	4300	6503	SO:0001819	synonymous_variant	10558					integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr9:94797094G>T	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1326C>A	9.37:g.94797094G>T			Somatic					p.P442P	NM_006415.2	NP_006406.1	WXS	Illumina GAIIx	Phase_I	O15269	SPTC1_HUMAN			14	1331	-			442					A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	c.1326C>A	CCDS6692.1																																																																																				0.388	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415		6	153	6	153	---	---	---	---
FANCC	2176	broad.mit.edu	37	9	97873771	97873771	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:97873771C>A	ENST00000289081.3	-	13	1557	c.1303G>T	c.(1303-1305)Ggg>Tgg	p.G435W	FANCC_ENST00000464653.1_5'Flank|RP11-80I15.4_ENST00000423075.1_RNA|FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	435					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGCTGCCTCCCATCACGGGGG	0.632			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(1303-1305)Ggg>Tgg	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							66.0	71.0	70.0					9																	97873771		2203	4300	6503	SO:0001583	missense	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97873771C>A	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1303G>T	9.37:g.97873771C>A	ENSP00000289081:p.Gly435Trp		Somatic				FANCC_ENST00000375305.1_Missense_Mutation_p.G435W	p.G435W	NM_000136.2	NP_000127.2	WXS	Illumina GAIIx	Phase_I	Q00597	FANCC_HUMAN			13	1557	-		Acute lymphoblastic leukemia(62;0.138)	435					B1ALR8	Missense_Mutation	SNP	ENST00000289081.3	37	c.1303G>T	CCDS35071.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734428	0.30774	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.52295	0.67;0.67	5.93	0.463	0.16700	.	0.531897	0.22469	N	0.059657	T	0.56543	0.1992	M	0.63428	1.95	0.09310	N	1	D	0.76494	0.999	D	0.70487	0.969	T	0.42032	-0.9475	10	0.66056	D	0.02	-8.5025	4.9847	0.14183	0.1031:0.5891:0.1113:0.1966	.	435	Q00597	FANCC_HUMAN	W	435	ENSP00000289081:G435W;ENSP00000364454:G435W	ENSP00000289081:G435W	G	-	1	0	FANCC	96913592	0.001000	0.12720	0.001000	0.08648	0.022000	0.10575	0.845000	0.27668	0.372000	0.24591	0.563000	0.77884	GGG		0.632	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		6	130	6	130	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101748233	101748233	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101748233C>A	ENST00000375001.3	+	3	910	c.487C>A	c.(487-489)Cgc>Agc	p.R163S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	163	Laminin G-like.		R -> H (in dbSNP:rs2075662).		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAGGTGGAACCGCTTCGCCAT	0.612																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(487-489)Cgc>Agc		collagen, type XV, alpha 1							105.0	100.0	102.0					9																	101748233		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101748233C>A	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.487C>A	9.37:g.101748233C>A	ENSP00000364140:p.Arg163Ser		Somatic					p.R163S	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			3	910	+		Acute lymphoblastic leukemia(62;0.0562)	163		R -> H (in dbSNP:rs2075662).	TSP N-terminal.		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.487C>A	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929407	0.34096	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	T	0.73363	-0.74	5.25	4.35	0.52113	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.299857	0.37178	N	0.002213	T	0.69531	0.3121	L	0.41710	1.295	0.37645	D	0.922189	B;P	0.41232	0.23;0.743	B;P	0.44673	0.182;0.457	T	0.72427	-0.4297	10	0.39692	T	0.17	-1.3674	11.9859	0.53147	0.0:0.9148:0.0:0.0852	.	163;133	P39059;B3KTP7	COFA1_HUMAN;.	S	163;133	ENSP00000364140:R163S	ENSP00000364140:R163S	R	+	1	0	COL15A1	100788054	0.234000	0.23783	0.993000	0.49108	0.450000	0.32258	1.563000	0.36364	1.350000	0.45770	0.650000	0.86243	CGC		0.612	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		5	133	5	133	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1765-1767)gGa>gTa		collagen, type XV, alpha 1							58.0	58.0	58.0					9																	101785643		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101785643G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1766G>T	9.37:g.101785643G>T	ENSP00000364140:p.Gly589Val		Somatic					p.G589V	NM_001855.3	NP_001846.3	WXS	Illumina GAIIx	Phase_I	P39059	COFA1_HUMAN			14	2189	+		Acute lymphoblastic leukemia(62;0.0562)	589			Nonhelical region 2 (NC2).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1766G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	5.774	0.327203	0.10900	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89552	-2.53	3.64	0.748	0.18376	.	2.825870	0.01598	N	0.021884	T	0.78984	0.4370	N	0.22421	0.69	0.09310	N	0.999999	P	0.41313	0.745	B	0.35655	0.207	T	0.69075	-0.5241	10	0.10636	T	0.68	4.0824	6.122	0.20157	0.3389:0.0:0.6611:0.0	.	589	P39059	COFA1_HUMAN	V	589;559	ENSP00000364140:G589V	ENSP00000364140:G589V	G	+	2	0	COL15A1	100825464	0.004000	0.15560	0.000000	0.03702	0.304000	0.27724	-0.363000	0.07593	0.162000	0.19483	0.462000	0.41574	GGA		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		25	43	25	43	---	---	---	---
TMEM245	23731	broad.mit.edu	37	9	111849550	111849550	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:111849550C>A	ENST00000374586.3	-	6	1254	c.1223G>T	c.(1222-1224)tGg>tTg	p.W408L		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	408						integral component of membrane (GO:0016021)											TATAATGCCCCACCACACATG	0.423																																						ENST00000374586.3																			0											c.(1222-1224)tGg>tTg		transmembrane protein 245							95.0	90.0	91.0					9																	111849550		1833	4094	5927	SO:0001583	missense	23731					integral to membrane		g.chr9:111849550C>A	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1223G>T	9.37:g.111849550C>A	ENSP00000363714:p.Trp408Leu		Somatic					p.W408L	NM_032012.3	NP_114401.2	WXS	Illumina GAIIx	Phase_I	Q9H330	CI005_HUMAN			6	1254	-			408					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Missense_Mutation	SNP	ENST00000374586.3	37	c.1223G>T	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797803	0.31777	.	.	ENSG00000106771	ENST00000374587;ENST00000374586;ENST00000223608	T	0.24350	1.86	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	L	0.41236	1.265	0.52099	D	0.999947	D;D	0.76494	0.998;0.999	D;D	0.80764	0.994;0.994	T	0.03587	-1.1022	10	0.17369	T	0.5	-7.2081	20.1271	0.97986	0.0:1.0:0.0:0.0	.	408;408	Q9H330-2;Q9H330	.;CI005_HUMAN	L	408	ENSP00000363714:W408L	ENSP00000223608:W408L	W	-	2	0	C9orf5	110889371	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	6.294000	0.72738	2.758000	0.94735	0.563000	0.77884	TGG		0.423	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	NM_032012		6	103	6	103	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113217947	113217947	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:113217947G>T	ENST00000401783.2	-	22	4046	c.3710C>A	c.(3709-3711)cCa>cAa	p.P1237Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1237	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCAAGGCAGTGGGCTGCACTC	0.443																																						ENST00000401783.2																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						c.(3709-3711)cCa>cAa		sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1							74.0	70.0	72.0					9																	113217947		1922	4130	6052	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113217947G>T	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3710C>A	9.37:g.113217947G>T	ENSP00000384917:p.Pro1237Gln		Somatic				SVEP1_ENST00000302728.8_Missense_Mutation_p.P1237Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1214Q	p.P1237Q	NM_153366.3	NP_699197.3	WXS	Illumina GAIIx	Phase_I	Q4LDE5	SVEP1_HUMAN			22	4046	-			1237			EGF-like 2; calcium-binding (Potential).		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.3710C>A	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648256	0.67358	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.91577	-2.87;-2.87;-2.87	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.055176	0.85682	D	0.000000	D	0.89836	0.6830	L	0.48174	1.505	0.39311	D	0.965076	B;B	0.32010	0.351;0.096	B;B	0.36418	0.224;0.202	D	0.89053	0.3457	10	0.66056	D	0.02	.	20.0206	0.97499	0.0:0.0:1.0:0.0	.	1237;1237	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	Q	1237;1214;1237	ENSP00000384917:P1237Q;ENSP00000363593:P1214Q;ENSP00000304118:P1237Q	ENSP00000304118:P1237Q	P	-	2	0	SVEP1	112257768	1.000000	0.71417	0.940000	0.37924	0.243000	0.25628	9.442000	0.97566	2.731000	0.93534	0.591000	0.81541	CCA		0.443	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	35	5	35	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117852972	117852972	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:117852972C>A	ENST00000350763.4	-	2	737	c.326G>T	c.(325-327)cGg>cTg	p.R109L	TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L|TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	109					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCACAGGCCCGGCGGGGGAT	0.587																																						ENST00000350763.4																			0				NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						c.(325-327)cGg>cTg		tenascin C							187.0	197.0	193.0					9																	117852972		2203	4300	6503	SO:0001583	missense	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117852972C>A		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.326G>T	9.37:g.117852972C>A	ENSP00000265131:p.Arg109Leu		Somatic				TNC_ENST00000340094.3_Missense_Mutation_p.R109L|TNC_ENST00000345230.3_Missense_Mutation_p.R109L|TNC_ENST00000535648.1_Missense_Mutation_p.R109L|TNC_ENST00000537320.1_Missense_Mutation_p.R109L|TNC_ENST00000423613.2_Missense_Mutation_p.R109L|TNC_ENST00000346706.3_Missense_Mutation_p.R109L|TNC_ENST00000341037.4_Missense_Mutation_p.R109L|TNC_ENST00000542877.1_Missense_Mutation_p.R109L	p.R109L	NM_002160.3	NP_002151.2	WXS	Illumina GAIIx	Phase_I	P24821	TENA_HUMAN			2	737	-			109					C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	ENST00000350763.4	37	c.326G>T	CCDS6811.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155856	0.78114	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.84	3.02	0.34903	.	0.166320	0.53938	D	0.000055	T	0.48892	0.1525	L	0.60455	1.87	0.44168	D	0.996976	D;D	0.61080	0.989;0.989	P;P	0.59948	0.866;0.809	T	0.43637	-0.9379	10	0.62326	D	0.03	.	10.4362	0.44437	0.0:0.7891:0.0:0.2109	.	109;109	E9PC84;P24821	.;TENA_HUMAN	L	109	ENSP00000344400:R109L;ENSP00000438152:R109L;ENSP00000344555:R109L;ENSP00000345861:R109L;ENSP00000265131:R109L;ENSP00000339553:R109L;ENSP00000411406:R109L;ENSP00000443478:R109L;ENSP00000442242:R109L	ENSP00000344400:R109L	R	-	2	0	TNC	116892793	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.636000	0.37144	0.381000	0.24851	-0.136000	0.14681	CGG		0.587	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160		7	429	7	429	---	---	---	---
HSPA5	3309	broad.mit.edu	37	9	127999063	127999063	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:127999063C>A	ENST00000324460.6	-	8	1976	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	591					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	CCATGGTCTCCTTATCTTCAG	0.393										Prostate(1;0.17)																												ENST00000324460.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1771-1773)aaG>aaT		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						83.0	87.0	86.0					9																	127999063		2203	4297	6500	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127999063C>A		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1773G>T	9.37:g.127999063C>A	ENSP00000324173:p.Lys591Asn	Prostate(1;0.17)	Somatic					p.K591N	NM_005347.4	NP_005338.1	WXS	Illumina GAIIx	Phase_I	P11021	GRP78_HUMAN			8	1976	-			591					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1773G>T	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639587	0.47153	.	.	ENSG00000044574	ENST00000324460	T	0.19806	2.12	4.67	0.649	0.17806	.	0.000000	0.85682	D	0.000000	T	0.54565	0.1866	H	0.97659	4.05	0.80722	D	1	D	0.57257	0.979	D	0.67103	0.949	T	0.62181	-0.6908	10	0.87932	D	0	-11.182	9.1237	0.36801	0.0:0.5899:0.0:0.4101	.	591	P11021	GRP78_HUMAN	N	591	ENSP00000324173:K591N	ENSP00000324173:K591N	K	-	3	2	HSPA5	127038884	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	1.069000	0.30641	0.147000	0.19030	-0.966000	0.02617	AAG		0.393	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			6	131	6	131	---	---	---	---
LMX1B	4010	broad.mit.edu	37	9	129455528	129455528	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:129455528C>A	ENST00000373474.4	+	4	674	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	LMX1B_ENST00000355497.5_Silent_p.R223R|LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000526117.1_Silent_p.R223R			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	223			R -> Q (in NPS; dbSNP:rs28939692). {ECO:0000269|PubMed:11668639, ECO:0000269|PubMed:9837817}.		cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R223G(1)|p.R200G(1)		endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CAAGCGACCCCGGACCATCCT	0.682									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5																			2	Substitution - Missense(2)	p.R223G(1)|p.R200G(1)	lung(2)	endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(667-669)Cgg>Agg		LIM homeobox transcription factor 1, beta							37.0	40.0	39.0					9																	129455528		2200	4297	6497	SO:0001819	synonymous_variant	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455528C>A	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.667C>A	9.37:g.129455528C>A			Somatic				LMX1B_ENST00000425646.2_Silent_p.R200R|LMX1B_ENST00000561065.1_Silent_p.R200R|LMX1B_ENST00000373474.4_Silent_p.R223R|LMX1B_ENST00000526117.1_Silent_p.R223R	p.R223R	NM_001174146.1	NP_001167617.1	WXS	Illumina GAIIx	Phase_I	O60663	LMX1B_HUMAN			4	674	+			200					F8W7W6|O75463|Q5JU95|Q6ISC9	Silent	SNP	ENST00000373474.4	37	c.667C>A	CCDS55342.1																																																																																				0.682	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2			3	9	3	9	---	---	---	---
POMT1	10585	broad.mit.edu	37	9	134390831	134390831	+	Silent	SNP	C	C	A	rs371653610		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:134390831C>A	ENST00000372228.3	+	13	1439	c.1260C>A	c.(1258-1260)ccC>ccA	p.P420P	POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000404875.2_Silent_p.P281P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000423007.1_Silent_p.P398P|RP11-334J6.6_ENST00000415423.1_RNA	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	420	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.				carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTGCAGCCCCCCTGAGCCCCC	0.502																																						ENST00000423007.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31	GRCh37	CD040921	POMT1	D		c.(1192-1194)ccC>ccA		protein-O-mannosyltransferase 1		C	,,,,	0,4406		0,0,2203	120.0	118.0	119.0		1194,1032,1194,843,1260	-10.0	0.0	9		119	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	POMT1	NM_001077365.1,NM_001077366.1,NM_001136113.1,NM_001136114.1,NM_007171.3	,,,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,,,	398/726,344/672,398/726,281/609,420/748	134390831	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10585				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr9:134390831C>A	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.1260C>A	9.37:g.134390831C>A			Somatic				POMT1_ENST00000354713.4_Silent_p.P368P|POMT1_ENST00000341012.7_Silent_p.P344P|POMT1_ENST00000419118.2_Silent_p.P246P|POMT1_ENST00000402686.3_Silent_p.P398P|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000372228.3_Silent_p.P420P|POMT1_ENST00000541219.1_Silent_p.P176P|POMT1_ENST00000404875.2_Silent_p.P281P	p.P398P	NM_001136113.1	NP_001129585.1	WXS	Illumina GAIIx	Phase_I	Q9Y6A1	POMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)	13	1636	+		Myeloproliferative disorder(178;0.204)	420			MIR 2.		B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Silent	SNP	ENST00000372228.3	37	c.1194C>A	CCDS6943.1																																																																																				0.502	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054737.1	NM_007171		6	109	6	109	---	---	---	---
LCN12	286256	broad.mit.edu	37	9	139847376	139847376	+	Silent	SNP	G	G	T	rs372243693		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:139847376G>T	ENST00000371633.3	+	2	147	c.147G>T	c.(145-147)gcG>gcT	p.A49A		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	49					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGGCCTGGCGGGCAACAGCT	0.647																																						ENST00000371633.3																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(145-147)gcG>gcT		lipocalin 12							106.0	120.0	115.0					9																	139847376		2101	4211	6312	SO:0001819	synonymous_variant	286256				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139847376G>T	BC041168	CCDS7018.2	9q34	2011-10-24	2007-12-18		ENSG00000184925	ENSG00000184925		"""Lipocalins"""	28733	protein-coding gene	gene with protein product		612905				15363845	Standard	XM_005266068		Approved	MGC48935	uc004ckb.3	Q6JVE5	OTTHUMG00000020968	ENST00000371633.3:c.147G>T	9.37:g.139847376G>T			Somatic					p.A49A	NM_178536.3	NP_848631.2	WXS	Illumina GAIIx	Phase_I	Q6JVE5	LCN12_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	2	147	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	49					A2AMJ7	Silent	SNP	ENST00000371633.3	37	c.147G>T	CCDS7018.2																																																																																				0.647	LCN12-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257990.1	NM_178536		6	211	6	211	---	---	---	---
AKR1C1	1645	broad.mit.edu	37	10	5014886	5014886	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:5014886G>T	ENST00000380872.4	+	7	983	c.791G>T	c.(790-792)gGg>gTg	p.G264V	AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2	Q04828	AK1C1_HUMAN	aldo-keto reductase family 1, member C1	264					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|cholesterol homeostasis (GO:0042632)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|intestinal cholesterol absorption (GO:0030299)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|progesterone metabolic process (GO:0042448)|protein homooligomerization (GO:0051260)|response to organophosphorus (GO:0046683)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase (B-specific) activity (GO:0047042)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|indanol dehydrogenase activity (GO:0047718)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)	p.G264V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13					Acetylsalicylic acid(DB00945)|Salicylic acid(DB00936)	CTACAGCGTGGGGTTGTGGTC	0.602																																					Colon(130;2054 2316 13360 15380)	ENST00000380872.4																			1	Substitution - Missense(1)	p.G264V(1)	central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						c.(790-792)gGg>gTg		aldo-keto reductase family 1, member C1							97.0	88.0	91.0					10																	5014886		2202	4298	6500	SO:0001583	missense	1645							g.chr10:5014886G>T	D26124	CCDS7061.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000187134	ENSG00000187134	1.3.1.20, 1.1.1.149, 1.1.1.112	"""Aldo-keto reductases"""	384	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase"""	600449	"""aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase)"""	DDH1		8011662	Standard	NM_001353		Approved	DDH, MBAB, DD1, HAKRC		Q04828	OTTHUMG00000017580	ENST00000380872.4:c.791G>T	10.37:g.5014886G>T	ENSP00000370254:p.Gly264Val		Somatic				AKR1C1_ENST00000434459.2_Missense_Mutation_p.G264V|AKR1C1_ENST00000477661.1_3'UTR	p.G264V	NM_001353.5	NP_001344.2	WXS	Illumina GAIIx	Phase_I					7	983	+								P52896|Q5SR15|Q7M4N2|Q9UCX2	Missense_Mutation	SNP	ENST00000380872.4	37	c.791G>T	CCDS7061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.602037|1.602037	0.28534|0.28534	.|.	.|.	ENSG00000187134|ENSG00000187134	ENST00000434459;ENST00000380872|ENST00000442997	T;T|T	0.57273|0.57273	0.41;0.41|0.41	1.97|1.97	1.05|1.05	0.20165|0.20165	NADP-dependent oxidoreductase domain (3);|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000012|0.000012	T|T	0.71846|0.71846	0.3388|0.3388	H|H	0.94771|0.94771	3.58|3.58	0.58432|0.58432	D|D	0.999998|0.999998	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|T	0.72191|0.72191	-0.4365|-0.4365	10|8	0.87932|0.87932	D|D	0|0	.|.	6.5418|6.5418	0.22385|0.22385	0.1637:0.0:0.8363:0.0|0.1637:0.0:0.8363:0.0	.|.	264|.	Q04828|.	AK1C1_HUMAN|.	V|W	264|231	ENSP00000412248:G264V;ENSP00000370254:G264V|ENSP00000416415:G231W	ENSP00000370254:G264V|ENSP00000416415:G231W	G|G	+|+	2|1	0|0	AKR1C1|AKR1C1	5004886|5004886	1.000000|1.000000	0.71417|0.71417	0.006000|0.006000	0.13384|0.13384	0.487000|0.487000	0.33371|0.33371	5.248000|5.248000	0.65421|0.65421	0.395000|0.395000	0.25257|0.25257	0.305000|0.305000	0.20034|0.20034	GGG|GGG		0.602	AKR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046523.2	NM_001353		6	95	6	95	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17151726	17151726	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:17151726C>A	ENST00000377833.4	-	10	1089	c.1024G>T	c.(1024-1026)Ggt>Tgt	p.G342C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	342	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCCGTCACCCTGGTACCCT	0.478																																						ENST00000377833.4																			0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(1024-1026)Ggt>Tgt		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						143.0	103.0	117.0					10																	17151726		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17151726C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1024G>T	10.37:g.17151726C>A	ENSP00000367064:p.Gly342Cys		Somatic					p.G342C	NM_001081.3	NP_001072.2	WXS	Illumina GAIIx	Phase_I	O60494	CUBN_HUMAN			10	1089	-			342			EGF-like 4; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1024G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167064	0.78339	.	.	ENSG00000107611	ENST00000377833	D	0.92149	-2.98	5.64	5.64	0.86602	Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.45867	D	0.000323	D	0.97723	0.9253	H	0.97265	3.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98667	1.0686	10	0.87932	D	0	.	18.2428	0.89973	0.0:1.0:0.0:0.0	.	342	O60494	CUBN_HUMAN	C	342	ENSP00000367064:G342C	ENSP00000367064:G342C	G	-	1	0	CUBN	17191732	1.000000	0.71417	0.994000	0.49952	0.586000	0.36452	6.890000	0.75633	2.822000	0.97130	0.557000	0.71058	GGT		0.478	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		5	91	5	91	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18276493	18276493	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:18276493G>T	ENST00000377369.2	+	7	1455	c.1182G>T	c.(1180-1182)gaG>gaT	p.E394D	SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	394					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ATAGCTGTGAGGAGAACTACA	0.547																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1180-1182)gaG>gaT		solute carrier family 39 (zinc transporter), member 12							169.0	138.0	148.0					10																	18276493		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276493G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1182G>T	10.37:g.18276493G>T	ENSP00000366586:p.Glu394Asp		Somatic				SLC39A12_ENST00000377371.3_Missense_Mutation_p.E394D|SLC39A12_ENST00000377374.4_Missense_Mutation_p.E394D|SLC39A12_ENST00000539911.1_Missense_Mutation_p.E260D	p.E394D	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	WXS	Illumina GAIIx	Phase_I	Q504Y0	S39AC_HUMAN			7	1455	+			394					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1182G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407636	0.62399	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.73	2.75	0.32379	.	0.709761	0.14608	N	0.309210	T	0.31979	0.0814	L	0.27053	0.805	0.44030	D	0.996757	P;B;P	0.40834	0.604;0.259;0.73	B;B;B	0.41988	0.372;0.307;0.372	T	0.03875	-1.0996	10	0.25751	T	0.34	-6.1197	4.8082	0.13329	0.2781:0.0:0.5716:0.1503	.	394;394;394	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	D	394;394;394;260;314	ENSP00000366586:E394D;ENSP00000366591:E394D;ENSP00000366588:E394D;ENSP00000440445:E260D	ENSP00000366586:E394D	E	+	3	2	SLC39A12	18316499	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	1.735000	0.38176	0.794000	0.33899	0.655000	0.94253	GAG		0.547	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		8	122	8	122	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887349	25887349	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:25887349C>A	ENST00000376351.3	+	11	3153	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	932					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACTAAATCCCAGAAACCTTT	0.443																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(2794-2796)Cag>Aag		G protein-coupled receptor 158							123.0	137.0	133.0					10																	25887349		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887349C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.2794C>A	10.37:g.25887349C>A	ENSP00000365529:p.Gln932Lys		Somatic				GPR158_ENST00000490549.1_3'UTR	p.Q932K	NM_020752.2	NP_065803.2	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			11	3153	+			932					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.2794C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315671	0.40996	.	.	ENSG00000151025	ENST00000376351	T	0.28895	1.59	5.52	5.52	0.82312	.	0.191135	0.36854	N	0.002362	T	0.31389	0.0795	L	0.54323	1.7	0.40460	D	0.980231	B	0.13145	0.007	B	0.14023	0.01	T	0.20075	-1.0286	10	0.10902	T	0.67	.	19.4412	0.94821	0.0:1.0:0.0:0.0	.	932	Q5T848	GP158_HUMAN	K	932	ENSP00000365529:Q932K	ENSP00000365529:Q932K	Q	+	1	0	GPR158	25927355	1.000000	0.71417	0.993000	0.49108	0.935000	0.57460	5.677000	0.68142	2.583000	0.87209	0.650000	0.86243	CAG		0.443	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		7	214	7	214	---	---	---	---
ACBD5	91452	broad.mit.edu	37	10	27499963	27499963	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:27499963C>A	ENST00000375888.1	-	9	1075	c.1011G>T	c.(1009-1011)ttG>ttT	p.L337F	ACBD5_ENST00000396271.3_Missense_Mutation_p.L328F|ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	337					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)	p.L328F(1)|p.L293F(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AATGACCACCCAAGTAATACT	0.388																																						ENST00000396271.3																			2	Substitution - Missense(2)	p.L328F(1)|p.L293F(1)	lung(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(982-984)ttG>ttT		acyl-CoA binding domain containing 5							107.0	103.0	104.0					10																	27499963		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27499963C>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1011G>T	10.37:g.27499963C>A	ENSP00000365049:p.Leu337Phe		Somatic				ACBD5_ENST00000375905.4_Missense_Mutation_p.L293F|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.L337F|ACBD5_ENST00000375901.1_Missense_Mutation_p.L219F|ACBD5_ENST00000375897.3_Missense_Mutation_p.L151F	p.L328F	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	WXS	Illumina GAIIx	Phase_I	Q5T8D3	ACBD5_HUMAN			9	1110	-			337					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.984G>T		.	.	.	.	.	.	.	.	.	.	C	14.00	2.403558	0.42613	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.34072	2.4;2.16;1.41;1.38;2.4	5.28	4.37	0.52481	.	0.198651	0.32785	N	0.005648	T	0.53174	0.1780	M	0.70595	2.14	0.32064	N	0.595242	P;D;P;P	0.65815	0.953;0.995;0.868;0.922	P;D;P;P	0.65874	0.89;0.939;0.653;0.653	T	0.62807	-0.6776	10	0.49607	T	0.09	-4.7399	8.7459	0.34587	0.0:0.8252:0.0:0.1748	.	328;151;326;337	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	F	334;328;293;219;151;337	ENSP00000379568:L328F;ENSP00000365070:L293F;ENSP00000365066:L219F;ENSP00000365062:L151F;ENSP00000365049:L337F	ENSP00000365049:L337F	L	-	3	2	ACBD5	27539969	0.997000	0.39634	0.198000	0.23420	0.263000	0.26337	2.391000	0.44424	1.189000	0.43028	0.561000	0.74099	TTG		0.388	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	100	5	100	---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70191661	70191661	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:70191661C>A	ENST00000358410.3	-	13	1991	c.1941G>T	c.(1939-1941)gtG>gtT	p.V647V	DNA2_ENST00000399180.2_Silent_p.V733V|DNA2_ENST00000399179.2_Silent_p.V647V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	647	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCATACCCACGATGAGTG	0.363																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(2197-2199)gtG>gtT		DNA replication helicase/nuclease 2							195.0	181.0	185.0					10																	70191661		1845	4100	5945	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70191661C>A	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1941G>T	10.37:g.70191661C>A			Somatic				DNA2_ENST00000358410.3_Silent_p.V647V|DNA2_ENST00000399179.2_Silent_p.V647V	p.V733V			WXS	Illumina GAIIx	Phase_I	P51530	DNA2L_HUMAN			13	2198	-			647					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.2199G>T																																																																																					0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			8	279	8	279	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81051939	81051939	+	Silent	SNP	C	C	A	rs78587165		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:81051939C>A	ENST00000334512.5	+	11	1355	c.783C>A	c.(781-783)ccC>ccA	p.P261P	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	261					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTAACGCCCCCGCAGGCATGG	0.662																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(781-783)ccC>ccA		zinc finger, MIZ-type containing 1							91.0	103.0	99.0					10																	81051939		2203	4300	6503	SO:0001819	synonymous_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81051939C>A	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.783C>A	10.37:g.81051939C>A			Somatic				ZMIZ1_ENST00000478357.1_3'UTR	p.P261P	NM_020338.3	NP_065071.1	WXS	Illumina GAIIx	Phase_I	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		11	1355	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		261					Q5JSH9|Q7Z7E6	Silent	SNP	ENST00000334512.5	37	c.783C>A	CCDS7357.1																																																																																				0.662	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		5	186	5	186	---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88769144	88769144	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:88769144C>A	ENST00000444431.1	+	0	3744				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										CCGCCTTTCCCGTGTGCGATC	0.527																																						ENST00000444431.1																			0													ankyrin repeat and GTPase domain Arf GTPase activating protein 11							155.0	175.0	168.0					10																	88769144		2203	4300	6503			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88769144C>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88769144C>A			Somatic				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA				WXS	Illumina GAIIx	Phase_I	Q8TF27	AGA11_HUMAN			0	3744	+								B9EIP7|D3DWE4	RNA	SNP	ENST00000444431.1	37																																																																																						0.527	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		6	342	6	342	---	---	---	---
HTR7	3363	broad.mit.edu	37	10	92508800	92508800	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:92508800C>A	ENST00000336152.3	-	2	1117	c.1091G>T	c.(1090-1092)tGg>tTg	p.W364L	HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000371721.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	364					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCTCTCCACCCACAGTGGGAT	0.532																																						ENST00000371721.3																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1090-1092)tGg>tTg		5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						104.0	103.0	103.0					10																	92508800		2203	4300	6503	SO:0001583	missense	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92508800C>A	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1091G>T	10.37:g.92508800C>A	ENSP00000337949:p.Trp364Leu		Somatic				HTR7_ENST00000277874.6_Missense_Mutation_p.W364L|HTR7_ENST00000336152.3_Missense_Mutation_p.W364L|HTR7_ENST00000371719.2_Missense_Mutation_p.W364L	p.W364L			WXS	Illumina GAIIx	Phase_I	P34969	5HT7R_HUMAN			2	1333	-			364					B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	c.1091G>T	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584380	0.28268	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.45	5.45	0.79879	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	N	0.11284	0.12	0.80722	D	1	B;B	0.17038	0.02;0.016	B;B	0.23018	0.043;0.011	T	0.05162	-1.0902	10	0.27785	T	0.31	.	19.2713	0.94011	0.0:1.0:0.0:0.0	.	364;364	P34969;P34969-2	5HT7R_HUMAN;.	L	364	ENSP00000337949:W364L;ENSP00000277874:W364L;ENSP00000360784:W364L;ENSP00000360786:W364L	ENSP00000277874:W364L	W	-	2	0	HTR7	92498780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.546000	0.85860	0.650000	0.86243	TGG		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872		6	110	6	110	---	---	---	---
BTAF1	9044	broad.mit.edu	37	10	93741458	93741458	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:93741458C>A	ENST00000265990.6	+	16	2122	c.1814C>A	c.(1813-1815)cCa>cAa	p.P605Q	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	605					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCTGCTTGCCCATGGATGGGT	0.423																																						ENST00000265990.6																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(1813-1815)cCa>cAa		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							153.0	151.0	152.0					10																	93741458		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93741458C>A	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.1814C>A	10.37:g.93741458C>A	ENSP00000265990:p.Pro605Gln		Somatic				BTAF1_ENST00000471217.1_3'UTR	p.P605Q	NM_003972.2	NP_003963.1	WXS	Illumina GAIIx	Phase_I	O14981	BTAF1_HUMAN			16	2122	+		Colorectal(252;0.0846)	605					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.1814C>A	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	C	33	5.213755	0.95069	.	.	ENSG00000095564	ENST00000265990	D	0.90261	-2.64	5.89	5.89	0.94794	Domain of unknown function DUF3535 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.95661	0.8589	M	0.82193	2.58	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.985	D	0.94094	0.7356	10	0.35671	T	0.21	-5.207	20.2625	0.98452	0.0:1.0:0.0:0.0	.	605;605	Q2M1V9;O14981	.;BTAF1_HUMAN	Q	605	ENSP00000265990:P605Q	ENSP00000265990:P605Q	P	+	2	0	BTAF1	93731438	1.000000	0.71417	0.893000	0.35052	0.989000	0.77384	7.818000	0.86416	2.782000	0.95742	0.557000	0.71058	CCA		0.423	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	NM_003972		6	175	6	175	---	---	---	---
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95658490C>A	ENST00000427197.1	+	2	402	c.341C>A	c.(340-342)cCt>cAt	p.P114H	SLC35G1_ENST00000371408.3_Missense_Mutation_p.P113H	NM_001134658.1|NM_153226.2	NP_001128130.1|NP_694958.1	Q2M3R5	S35G1_HUMAN	solute carrier family 35, member G1	114	EamA 1.				calcium ion export from cell (GO:1990034)|cytosolic calcium ion homeostasis (GO:0051480)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GTTGTTATCCCTTGCTTAATA	0.338																																						ENST00000371408.3																			0											c.(337-339)cCt>cAt		solute carrier family 35, member G1							146.0	143.0	144.0					10																	95658490		2203	4300	6503	SO:0001583	missense	159371					integral to membrane		g.chr10:95658490C>A	AK091309	CCDS7432.1, CCDS44459.1	10q23.33	2013-05-22	2011-08-03	2011-08-03	ENSG00000176273	ENSG00000176273		"""Solute carriers"""	26607	protein-coding gene	gene with protein product			"""transmembrane protein 20"""	TMEM20		21569384	Standard	NM_153226		Approved	FLJ33990, C10orf60	uc001kjg.2	Q2M3R5	OTTHUMG00000018779	ENST00000427197.1:c.341C>A	10.37:g.95658490C>A	ENSP00000400932:p.Pro114His		Somatic				SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H	p.P113H			WXS	Illumina GAIIx	Phase_I	Q2M3R5	TMM20_HUMAN			2	399	+			114			DUF6 1.		Q86YG5|Q8NBA5	Missense_Mutation	SNP	ENST00000427197.1	37	c.338C>A	CCDS44459.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239643	0.79800	.	.	ENSG00000176273	ENST00000371408;ENST00000427197	T;T	0.52983	0.64;0.64	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.87381	2.88	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.995	D;D;D	0.97110	1.0;0.982;0.974	T	0.67979	-0.5530	10	0.15499	T	0.54	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	97;114;113	B7ZKP0;Q2M3R5;Q2M3R5-2	.;S35G1_HUMAN;.	H	113;114	ENSP00000360462:P113H;ENSP00000400932:P114H	ENSP00000360462:P113H	P	+	2	0	SLC35G1	95648480	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.008000	0.76341	2.861000	0.98227	0.655000	0.94253	CCT		0.338	SLC35G1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_153226		5	69	5	69	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95987160	95987160	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:95987160G>T	ENST00000371380.3	+	4	2142	c.1907G>T	c.(1906-1908)tGg>tTg	p.W636L	PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|RP11-391J2.3_ENST00000447227.1_RNA|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	636	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAATGCTGCTGGAACATGGGC	0.517																																						ENST00000371380.3																			0				liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8						c.(1906-1908)tGg>tTg		phospholipase C, epsilon 1							166.0	175.0	172.0					10																	95987160		2105	4230	6335	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95987160G>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1907G>T	10.37:g.95987160G>T	ENSP00000360431:p.Trp636Leu		Somatic				PLCE1_ENST00000371385.3_Missense_Mutation_p.W328L|PLCE1_ENST00000260766.3_Missense_Mutation_p.W636L|PLCE1_ENST00000371375.1_Missense_Mutation_p.W328L	p.W636L			WXS	Illumina GAIIx	Phase_I	Q9P212	PLCE1_HUMAN			4	2142	+		Colorectal(252;0.0458)				Ras-GEF.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1907G>T	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307492	0.95629	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	5.72	5.72	0.89469	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.140197	0.51477	D	0.000087	T	0.53029	0.1771	M	0.71036	2.16	0.58432	D	0.999998	D;P;D	0.71674	0.982;0.94;0.998	P;P;D	0.70227	0.855;0.695;0.968	T	0.53330	-0.8454	10	0.87932	D	0	.	19.8835	0.96906	0.0:0.0:1.0:0.0	.	636;328;636	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	L	636;636;328;328	ENSP00000260766:W636L;ENSP00000360431:W636L;ENSP00000360438:W328L;ENSP00000360426:W328L	ENSP00000260766:W636L	W	+	2	0	PLCE1	95977150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.434000	0.97515	2.705000	0.92388	0.555000	0.69702	TGG		0.517	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		6	178	6	178	---	---	---	---
PYROXD2	84795	broad.mit.edu	37	10	100154987	100154987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:100154987C>A	ENST00000370575.4	-	8	799	c.751G>T	c.(751-753)Gga>Tga	p.G251*	MIR1287_ENST00000408492.1_RNA|PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	251							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GTCATGGCTCCAATCACTGCA	0.572																																						ENST00000370575.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(751-753)Gga>Tga		pyridine nucleotide-disulphide oxidoreductase domain 2							121.0	118.0	119.0					10																	100154987		2203	4300	6503	SO:0001587	stop_gained	84795						oxidoreductase activity	g.chr10:100154987C>A	AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.751G>T	10.37:g.100154987C>A	ENSP00000359607:p.Gly251*		Somatic				PYROXD2_ENST00000483923.1_5'UTR|MIR1287_ENST00000408492.1_RNA	p.G251*	NM_032709.2	NP_116098.2	WXS	Illumina GAIIx	Phase_I	Q8N2H3	PYRD2_HUMAN			8	799	-			251					D3DR61|Q5TAA9|Q9BRQ1	Nonsense_Mutation	SNP	ENST00000370575.4	37	c.751G>T	CCDS7474.1	.	.	.	.	.	.	.	.	.	.	C	37	6.290610	0.97444	.	.	ENSG00000119943	ENST00000370575	.	.	.	5.34	5.34	0.76211	.	0.049871	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.2278	16.8607	0.86017	0.0:1.0:0.0:0.0	.	.	.	.	X	251	.	ENSP00000359607:G251X	G	-	1	0	PYROXD2	100144977	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.379000	0.79691	2.492000	0.84095	0.655000	0.94253	GGA		0.572	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049782.2	NM_032709		6	184	6	184	---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115609163	115609163	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:115609163G>T	ENST00000361384.2	-	2	2618	c.1701C>A	c.(1699-1701)ccC>ccA	p.P567P	DCLRE1A_ENST00000369305.1_Silent_p.P567P	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	567	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CCTTTCTTTTGGGAGGTAGTC	0.383								Other identified genes with known or suspected DNA repair function																														ENST00000361384.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31						c.(1699-1701)ccC>ccA	Other identified genes with known or suspected DNA repair function	DNA cross-link repair 1A							153.0	152.0	152.0					10																	115609163		2203	4300	6503	SO:0001819	synonymous_variant	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115609163G>T		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1701C>A	10.37:g.115609163G>T			Somatic				DCLRE1A_ENST00000369305.1_Silent_p.P567P	p.P567P	NM_014881.3	NP_055696.3	WXS	Illumina GAIIx	Phase_I	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	2	2618	-			567			Nuclear focus formation.		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	ENST00000361384.2	37	c.1701C>A	CCDS7584.1																																																																																				0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		6	150	6	150	---	---	---	---
DMBT1	1755	broad.mit.edu	37	10	124330412	124330412	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:124330412C>A	ENST00000338354.3	+	4	252	c.146C>A	c.(145-147)cCa>cAa	p.P49Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	49					defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAGGTTCTCCATTTCCCTCG	0.552																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000338354.3																			0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(145-147)cCa>cAa		deleted in malignant brain tumors 1							172.0	173.0	173.0					10																	124330412		1901	4121	6022	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124330412C>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.146C>A	10.37:g.124330412C>A	ENSP00000342210:p.Pro49Gln		Somatic				DMBT1_ENST00000359586.6_Missense_Mutation_p.P49Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000368909.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000344338.3_Missense_Mutation_p.P49Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.P49Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.P49Q	p.P49Q			WXS	Illumina GAIIx	Phase_I	Q9UGM3	DMBT1_HUMAN			4	252	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	49					A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.146C>A		.	.	.	.	.	.	.	.	.	.	C	7.894	0.733038	0.15507	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.23552	2.1;2.08;1.9;2.1;2.08;1.9;1.94	1.9	-1.14	0.09741	.	.	.	.	.	T	0.15739	0.0379	N	0.14661	0.345	0.09310	N	1	P;P;B;D;B	0.60575	0.921;0.941;0.171;0.988;0.084	B;P;B;P;B	0.52646	0.33;0.61;0.017;0.705;0.036	T	0.12426	-1.0548	9	0.14252	T	0.57	.	2.4853	0.04597	0.0:0.1886:0.2914:0.52	.	49;49;49;49;49	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	Q	49	ENSP00000342210:P49Q;ENSP00000343175:P49Q;ENSP00000327747:P49Q;ENSP00000357905:P49Q;ENSP00000357951:P49Q;ENSP00000357952:P49Q;ENSP00000352593:P49Q	ENSP00000331522:P49Q	P	+	2	0	DMBT1	124320402	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.145000	0.16157	-0.207000	0.10187	-1.021000	0.02439	CCA		0.552	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406		7	195	7	195	---	---	---	---
FAM175B	23172	broad.mit.edu	37	10	126490444	126490444	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:126490444C>A	ENST00000298492.5	+	1	91	c.46C>A	c.(46-48)Cac>Aac	p.H16N		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	16	MPN-like.				cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						TGTGTGTTTCCACAGCGCCAA	0.677																																						ENST00000298492.5																			0				NS(1)	1						c.(46-48)Cac>Aac		family with sequence similarity 175, member B							87.0	95.0	93.0					10																	126490444		1949	4141	6090	SO:0001583	missense	23172					BRISC complex	polyubiquitin binding	g.chr10:126490444C>A	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.46C>A	10.37:g.126490444C>A	ENSP00000298492:p.His16Asn		Somatic					p.H16N	NM_032182.3	NP_115558.3	WXS	Illumina GAIIx	Phase_I	Q15018	F175B_HUMAN			1	91	+			16			MPN-like.		B4DKR2|Q96H11	Missense_Mutation	SNP	ENST00000298492.5	37	c.46C>A	CCDS31308.2	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517484	0.64634	.	.	ENSG00000165660	ENST00000298492	T	0.42900	0.96	4.51	4.51	0.55191	.	0.139668	0.47852	D	0.000219	T	0.33760	0.0874	L	0.50333	1.59	0.46749	D	0.999186	B	0.34015	0.435	B	0.31751	0.135	T	0.07809	-1.0753	10	0.21540	T	0.41	-20.5723	10.7366	0.46128	0.0:0.907:0.0:0.093	.	16	Q15018	F175B_HUMAN	N	16	ENSP00000298492:H16N	ENSP00000298492:H16N	H	+	1	0	FAM175B	126480434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.689000	0.61723	2.481000	0.83766	0.563000	0.77884	CAC		0.677	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		6	150	6	150	---	---	---	---
PTPRE	5791	broad.mit.edu	37	10	129867974	129867974	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:129867974G>T	ENST00000254667.3	+	13	1305	c.1026G>T	c.(1024-1026)acG>acT	p.T342T	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	342	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TGGGCCGGACGGGCACCTTCA	0.577											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1024-1026)acG>acT		protein tyrosine phosphatase, receptor type, E							190.0	175.0	180.0					10																	129867974		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129867974G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1026G>T	10.37:g.129867974G>T			Somatic	OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1575	PTPRE_ENST00000306042.5_Silent_p.T284T|PTPRE_ENST00000419012.2_Silent_p.T342T	p.T342T	NM_006504.4	NP_006495.1	WXS	Illumina GAIIx	Phase_I	P23469	PTPRE_HUMAN			13	1305	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	342			Tyrosine-protein phosphatase 1.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.1026G>T	CCDS7657.1																																																																																				0.577	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			6	217	6	217	---	---	---	---
C10orf91	170393	broad.mit.edu	37	10	134261403	134261403	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr10:134261403C>A	ENST00000392630.3	+	3	337	c.276C>A	c.(274-276)tcC>tcA	p.S92S	C10orf91_ENST00000321248.2_Silent_p.S92S|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	92										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		CCCCTGCCTCCGGGCGCCCGC	0.667																																						ENST00000392630.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(2)	5						c.(274-276)tcC>tcA		chromosome 10 open reading frame 91							77.0	90.0	86.0					10																	134261403		2203	4300	6503	SO:0001819	synonymous_variant	170393							g.chr10:134261403C>A	BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.276C>A	10.37:g.134261403C>A			Somatic				C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Silent_p.S92S	p.S92S	NM_173541.2	NP_775812.1	WXS	Illumina GAIIx	Phase_I	Q5T1B1	CJ091_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)	3	337	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	92					Q8N0T7	Silent	SNP	ENST00000392630.3	37	c.276C>A	CCDS7668.1																																																																																				0.667	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541		6	220	6	220	---	---	---	---
LRRC56	115399	broad.mit.edu	37	11	550100	550100	+	Nonsense_Mutation	SNP	C	C	A	rs560844721		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:550100C>A	ENST00000270115.7	+	8	952	c.452C>A	c.(451-453)tCg>tAg	p.S151*		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	151										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AACAACATCTCGGACCTGAGC	0.667																																						ENST00000270115.7																			0				kidney(1)|lung(4)|skin(1)	6						c.(451-453)tCg>tAg		leucine rich repeat containing 56							107.0	103.0	104.0					11																	550100		2203	4300	6503	SO:0001587	stop_gained	115399							g.chr11:550100C>A		CCDS7700.1	11p15.5	2005-10-18			ENSG00000161328	ENSG00000161328			25430	protein-coding gene	gene with protein product						12477932	Standard	NM_198075		Approved	FLJ00101, DKFZp761L1518	uc010qvz.2	Q8IYG6	OTTHUMG00000132003	ENST00000270115.7:c.452C>A	11.37:g.550100C>A	ENSP00000270115:p.Ser151*		Somatic					p.S151*	NM_198075.3	NP_932341.1	WXS	Illumina GAIIx	Phase_I	Q8IYG6	LRC56_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	952	+		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	151					Q8N3Q4	Nonsense_Mutation	SNP	ENST00000270115.7	37	c.452C>A	CCDS7700.1	.	.	.	.	.	.	.	.	.	.	C	41	8.598853	0.98879	.	.	ENSG00000161328	ENST00000270115	.	.	.	5.1	5.1	0.69264	.	0.070036	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.1544	15.9872	0.80168	0.0:1.0:0.0:0.0	.	.	.	.	X	151	.	ENSP00000270115:S151X	S	+	2	0	LRRC56	540100	0.342000	0.24809	0.936000	0.37596	0.820000	0.46376	2.123000	0.41996	2.373000	0.80994	0.491000	0.48974	TCG		0.667	LRRC56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254969.1	NM_198075		5	87	5	87	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1255481	1255481	+	Silent	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000529681.1	+	20	2482	c.2424G>A	c.(2422-2424)gcG>gcA	p.A808A	MUC5B_ENST00000447027.1_Silent_p.A811A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(2431-2433)gcG>gcA		mucin 5B, oligomeric mucus/gel-forming							13.0	16.0	15.0					11																	1255481		1957	4121	6078	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1255481G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.2424G>A	11.37:g.1255481G>A			Somatic				MUC5B_ENST00000529681.1_Silent_p.A808A	p.A811A			WXS	Illumina GAIIx	Phase_I	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	20	2491	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	808	P -> L (in Ref. 2; AAC67545).		TIL 3.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.2433G>A	CCDS44515.2																																																																																				0.692	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		6	16	6	16	---	---	---	---
SBF2	81846	broad.mit.edu	37	11	9868556	9868556	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:9868556G>T	ENST00000256190.8	-	23	3018	c.2881C>A	c.(2881-2883)Cag>Aag	p.Q961K	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	961					cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TGCTGTAGCTGGTTCTGCATT	0.413																																						ENST00000256190.8																			0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(2881-2883)Cag>Aag		SET binding factor 2							234.0	200.0	211.0					11																	9868556		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9868556G>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.2881C>A	11.37:g.9868556G>T	ENSP00000256190:p.Gln961Lys		Somatic				RP11-1H15.2_ENST00000533659.1_RNA	p.Q961K	NM_030962.3	NP_112224.1	WXS	Illumina GAIIx	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	23	3018	-			961					Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.2881C>A	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.922209	0.73213	.	.	ENSG00000133812	ENST00000256190	D	0.81579	-1.51	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	L	0.55481	1.735	0.80722	D	1	P	0.37864	0.61	B	0.36186	0.219	T	0.77520	-0.2557	10	0.40728	T	0.16	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	961	Q86WG5	MTMRD_HUMAN	K	961	ENSP00000256190:Q961K	ENSP00000256190:Q961K	Q	-	1	0	SBF2	9825132	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CAG		0.413	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962		7	179	7	179	---	---	---	---
F2	2147	broad.mit.edu	37	11	46750354	46750354	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:46750354C>A	ENST00000311907.5	+	11	1495	c.1439C>A	c.(1438-1440)cCt>cAt	p.P480H	F2_ENST00000530231.1_Intron	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	480	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	TACATTCACCCTGTGTGTCTG	0.577																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)	ENST00000311907.5																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27						c.(1438-1440)cCt>cAt		coagulation factor II (thrombin)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)						105.0	93.0	97.0					11																	46750354		2201	4299	6500	SO:0001583	missense	2147				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	g.chr11:46750354C>A	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1439C>A	11.37:g.46750354C>A	ENSP00000308541:p.Pro480His		Somatic				F2_ENST00000530231.1_Intron	p.P480H	NM_000506.3	NP_000497.1	WXS	Illumina GAIIx	Phase_I	P00734	THRB_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.146)	11	1495	+		all_lung(304;0.000414)|Lung NSC(402;0.0011)	480			Peptidase S1.		B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	c.1439C>A	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802821	0.90623	.	.	ENSG00000180210	ENST00000311907	D	0.95788	-3.81	5.97	5.97	0.96955	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.98614	0.9536	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98971	1.0801	10	0.87932	D	0	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	480	P00734	THRB_HUMAN	H	480	ENSP00000308541:P480H	ENSP00000308541:P480H	P	+	2	0	F2	46706930	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	7.703000	0.84585	2.828000	0.97474	0.655000	0.94253	CCT		0.577	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			6	109	6	109	---	---	---	---
OR4D6	219983	broad.mit.edu	37	11	59225298	59225298	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59225298C>A	ENST00000300127.2	+	1	888	c.865C>A	c.(865-867)Ctg>Atg	p.L289M		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CATCTATTCCCTGAGAAATCA	0.512																																						ENST00000300127.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						c.(865-867)Ctg>Atg		olfactory receptor, family 4, subfamily D, member 6							108.0	110.0	109.0					11																	59225298		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225298C>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.865C>A	11.37:g.59225298C>A	ENSP00000300127:p.Leu289Met		Somatic					p.L289M	NM_001004708.1	NP_001004708.1	WXS	Illumina GAIIx	Phase_I	Q8NGJ1	OR4D6_HUMAN			1	888	+			289					B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.865C>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274472	0.40194	.	.	ENSG00000166884	ENST00000300127	T	0.48836	0.8	6.01	5.1	0.69264	.	0.000000	0.42294	D	0.000735	T	0.61400	0.2344	M	0.64260	1.97	0.35589	D	0.806912	D	0.65815	0.995	P	0.58721	0.844	T	0.73748	-0.3885	10	0.87932	D	0	-10.1745	14.0595	0.64790	0.0:0.9272:0.0:0.0728	.	289	Q8NGJ1	OR4D6_HUMAN	M	289	ENSP00000300127:L289M	ENSP00000300127:L289M	L	+	1	2	OR4D6	58981874	0.902000	0.30710	0.963000	0.40424	0.003000	0.03518	1.883000	0.39658	1.553000	0.49476	-0.140000	0.14226	CTG		0.512	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		6	157	6	157	---	---	---	---
MRPL16	54948	broad.mit.edu	37	11	59573832	59573832	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:59573832G>T	ENST00000300151.4	-	4	957	c.744C>A	c.(742-744)ccC>ccA	p.P248P		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	248					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						ACACACGTTTGGGCATGTAGA	0.473																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(742-744)ccC>ccA		mitochondrial ribosomal protein L16							192.0	181.0	185.0					11																	59573832		2201	4295	6496	SO:0001819	synonymous_variant	54948						rRNA binding	g.chr11:59573832G>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.744C>A	11.37:g.59573832G>T			Somatic					p.P248P	NM_017840.3	NP_060310.1	WXS	Illumina GAIIx	Phase_I	Q9NX20	RM16_HUMAN			4	957	-			248					Q9BYD0|Q9HB70	Silent	SNP	ENST00000300151.4	37	c.744C>A	CCDS7976.1																																																																																				0.473	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		7	233	7	233	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62295012	62295012	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62295012C>A	ENST00000378024.4	-	5	7151	c.6877G>T	c.(6877-6879)Ggg>Tgg	p.G2293W	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2293					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTCAGCTTCCCTTCTGGACCT	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(6877-6879)Ggg>Tgg		AHNAK nucleoprotein							165.0	172.0	170.0					11																	62295012		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62295012C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6877G>T	11.37:g.62295012C>A	ENSP00000367263:p.Gly2293Trp		Somatic				AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.G2293W	NM_001620.1	NP_001611.1	WXS	Illumina GAIIx	Phase_I	Q09666	AHNK_HUMAN			5	7151	-		Melanoma(852;0.155)	2293					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.6877G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735637	0.49045	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.18960	2.18	3.91	3.91	0.45181	.	0.203139	0.24120	U	0.041379	T	0.55000	0.1893	M	0.90922	3.16	0.26086	N	0.981024	D	0.89917	1.0	D	0.91635	0.999	T	0.57452	-0.7809	10	0.72032	D	0.01	-6.561	15.9788	0.80091	0.0:1.0:0.0:0.0	.	2293	Q09666	AHNK_HUMAN	W	382;2293	ENSP00000367263:G2293W	ENSP00000244934:G382W	G	-	1	0	AHNAK	62051588	0.268000	0.24133	0.023000	0.16930	0.826000	0.46750	4.713000	0.61895	1.897000	0.54924	0.291000	0.19559	GGG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		10	301	10	301	---	---	---	---
SLC22A8	9376	broad.mit.edu	37	11	62782166	62782166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:62782166G>T	ENST00000336232.2	-	2	400	c.265C>A	c.(265-267)Cag>Aag	p.Q89K	SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000545207.1_5'UTR|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	89					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ATGGCCCTCTGGGTGTCATTG	0.597																																						ENST00000336232.2																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						c.(265-267)Cag>Aag		solute carrier family 22 (organic anion transporter), member 8							153.0	154.0	154.0					11																	62782166		2201	4298	6499	SO:0001583	missense	9376				response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity	g.chr11:62782166G>T	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.265C>A	11.37:g.62782166G>T	ENSP00000337335:p.Gln89Lys		Somatic				SLC22A8_ENST00000311438.8_Missense_Mutation_p.Q89K|SLC22A8_ENST00000430500.2_Missense_Mutation_p.Q89K|SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000545207.1_5'UTR	p.Q89K	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	WXS	Illumina GAIIx	Phase_I	Q8TCC7	S22A8_HUMAN			2	400	-			89					B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	ENST00000336232.2	37	c.265C>A	CCDS8042.1	.	.	.	.	.	.	.	.	.	.	G	5.393	0.257782	0.10239	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000311438;ENST00000430500	T;T;T	0.64991	-0.11;-0.13;-0.11	5.14	4.16	0.48862	Major facilitator superfamily domain (1);	0.423029	0.22695	N	0.056768	T	0.51568	0.1682	L	0.50333	1.59	0.31721	N	0.638326	B;B	0.12013	0.005;0.0	B;B	0.16289	0.015;0.012	T	0.49716	-0.8910	10	0.16420	T	0.52	.	10.4289	0.44395	0.1019:0.0:0.8981:0.0	.	89;89	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	K	89;75;89;89	ENSP00000337335:Q89K;ENSP00000311463:Q89K;ENSP00000398548:Q89K	ENSP00000311463:Q89K	Q	-	1	0	SLC22A8	62538742	0.002000	0.14202	1.000000	0.80357	0.828000	0.46876	0.091000	0.15046	2.659000	0.90383	0.655000	0.94253	CAG		0.597	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396191.1	NM_004254		7	195	7	195	---	---	---	---
NAA40	79829	broad.mit.edu	37	11	63721499	63721499	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:63721499C>A	ENST00000377793.4	+	7	651	c.550C>A	c.(550-552)Cag>Aag	p.Q184K	NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K|NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	184	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TGGTGCCTACCAGTTCTTCAG	0.502																																						ENST00000377793.4																			0				NS(1)|endometrium(1)|lung(2)|prostate(1)	5						c.(550-552)Cag>Aag		N(alpha)-acetyltransferase 40, NatD catalytic subunit							173.0	177.0	176.0					11																	63721499		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63721499C>A	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.550C>A	11.37:g.63721499C>A	ENSP00000367024:p.Gln184Lys		Somatic				NAA40_ENST00000542163.1_Missense_Mutation_p.Q163K|NAA40_ENST00000456907.2_Missense_Mutation_p.Q144K|NAA40_ENST00000539656.1_Missense_Mutation_p.Q71K	p.Q184K	NM_024771.2	NP_079047.2	WXS	Illumina GAIIx	Phase_I	Q86UY6	NAA40_HUMAN			7	651	+			184			N-acetyltransferase.		B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.550C>A	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.269871	0.23221	.	.	ENSG00000110583	ENST00000377793;ENST00000456907;ENST00000539656;ENST00000542163	T;T;T	0.19250	2.16;2.16;2.16	5.28	5.28	0.74379	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.11665	0.0284	N	0.04018	-0.295	0.80722	D	1	P;B	0.42757	0.789;0.011	B;B	0.43575	0.424;0.01	T	0.06807	-1.0806	10	0.02654	T	1	-16.0539	17.6823	0.88247	0.0:1.0:0.0:0.0	.	144;184	B4DU10;Q86UY6	.;NAA40_HUMAN	K	184;144;71;163	ENSP00000367024:Q184K;ENSP00000407578:Q144K;ENSP00000442055:Q163K	ENSP00000367024:Q184K	Q	+	1	0	NAA40	63478075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.489000	0.81451	2.474000	0.83562	0.462000	0.41574	CAG		0.502	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		6	191	6	191	---	---	---	---
LTBP3	4054	broad.mit.edu	37	11	65325189	65325189	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65325189C>A	ENST00000301873.5	-	1	510	c.242G>T	c.(241-243)cGg>cTg	p.R81L	LTBP3_ENST00000536982.1_5'UTR|LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	81	Gly-rich.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACAACTGTCCCGACACTGGCC	0.692																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(241-243)cGg>cTg		latent transforming growth factor beta binding protein 3							61.0	51.0	55.0					11																	65325189		2199	4297	6496	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65325189C>A	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.242G>T	11.37:g.65325189C>A	ENSP00000301873:p.Arg81Leu		Somatic				LTBP3_ENST00000322147.4_Missense_Mutation_p.R81L|LTBP3_ENST00000536982.1_5'UTR	p.R81L	NM_001130144.2	NP_001123616.1	WXS	Illumina GAIIx	Phase_I	Q9NS15	LTBP3_HUMAN			1	510	-			81			Gly-rich.		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.242G>T	CCDS44647.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297467	0.60086	.	.	ENSG00000168056	ENST00000322147;ENST00000301873	T;T	0.80566	-1.31;-1.39	4.07	-0.717	0.11208	.	0.677562	0.13902	N	0.354859	T	0.53706	0.1813	N	0.08118	0	0.80722	D	1	B;P	0.42161	0.001;0.772	B;B	0.38712	0.0;0.28	T	0.47045	-0.9147	10	0.38643	T	0.18	.	0.6062	0.00753	0.3307:0.3071:0.1619:0.2002	.	81;81	Q9NS15;Q9NS15-2	LTBP3_HUMAN;.	L	81	ENSP00000326647:R81L;ENSP00000301873:R81L	ENSP00000301873:R81L	R	-	2	0	LTBP3	65081765	0.966000	0.33281	0.946000	0.38457	0.993000	0.82548	0.579000	0.23788	-0.017000	0.14103	0.561000	0.74099	CGG		0.692	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		4	70	4	70	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67051215	67051215	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:67051215C>A	ENST00000308595.5	+	16	1656	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	456	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TTTCCGCTCCCTGGACTGGCA	0.617																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1366-1368)Ctg>Atg		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						77.0	89.0	85.0					11																	67051215		2200	4295	6495	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67051215C>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1366C>A	11.37:g.67051215C>A	ENSP00000312262:p.Leu456Met		Somatic				ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	p.L456M	NM_001619.3	NP_001610.2	WXS	Illumina GAIIx	Phase_I	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		16	1656	+			456			AGC-kinase C-terminal.		B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.1366C>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	C	3.609	-0.079910	0.07141	.	.	ENSG00000173020	ENST00000308595	T	0.54479	0.57	5.62	-0.794	0.10918	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.43110	D	0.000619	T	0.27866	0.0686	N	0.16266	0.395	0.80722	D	1	B	0.22276	0.067	B	0.23419	0.046	T	0.03000	-1.1084	10	0.48119	T	0.1	-4.517	2.281	0.04114	0.1897:0.4693:0.1277:0.2133	.	456	P25098	ARBK1_HUMAN	M	456	ENSP00000312262:L456M	ENSP00000312262:L456M	L	+	1	2	ADRBK1	66807791	0.258000	0.24033	0.794000	0.32065	0.001000	0.01503	0.816000	0.27267	0.060000	0.16281	-1.148000	0.01847	CTG		0.617	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		6	77	6	77	---	---	---	---
FGF3	2248	broad.mit.edu	37	11	69631132	69631132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:69631132C>A	ENST00000334134.2	-	2	370	c.280G>T	c.(280-282)Ggg>Tgg	p.G94W		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	94					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			AGGTACCGCCCGGAGAAGAGA	0.612																																						ENST00000334134.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13						c.(280-282)Ggg>Tgg		fibroblast growth factor 3							160.0	135.0	143.0					11																	69631132		2200	4294	6494	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69631132C>A		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.280G>T	11.37:g.69631132C>A	ENSP00000334122:p.Gly94Trp		Somatic					p.G94W	NM_005247.2	NP_005238.1	WXS	Illumina GAIIx	Phase_I	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		2	370	-			94					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.280G>T	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.182834	0.78677	.	.	ENSG00000186895	ENST00000334134	T	0.70399	-0.48	4.83	4.83	0.62350	.	0.055211	0.64402	D	0.000001	D	0.86727	0.6002	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89063	0.3464	9	.	.	.	.	17.9426	0.89030	0.0:1.0:0.0:0.0	.	94	P11487	FGF3_HUMAN	W	94	ENSP00000334122:G94W	.	G	-	1	0	FGF3	69340069	1.000000	0.71417	0.649000	0.29536	0.993000	0.82548	4.546000	0.60705	2.231000	0.72958	0.555000	0.69702	GGG		0.612	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1	NM_005247		6	119	6	119	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102662178	102662178	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:102662178G>T	ENST00000315274.6	-	8	1149	c.1082C>A	c.(1081-1083)cCc>cAc	p.P361H	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	361					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	GATGTCCTTGGGGTATCCGTG	0.448																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1081-1083)cCc>cAc		matrix metallopeptidase 1 (interstitial collagenase)							250.0	231.0	237.0					11																	102662178		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102662178G>T	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1082C>A	11.37:g.102662178G>T	ENSP00000322788:p.Pro361His		Somatic				WTAPP1_ENST00000525739.2_RNA	p.P361H	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	WXS	Illumina GAIIx	Phase_I	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	8	1149	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	361			Hemopexin-like 2.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1082C>A	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	g	19.47	3.833361	0.71258	.	.	ENSG00000196611	ENST00000315274	T	0.59224	0.28	5.62	4.7	0.59300	Hemopexin/matrixin (2);	0.000000	0.64402	D	0.000010	D	0.84365	0.5456	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90020	0.4127	10	0.87932	D	0	.	14.1056	0.65088	0.0729:0.0:0.9271:0.0	.	361	P03956	MMP1_HUMAN	H	361	ENSP00000322788:P361H	ENSP00000322788:P361H	P	-	2	0	MMP1	102167388	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	6.563000	0.73964	1.498000	0.48600	0.655000	0.94253	CCC		0.448	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		7	259	7	259	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113679043	113679043	+	Missense_Mutation	SNP	C	C	A	rs143699311		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:113679043C>A	ENST00000003302.4	-	18	2349	c.2281G>T	c.(2281-2283)Ggt>Tgt	p.G761C	USP28_ENST00000544967.1_Missense_Mutation_p.G469C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000545540.1_Missense_Mutation_p.G636C	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	761					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.G761S(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCTTCTACACCGCTCTTCTCA	0.522																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	ENST00000003302.4																			1	Substitution - Missense(1)	p.G761S(1)	prostate(1)	breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2281-2283)Ggt>Tgt		ubiquitin specific peptidase 28							171.0	164.0	167.0					11																	113679043		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113679043C>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.2281G>T	11.37:g.113679043C>A	ENSP00000003302:p.Gly761Cys		Somatic				USP28_ENST00000545540.1_Missense_Mutation_p.G636C|USP28_ENST00000260188.5_Missense_Mutation_p.G761C|USP28_ENST00000544967.1_Missense_Mutation_p.G469C	p.G761C	NM_020886.2	NP_065937.1	WXS	Illumina GAIIx	Phase_I	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	18	2349	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	761					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.2281G>T	CCDS31680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.55|17.55	3.417870|3.417870	0.62622|0.62622	.|.	.|.	ENSG00000048028|ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540|ENST00000538224	T;T;T;T|.	0.53206|.	1.42;1.2;0.63;1.22|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.604154|.	0.18840|.	N|.	0.129709|.	T|T	0.71710|0.71710	0.3372|0.3372	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	B;D;D|.	0.89917|.	0.002;1.0;0.997|.	B;D;D|.	0.72075|.	0.003;0.976;0.921|.	T|T	0.67452|0.67452	-0.5667|-0.5667	10|5	0.39692|.	T|.	0.17|.	-11.9395|-11.9395	19.2891|19.2891	0.94092|0.94092	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	636;761;469|.	B4E3L3;Q96RU2;G3V1N5|.	.;UBP28_HUMAN;.|.	C|L	761;761;469;636|77	ENSP00000003302:G761C;ENSP00000260188:G761C;ENSP00000442431:G469C;ENSP00000444991:G636C|.	ENSP00000003302:G761C|.	G|R	-|-	1|2	0|0	USP28|USP28	113184253|113184253	0.996000|0.996000	0.38824|0.38824	0.502000|0.502000	0.27614|0.27614	0.329000|0.329000	0.28539|0.28539	5.473000|5.473000	0.66774|0.66774	2.794000|2.794000	0.96219|0.96219	0.655000|0.655000	0.94253|0.94253	GGT|CGG		0.522	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			5	240	5	240	---	---	---	---
FOXR1	283150	broad.mit.edu	37	11	118851309	118851309	+	Missense_Mutation	SNP	G	G	T	rs556776624		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:118851309G>T	ENST00000317011.3	+	5	946	c.721G>T	c.(721-723)Ggg>Tgg	p.G241W		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	241					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CATGCAGGGCGGGGCCAGCAC	0.612																																						ENST00000317011.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						c.(721-723)Ggg>Tgg		forkhead box R1							70.0	71.0	71.0					11																	118851309		2200	4295	6495	SO:0001583	missense	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	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.chr11:118851309G>T	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.721G>T	11.37:g.118851309G>T	ENSP00000314806:p.Gly241Trp		Somatic					p.G241W	NM_181721.2	NP_859072.1	WXS	Illumina GAIIx	Phase_I	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	946	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	241					B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	ENST00000317011.3	37	c.721G>T	CCDS31688.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.227256	0.39399	.	.	ENSG00000176302	ENST00000317011	D	0.95756	-3.8	5.55	5.55	0.83447	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.509285	0.19493	N	0.112938	D	0.97340	0.9130	M	0.70595	2.14	0.09310	N	1	D	0.67145	0.996	D	0.69824	0.966	D	0.93130	0.6532	10	0.72032	D	0.01	.	17.0099	0.86403	0.0:0.0:1.0:0.0	.	241	Q6PIV2	FOXR1_HUMAN	W	241	ENSP00000314806:G241W	ENSP00000314806:G241W	G	+	1	0	FOXR1	118356519	0.886000	0.30341	0.010000	0.14722	0.133000	0.20885	4.038000	0.57318	2.604000	0.88044	0.650000	0.86243	GGG		0.612	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		5	131	5	131	---	---	---	---
TRIM29	23650	broad.mit.edu	37	11	120008334	120008334	+	Silent	SNP	G	G	T	rs531272292		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:120008334G>T	ENST00000341846.5	-	1	827	c.406C>A	c.(406-408)Cgg>Agg	p.R136R		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	136					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GTGGGCTTCCGGGACTCCGAG	0.657																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(406-408)Cgg>Agg		tripartite motif containing 29							82.0	96.0	91.0					11																	120008334		2203	4300	6503	SO:0001819	synonymous_variant	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008334G>T	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.406C>A	11.37:g.120008334G>T			Somatic					p.R136R	NM_012101.3	NP_036233.2	WXS	Illumina GAIIx	Phase_I	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	827	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136					Q96AA9|Q9BZY7	Silent	SNP	ENST00000341846.5	37	c.406C>A	CCDS8428.1																																																																																				0.657	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		6	196	6	196	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124747172	124747172	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:124747172C>A	ENST00000397801.1	+	19	3005	c.2813C>A	c.(2812-2814)cCg>cAg	p.P938Q	ROBO3_ENST00000543966.1_5'Flank|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q|ROBO3_ENST00000525482.1_Intron	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	938					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GTGTCCTTCCCGCACTCAGAG	0.617																																						ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2812-2814)cCg>cAg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							119.0	112.0	114.0					11																	124747172		1891	4108	5999	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124747172C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2813C>A	11.37:g.124747172C>A	ENSP00000380903:p.Pro938Gln		Somatic				ROBO3_ENST00000525482.1_Intron|ROBO3_ENST00000538940.1_Missense_Mutation_p.P916Q	p.P938Q	NM_022370.3	NP_071765.2	WXS	Illumina GAIIx	Phase_I	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	19	3005	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	938						Missense_Mutation	SNP	ENST00000397801.1	37	c.2813C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273166	0.59649	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.62364	0.03;0.04	5.4	5.4	0.78164	.	0.000000	0.38837	N	0.001549	T	0.48241	0.1489	N	0.20986	0.625	0.80722	D	1	B	0.25743	0.133	B	0.32289	0.143	T	0.42275	-0.9461	10	0.02654	T	1	.	16.9402	0.86216	0.0:1.0:0.0:0.0	.	938	Q96MS0	ROBO3_HUMAN	Q	938;916	ENSP00000380903:P938Q;ENSP00000441797:P916Q	ENSP00000380903:P938Q	P	+	2	0	ROBO3	124252382	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.233000	0.65337	2.518000	0.84900	0.655000	0.94253	CCG		0.617	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	120	6	120	---	---	---	---
RPUSD4	84881	broad.mit.edu	37	11	126079521	126079521	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:126079521C>A	ENST00000298317.4	-	3	505	c.452G>T	c.(451-453)cGg>cTg	p.R151L	FAM118B_ENST00000360194.4_5'Flank|FAM118B_ENST00000529731.1_5'Flank|RPUSD4_ENST00000534393.1_5'UTR|FAM118B_ENST00000533050.1_5'Flank|RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RP11-50B3.4_ENST00000532866.1_RNA	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	151					pseudouridine synthesis (GO:0001522)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CTTGTCCAGCCGGTGGCACAG	0.532																																						ENST00000298317.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17						c.(451-453)cGg>cTg		RNA pseudouridylate synthase domain containing 4							237.0	219.0	225.0					11																	126079521		2201	4299	6500	SO:0001583	missense	84881				pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding	g.chr11:126079521C>A	BC014131	CCDS8469.1, CCDS53721.1	11q24.2	2013-02-11			ENSG00000165526	ENSG00000165526		"""RNA pseudouridylate synthase domain containing"""	25898	protein-coding gene	gene with protein product							Standard	NM_032795		Approved	FLJ14494	uc001qde.3	Q96CM3	OTTHUMG00000165815	ENST00000298317.4:c.452G>T	11.37:g.126079521C>A	ENSP00000298317:p.Arg151Leu		Somatic				RPUSD4_ENST00000533628.1_Missense_Mutation_p.R151L|RPUSD4_ENST00000534393.1_5'UTR	p.R151L	NM_032795.2	NP_116184.2	WXS	Illumina GAIIx	Phase_I	Q96CM3	RUSD4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)	3	505	-	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)	151					E9PML2|Q96K56	Missense_Mutation	SNP	ENST00000298317.4	37	c.452G>T	CCDS8469.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564247	0.86335	.	.	ENSG00000165526	ENST00000298317;ENST00000533628;ENST00000532674	T;T;T	0.60920	0.15;0.15;0.15	5.33	5.33	0.75918	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase, RluC/RluD, conserved site (1);	0.248697	0.39687	N	0.001292	D	0.85982	0.5824	H	0.98507	4.25	0.43579	D	0.995916	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.91569	0.5270	10	0.87932	D	0	-10.8912	18.0365	0.89305	0.0:1.0:0.0:0.0	.	151;151	E9PML2;Q96CM3	.;RUSD4_HUMAN	L	151	ENSP00000298317:R151L;ENSP00000433065:R151L;ENSP00000433709:R151L	ENSP00000298317:R151L	R	-	2	0	RPUSD4	125584731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.911000	0.63328	2.495000	0.84180	0.655000	0.94253	CGG		0.532	RPUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386336.1	NM_032795		7	313	7	313	---	---	---	---
B4GALNT3	283358	broad.mit.edu	37	12	667678	667678	+	Missense_Mutation	SNP	C	C	A	rs367975617		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:667678C>A	ENST00000266383.5	+	18	2625	c.2612C>A	c.(2611-2613)cCg>cAg	p.P871Q		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	871					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCCAGGACCCGCACAGCATC	0.587																																						ENST00000266383.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(2611-2613)cCg>cAg		beta-1,4-N-acetyl-galactosaminyl transferase 3							170.0	148.0	155.0					12																	667678		2203	4300	6503	SO:0001583	missense	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:667678C>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2612C>A	12.37:g.667678C>A	ENSP00000266383:p.Pro871Gln		Somatic					p.P871Q	NM_173593.3	NP_775864.3	WXS	Illumina GAIIx	Phase_I	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		18	2625	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		871					Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.2612C>A	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675877	0.67928	.	.	ENSG00000139044	ENST00000266383	T	0.35236	1.32	4.85	4.85	0.62838	.	0.287438	0.38837	N	0.001554	T	0.58104	0.2099	M	0.64997	1.995	0.42909	D	0.994251	D	0.69078	0.997	D	0.71870	0.975	T	0.60601	-0.7231	10	0.52906	T	0.07	-14.8015	18.3379	0.90295	0.0:1.0:0.0:0.0	.	871	Q6L9W6	B4GN3_HUMAN	Q	871	ENSP00000266383:P871Q	ENSP00000266383:P871Q	P	+	2	0	B4GALNT3	537939	1.000000	0.71417	0.934000	0.37439	0.755000	0.42902	4.813000	0.62620	2.385000	0.81259	0.462000	0.41574	CCG		0.587	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		5	194	5	194	---	---	---	---
NRIP2	83714	broad.mit.edu	37	12	2943848	2943848	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:2943848G>T	ENST00000337508.4	-	1	342	c.302C>A	c.(301-303)cCg>cAg	p.P101Q		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	101					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCTGTCCAGCGGGAGCAGGTC	0.657																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(301-303)cCg>cAg		nuclear receptor interacting protein 2							63.0	66.0	65.0					12																	2943848		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2943848G>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.302C>A	12.37:g.2943848G>T	ENSP00000337501:p.Pro101Gln		Somatic					p.P101Q	NM_031474.2	NP_113662.1	WXS	Illumina GAIIx	Phase_I	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	342	-			101					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.302C>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945285	0.73672	.	.	ENSG00000053702	ENST00000337508;ENST00000546074;ENST00000542990;ENST00000542386	.	.	.	4.34	3.45	0.39498	.	0.071736	0.56097	D	0.000032	T	0.68201	0.2975	L	0.60455	1.87	0.42479	D	0.992858	D	0.89917	1.0	D	0.91635	0.999	T	0.65965	-0.6040	9	0.35671	T	0.21	-21.6146	9.8362	0.40971	0.1011:0.0:0.8989:0.0	.	101	Q9BQI9	NRIP2_HUMAN	Q	101;90;51;51	.	ENSP00000337501:P101Q	P	-	2	0	NRIP2	2814109	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	8.278000	0.89899	1.057000	0.40506	0.484000	0.47621	CCG		0.657	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		5	128	5	128	---	---	---	---
PHC1	1911	broad.mit.edu	37	12	9087015	9087015	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9087015C>A	ENST00000543824.1	+	11	2526	c.2194C>A	c.(2194-2196)Cag>Aag	p.Q732K	PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000433083.2_Missense_Mutation_p.Q687K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	732					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CGTGAAGCCCCAGATTCTCAC	0.552																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(2059-2061)Cag>Aag		polyhomeotic homolog 1 (Drosophila)							63.0	62.0	62.0					12																	9087015		2203	4297	6500	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9087015C>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2194C>A	12.37:g.9087015C>A	ENSP00000440674:p.Gln732Lys		Somatic				PHC1_ENST00000544916.1_Missense_Mutation_p.Q732K|PHC1_ENST00000543824.1_Missense_Mutation_p.Q732K|PHC1_ENST00000536844.1_Missense_Mutation_p.Q338K	p.Q687K			WXS	Illumina GAIIx	Phase_I	P78364	PHC1_HUMAN			9	2204	+			732					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.2059C>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113999	0.56398	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.62816	0.2459	M	0.75085	2.285	0.54753	D	0.999985	D	0.58268	0.982	P	0.51550	0.673	T	0.66432	-0.5925	10	0.72032	D	0.01	-14.8614	19.6841	0.95974	0.0:1.0:0.0:0.0	.	732	P78364	PHC1_HUMAN	K	732;732;687;732;338	ENSP00000440674:Q732K;ENSP00000251757:Q732K;ENSP00000399194:Q687K;ENSP00000437659:Q732K;ENSP00000440488:Q338K	ENSP00000251757:Q732K	Q	+	1	0	PHC1	8978282	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.529000	0.60588	2.765000	0.95021	0.591000	0.81541	CAG		0.552	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		5	75	5	75	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9346733	9346733	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:9346733C>A	ENST00000261336.2	-	11	1222	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	398					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GTGCAAGACCCTGCTCATTGG	0.413																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1192-1194)caG>caT		pregnancy-zone protein							169.0	163.0	165.0					12																	9346733		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9346733C>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1194G>T	12.37:g.9346733C>A	ENSP00000261336:p.Gln398His		Somatic				PZP_ENST00000381997.2_Missense_Mutation_p.Q267H	p.Q398H	NM_002864.2	NP_002855.2	WXS	Illumina GAIIx	Phase_I					11	1222	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1194G>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.186124	0.00305	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.33865	1.59;1.39	3.53	-7.07	0.01563	.	1.110920	0.07037	N	0.829486	T	0.09905	0.0243	N	0.01109	-1.01	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.17433	0.018;0.001	T	0.38394	-0.9663	10	0.06365	T	0.9	.	10.8047	0.46509	0.7027:0.1815:0.1157:0.0	.	267;398	P20742-2;P20742	.;PZP_HUMAN	H	398;267	ENSP00000261336:Q398H;ENSP00000371427:Q267H	ENSP00000261336:Q398H	Q	-	3	2	PZP	9238000	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.429000	0.01025	-2.094000	0.00854	-1.193000	0.01689	CAG		0.413	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		6	135	6	135	---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25243031	25243031	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:25243031G>T	ENST00000354454.3	+	13	1335	c.506G>T	c.(505-507)tGg>tTg	p.W169L	LRMP_ENST00000547044.1_Missense_Mutation_p.W169L|LRMP_ENST00000548766.1_Missense_Mutation_p.W169L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	225					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					AAGTGTGACTGGTTTACCTTG	0.398																																						ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(505-507)tGg>tTg		lymphoid-restricted membrane protein							129.0	131.0	130.0					12																	25243031		2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25243031G>T		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.506G>T	12.37:g.25243031G>T	ENSP00000346442:p.Trp169Leu		Somatic				LRMP_ENST00000548766.1_Missense_Mutation_p.W169L|LRMP_ENST00000547044.1_Missense_Mutation_p.W169L	p.W169L	NM_006152.3	NP_006143.2	WXS	Illumina GAIIx	Phase_I	Q12912	LRMP_HUMAN			13	1335	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		225					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.506G>T	CCDS8701.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.08|10.08	1.253420|1.253420	0.22965|0.22965	.|.	.|.	ENSG00000118308|ENSG00000118308	ENST00000555885|ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	.|T;T;T;T	.|0.15256	.|2.44;2.44;2.44;2.44	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.250481	.|0.39341	.|N	.|0.001389	T|T	0.12944|0.12944	0.0314|0.0314	L|L	0.28115|0.28115	0.83|0.83	0.34043|0.34043	D|D	0.655209|0.655209	.|B	.|0.11235	.|0.004	.|B	.|0.17979	.|0.02	T|T	0.14476|0.14476	-1.0471|-1.0471	5|10	.|0.25751	.|T	.|0.34	-3.247|-3.247	12.4195|12.4195	0.55512|0.55512	0.0:0.0:0.8323:0.1677|0.0:0.0:0.8323:0.1677	.|.	.|225	.|Q12912	.|LRMP_HUMAN	C|L	20|169;116;169;169	.|ENSP00000346442:W169L;ENSP00000444056:W116L;ENSP00000446496:W169L;ENSP00000450246:W169L	.|ENSP00000346442:W169L	G|W	+|+	1|2	0|0	LRMP|LRMP	25134298|25134298	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.642000|3.642000	0.54367|0.54367	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.398	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		7	99	7	99	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26816707	26816707	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:26816707C>A	ENST00000381340.3	-	15	2040	c.1624G>T	c.(1624-1626)Ggg>Tgg	p.G542W		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	542					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTTTGATCCCCCAGATCTTCA	0.463																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(1624-1626)Ggg>Tgg		inositol 1,4,5-trisphosphate receptor, type 2							268.0	263.0	265.0					12																	26816707		1881	4122	6003	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26816707C>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1624G>T	12.37:g.26816707C>A	ENSP00000370744:p.Gly542Trp		Somatic					p.G542W	NM_002223.2	NP_002214.2	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			15	2040	-	Colorectal(261;0.0847)		542					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.1624G>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050565	0.75960	.	.	ENSG00000123104	ENST00000381340	D	0.96232	-3.95	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97692	0.9243	M	0.70595	2.14	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	D	0.97061	0.9771	10	0.35671	T	0.21	.	18.2276	0.89923	0.0:1.0:0.0:0.0	.	542	Q14571	ITPR2_HUMAN	W	542	ENSP00000370744:G542W	ENSP00000370744:G542W	G	-	1	0	ITPR2	26707974	0.996000	0.38824	0.948000	0.38648	0.969000	0.65631	4.635000	0.61332	2.596000	0.87737	0.655000	0.94253	GGG		0.463	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		8	337	8	337	---	---	---	---
KLHL42	57542	broad.mit.edu	37	12	27950650	27950650	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:27950650C>A	ENST00000381271.2	+	3	1380	c.1069C>A	c.(1069-1071)Cgg>Agg	p.R357R	RP11-860B13.3_ENST00000543527.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	357					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCTTTCAGACCGGAACATGAA	0.473																																						ENST00000381271.2																			0											c.(1069-1071)Cgg>Agg		kelch-like family member 42							262.0	250.0	254.0					12																	27950650		2203	4300	6503	SO:0001819	synonymous_variant	57542							g.chr12:27950650C>A	AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.1069C>A	12.37:g.27950650C>A			Somatic					p.R357R	NM_020782.1	NP_065833.1	WXS	Illumina GAIIx	Phase_I					3	1380	+								Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	c.1069C>A	CCDS31763.1																																																																																				0.473	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782		7	425	7	425	---	---	---	---
PTHLH	5744	broad.mit.edu	37	12	28116547	28116547	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:28116547G>T	ENST00000545234.1	-	5	798	c.258C>A	c.(256-258)ccC>ccA	p.P86P	PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000535992.1_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000354417.3_Silent_p.P86P|PTHLH_ENST00000395872.1_Silent_p.P86P			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	86					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TCTTTGTGTTGGGAGAGGGCT	0.512																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(256-258)ccC>ccA		parathyroid hormone-like hormone							181.0	183.0	183.0					12																	28116547		2203	4300	6503	SO:0001819	synonymous_variant	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28116547G>T		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.258C>A	12.37:g.28116547G>T			Somatic				PTHLH_ENST00000354417.3_Silent_p.P86P|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.P86P|PTHLH_ENST00000201015.4_Silent_p.P86P|PTHLH_ENST00000538310.1_Silent_p.P86P|PTHLH_ENST00000539239.1_Silent_p.P86P|PTHLH_ENST00000545234.1_Silent_p.P86P|PTHLH_ENST00000395868.3_Silent_p.P86P	p.P86P			WXS	Illumina GAIIx	Phase_I	P12272	PTHR_HUMAN			3	604	-	Lung SC(9;0.184)		86					Q15251|Q6FH74	Silent	SNP	ENST00000545234.1	37	c.258C>A	CCDS44853.1																																																																																				0.512	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		7	207	7	207	---	---	---	---
ALG10B	144245	broad.mit.edu	37	12	38712251	38712251	+	Silent	SNP	C	C	A	rs147946662		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:38712251C>A	ENST00000308742.4	+	2	676	c.360C>A	c.(358-360)ccC>ccA	p.P120P	ALG10B_ENST00000551464.1_Silent_p.P120P	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	120					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AGGTACAACCCAGAAACAAGG	0.333																																						ENST00000308742.4																			0				breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25						c.(358-360)ccC>ccA		ALG10B, alpha-1,2-glucosyltransferase							164.0	157.0	159.0					12																	38712251		2203	4300	6503	SO:0001819	synonymous_variant	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38712251C>A	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.360C>A	12.37:g.38712251C>A			Somatic				ALG10B_ENST00000551464.1_Silent_p.P120P	p.P120P	NM_001013620.3	NP_001013642.1	WXS	Illumina GAIIx	Phase_I	Q5I7T1	AG10B_HUMAN			2	676	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	120					B2RPF4	Silent	SNP	ENST00000308742.4	37	c.360C>A	CCDS31772.1																																																																																				0.333	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		5	127	5	127	---	---	---	---
PCED1B	91523	broad.mit.edu	37	12	47629815	47629815	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:47629815C>A	ENST00000546455.1	+	4	1700	c.969C>A	c.(967-969)ccC>ccA	p.P323P	PCED1B_ENST00000432328.1_Silent_p.P323P|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	323	Pro-rich.						hydrolase activity (GO:0016787)										ctcctcctcccATTCTCCATC	0.602																																						ENST00000546455.1																			0											c.(967-969)ccC>ccA		PC-esterase domain containing 1B							100.0	105.0	104.0					12																	47629815		2203	4300	6503	SO:0001819	synonymous_variant	91523							g.chr12:47629815C>A	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.969C>A	12.37:g.47629815C>A			Somatic				PCED1B_ENST00000432328.1_Silent_p.P323P	p.P323P			WXS	Illumina GAIIx	Phase_I					4	1700	+								Q96B20	Silent	SNP	ENST00000546455.1	37	c.969C>A	CCDS8752.1																																																																																				0.602	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371		7	160	7	160	---	---	---	---
DNAJC22	79962	broad.mit.edu	37	12	49742879	49742879	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:49742879C>A	ENST00000549441.2	+	3	1428	c.224C>A	c.(223-225)cCt>cAt	p.P75H	DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	75						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GTGACACCCCCTCTGAGTCCC	0.557																																						ENST00000549441.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						c.(223-225)cCt>cAt		DnaJ (Hsp40) homolog, subfamily C, member 22							104.0	115.0	111.0					12																	49742879		2203	4300	6503	SO:0001583	missense	79962				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr12:49742879C>A	AK055747	CCDS8785.1	12q13.12	2011-09-02		2008-07-08	ENSG00000178401	ENSG00000178401		"""Heat shock proteins / DNAJ (HSP40)"""	25802	protein-coding gene	gene with protein product	"""wurst homolog (Drosophila)"""					17558392	Standard	NM_024902		Approved	wus, FLJ13236	uc001rua.3	Q8N4W6		ENST00000549441.2:c.224C>A	12.37:g.49742879C>A	ENSP00000446830:p.Pro75His		Somatic				DNAJC22_ENST00000395069.3_Missense_Mutation_p.P75H	p.P75H			WXS	Illumina GAIIx	Phase_I	Q8N4W6	DJC22_HUMAN			3	1428	+			75					B3KP54	Missense_Mutation	SNP	ENST00000549441.2	37	c.224C>A	CCDS8785.1	.	.	.	.	.	.	.	.	.	.	C	17.36	3.370324	0.61624	.	.	ENSG00000178401	ENST00000549441;ENST00000395069	T;T	0.58210	0.35;0.35	5.16	4.21	0.49690	.	0.162146	0.56097	D	0.000034	T	0.66346	0.2780	L	0.59436	1.845	0.53688	D	0.999978	D	0.89917	1.0	D	0.63957	0.92	T	0.70230	-0.4929	10	0.87932	D	0	-7.748	15.2478	0.73521	0.0:0.8592:0.1408:0.0	.	75	Q8N4W6	DJC22_HUMAN	H	75	ENSP00000446830:P75H;ENSP00000378508:P75H	ENSP00000378508:P75H	P	+	2	0	DNAJC22	48029146	0.171000	0.23029	0.458000	0.27068	0.513000	0.34164	2.765000	0.47621	2.567000	0.86603	0.561000	0.74099	CCT		0.557	DNAJC22-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404302.2	NM_024902		6	126	6	126	---	---	---	---
DAZAP2	9802	broad.mit.edu	37	12	51636194	51636194	+	Missense_Mutation	SNP	G	G	T	rs11555475	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:51636194G>T	ENST00000412716.3	+	4	1075	c.459G>T	c.(457-459)aaG>aaT	p.K153N	DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000604900.1_Intron			Q15038	DAZP2_HUMAN	DAZ associated protein 2	153						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CTCAGCGGAAGGGGAACTTCT	0.542																																						ENST00000412716.3																			0				haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						c.(457-459)aaG>aaT		DAZ associated protein 2							240.0	206.0	218.0					12																	51636194		2203	4300	6503	SO:0001583	missense	9802						WW domain binding	g.chr12:51636194G>T	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.459G>T	12.37:g.51636194G>T	ENSP00000394699:p.Lys153Asn		Somatic				DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000551313.1_Missense_Mutation_p.K93N|DAZAP2_ENST00000549732.2_Missense_Mutation_p.K121N|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000439799.2_Missense_Mutation_p.K71N|DAZAP2_ENST00000449723.3_Missense_Mutation_p.K131N|DAZAP2_ENST00000549555.1_Missense_Mutation_p.G128W	p.K153N			WXS	Illumina GAIIx	Phase_I	Q15038	DAZP2_HUMAN			4	1075	+			153					A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	ENST00000412716.3	37	c.459G>T	CCDS8809.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.14|16.14	3.039632|3.039632	0.55003|0.55003	.|.	.|.	ENSG00000183283|ENSG00000183283	ENST00000549555|ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T|T;T;T;T;T	0.56776|0.60548	0.44|0.18;0.18;0.18;0.18;0.18	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73466|0.73466	0.3590|0.3590	M|M	0.76838|0.76838	2.35|2.35	0.50813|0.50813	D|D	0.99989|0.99989	D|D;D;D	0.53885|0.69078	0.963|0.997;0.975;0.991	P|D;D;D	0.45195|0.81914	0.473|0.995;0.937;0.987	T|T	0.75909|0.75909	-0.3151|-0.3151	9|10	0.87932|0.66056	D|D	0|0.02	-5.0575|-5.0575	9.9692|9.9692	0.41743|0.41743	0.1585:0.0:0.8415:0.0|0.1585:0.0:0.8415:0.0	.|.	128|121;71;153	F8VU62|C9JP84;C9JA96;Q15038	.|.;.;DAZP2_HUMAN	W|N	128|153;71;121;131;93	ENSP00000448051:G128W|ENSP00000394699:K153N;ENSP00000398804:K71N;ENSP00000446554:K121N;ENSP00000412812:K131N;ENSP00000447842:K93N	ENSP00000448051:G128W|ENSP00000394699:K153N	G|K	+|+	1|3	0|2	DAZAP2|DAZAP2	49922461|49922461	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	4.828000|4.828000	0.62730|0.62730	1.443000|1.443000	0.47586|0.47586	0.655000|0.655000	0.94253|0.94253	GGG|AAG		0.542	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405259.2	NM_014764		9	257	9	257	---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52710743	52710743	+	Missense_Mutation	SNP	C	C	A	rs369510264		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:52710743C>A	ENST00000293670.3	-	5	877	c.815G>T	c.(814-816)cGg>cTg	p.R272L		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	272	Linker 12.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCAGGTCCCGGCTGTTGTC	0.562																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(814-816)cGg>cTg		keratin 83							160.0	136.0	144.0					12																	52710743		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52710743C>A	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.815G>T	12.37:g.52710743C>A	ENSP00000293670:p.Arg272Leu		Somatic					p.R272L	NM_002282.3	NP_002273.3	WXS	Illumina GAIIx	Phase_I	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	5	877	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		272			Linker 12.|Rod.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.815G>T	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	32	5.157368	0.94686	.	.	ENSG00000170523	ENST00000293670	T	0.77358	-1.09	3.9	3.9	0.45041	Filament (1);	0.000000	0.37577	U	0.002039	D	0.87442	0.6178	M	0.82630	2.6	0.49051	D	0.999749	P	0.49559	0.925	P	0.60682	0.878	D	0.90171	0.4235	10	0.87932	D	0	.	16.2457	0.82445	0.0:1.0:0.0:0.0	.	272	P78385	KRT83_HUMAN	L	272	ENSP00000293670:R272L	ENSP00000293670:R272L	R	-	2	0	KRT83	50997010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	1.894000	0.54839	0.561000	0.74099	CGG		0.562	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	149	5	149	---	---	---	---
IL23A	51561	broad.mit.edu	37	12	56733285	56733285	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:56733285C>A	ENST00000228534.4	+	2	404	c.238C>A	c.(238-240)Caa>Aaa	p.Q80K	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	80					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGTGACCCCCAAGGACTCAG	0.507																																						ENST00000228534.4																			0				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(238-240)Caa>Aaa		interleukin 23, alpha subunit p19							90.0	76.0	80.0					12																	56733285		2203	4300	6503	SO:0001583	missense	51561				defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity	g.chr12:56733285C>A	AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.238C>A	12.37:g.56733285C>A	ENSP00000228534:p.Gln80Lys		Somatic					p.Q80K	NM_016584.2	NP_057668.1	WXS	Illumina GAIIx	Phase_I	Q9NPF7	IL23A_HUMAN			2	404	+			80					Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	ENST00000228534.4	37	c.238C>A	CCDS8916.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.329648	0.41297	.	.	ENSG00000110944	ENST00000228534	T	0.30714	1.52	5.73	2.77	0.32553	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.344601	0.25222	N	0.032238	T	0.21718	0.0523	L	0.34521	1.04	0.34771	D	0.733746	B	0.06786	0.001	B	0.06405	0.002	T	0.24225	-1.0166	10	0.72032	D	0.01	-4.7723	8.5169	0.33250	0.1626:0.5229:0.3145:0.0	.	80	Q9NPF7	IL23A_HUMAN	K	80	ENSP00000228534:Q80K	ENSP00000228534:Q80K	Q	+	1	0	IL23A	55019552	0.373000	0.25073	0.990000	0.47175	0.976000	0.68499	0.420000	0.21263	1.565000	0.49641	0.655000	0.94253	CAA		0.507	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_016584		4	35	4	35	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57857845	57857845	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57857845C>A	ENST00000228682.2	+	3	255	c.164C>A	c.(163-165)cCa>cAa	p.P55Q	GLI1_ENST00000543426.1_Intron|GLI1_ENST00000546141.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	55					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTTATGGGCCAGCCAGAGAG	0.567																																					Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(163-165)cCa>cAa		GLI family zinc finger 1							141.0	134.0	136.0					12																	57857845		2203	4300	6503	SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857845C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.164C>A	12.37:g.57857845C>A	ENSP00000228682:p.Pro55Gln		Somatic				GLI1_ENST00000546141.1_Intron|GLI1_ENST00000543426.1_Intron	p.P55Q	NM_005269.2	NP_005260.1	WXS	Illumina GAIIx	Phase_I	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		3	255	+			55					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.164C>A	CCDS8940.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370451	0.42003	.	.	ENSG00000111087	ENST00000228682;ENST00000544736;ENST00000528432	T	0.11930	2.73	4.28	4.28	0.50868	.	0.548633	0.16565	N	0.208894	T	0.06462	0.0166	N	0.04508	-0.205	0.80722	D	1	B	0.14805	0.011	B	0.12837	0.008	T	0.33266	-0.9875	10	0.13853	T	0.58	.	12.4233	0.55532	0.0:1.0:0.0:0.0	.	55	P08151	GLI1_HUMAN	Q	55;9;55	ENSP00000228682:P55Q	ENSP00000228682:P55Q	P	+	2	0	GLI1	56144112	0.557000	0.26546	0.978000	0.43139	0.997000	0.91878	1.832000	0.39151	2.380000	0.81148	0.555000	0.69702	CCA		0.567	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		6	186	6	186	---	---	---	---
MBD6	114785	broad.mit.edu	37	12	57920645	57920645	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:57920645C>A	ENST00000355673.3	+	7	2073	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	573	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						ACAACCTCCCCCTGAGCCCCT	0.622																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(1717-1719)Cct>Act		methyl-CpG binding domain protein 6							77.0	71.0	73.0					12																	57920645		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57920645C>A	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1717C>A	12.37:g.57920645C>A	ENSP00000347896:p.Pro573Thr		Somatic				MBD6_ENST00000431731.2_Missense_Mutation_p.P573T	p.P573T	NM_052897.3	NP_443129.3	WXS	Illumina GAIIx	Phase_I	Q96DN6	MBD6_HUMAN			7	2073	+			573			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1717C>A	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491324	0.26774	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.07	4.07	0.47477	.	0.155551	0.28414	N	0.015423	T	0.44244	0.1284	N	0.08118	0	0.33530	D	0.593553	D;D	0.76494	0.999;0.99	D;P	0.78314	0.991;0.905	T	0.55114	-0.8191	9	0.42905	T	0.14	-4.7894	9.3801	0.38309	0.0:0.8987:0.0:0.1013	.	573;573	Q6P0P0;Q96DN6	.;MBD6_HUMAN	T	573;573;37	.	ENSP00000300263:P37T	P	+	1	0	MBD6	56206912	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.995000	0.40767	2.283000	0.76528	0.561000	0.74099	CCT		0.622	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			5	64	5	64	---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63543872	63543872	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:63543872C>A	ENST00000299178.2	-	1	850	c.745G>T	c.(745-747)Ggg>Tgg	p.G249W		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	249					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)	p.G249W(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCCGTCTTCCCGCGGACGTTG	0.612																																						ENST00000299178.2																			1	Substitution - Missense(1)	p.G249W(1)	lung(1)	central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26						c.(745-747)Ggg>Tgg		arginine vasopressin receptor 1A	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)						90.0	91.0	91.0					12																	63543872		2203	4300	6503	SO:0001583	missense	552				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	g.chr12:63543872C>A	L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.745G>T	12.37:g.63543872C>A	ENSP00000299178:p.Gly249Trp		Somatic					p.G249W	NM_000706.4	NP_000697.1	WXS	Illumina GAIIx	Phase_I	P37288	V1AR_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	1	850	-			249						Missense_Mutation	SNP	ENST00000299178.2	37	c.745G>T	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361560	0.41801	.	.	ENSG00000166148	ENST00000550940;ENST00000299178	T;T	0.72167	-0.63;-0.63	5.29	4.4	0.53042	GPCR, rhodopsin-like superfamily (1);	0.283855	0.39274	N	0.001414	T	0.80565	0.4647	M	0.76838	2.35	0.35538	D	0.802787	D	0.61080	0.989	D	0.65573	0.936	D	0.84518	0.0626	9	.	.	.	-7.8536	8.0839	0.30760	0.1559:0.7631:0.0:0.081	.	249	P37288	V1AR_HUMAN	W	30;249	ENSP00000449822:G30W;ENSP00000299178:G249W	.	G	-	1	0	AVPR1A	61830139	0.014000	0.17966	0.765000	0.31456	0.955000	0.61496	1.617000	0.36943	1.237000	0.43756	-0.380000	0.06706	GGG		0.612	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1			5	143	5	143	---	---	---	---
XPOT	11260	broad.mit.edu	37	12	64819661	64819661	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:64819661C>A	ENST00000332707.5	+	15	2168	c.1639C>A	c.(1639-1641)Ctg>Atg	p.L547M		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	547	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		GACGGCTTACCTGTTTTCTAG	0.348																																						ENST00000332707.5																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1639-1641)Ctg>Atg		exportin, tRNA							135.0	145.0	141.0					12																	64819661		2203	4300	6503	SO:0001583	missense	11260				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	g.chr12:64819661C>A	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1639C>A	12.37:g.64819661C>A	ENSP00000327821:p.Leu547Met		Somatic					p.L547M	NM_007235.4	NP_009166.2	WXS	Illumina GAIIx	Phase_I	O43592	XPOT_HUMAN		GBM - Glioblastoma multiforme(28;0.0404)	15	2168	+			547			Necessary for tRNA-binding, cytoplasmic localization and nuclear export.		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	ENST00000332707.5	37	c.1639C>A	CCDS31852.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714533	0.68730	.	.	ENSG00000184575	ENST00000332707;ENST00000538086	T;T	0.69306	-0.39;-0.39	4.35	2.51	0.30379	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.78336	0.4267	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.68943	0.961	T	0.77517	-0.2558	9	.	.	.	.	10.4929	0.44760	0.0:0.8388:0.0:0.1612	.	547	O43592	XPOT_HUMAN	M	547;69	ENSP00000327821:L547M;ENSP00000444345:L69M	.	L	+	1	2	XPOT	63105928	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.932000	0.48940	0.557000	0.29117	0.591000	0.81541	CTG		0.348	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235		10	244	10	244	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	99145222	99145222	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:99145222C>A	ENST00000547776.2	-	25	3582	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	1195	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGTGTCCCCCTTTTCTTGCT	0.473																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(3583-3585)Ggg>Tgg		ankyrin repeat and sterile alpha motif domain containing 1B							169.0	171.0	170.0					12																	99145222		1891	4106	5997	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99145222C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.3583G>T	12.37:g.99145222C>A	ENSP00000449629:p.Gly1195Trp		Somatic				ANKS1B_ENST00000549558.2_Missense_Mutation_p.G361W|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G361W|ANKS1B_ENST00000341752.7_Missense_Mutation_p.G201W|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G385W|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G445W|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G385W|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G1195W|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G330W|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G421W|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G293W|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G711W|ANKS1B_ENST00000333732.7_Missense_Mutation_p.G225W	p.G1195W	NM_152788.4	NP_690001.3	WXS	Illumina GAIIx	Phase_I	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	25	3582	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	1195			PID.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.3583G>T	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025484|4.025484	0.75390|0.75390	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000341752;ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000333732;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960|ENST00000550778	T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.71579|0.65916	-0.22;-0.21;0.92;0.14;0.92;-0.16;0.41;-0.17;-0.58;-0.15;-0.17;0.17;-0.21|-0.18	5.08|5.08	5.08|5.08	0.68730|0.68730	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);|.	0.075918|.	0.52532|.	D|.	0.000061|.	T|T	0.54822|0.54822	0.1882|0.1882	N|N	0.14661|0.14661	0.345|0.345	0.37909|0.37909	D|D	0.931301|0.931301	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.985;1.0;0.999;0.983;0.999;1.0;0.99;0.983;0.999;0.99;1.0;1.0;0.99|.	P;D;D;P;D;D;D;D;D;D;D;D;D|.	0.79108|.	0.833;0.987;0.972;0.831;0.98;0.981;0.915;0.915;0.98;0.942;0.992;0.987;0.942|.	T|T	0.56523|0.56523	-0.7965|-0.7965	10|6	0.87932|.	D|.	0|.	-7.3655|-7.3655	18.4626|18.4626	0.90745|0.90745	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	330;225;225;421;385;335;409;361;445;293;711;1195;361|.	F8VPM3;F8VR14;B7Z9I9;Q7Z6G8-4;Q7Z6G8-5;B1VKB5;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7|.	.;.;.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.|.	W|N	201;361;1195;711;1195;710;385;293;445;330;225;361;385;286;421|466	ENSP00000345510:G201W;ENSP00000448993:G361W;ENSP00000449629:G1195W;ENSP00000448512:G711W;ENSP00000331381:G1195W;ENSP00000447999:G385W;ENSP00000447312:G293W;ENSP00000448203:G445W;ENSP00000450015:G330W;ENSP00000331256:G225W;ENSP00000448205:G361W;ENSP00000332683:G385W;ENSP00000447839:G421W|ENSP00000448744:K466N	ENSP00000331381:G1195W|.	G|K	-|-	1|3	0|2	ANKS1B|ANKS1B	97669353|97669353	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.454000|4.454000	0.60068|0.60068	2.368000|2.368000	0.80403|0.80403	0.561000|0.561000	0.74099|0.74099	GGG|AAG		0.473	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		6	122	6	122	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104107524	104107524	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:104107524G>T	ENST00000388887.2	+	42	4719	c.4515G>T	c.(4513-4515)acG>acT	p.T1505T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGCTACACGGGTGATGGCA	0.527																																						ENST00000388887.2																			0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(4513-4515)acG>acT		stabilin 2							297.0	265.0	276.0					12																	104107524		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107524G>T	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4515G>T	12.37:g.104107524G>T			Somatic					p.T1505T	NM_017564.9	NP_060034.9	WXS	Illumina GAIIx	Phase_I	Q8WWQ8	STAB2_HUMAN			42	4719	+			1505			EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4515G>T	CCDS31888.1																																																																																				0.527	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	240	7	240	---	---	---	---
RFX4	5992	broad.mit.edu	37	12	107144484	107144484	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107144484C>A	ENST00000392842.1	+	17	2262	c.1848C>A	c.(1846-1848)ccC>ccA	p.P616P	RFX4_ENST00000229387.5_Silent_p.P522P|RFX4_ENST00000357881.4_Silent_p.P625P|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	616					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.P616P(1)|p.P625P(1)|p.P522P(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATCCTCACCCCATGCAGAGCC	0.507																																						ENST00000392842.1																			3	Substitution - coding silent(3)	p.P616P(1)|p.P625P(1)|p.P522P(1)	lung(3)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						c.(1846-1848)ccC>ccA		regulatory factor X, 4 (influences HLA class II expression)							207.0	194.0	198.0					12																	107144484		2203	4300	6503	SO:0001819	synonymous_variant	5992				transcription, DNA-dependent	nucleus	DNA binding	g.chr12:107144484C>A	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1848C>A	12.37:g.107144484C>A			Somatic				RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.P625P|RFX4_ENST00000229387.5_Silent_p.P522P	p.P616P	NM_213594.2	NP_998759.1	WXS	Illumina GAIIx	Phase_I	Q33E94	RFX4_HUMAN			17	2262	+			616					A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	c.1848C>A	CCDS9106.1																																																																																				0.507	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491		7	209	7	209	---	---	---	---
TMEM263	90488	broad.mit.edu	37	12	107365136	107365136	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107365136C>A	ENST00000280756.4	+	4	736	c.318C>A	c.(316-318)ccC>ccA	p.P106P	C12orf23_ENST00000547081.1_Silent_p.P106P|C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P	NM_152261.2	NP_689474.1	Q8WUH6	TM263_HUMAN		106						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)	3						ACAAAGTGCCCTTAACAGGAA	0.463																																						ENST00000280756.4																			0				endometrium(1)|lung(2)	3						c.(316-318)ccC>ccA		chromosome 12 open reading frame 23							99.0	85.0	90.0					12																	107365136		2203	4300	6503	SO:0001819	synonymous_variant	90488					integral to membrane		g.chr12:107365136C>A																												ENST00000280756.4:c.318C>A	12.37:g.107365136C>A			Somatic				C12orf23_ENST00000547242.1_Silent_p.P106P|C12orf23_ENST00000550344.1_Silent_p.P106P|C12orf23_ENST00000551813.1_Silent_p.P106P|C12orf23_ENST00000548125.1_Silent_p.P106P|C12orf23_ENST00000547081.1_Silent_p.P106P	p.P106P	NM_152261.2	NP_689474.1	WXS	Illumina GAIIx	Phase_I	Q8WUH6	CL023_HUMAN			4	736	+			106					B3KMN9	Silent	SNP	ENST00000280756.4	37	c.318C>A	CCDS9110.1																																																																																				0.463	C12orf23-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406857.1			5	76	5	76	---	---	---	---
CRY1	1407	broad.mit.edu	37	12	107391132	107391132	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:107391132C>A	ENST00000008527.5	-	10	2392	c.1525G>T	c.(1525-1527)Ggg>Tgg	p.G509W		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	509					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.G509W(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						CCTCCATTCCCATTAGGATTA	0.343																																						ENST00000008527.5																			1	Substitution - Missense(1)	p.G509W(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						c.(1525-1527)Ggg>Tgg		cryptochrome 1 (photolyase-like)							141.0	146.0	145.0					12																	107391132		2203	4300	6503	SO:0001583	missense	1407				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding	g.chr12:107391132C>A	BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1525G>T	12.37:g.107391132C>A	ENSP00000008527:p.Gly509Trp		Somatic					p.G509W	NM_004075.4	NP_004066.1	WXS	Illumina GAIIx	Phase_I	Q16526	CRY1_HUMAN			10	2392	-			509						Missense_Mutation	SNP	ENST00000008527.5	37	c.1525G>T	CCDS9112.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192384	0.58017	.	.	ENSG00000008405	ENST00000008527;ENST00000319645;ENST00000549356	.	.	.	5.79	5.79	0.91817	.	0.095180	0.64402	D	0.000001	T	0.67353	0.2884	L	0.60455	1.87	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.63743	-0.6568	9	0.87932	D	0	-14.3561	19.6321	0.95713	0.0:1.0:0.0:0.0	.	509	Q16526	CRY1_HUMAN	W	509;116;29	.	ENSP00000008527:G509W	G	-	1	0	CRY1	105915262	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.990000	0.76225	2.734000	0.93682	0.655000	0.94253	GGG		0.343	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075		7	221	7	221	---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108685637	108685637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:108685637C>A	ENST00000312143.7	-	3	1466	c.1103G>T	c.(1102-1104)aGg>aTg	p.R368M	CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	368					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)	p.R366M(1)		endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCCGGTCTCCCTCTCATTCAT	0.478																																						ENST00000312143.7																			1	Substitution - Missense(1)	p.R366M(1)	lung(1)	endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						c.(1102-1104)aGg>aTg		chemokine-like receptor 1							126.0	130.0	129.0					12																	108685637		1929	4133	6062	SO:0001583	missense	1240				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity	g.chr12:108685637C>A	U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.1103G>T	12.37:g.108685637C>A	ENSP00000311733:p.Arg368Met		Somatic				CMKLR1_ENST00000412676.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R366M|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R368M|CMKLR1_ENST00000552995.1_Missense_Mutation_p.R366M	p.R368M	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	WXS	Illumina GAIIx	Phase_I	Q99788	CML1_HUMAN			3	1466	-			368					A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	c.1103G>T	CCDS44965.1	.	.	.	.	.	.	.	.	.	.	C	7.596	0.671741	0.14776	.	.	ENSG00000174600	ENST00000312143;ENST00000412676;ENST00000397688;ENST00000552995;ENST00000550402	T;T;T;T;T	0.70282	-0.47;-0.47;-0.46;-0.46;-0.47	5.18	-1.29	0.09288	.	1.299820	0.05594	U	0.575125	T	0.54159	0.1841	N	0.08118	0	0.21933	N	0.99947	P	0.39576	0.679	B	0.41723	0.365	T	0.50092	-0.8868	10	0.49607	T	0.09	.	10.275	0.43504	0.0:0.3634:0.0:0.6366	.	368	Q99788	CML1_HUMAN	M	368;368;366;366;368	ENSP00000311733:R368M;ENSP00000401293:R368M;ENSP00000380803:R366M;ENSP00000447579:R366M;ENSP00000449716:R368M	ENSP00000311733:R368M	R	-	2	0	CMKLR1	107209767	0.059000	0.20769	0.733000	0.30861	0.047000	0.14425	-0.024000	0.12435	-0.657000	0.05373	-0.265000	0.10407	AGG		0.478	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1			6	114	6	114	---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111893853	111893853	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:111893853G>T	ENST00000377617.3	-	23	3885	c.3724C>A	c.(3724-3726)Cac>Aac	p.H1242N	ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1242					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGCCATGTGGGGTGGGTTG	0.512																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3724-3726)Cac>Aac		ataxin 2							310.0	279.0	290.0					12																	111893853		2203	4300	6503	SO:0001583	missense	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111893853G>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3724C>A	12.37:g.111893853G>T	ENSP00000366843:p.His1242Asn		Somatic				ATXN2_ENST00000535949.1_Missense_Mutation_p.H935N|ATXN2_ENST00000608853.1_Missense_Mutation_p.H1082N|ATXN2_ENST00000389153.4_Missense_Mutation_p.H979N|ATXN2_ENST00000542287.2_Missense_Mutation_p.H977N|ATXN2_ENST00000550104.1_3'UTR	p.H1242N	NM_002973.3	NP_002964.3	WXS	Illumina GAIIx	Phase_I	Q99700	ATX2_HUMAN			23	3885	-			1242					A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	c.3724C>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790549	0.90367	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949;ENST00000550844	T	0.63913	-0.07	5.59	5.59	0.84812	.	0.047328	0.85682	D	0.000000	T	0.68081	0.2962	N	0.19112	0.55	0.80722	D	1	D;P;P;D;D	0.71674	0.983;0.92;0.707;0.998;0.996	P;B;B;D;D	0.79784	0.689;0.355;0.202;0.993;0.986	T	0.64715	-0.6342	10	0.27785	T	0.31	-10.526	19.9595	0.97236	0.0:0.0:1.0:0.0	.	243;1242;935;977;979	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	N	297;979;1242;243;977;935;167	ENSP00000366843:H1242N	ENSP00000366843:H1242N	H	-	1	0	ATXN2	110378236	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.974000	0.93433	2.797000	0.96272	0.563000	0.77884	CAC		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		7	232	7	232	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116435003	116435003	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:116435003G>T	ENST00000281928.3	-	15	2808	c.2602C>A	c.(2602-2604)Cca>Aca	p.P868T		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAAGATGGTGGAGTGGGAAAC	0.398																																						ENST00000281928.3																			0				NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85						c.(2602-2604)Cca>Aca		mediator complex subunit 13-like							92.0	87.0	88.0					12																	116435003		2203	4300	6503	SO:0001583	missense	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116435003G>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.2602C>A	12.37:g.116435003G>T	ENSP00000281928:p.Pro868Thr		Somatic					p.P868T	NM_015335.4	NP_056150.1	WXS	Illumina GAIIx	Phase_I	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	15	2808	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		868					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	37	c.2602C>A	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833607	0.71258	.	.	ENSG00000123066	ENST00000281928	D	0.95656	-3.77	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.97845	0.9292	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98304	1.0520	10	0.87932	D	0	.	19.7125	0.96102	0.0:0.0:1.0:0.0	.	868	Q71F56	MD13L_HUMAN	T	868	ENSP00000281928:P868T	ENSP00000281928:P868T	P	-	1	0	MED13L	114919386	1.000000	0.71417	0.990000	0.47175	0.974000	0.67602	9.230000	0.95299	2.665000	0.90641	0.467000	0.42956	CCA		0.398	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			6	91	6	91	---	---	---	---
UNC119B	84747	broad.mit.edu	37	12	121154520	121154520	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:121154520C>A	ENST00000344651.4	+	3	488	c.448C>A	c.(448-450)Cgc>Agc	p.R150S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	150					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCATTTCTCCGCCTCCGGAC	0.537																																						ENST00000344651.4																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9						c.(448-450)Cgc>Agc		unc-119 homolog B (C. elegans)							220.0	202.0	208.0					12																	121154520		2203	4300	6503	SO:0001583	missense	84747							g.chr12:121154520C>A		CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.448C>A	12.37:g.121154520C>A	ENSP00000344942:p.Arg150Ser		Somatic					p.R150S	NM_001080533.1	NP_001074002.1	WXS	Illumina GAIIx	Phase_I	A6NIH7	U119B_HUMAN			3	488	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		150						Missense_Mutation	SNP	ENST00000344651.4	37	c.448C>A	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133815	0.77662	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	5.82	0.92795	Immunoglobulin E-set (1);	0.105411	0.64402	D	0.000010	T	0.62974	0.2472	M	0.73598	2.24	0.45452	D	0.99842	B	0.30709	0.291	B	0.26416	0.069	T	0.65425	-0.6171	9	0.72032	D	0.01	-16.5362	14.8846	0.70557	0.1433:0.8567:0.0:0.0	.	150	A6NIH7	U119B_HUMAN	S	150	.	ENSP00000344942:R150S	R	+	1	0	UNC119B	119638903	0.895000	0.30542	1.000000	0.80357	0.995000	0.86356	1.824000	0.39072	2.752000	0.94435	0.655000	0.94253	CGC		0.537	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1	NM_001080533		6	198	6	198	---	---	---	---
TCTN2	79867	broad.mit.edu	37	12	124171483	124171483	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr12:124171483G>T	ENST00000303372.5	+	6	793	c.665G>T	c.(664-666)gGg>gTg	p.G222V	TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	222					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGCTCTGCTGGGACGACGACA	0.527																																						ENST00000303372.5																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(664-666)gGg>gTg		tectonic family member 2							308.0	262.0	277.0					12																	124171483		2203	4300	6503	SO:0001583	missense	79867				cilium assembly|smoothened signaling pathway	integral to membrane		g.chr12:124171483G>T	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.665G>T	12.37:g.124171483G>T	ENSP00000304941:p.Gly222Val		Somatic				TCTN2_ENST00000426174.2_Missense_Mutation_p.G221V	p.G222V	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	WXS	Illumina GAIIx	Phase_I	Q96GX1	TECT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)	6	793	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		222					A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	ENST00000303372.5	37	c.665G>T	CCDS9253.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322306	0.23994	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81996	-1.56;-1.56	5.65	-7.36	0.01417	Domain of unknown function DUF1619 (1);	.	.	.	.	T	0.60741	0.2292	N	0.08118	0	0.09310	N	1	B;B	0.32010	0.351;0.351	B;B	0.33254	0.16;0.16	T	0.53753	-0.8394	9	0.27785	T	0.31	-30.2839	8.1366	0.31058	0.5189:0.2647:0.2164:0.0	.	221;222	A8K7Y8;Q96GX1	.;TECT2_HUMAN	V	221;222	ENSP00000395171:G221V;ENSP00000304941:G222V	ENSP00000304941:G222V	G	+	2	0	TCTN2	122737436	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.306000	0.33505	-0.914000	0.03827	-0.842000	0.03052	GGG		0.527	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400652.1	NM_024809		9	277	9	277	---	---	---	---
FLT3	2322	broad.mit.edu	37	13	28610092	28610092	+	Silent	SNP	C	C	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000241453.7	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000380982.4_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4				Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1396-1398)aaG>aaA		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						216.0	214.0	215.0					13																	28610092		2203	4300	6503	SO:0001819	synonymous_variant	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28610092C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1398G>A	13.37:g.28610092C>T			Somatic				FLT3_ENST00000537084.1_Silent_p.K466K|FLT3_ENST00000241453.7_Silent_p.K466K	p.K466K			WXS	Illumina GAIIx	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	11	1479	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	466					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Silent	SNP	ENST00000241453.7	37	c.1398G>A	CCDS31953.1																																																																																				0.423	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			8	296	8	296	---	---	---	---
PAN3	255967	broad.mit.edu	37	13	28840863	28840863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28840863G>T	ENST00000380958.3	+	10	1575	c.1423G>T	c.(1423-1425)Gag>Tag	p.E475*	PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000399613.1_Nonsense_Mutation_p.E275*	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGTTCCTACAGAGGTTGACAG	0.358																																						ENST00000399613.1																			0				endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(823-825)Gag>Tag		PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							107.0	109.0	108.0					13																	28840863		2203	4300	6503	SO:0001587	stop_gained	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28840863G>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.1423G>T	13.37:g.28840863G>T	ENSP00000370345:p.Glu475*		Somatic				PAN3_ENST00000282391.5_Nonsense_Mutation_p.E163*|PAN3_ENST00000380958.3_Nonsense_Mutation_p.E475*	p.E275*			WXS	Illumina GAIIx	Phase_I	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	9	886	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	475			Interaction with polyadenylate-binding protein.			Nonsense_Mutation	SNP	ENST00000380958.3	37	c.823G>T	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	G	37	6.053258	0.97241	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	.	.	.	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-17.2065	19.1991	0.93704	0.0:0.0:1.0:0.0	.	.	.	.	X	475;275;163	.	ENSP00000282391:E163X	E	+	1	0	PAN3	27738863	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	9.804000	0.99143	2.529000	0.85273	0.650000	0.86243	GAG		0.358	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		8	224	8	224	---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36396952	36396952	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:36396952C>A	ENST00000360631.3	-	11	1679	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	DCLK1_ENST00000255448.4_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	490	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACAGCATCCCACTGGCGTCT	0.493																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1468-1470)Ggg>Tgg		doublecortin-like kinase 1							224.0	189.0	201.0					13																	36396952		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36396952C>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1468G>T	13.37:g.36396952C>A	ENSP00000353846:p.Gly490Trp		Somatic				DCLK1_ENST00000360631.3_Missense_Mutation_p.G490W|DCLK1_ENST00000379893.1_Missense_Mutation_p.G183W	p.G490W	NM_004734.4	NP_004725.1	WXS	Illumina GAIIx	Phase_I	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	11	1679	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	490			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.1468G>T		.	.	.	.	.	.	.	.	.	.	C	19.48	3.834947	0.71373	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893	T;T;T	0.65549	-0.16;-0.16;-0.16	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	N	0.26042	0.785	0.80722	D	1	D;D;D	0.61697	0.966;0.99;0.98	P;P;P	0.58013	0.753;0.831;0.753	T	0.66881	-0.5811	10	0.48119	T	0.1	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	183;490;183	O15075-4;O15075-2;O15075-3	.;.;.	W	182;490;490;183	ENSP00000255448:G490W;ENSP00000353846:G490W;ENSP00000369223:G183W	ENSP00000255448:G490W	G	-	1	0	DCLK1	35294952	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.065000	0.71176	2.779000	0.95612	0.655000	0.94253	GGG		0.493	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		8	125	8	125	---	---	---	---
UTP14C	9724	broad.mit.edu	37	13	52603844	52603844	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:52603844G>T	ENST00000521776.2	+	2	1637	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	302					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|rRNA processing (GO:0006364)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		CCAAAACAGTGGGAAATGGGC	0.443																																						ENST00000521776.2																			0				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(904-906)Ggg>Tgg		UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)							140.0	143.0	142.0					13																	52603844		2203	4300	6503	SO:0001583	missense	9724				cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome		g.chr13:52603844G>T	D87455	CCDS31978.1	13q12.2-q13.3	2010-11-23	2004-06-15	2004-06-16	ENSG00000253797	ENSG00000253797			20321	protein-coding gene	gene with protein product		608969	"""KIAA0266"""	KIAA0266		9039502, 16354793	Standard	NM_021645		Approved	2700066J21Rik	uc021rjw.1	Q5TAP6	OTTHUMG00000164353	ENST00000521776.2:c.904G>T	13.37:g.52603844G>T	ENSP00000428619:p.Gly302Trp		Somatic					p.G302W	NM_021645.5	NP_067677.4	WXS	Illumina GAIIx	Phase_I	Q5TAP6	UT14C_HUMAN		GBM - Glioblastoma multiforme(99;2.3e-08)	2	1637	+		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	302					Q5FWG3|Q92555	Missense_Mutation	SNP	ENST00000521776.2	37	c.904G>T	CCDS31978.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187986	0.57909	.	.	ENSG00000253797	ENST00000521776	T	0.24151	1.87	2.58	2.58	0.30949	.	0.045227	0.85682	D	0.000000	T	0.55305	0.1912	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64635	-0.6361	9	.	.	.	-31.1538	10.8649	0.46849	0.0:0.0:1.0:0.0	.	302	Q5TAP6	UT14C_HUMAN	W	302	ENSP00000428619:G302W	.	G	+	1	0	UTP14C	51501845	1.000000	0.71417	0.938000	0.37757	0.879000	0.50718	3.428000	0.52792	1.460000	0.47911	0.448000	0.29417	GGG		0.443	UTP14C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045049.2	NM_021645		6	120	6	120	---	---	---	---
SUGT1	10910	broad.mit.edu	37	13	53227224	53227224	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:53227224C>A	ENST00000343788.6	+	2	164	c.82C>A	c.(82-84)Cag>Aag	p.Q28K	SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000310528.8_Missense_Mutation_p.Q28K	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	28					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		CGAGGACCCCCAGGCGGCGTT	0.582											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000310528.8																			0				kidney(3)|large_intestine(3)|lung(2)	8						c.(82-84)Cag>Aag		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							108.0	117.0	114.0					13																	53227224		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53227224C>A	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.82C>A	13.37:g.53227224C>A	ENSP00000367208:p.Gln28Lys		Somatic	OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q28K	p.Q28K			WXS	Illumina GAIIx	Phase_I	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	2	137	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)						A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.82C>A	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098708	0.37048	.	.	ENSG00000165416	ENST00000343788;ENST00000310528	T;T	0.57595	0.39;0.39	3.16	2.26	0.28386	Tetratricopeptide-like helical (1);	0.488364	0.20836	N	0.084792	T	0.30978	0.0782	N	0.17838	0.53	0.80722	D	1	B;B	0.23990	0.095;0.007	B;B	0.20955	0.032;0.005	T	0.04991	-1.0913	10	0.18710	T	0.47	-4.0273	7.3415	0.26640	0.2614:0.7386:0.0:0.0	.	28;28	Q9Y2Z0;Q9Y2Z0-2	SUGT1_HUMAN;.	K	28	ENSP00000367208:Q28K;ENSP00000308067:Q28K	ENSP00000308067:Q28K	Q	+	1	0	SUGT1	52125225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.938000	0.40203	0.827000	0.34685	0.467000	0.42956	CAG		0.582	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2			6	180	6	180	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76415828	76415828	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:76415828G>T	ENST00000321797.8	+	22	3762	c.3041G>T	c.(3040-3042)tGg>tTg	p.W1014L	LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000357063.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L|LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L			Q8WWI1	LMO7_HUMAN	LIM domain 7	1299					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTGCCACCTGGGAAGCTACC	0.507																																						ENST00000357063.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(3895-3897)tGg>tTg		LIM domain 7							93.0	94.0	94.0					13																	76415828		2203	4300	6503	SO:0001583	missense	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76415828G>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3041G>T	13.37:g.76415828G>T	ENSP00000317802:p.Trp1014Leu		Somatic				LMO7_ENST00000465261.2_Missense_Mutation_p.W1014L|LMO7_ENST00000377534.3_Missense_Mutation_p.W1299L|LMO7_ENST00000341547.4_Missense_Mutation_p.W965L|LMO7_ENST00000321797.8_Missense_Mutation_p.W1014L|LMO7_ENST00000526202.1_Missense_Mutation_p.W891L	p.W1299L			WXS	Illumina GAIIx	Phase_I	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	25	5156	+		Breast(118;0.0992)	1299					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.3896G>T		.	.	.	.	.	.	.	.	.	.	G	10.22	1.291537	0.23564	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	T;T;T;T;T;T;T	0.42513	1.55;1.55;1.54;0.97;0.99;0.99;0.98	5.7	3.81	0.43845	.	0.596299	0.20302	N	0.095002	T	0.39384	0.1076	M	0.63843	1.955	0.26570	N	0.973586	B;B;B;B;B	0.09022	0.001;0.002;0.002;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.004;0.003;0.002;0.006	T	0.25813	-1.0121	10	0.27785	T	0.31	-2.5371	11.8072	0.52163	0.0:0.0:0.6509:0.3491	.	891;965;1299;1014;1247	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5	.;.;LMO7_HUMAN;.;.	L	965;1299;1299;913;1014;891;1014	ENSP00000342112:W965L;ENSP00000349571:W1299L;ENSP00000366757:W1299L;ENSP00000366719:W913L;ENSP00000317802:W1014L;ENSP00000431129:W891L;ENSP00000433352:W1014L	ENSP00000317802:W1014L	W	+	2	0	LMO7	75313829	0.997000	0.39634	0.868000	0.34077	0.177000	0.22998	1.319000	0.33655	1.339000	0.45563	0.655000	0.94253	TGG		0.507	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358		6	151	6	151	---	---	---	---
OR11H4	390442	broad.mit.edu	37	14	20711366	20711366	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20711366C>A	ENST00000315409.2	+	1	469	c.416C>A	c.(415-417)cCa>cAa	p.P139Q		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATCTGCCACCCACTGCAGTAC	0.463																																						ENST00000315409.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(415-417)cCa>cAa		olfactory receptor, family 11, subfamily H, member 4							154.0	147.0	149.0					14																	20711366		2203	4300	6503	SO:0001583	missense	390442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20711366C>A		CCDS32034.1	14q11.2	2013-09-24			ENSG00000176198	ENSG00000176198		"""GPCR / Class A : Olfactory receptors"""	15347	protein-coding gene	gene with protein product							Standard	NM_001004479		Approved		uc010tld.2	Q8NGC9	OTTHUMG00000170852	ENST00000315409.2:c.416C>A	14.37:g.20711366C>A	ENSP00000318997:p.Pro139Gln		Somatic					p.P139Q	NM_001004479.1	NP_001004479.1	WXS	Illumina GAIIx	Phase_I	Q8NGC9	O11H4_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)	1	469	+	all_cancers(95;0.000888)		139					B2RNQ4|Q6IF07	Missense_Mutation	SNP	ENST00000315409.2	37	c.416C>A	CCDS32034.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032050	0.75504	.	.	ENSG00000176198	ENST00000315409	T	0.01902	4.57	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.24353	0.0590	H	0.98426	4.23	0.47476	D	0.999436	D	0.89917	1.0	D	0.91635	0.999	T	0.46233	-0.9206	10	0.87932	D	0	-8.8066	15.2747	0.73732	0.0:1.0:0.0:0.0	.	139	Q8NGC9	O11H4_HUMAN	Q	139	ENSP00000318997:P139Q	ENSP00000318997:P139Q	P	+	2	0	OR11H4	19781206	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.511000	0.81718	2.465000	0.83290	0.650000	0.86243	CCA		0.463	OR11H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410678.1			6	113	6	113	---	---	---	---
TTC5	91875	broad.mit.edu	37	14	20764556	20764556	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20764556C>A	ENST00000258821.3	-	6	745	c.689G>T	c.(688-690)aGg>aTg	p.R230M		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	230					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TACCGTCGCCCTGTTCAGATG	0.423																																						ENST00000258821.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15						c.(688-690)aGg>aTg		tetratricopeptide repeat domain 5							235.0	225.0	228.0					14																	20764556		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20764556C>A	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.689G>T	14.37:g.20764556C>A	ENSP00000258821:p.Arg230Met		Somatic					p.R230M	NM_138376.2	NP_612385.2	WXS	Illumina GAIIx	Phase_I	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	6	745	-	all_cancers(95;0.00092)		230					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.689G>T	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.634778|4.634778	0.87760|0.87760	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000423949|ENST00000258821	.|T	.|0.75704	.|-0.96	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84215|0.84215	0.5423|0.5423	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999997|0.999997	.|D	.|0.69078	.|0.997	.|D	.|0.68483	.|0.958	D|D	0.85230|0.85230	0.1032|0.1032	5|10	.|0.72032	.|D	.|0.01	.|.	17.7907|17.7907	0.88551|0.88551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|230	.|Q8N0Z6	.|TTC5_HUMAN	H|M	174|230	.|ENSP00000258821:R230M	.|ENSP00000258821:R230M	Q|R	-|-	3|2	2|0	TTC5|TTC5	19834396|19834396	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.622000|5.622000	0.67750|0.67750	2.809000|2.809000	0.96659|0.96659	0.655000|0.655000	0.94253|0.94253	CAG|AGG		0.423	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		8	250	8	250	---	---	---	---
APEX1	328	broad.mit.edu	37	14	20922784	20922784	+	5'Flank	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:20922784C>A	ENST00000216714.3	+	0	0				APEX1_ENST00000398030.4_5'Flank|APEX1_ENST00000555414.1_5'Flank|OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.R20L|RP11-203M5.7_ENST00000555435.1_RNA	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CTTGCCATCCCGCACCACGCC	0.632								Other BER factors																														ENST00000206542.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(58-60)cGg>cTg		O-sialoglycoprotein endopeptidase							69.0	71.0	70.0					14																	20922784		2203	4298	6501	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922784C>A	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922784C>A	Exception_encountered		Somatic				OSGEP_ENST00000556252.1_5'UTR	p.R20L	NM_017807.3	NP_060277.1	WXS	Illumina GAIIx	Phase_I	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	1	480	-	all_cancers(95;0.00123)	all_lung(585;0.235)	20					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.59G>T	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223643	0.58668	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.47177	2.33;0.85	5.51	5.51	0.81932	.	0.172195	0.50627	D	0.000116	T	0.45577	0.1349	M	0.64567	1.98	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.39881	-0.9592	10	0.56958	D	0.05	-23.0229	11.7136	0.51639	0.0:0.9192:0.0:0.0808	.	20	Q9NPF4	OSGEP_HUMAN	L	20	ENSP00000206542:R20L;ENSP00000450507:R20L	ENSP00000206542:R20L	R	-	2	0	OSGEP	19992624	0.972000	0.33761	1.000000	0.80357	0.958000	0.62258	1.893000	0.39758	2.873000	0.98535	0.561000	0.74099	CGG		0.632	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641		5	127	5	127	---	---	---	---
RNASE2	6036	broad.mit.edu	37	14	21424072	21424072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21424072C>A	ENST00000304625.2	+	2	232	c.142C>A	c.(142-144)Cag>Aag	p.Q48K		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	48					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TATGACCTCCCAGCAATGCAC	0.443																																						ENST00000304625.2																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(142-144)Cag>Aag		ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)							83.0	75.0	78.0					14																	21424072		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424072C>A	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.142C>A	14.37:g.21424072C>A	ENSP00000303276:p.Gln48Lys		Somatic					p.Q48K	NM_002934.2	NP_002925.1	WXS	Illumina GAIIx	Phase_I	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	2	232	+	all_cancers(95;0.00381)		48					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.142C>A	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.231647	0.00280	.	.	ENSG00000169385	ENST00000304625	T	0.72835	-0.69	2.78	-5.55	0.02536	Ribonuclease A, domain (4);	1.778880	0.03502	U	0.218217	T	0.54351	0.1853	N	0.20986	0.625	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.46400	-0.9194	10	0.56958	D	0.05	.	7.3486	0.26678	0.3523:0.2898:0.3578:0.0	.	48	P10153	RNAS2_HUMAN	K	48	ENSP00000303276:Q48K	ENSP00000303276:Q48K	Q	+	1	0	RNASE2	20493912	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.147000	0.00147	-2.150000	0.00796	-2.039000	0.00418	CAG		0.443	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2			6	65	6	65	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23872637	23872637	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:23872637C>A	ENST00000356287.3	-	9	847	c.818G>T	c.(817-819)cGg>cTg	p.R273L	MYH6_ENST00000405093.3_Missense_Mutation_p.R273L			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	273	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GAAGATCACCCGGGACTTCTC	0.572																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(817-819)cGg>cTg		myosin, heavy chain 6, cardiac muscle, alpha							102.0	109.0	107.0					14																	23872637		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23872637C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.818G>T	14.37:g.23872637C>A	ENSP00000348634:p.Arg273Leu		Somatic				MYH6_ENST00000356287.3_Missense_Mutation_p.R273L	p.R273L	NM_002471.3	NP_002462.2	WXS	Illumina GAIIx	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	10	888	-	all_cancers(95;2.54e-05)		273			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.818G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	15.82	2.946838	0.53186	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.96885	-4.16;-4.16	3.74	3.74	0.42951	Myosin head, motor domain (2);	.	.	.	.	D	0.99149	0.9706	H	0.99981	5.195	0.58432	D	0.999999	P;P	0.44776	0.843;0.843	P;P	0.60473	0.875;0.875	D	0.98143	1.0437	9	0.87932	D	0	.	15.4979	0.75669	0.0:1.0:0.0:0.0	.	273;273	D9YZU2;P13533	.;MYH6_HUMAN	L	273	ENSP00000386041:R273L;ENSP00000348634:R273L	ENSP00000348634:R273L	R	-	2	0	MYH6	22942477	0.998000	0.40836	0.997000	0.53966	0.011000	0.07611	7.426000	0.80270	1.808000	0.52836	0.462000	0.41574	CGG		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			5	172	5	172	---	---	---	---
PSME2	5721	broad.mit.edu	37	14	24614267	24614267	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24614267C>A	ENST00000216802.5	-	6	999	c.360G>T	c.(358-360)ctG>ctT	p.L120L	PSME2_ENST00000560410.1_Splice_Site_p.L109L|RNF31_ENST00000559275.1_5'Flank|RNF31_ENST00000324103.6_5'Flank|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	120					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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 cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CCAGGCTTACCAGAATGCATT	0.502																																						ENST00000216802.5																			0				endometrium(1)|lung(3)|prostate(2)	6						c.(358-360)ctG>ctT		proteasome (prosome, macropain) activator subunit 2 (PA28 beta)							149.0	154.0	152.0					14																	24614267		2203	4300	6503	SO:0001630	splice_region_variant	5721				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex		g.chr14:24614267C>A		CCDS9614.1	14q11.2	2010-03-10			ENSG00000100911	ENSG00000100911		"""Proteasome (prosome, macropain) subunits"""	9569	protein-coding gene	gene with protein product		602161				7789512	Standard	NM_002818		Approved	PA28beta	uc001wmj.3	Q9UL46	OTTHUMG00000028797	ENST00000216802.5:c.360+1G>T	14.37:g.24614267C>A			Somatic				PSME2_ENST00000471700.2_5'UTR|PSME2_ENST00000560410.1_Splice_Site_p.L109L	p.L120L	NM_002818.2	NP_002809.2	WXS	Illumina GAIIx	Phase_I	Q9UL46	PSME2_HUMAN		GBM - Glioblastoma multiforme(265;0.00839)	6	999	-			120					Q15129	Splice_Site	SNP	ENST00000216802.5	37	c.360G>T	CCDS9614.1																																																																																				0.502	PSME2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071918.3	NM_002818	Silent	7	239	7	239	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24731088	24731088	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24731088C>A	ENST00000206765.6	-	3	444	c.321G>T	c.(319-321)gaG>gaT	p.E107D	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	107					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTAGCATGCCCTCTGCAAGGA	0.577																																						ENST00000206765.6																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24						c.(319-321)gaG>gaT		transglutaminase 1	L-Glutamine(DB00130)						91.0	84.0	86.0					14																	24731088		2203	4300	6503	SO:0001630	splice_region_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24731088C>A	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.320-1G>T	14.37:g.24731088C>A			Somatic				TGM1_ENST00000544573.1_Intron	p.E107D	NM_000359.2	NP_000350.1	WXS	Illumina GAIIx	Phase_I	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	3	444	-			107					B4DWR7|Q197M4	Splice_Site	SNP	ENST00000206765.6	37	c.321G>T	CCDS9622.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.908607	0.33721	.	.	ENSG00000092295	ENST00000206765	D	0.86366	-2.11	5.29	2.04	0.26737	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.239499	0.41938	D	0.000798	T	0.68869	0.3048	N	0.12182	0.205	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.53669	-0.8406	10	0.10377	T	0.69	.	5.3959	0.16268	0.3286:0.4987:0.0:0.1726	.	107	P22735	TGM1_HUMAN	D	107	ENSP00000206765:E107D	ENSP00000206765:E107D	E	-	3	2	TGM1	23800928	0.000000	0.05858	1.000000	0.80357	0.827000	0.46813	-0.594000	0.05733	0.570000	0.29347	0.561000	0.74099	GAG		0.577	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359	Missense_Mutation	5	81	5	81	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24838791	24838791	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:24838791C>A	ENST00000250373.4	+	2	328	c.187C>A	c.(187-189)Cga>Aga	p.R63R	NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000413692.2_Silent_p.R126R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000422617.3_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000556279.1_Silent_p.R95R	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	63	Pro-rich.				cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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 negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CGGTATTCCCCGACCTCCACC	0.677																																						ENST00000413692.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34						c.(376-378)Cga>Aga		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4							82.0	92.0	88.0					14																	24838791		2203	4300	6503	SO:0001819	synonymous_variant	4776				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:24838791C>A	BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351	ENST00000250373.4:c.187C>A	14.37:g.24838791C>A			Somatic				NFATC4_ENST00000555453.1_Silent_p.R51R|NFATC4_ENST00000424781.2_Silent_p.R76R|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000553469.1_Silent_p.R95R|NFATC4_ENST00000553879.1_5'UTR|NFATC4_ENST00000554591.1_Silent_p.R126R|NFATC4_ENST00000556279.1_Silent_p.R95R|NFATC4_ENST00000539237.2_Silent_p.R95R|NFATC4_ENST00000554344.1_5'UTR|NFATC4_ENST00000556169.1_Silent_p.R51R|NFATC4_ENST00000553708.1_Silent_p.R63R|NFATC4_ENST00000554966.1_Silent_p.R76R|NFATC4_ENST00000555590.1_Silent_p.R76R|NFATC4_ENST00000554661.1_5'UTR|NFATC4_ENST00000557451.1_5'UTR|NFATC4_ENST00000554050.1_Silent_p.R63R|NFATC4_ENST00000250373.4_Silent_p.R63R|NFATC4_ENST00000422617.3_Silent_p.R51R	p.R126R	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	WXS	Illumina GAIIx	Phase_I	Q14934	NFAC4_HUMAN		GBM - Glioblastoma multiforme(265;0.018)	3	520	+			63			Pro-rich.		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Silent	SNP	ENST00000250373.4	37	c.376C>A	CCDS9629.1																																																																																				0.677	NFATC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073206.6	NM_004554		5	178	5	178	---	---	---	---
EAPP	55837	broad.mit.edu	37	14	34985607	34985607	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:34985607G>T	ENST00000250454.3	-	6	848	c.767C>A	c.(766-768)cCa>cAa	p.P256Q		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	256					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		GCACATGACTGGGTGATAGAT	0.453																																						ENST00000250454.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(766-768)cCa>cAa		E2F-associated phosphoprotein							222.0	217.0	219.0					14																	34985607		1987	4159	6146	SO:0001583	missense	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:34985607G>T	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.767C>A	14.37:g.34985607G>T	ENSP00000250454:p.Pro256Gln		Somatic					p.P256Q	NM_018453.3	NP_060923.2	WXS	Illumina GAIIx	Phase_I	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	6	848	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		256					Q9BVF4|Q9NWV5|Q9NZ86	Missense_Mutation	SNP	ENST00000250454.3	37	c.767C>A	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719760	0.89205	.	.	ENSG00000129518	ENST00000250454	T	0.43688	0.94	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.68915	0.3053	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72360	-0.4317	10	0.87932	D	0	-11.2531	19.6472	0.95784	0.0:0.0:1.0:0.0	.	256	Q56P03	EAPP_HUMAN	Q	256	ENSP00000250454:P256Q	ENSP00000250454:P256Q	P	-	2	0	EAPP	34055358	1.000000	0.71417	0.970000	0.41538	0.940000	0.58332	8.649000	0.91067	2.720000	0.93068	0.650000	0.86243	CCA		0.453	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453		7	226	7	226	---	---	---	---
KLHDC1	122773	broad.mit.edu	37	14	50199529	50199529	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:50199529C>A	ENST00000359332.2	+	9	908	c.818C>A	c.(817-819)cCa>cAa	p.P273Q	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	273						cytoplasm (GO:0005737)				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GATAATATCCCATTAAGTAAG	0.313																																						ENST00000359332.2																			0				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12						c.(817-819)cCa>cAa		kelch domain containing 1							89.0	86.0	87.0					14																	50199529		2203	4299	6502	SO:0001583	missense	122773					cytoplasm		g.chr14:50199529C>A	AF111806	CCDS9692.1	14q21.3	2007-08-01			ENSG00000197776	ENSG00000197776			19836	protein-coding gene	gene with protein product		611281					Standard	NM_172193		Approved	MST025	uc001www.3	Q8N7A1	OTTHUMG00000140295	ENST00000359332.2:c.818C>A	14.37:g.50199529C>A	ENSP00000352282:p.Pro273Gln		Somatic				KLHDC1_ENST00000554512.1_3'UTR	p.P273Q	NM_172193.2	NP_751943.1	WXS	Illumina GAIIx	Phase_I	Q8N7A1	KLDC1_HUMAN			9	908	+	all_epithelial(31;0.00244)|Breast(41;0.00964)		273					B3KXD9|Q8WYI1	Missense_Mutation	SNP	ENST00000359332.2	37	c.818C>A	CCDS9692.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170319	0.78452	.	.	ENSG00000197776	ENST00000359332;ENST00000557128	T;T	0.65732	-0.17;-0.17	5.8	5.8	0.92144	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79076	0.4385	M	0.70275	2.135	0.49213	D	0.999768	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.74325	-0.3702	10	0.29301	T	0.29	-10.0669	20.0503	0.97624	0.0:1.0:0.0:0.0	.	144;273	G3V3T1;Q8N7A1	.;KLDC1_HUMAN	Q	273;144	ENSP00000352282:P273Q;ENSP00000451407:P144Q	ENSP00000352282:P273Q	P	+	2	0	KLHDC1	49269279	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.146000	0.64845	2.736000	0.93811	0.591000	0.81541	CCA		0.313	KLHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276882.2	NM_172193		4	40	4	40	---	---	---	---
YLPM1	56252	broad.mit.edu	37	14	75230236	75230236	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:75230236C>A	ENST00000552421.1	+	1	168	c.44C>A	c.(43-45)cCg>cAg	p.P15Q	YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q|YLPM1_ENST00000325680.7_Missense_Mutation_p.P15Q			P49750	YLPM1_HUMAN	YLP motif containing 1	15	Pro-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		AGCCACTATCCGCCGCCACCG	0.701																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(43-45)cCg>cAg		YLP motif containing 1							7.0	11.0	10.0					14																	75230236		1300	3256	4556	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75230236C>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.44C>A	14.37:g.75230236C>A	ENSP00000447921:p.Pro15Gln		Somatic				YLPM1_ENST00000552421.1_Missense_Mutation_p.P15Q|YLPM1_ENST00000238571.3_Missense_Mutation_p.P15Q	p.P15Q	NM_019589.2	NP_062535.2	WXS	Illumina GAIIx	Phase_I	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	1	168	+			15			Pro-rich.		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.44C>A		.	.	.	.	.	.	.	.	.	.	C	10.72	1.430406	0.25726	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571	T;T;T	0.20881	2.04;2.04;2.04	4.6	3.67	0.42095	.	0.120313	0.37053	N	0.002265	T	0.21509	0.0518	N	0.14661	0.345	0.26269	N	0.978456	D	0.54964	0.969	P	0.59288	0.855	T	0.02533	-1.1145	10	0.87932	D	0	-1.4114	7.5653	0.27874	0.0:0.7879:0.0:0.2121	.	15	P49750-4	.	Q	15	ENSP00000447921:P15Q;ENSP00000324463:P15Q;ENSP00000238571:P15Q	ENSP00000238571:P15Q	P	+	2	0	YLPM1	74299989	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.166000	0.31834	1.210000	0.43336	0.655000	0.94253	CCG		0.701	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		3	21	3	21	---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77751965	77751965	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:77751965C>A	ENST00000261534.4	-	13	1545	c.1343G>T	c.(1342-1344)gGg>gTg	p.G448V		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	448	MIR 2. {ECO:0000255|PROSITE- ProRule:PRU00131}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|metal ion binding (GO:0046872)	p.G448V(1)		breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		ATTTGAGTCCCCTGTTCCATT	0.438																																						ENST00000261534.4																			1	Substitution - Missense(1)	p.G448V(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(1342-1344)gGg>gTg		protein-O-mannosyltransferase 2							261.0	299.0	286.0					14																	77751965		2203	4300	6503	SO:0001583	missense	29954				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding	g.chr14:77751965C>A	AF105020	CCDS9857.1	14q24	2014-09-17			ENSG00000009830	ENSG00000009830	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19743	protein-coding gene	gene with protein product		607439				11162531, 12460945	Standard	NM_013382		Approved	LGMD2N	uc001xti.2	Q9UKY4	OTTHUMG00000171556	ENST00000261534.4:c.1343G>T	14.37:g.77751965C>A	ENSP00000261534:p.Gly448Val		Somatic					p.G448V	NM_013382.5	NP_037514.2	WXS	Illumina GAIIx	Phase_I	Q9UKY4	POMT2_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)	13	1545	-			448			MIR 2.		Q9NSG6|Q9P1W0|Q9P1W2	Missense_Mutation	SNP	ENST00000261534.4	37	c.1343G>T	CCDS9857.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.955727	0.92726	.	.	ENSG00000009830	ENST00000261534	D	0.88509	-2.39	5.55	5.55	0.83447	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.96078	0.8722	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96213	0.9154	10	0.62326	D	0.03	-13.642	19.8667	0.96806	0.0:1.0:0.0:0.0	.	448	Q9UKY4	POMT2_HUMAN	V	448	ENSP00000261534:G448V	ENSP00000261534:G448V	G	-	2	0	POMT2	76821718	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.421000	0.80204	2.773000	0.95371	0.655000	0.94253	GGG		0.438	POMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414155.1	NM_013382		11	659	11	659	---	---	---	---
GTF2A1	2957	broad.mit.edu	37	14	81658967	81658967	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:81658967C>A	ENST00000553612.1	-	7	1232	c.829G>T	c.(829-831)Ggg>Tgg	p.G277W	GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	277					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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GATGTATCCCCAGTTCCATCA	0.483																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(829-831)Ggg>Tgg		general transcription factor IIA, 1, 19/37kDa							133.0	119.0	124.0					14																	81658967		2203	4300	6503	SO:0001583	missense	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81658967C>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.829G>T	14.37:g.81658967C>A	ENSP00000452454:p.Gly277Trp		Somatic				GTF2A1_ENST00000434192.2_Missense_Mutation_p.G238W	p.G277W	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	WXS	Illumina GAIIx	Phase_I	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	7	1232	-			277					Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	c.829G>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275627	0.80580	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.17691	2.26;2.26	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.47377	0.1442	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50276	-0.8847	10	0.72032	D	0.01	-7.2846	19.2442	0.93895	0.0:1.0:0.0:0.0	.	277	P52655	TF2AA_HUMAN	W	277;238;238	ENSP00000452454:G277W;ENSP00000409492:G238W	ENSP00000298173:G277W	G	-	1	0	GTF2A1	80728720	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.369000	0.73109	2.614000	0.88457	0.561000	0.74099	GGG		0.483	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		8	130	8	130	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419316	105419316	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:105419316C>A	ENST00000333244.5	-	7	2591	c.2472G>T	c.(2470-2472)aaG>aaT	p.K824N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	824						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACCTCCTTGTCGGCCA	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2470-2472)aaG>aaT		AHNAK nucleoprotein 2							225.0	247.0	240.0					14																	105419316		1949	4150	6099	SO:0001583	missense	113146					nucleus		g.chr14:105419316C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2472G>T	14.37:g.105419316C>A	ENSP00000353114:p.Lys824Asn		Somatic				AHNAK2_ENST00000557457.1_Intron	p.K824N	NM_138420.2	NP_612429.2	WXS	Illumina GAIIx	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2591	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	824					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2472G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.120718	0.37436	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	3.46	1.54	0.23209	.	.	.	.	.	T	0.02230	0.0069	M	0.85945	2.785	0.09310	N	1	P	0.51057	0.941	P	0.51657	0.676	T	0.40534	-0.9558	9	0.17832	T	0.49	.	7.4273	0.27107	0.0:0.6036:0.0:0.3964	.	824	Q8IVF2	AHNK2_HUMAN	N	824	ENSP00000353114:K824N	ENSP00000353114:K824N	K	-	3	2	AHNAK2	104490361	0.000000	0.05858	0.012000	0.15200	0.014000	0.08584	-0.415000	0.07106	0.002000	0.14630	0.491000	0.48974	AAG		0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		9	377	9	377	---	---	---	---
IGHG2	3501	broad.mit.edu	37	14	106109863	106109863	+	RNA	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:106109863C>A	ENST00000390545.2	-	0	658							P01859	IGHG2_HUMAN	immunoglobulin heavy constant gamma 2 (G2m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										CGGGGCTGCCCTGTAGGGACA	0.652																																						ENST00000390545.2																			0																				94.0	106.0	102.0					14																	106109863		1965	4141	6106			3501							g.chr14:106109863C>A	J00230		14q32.33	2012-10-02			ENSG00000211893	ENSG00000211893		"""Immunoglobulins / IGH locus"""	5526	other	immunoglobulin gene		147110					Standard	NG_001019		Approved			P01859	OTTHUMG00000152482		14.37:g.106109863C>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	658	-								A6NE66	RNA	SNP	ENST00000390545.2	37																																																																																						0.652	IGHG2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326391.1	NG_001019		8	339	8	339	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25438468	25438468	+	RNA	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:25438468G>T	ENST00000424208.1	+	0	1327				SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-12_ENST00000362583.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GCCCTGAGTTGGGTCGATGAT	0.527																																						ENST00000424208.1																			0																				347.0	349.0	349.0					15																	25438468		876	1991	2867			104472715							g.chr15:25438468G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438468G>T			Somatic				SNHG14_ENST00000456576.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000363358.1_RNA		NR_003305.1		WXS	Illumina GAIIx	Phase_I					0	1327	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.527	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			7	285	7	285	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28473497	28473497	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:28473497C>A	ENST00000261609.7	-	35	5439	c.5331G>T	c.(5329-5331)ctG>ctT	p.L1777L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGATGGTCCCCAGGCTCGGTC	0.567																																						ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(5329-5331)ctG>ctT		HECT and RLD domain containing E3 ubiquitin protein ligase 2							98.0	77.0	84.0					15																	28473497		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28473497C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.5331G>T	15.37:g.28473497C>A			Somatic					p.L1777L	NM_004667.5	NP_004658.3	WXS	Illumina GAIIx	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	35	5439	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1777						Silent	SNP	ENST00000261609.7	37	c.5331G>T	CCDS10021.1																																																																																				0.567	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	56	5	56	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42107849	42107849	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42107849G>T	ENST00000456763.2	+	13	1559	c.1363G>T	c.(1363-1365)Ggg>Tgg	p.G455W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	455										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTATGTGGATGGGAACACCCA	0.557																																						ENST00000457542.2																			0				breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1345-1347)Ggg>Tgg		mitogen-activated protein kinase binding protein 1							53.0	46.0	48.0					15																	42107849		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42107849G>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1363G>T	15.37:g.42107849G>T	ENSP00000393099:p.Gly455Trp		Somatic				MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G332W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G455W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G449W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G288W	p.G449W	NM_014994.2	NP_055809.2	WXS	Illumina GAIIx	Phase_I	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1631	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	455					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.1345G>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	29.8	5.040530	0.93630	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.40476	1.57;1.57;1.04;1.03;1.12	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.218748	0.47852	D	0.000207	T	0.48314	0.1493	N	0.08118	0	0.43771	D	0.996294	D;D;D;D	0.89917	1.0;0.998;0.994;0.998	D;D;D;D	0.83275	0.996;0.965;0.933;0.955	T	0.59963	-0.7355	10	0.72032	D	0.01	-21.5658	19.8235	0.96607	0.0:0.0:1.0:0.0	.	288;449;455;449	F8WC21;O60336-2;O60336;O60336-6	.;.;MABP1_HUMAN;.	W	449;332;288;455;449	ENSP00000397570:G449W;ENSP00000221214:G332W;ENSP00000260357:G288W;ENSP00000393099:G455W;ENSP00000426154:G449W	ENSP00000221214:G332W	G	+	1	0	MAPKBP1	39895141	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.549000	0.60726	2.696000	0.92011	0.456000	0.33151	GGG		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		4	27	4	27	---	---	---	---
GANC	2595	broad.mit.edu	37	15	42641676	42641676	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:42641676C>A	ENST00000318010.8	+	22	2754	c.2514C>A	c.(2512-2514)tcC>tcA	p.S838S	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	838					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	CATTCTGTTCCAGTGTTCTGA	0.393																																						ENST00000318010.8																			0				breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(2512-2514)tcC>tcA		glucosidase, alpha; neutral C							159.0	151.0	154.0					15																	42641676		2203	4299	6502	SO:0001819	synonymous_variant	2595				carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	g.chr15:42641676C>A	AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2514C>A	15.37:g.42641676C>A			Somatic				CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	p.S838S	NM_198141.2	NP_937784.2	WXS	Illumina GAIIx	Phase_I	Q8TET4	GANC_HUMAN		GBM - Glioblastoma multiforme(94;1.06e-06)	22	2754	+		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)	838					Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Silent	SNP	ENST00000318010.8	37	c.2514C>A	CCDS10084.1																																																																																				0.393	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252887.2	NM_198141		5	119	5	119	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43328436	43328436	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43328436C>A	ENST00000290650.4	-	19	2208	c.2130G>T	c.(2128-2130)ctG>ctT	p.L710L	UBR1_ENST00000382177.2_Silent_p.L710L	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	710					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTGAAGTACCAGTAACAAGA	0.338																																						ENST00000290650.4																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(2128-2130)ctG>ctT		ubiquitin protein ligase E3 component n-recognin 1							152.0	161.0	158.0					15																	43328436		2203	4298	6501	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43328436C>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2130G>T	15.37:g.43328436C>A			Somatic				UBR1_ENST00000382177.2_Silent_p.L710L	p.L710L	NM_174916.2	NP_777576.1	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	19	2208	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	710					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.2130G>T	CCDS10091.1																																																																																				0.338	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		7	300	7	300	---	---	---	---
TP53BP1	7158	broad.mit.edu	37	15	43712632	43712632	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:43712632C>A	ENST00000263801.3	-	21	4789	c.4537G>T	c.(4537-4539)Ggg>Tgg	p.G1513W	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1513	Interaction with dimethylated histone H4.|Tudor-like.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTATACTTCCCAGCTCCGACA	0.483								Other conserved DNA damage response genes																														ENST00000263801.3																			0				breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72						c.(4537-4539)Ggg>Tgg	Other conserved DNA damage response genes	tumor protein p53 binding protein 1							233.0	226.0	229.0					15																	43712632		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43712632C>A	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.4537G>T	15.37:g.43712632C>A	ENSP00000263801:p.Gly1513Trp		Somatic				TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1468W|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1518W|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1518W	p.G1513W	NM_005657.2	NP_005648.1	WXS	Illumina GAIIx	Phase_I	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	21	4789	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1513			Interaction with dimethylated histone H4.		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.4537G>T	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409426	0.62399	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.55	5.55	0.83447	Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.63838	0.2545	N	0.24115	0.695	0.54753	D	0.999987	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.66937	-0.5797	10	0.87932	D	0	-13.041	14.0954	0.65019	0.0:0.9278:0.0:0.0721	.	1518;1513;1518;1518	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	W	1513;1518;1468;1518	ENSP00000263801:G1513W;ENSP00000371475:G1518W;ENSP00000371470:G1468W;ENSP00000393497:G1518W	ENSP00000263801:G1513W	G	-	1	0	TP53BP1	41499924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.623000	0.54224	2.773000	0.95371	0.585000	0.79938	GGG		0.483	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			7	341	7	341	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48717950	48717950	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:48717950C>A	ENST00000316623.5	-	59	7771	c.7316G>T	c.(7315-7317)gGg>gTg	p.G2439V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2439	EGF-like 41; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGAAGTCCCAGTTATATC	0.363																																						ENST00000316623.5																			0				NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139						c.(7315-7317)gGg>gTg		fibrillin 1							136.0	117.0	123.0					15																	48717950		2198	4296	6494	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48717950C>A	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7316G>T	15.37:g.48717950C>A	ENSP00000325527:p.Gly2439Val		Somatic					p.G2439V	NM_000138.4	NP_000129	WXS	Illumina GAIIx	Phase_I	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	59	7771	-		all_lung(180;0.00279)	2439			EGF-like 41; calcium-binding.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.7316G>T	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131273	0.77549	.	.	ENSG00000166147	ENST00000316623	T	0.81247	-1.47	6.08	6.08	0.98989	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.141422	0.64402	D	0.000005	D	0.90477	0.7017	M	0.88450	2.955	0.80722	D	1	P	0.40332	0.713	P	0.53518	0.728	D	0.89791	0.3968	10	0.54805	T	0.06	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	2439	P35555	FBN1_HUMAN	V	2439	ENSP00000325527:G2439V	ENSP00000325527:G2439V	G	-	2	0	FBN1	46505242	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	4.897000	0.63231	2.894000	0.99253	0.591000	0.81541	GGG		0.363	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			6	74	6	74	---	---	---	---
OAZ2	4947	broad.mit.edu	37	15	64982648	64982648	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:64982648C>A	ENST00000326005.6	-	4	510	c.278G>T	c.(277-279)tGg>tTg	p.W93L	OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	93					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	GACTGCATCCCAAGAAGAGAC	0.517																																						ENST00000326005.6																			0											c.(277-279)tGg>tTg		ornithine decarboxylase antizyme 2	L-Ornithine(DB00129)						175.0	169.0	171.0					15																	64982648		1934	4132	6066	SO:0001583	missense	4947				polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding	g.chr15:64982648C>A	AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.278G>T	15.37:g.64982648C>A	ENSP00000463013:p.Trp93Leu		Somatic				OAZ2_ENST00000559753.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.W93L|OAZ2_ENST00000560837.1_5'UTR	p.W93L			WXS	Illumina GAIIx	Phase_I	O95190	OAZ2_HUMAN			4	510	-			93						Missense_Mutation	SNP	ENST00000326005.6	37	c.278G>T	CCDS58372.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240009	0.58995	.	.	ENSG00000180304	ENST00000326005;ENST00000403937	.	.	.	5.84	5.84	0.93424	Acyl-CoA N-acyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	M	0.91090	3.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88434	0.3037	9	0.72032	D	0.01	.	20.1434	0.98067	0.0:1.0:0.0:0.0	.	93	O95190	OAZ2_HUMAN	L	91	.	ENSP00000316264:W91L	W	-	2	0	OAZ2	62769701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.769000	0.95229	0.563000	0.77884	TGG		0.517	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418707.2	NM_002537		7	196	7	196	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65917307	65917307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:65917307G>T	ENST00000261892.6	+	2	1176	c.889G>T	c.(889-891)Ggg>Tgg	p.G297W	SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297W|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297W|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297W|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297W	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	297					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCCCTGGGGGTTAGTGGG	0.537																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(889-891)Ggg>Tgg		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1							90.0	90.0	90.0					15																	65917307		1898	4109	6007	SO:0001583	missense	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65917307G>T	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.889G>T	15.37:g.65917307G>T	ENSP00000261892:p.Gly297Trp		Somatic				SLC24A1_ENST00000339868.6_Missense_Mutation_p.G297W|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G297W|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G297W|SLC24A1_ENST00000544319.2_Missense_Mutation_p.G297W	p.G297W	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	WXS	Illumina GAIIx	Phase_I	O60721	NCKX1_HUMAN			2	1176	+			297					O43485|O75184|Q17RM9	Missense_Mutation	SNP	ENST00000261892.6	37	c.889G>T	CCDS45284.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480038	0.63849	.	.	ENSG00000074621	ENST00000537259;ENST00000261892;ENST00000339868;ENST00000544319;ENST00000399033;ENST00000546330	T;T;T;T;T;T	0.65916	0.06;-0.16;-0.16;-0.18;-0.17;-0.16	5.0	-10.0	0.00425	.	1.988610	0.01902	N	0.039259	T	0.45155	0.1328	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B	0.09022	0.002;0.001;0.001;0.002;0.001	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.004;0.002	T	0.31110	-0.9955	10	0.87932	D	0	.	1.2382	0.01958	0.391:0.108:0.2866:0.2145	.	297;297;297;297;297	O60721-2;Q17RM9;O60721;F5H127;B4E1W0	.;.;NCKX1_HUMAN;.;.	W	297	ENSP00000439693:G297W;ENSP00000261892:G297W;ENSP00000341837:G297W;ENSP00000445163:G297W;ENSP00000381991:G297W;ENSP00000439190:G297W	ENSP00000261892:G297W	G	+	1	0	SLC24A1	63704360	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	-0.667000	0.05274	-2.125000	0.00821	-0.768000	0.03414	GGG		0.537	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		6	122	6	122	---	---	---	---
FEM1B	10116	broad.mit.edu	37	15	68582486	68582486	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:68582486C>A	ENST00000306917.4	+	2	1405	c.790C>A	c.(790-792)Cgt>Agt	p.R264S		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	264					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCAAATGACCGTGAGAACTA	0.418																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(790-792)Cgt>Agt		fem-1 homolog b (C. elegans)							126.0	126.0	126.0					15																	68582486		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582486C>A		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.790C>A	15.37:g.68582486C>A	ENSP00000307298:p.Arg264Ser		Somatic					p.R264S	NM_015322.4	NP_056137.1	WXS	Illumina GAIIx	Phase_I	Q9UK73	FEM1B_HUMAN			2	1405	+			264					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.790C>A	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990107	0.35131	.	.	ENSG00000169018	ENST00000306917	T	0.42513	0.97	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	L	0.56769	1.78	0.80722	D	1	P	0.46220	0.874	B	0.41202	0.35	T	0.30416	-0.9979	10	0.42905	T	0.14	-2.9416	12.5661	0.56310	0.261:0.739:0.0:0.0	.	264	Q9UK73	FEM1B_HUMAN	S	264	ENSP00000307298:R264S	ENSP00000307298:R264S	R	+	1	0	FEM1B	66369540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.489000	0.45285	2.717000	0.92951	0.555000	0.69702	CGT		0.418	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			7	177	7	177	---	---	---	---
PARP6	56965	broad.mit.edu	37	15	72552964	72552964	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:72552964C>A	ENST00000569795.1	-	10	1298	c.611G>T	c.(610-612)cGg>cTg	p.R204L	PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000287196.9_Missense_Mutation_p.R204L			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	204							NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GCGCCCAACCCGAAGCTCTGG	0.532																																						ENST00000569795.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						c.(610-612)cGg>cTg		poly (ADP-ribose) polymerase family, member 6							375.0	366.0	369.0					15																	72552964		1907	4125	6032	SO:0001583	missense	56965						NAD+ ADP-ribosyltransferase activity	g.chr15:72552964C>A	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.611G>T	15.37:g.72552964C>A	ENSP00000456348:p.Arg204Leu		Somatic				PARP6_ENST00000287196.9_Missense_Mutation_p.R204L|PARP6_ENST00000260376.7_Missense_Mutation_p.R204L|PARP6_ENST00000413097.2_5'UTR	p.R204L			WXS	Illumina GAIIx	Phase_I	Q2NL67	PARP6_HUMAN			10	1298	-			204					Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	c.611G>T	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990696	0.54041	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.50446	0.1616	L	0.50333	1.59	0.51482	D	0.999926	P;P;P	0.44090	0.781;0.737;0.826	B;B;B	0.34180	0.134;0.163;0.177	T	0.60131	-0.7323	9	0.59425	D	0.04	-7.3332	17.1418	0.86756	0.0:1.0:0.0:0.0	.	204;204;156	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	L	204;204;204;69;69;204	.	ENSP00000260376:R204L	R	-	2	0	PARP6	70340018	1.000000	0.71417	0.999000	0.59377	0.251000	0.25915	7.376000	0.79658	2.277000	0.76020	0.585000	0.79938	CGG		0.532	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214		8	557	8	557	---	---	---	---
BBS4	585	broad.mit.edu	37	15	73028174	73028174	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:73028174C>A	ENST00000268057.4	+	14	1156	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	372	Required for localization to centrosomes.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						AGGTGTAACCCTTTAGTAAAC	0.463									Bardet-Biedl syndrome																													ENST00000268057.4																			0				autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						c.(1114-1116)cCt>cAt		Bardet-Biedl syndrome 4							157.0	155.0	156.0					15																	73028174		2198	4297	6495	SO:0001583	missense	585	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	g.chr15:73028174C>A	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.1115C>A	15.37:g.73028174C>A	ENSP00000268057:p.Pro372His		Somatic				BBS4_ENST00000395205.2_Missense_Mutation_p.P380H|BBS4_ENST00000539603.1_Missense_Mutation_p.P360H|BBS4_ENST00000542334.1_Missense_Mutation_p.P200H	p.P372H	NM_033028.4	NP_149017.2	WXS	Illumina GAIIx	Phase_I	Q96RK4	BBS4_HUMAN			14	1156	+			372			Required for localization to centrosomes.		B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	c.1115C>A	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308448	0.81247	.	.	ENSG00000140463	ENST00000542334;ENST00000268057;ENST00000539603;ENST00000395205	T;T;T;T	0.78126	0.5;-1.15;-1.15;-1.15	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87229	0.6125	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.992	P;D;P	0.80764	0.847;0.994;0.906	D	0.85468	0.1171	10	0.36615	T	0.2	-15.4101	17.98	0.89138	0.0:1.0:0.0:0.0	.	360;380;372	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	H	200;372;360;380	ENSP00000445964:P200H;ENSP00000268057:P372H;ENSP00000442492:P360H;ENSP00000378631:P380H	ENSP00000268057:P372H	P	+	2	0	BBS4	70815227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.427000	0.80284	2.686000	0.91538	0.650000	0.86243	CCT		0.463	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028		7	232	7	232	---	---	---	---
ARNT2	9915	broad.mit.edu	37	15	80866543	80866543	+	Silent	SNP	A	A	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000303329.4	+	13	1536	c.1371A>T	c.(1369-1371)tcA>tcT	p.S457S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000533983.1_Silent_p.S446S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483																																						ENST00000533983.1																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35						c.(1336-1338)tcA>tcT		aryl-hydrocarbon receptor nuclear translocator 2							183.0	157.0	166.0					15																	80866543		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80866543A>T	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1371A>T	15.37:g.80866543A>T			Somatic				ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S	p.S446S			WXS	Illumina GAIIx	Phase_I	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		14	1677	+			457					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1338A>T	CCDS32307.1																																																																																				0.483	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2			29	58	29	58	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81625417	81625417	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:81625417G>T	ENST00000359440.5	-	22	2781	c.2646C>A	c.(2644-2646)ccC>ccA	p.P882P	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Silent_p.P883P|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGGGGCGTGGGGCCTGGGAC	0.468																																						ENST00000558726.1																			0				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2647-2649)ccC>ccA		transmembrane channel-like 3							107.0	103.0	104.0					15																	81625417		1921	4139	6060	SO:0001819	synonymous_variant	342125					integral to membrane		g.chr15:81625417G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2646C>A	15.37:g.81625417G>T			Somatic				RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000359440.5_Silent_p.P882P	p.P883P			WXS	Illumina GAIIx	Phase_I	Q7Z5M5	TMC3_HUMAN			22	2784	-			882						Silent	SNP	ENST00000359440.5	37	c.2649C>A	CCDS45324.1																																																																																				0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		6	121	6	121	---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83674445	83674445	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:83674445C>A	ENST00000513601.2	-	4	374		c.e4-1		RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site|C15orf40_ENST00000451195.3_Intron			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40											large_intestine(3)|lung(2)|skin(1)	6						ATTTACCACCCTGGACCAAAA	0.393																																						ENST00000304177.5																			0				large_intestine(3)|lung(2)|skin(1)	6						c.e4-1		chromosome 15 open reading frame 40							193.0	212.0	205.0					15																	83674445		2203	4300	6503	SO:0001630	splice_region_variant	123207							g.chr15:83674445C>A	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.367-1G>T	15.37:g.83674445C>A			Somatic				RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000451195.3_Intron|C15orf40_ENST00000513601.2_Splice_Site|C15orf40_ENST00000538348.2_Intron|C15orf40_ENST00000565712.1_Splice_Site		NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	WXS	Illumina GAIIx	Phase_I	Q8WUR7	CO040_HUMAN			4	400	-								A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Splice_Site	SNP	ENST00000513601.2	37		CCDS32312.2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302196	0.81136	.	.	ENSG00000169609	ENST00000304177;ENST00000513601	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4848	0.95025	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C15orf40	81465449	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.509000	0.67012	2.781000	0.95711	0.650000	0.86243	.		0.393	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597	Intron	8	462	8	462	---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:304439C>A	ENST00000399932.3	+	3	478	c.27C>A	c.(25-27)gcC>gcA	p.A9A	ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	9						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				ACTTAGAGGCCGAAATCCACC	0.493											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000399932.3																			0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(25-27)gcC>gcA		integrin alpha FG-GAP repeat containing 3							157.0	161.0	160.0					16																	304439		1906	4121	6027	SO:0001819	synonymous_variant	83986					integral to membrane		g.chr16:304439C>A	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.27C>A	16.37:g.304439C>A			Somatic	OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	587	ITFG3_ENST00000442458.2_Silent_p.A9A|ITFG3_ENST00000301679.2_Silent_p.A9A|ITFG3_ENST00000450082.2_Silent_p.A9A|ITFG3_ENST00000301678.3_Silent_p.A9A|ITFG3_ENST00000600536.1_Silent_p.A9A	p.A9A	NM_001284497.1	NP_001271426.1	WXS	Illumina GAIIx	Phase_I	Q9H0X4	ITFG3_HUMAN			3	478	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	9					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Silent	SNP	ENST00000399932.3	37	c.27C>A	CCDS10402.1																																																																																				0.493	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	NM_032039		5	233	5	233	---	---	---	---
METRN	79006	broad.mit.edu	37	16	767145	767145	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:767145C>A	ENST00000568223.2	+	4	815	c.640C>A	c.(640-642)Cgt>Agt	p.R214S	METRN_ENST00000568415.1_Missense_Mutation_p.R81S	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	214					glial cell differentiation (GO:0010001)|positive regulation of axonogenesis (GO:0050772)	extracellular space (GO:0005615)				skin(1)	1		Hepatocellular(780;0.00335)				GGTGGCCGCCCGTGTCCTCCG	0.662																																						ENST00000568223.2																			0				skin(1)	1						c.(640-642)Cgt>Agt		meteorin, glial cell differentiation regulator							24.0	32.0	29.0					16																	767145		2177	4286	6463	SO:0001583	missense	79006							g.chr16:767145C>A	BC000662	CCDS10422.1	16p13.3	2008-02-05	2004-11-26	2004-12-01	ENSG00000103260	ENSG00000103260			14151	protein-coding gene	gene with protein product		610998	"""chromosome 16 open reading frame 23"""	C16orf23		15085178	Standard	NM_024042		Approved	MGC2601	uc002cjd.3	Q9UJH8	OTTHUMG00000047851	ENST00000568223.2:c.640C>A	16.37:g.767145C>A	ENSP00000455068:p.Arg214Ser		Somatic				METRN_ENST00000568415.1_Missense_Mutation_p.R81S	p.R214S	NM_024042.2	NP_076947.1	WXS	Illumina GAIIx	Phase_I	Q9UJH8	METRN_HUMAN			4	815	+		Hepatocellular(780;0.00335)	214					Q9UJH9	Missense_Mutation	SNP	ENST00000568223.2	37	c.640C>A	CCDS10422.1	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729194	0.69074	.	.	ENSG00000103260	ENST00000219542	.	.	.	4.68	2.68	0.31781	.	0.137438	0.50627	D	0.000113	T	0.53286	0.1787	M	0.79926	2.475	0.29003	N	0.887341	P	0.43701	0.815	P	0.46685	0.524	T	0.55211	-0.8176	9	0.87932	D	0	.	7.6713	0.28460	0.0:0.5986:0.314:0.0874	.	214	Q9UJH8	METRN_HUMAN	S	214	.	ENSP00000219542:R214S	R	+	1	0	METRN	707146	0.092000	0.21681	0.002000	0.10522	0.008000	0.06430	2.294000	0.43567	0.399000	0.25367	-0.259000	0.10710	CGT		0.662	METRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109074.4	NM_024042		3	12	3	12	---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1570280	1570280	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:1570280C>A	ENST00000426508.2	-	28	4088	c.3725G>T	c.(3724-3726)aGg>aTg	p.R1242M	IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1242					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCTTCTGCCTGGACACGCT	0.567																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(3724-3726)aGg>aTg		intraflagellar transport 140 homolog (Chlamydomonas)							148.0	140.0	143.0					16																	1570280		2199	4300	6499	SO:0001583	missense	9742							g.chr16:1570280C>A	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.3725G>T	16.37:g.1570280C>A	ENSP00000406012:p.Arg1242Met		Somatic				IFT140_ENST00000361339.5_Missense_Mutation_p.R436M	p.R1242M	NM_014714.3	NP_055529.2	WXS	Illumina GAIIx	Phase_I	Q96RY7	IF140_HUMAN			28	4088	-		Hepatocellular(780;0.219)	1242					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.3725G>T	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897189	0.52121	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.59772	0.24;0.24	5.98	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.91300	3.195	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.82851	-0.0253	10	0.62326	D	0.03	.	11.6019	0.51008	0.0:0.8074:0.1259:0.0666	.	1242;929	Q96RY7;B4DR58	IF140_HUMAN;.	M	1242;436;1242	ENSP00000354895:R436M;ENSP00000406012:R1242M	ENSP00000354895:R436M	R	-	2	0	IFT140	1510281	0.998000	0.40836	0.827000	0.32855	0.855000	0.48748	4.036000	0.57304	1.542000	0.49330	0.650000	0.86243	AGG		0.567	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		6	153	6	153	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2813480	2813480	+	Missense_Mutation	SNP	C	C	A	rs371454353		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:2813480C>A	ENST00000301740.8	+	11	3500	c.2951C>A	c.(2950-2952)cCg>cAg	p.P984Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	984	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCTGAAACACCGCCAAGACAA	0.488																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(2950-2952)cCg>cAg		serine/arginine repetitive matrix 2							144.0	148.0	147.0					16																	2813480		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2813480C>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2951C>A	16.37:g.2813480C>A	ENSP00000301740:p.Pro984Gln		Somatic					p.P984Q	NM_016333.3	NP_057417.3	WXS	Illumina GAIIx	Phase_I	Q9UQ35	SRRM2_HUMAN			11	3500	+			984			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2951C>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116813	0.37339	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27104	1.69	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000006	T	0.47266	0.1436	L	0.55481	1.735	0.39004	D	0.9594	D	0.89917	1.0	D	0.91635	0.999	T	0.40813	-0.9543	10	0.46703	T	0.11	-12.4838	16.6882	0.85315	0.0:1.0:0.0:0.0	.	984	Q9UQ35	SRRM2_HUMAN	Q	984;984;236;949	ENSP00000301740:P984Q	ENSP00000301740:P984Q	P	+	2	0	SRRM2	2753481	0.493000	0.26035	0.994000	0.49952	0.974000	0.67602	2.925000	0.48884	2.550000	0.86006	0.655000	0.94253	CCG		0.488	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			5	201	5	201	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4829717	4829717	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:4829717C>A	ENST00000268231.8	-	8	1060	c.797G>T	c.(796-798)cGg>cTg	p.R266L	SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	266	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.R266Q(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CTTGGTCTTCCGGCCCAGGAC	0.602																																						ENST00000268231.8																			1	Substitution - Missense(1)	p.R266Q(1)	endometrium(1)	NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						c.(796-798)cGg>cTg		septin 12							121.0	108.0	112.0					16																	4829717		2197	4300	6497	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4829717C>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.797G>T	16.37:g.4829717C>A	ENSP00000268231:p.Arg266Leu		Somatic				SEPT12_ENST00000396693.5_Missense_Mutation_p.R220L	p.R266L	NM_144605.4	NP_653206.2	WXS	Illumina GAIIx	Phase_I	Q8IYM1	SEP12_HUMAN			8	1060	-			266					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.797G>T	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208184	0.95033	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.69561	-0.41;-0.41	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.86280	0.5895	M	0.93763	3.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	D	0.89842	0.4003	10	0.87932	D	0	.	17.015	0.86416	0.0:1.0:0.0:0.0	.	220;266	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	L	220;266	ENSP00000379922:R220L;ENSP00000268231:R266L	ENSP00000268231:R266L	R	-	2	0	SEPT12	4769718	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.564000	0.82326	2.590000	0.87494	0.655000	0.94253	CGG		0.602	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		5	135	5	135	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418																																						ENST00000446231.2																			0				NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						c.(10837-10839)tGg>tTg		SMG1 phosphatidylinositol 3-kinase-related kinase							354.0	333.0	340.0					16																	18823153		1912	4124	6036	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18823153C>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.10838G>T	16.37:g.18823153C>A	ENSP00000402515:p.Trp3613Leu		Somatic				SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L|RP11-1035H13.2_ENST00000569096.1_RNA	p.W3613L			WXS	Illumina GAIIx	Phase_I	Q96Q15	SMG1_HUMAN			62	11250	-			3613					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.10838G>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701063	0.88924	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.00892	5.57;5.57	5.83	5.83	0.93111	Phosphatidylinositol 3-/4-kinase, catalytic (1);	0.000000	0.64402	D	0.000012	T	0.05227	0.0139	M	0.65975	2.015	0.58432	D	0.999994	D	0.63880	0.993	D	0.72982	0.979	T	0.55611	-0.8114	10	0.28530	T	0.3	.	20.1162	0.97934	0.0:1.0:0.0:0.0	.	3613	Q96Q15	SMG1_HUMAN	L	3613;3614	ENSP00000402515:W3613L;ENSP00000374118:W3614L	ENSP00000374118:W3614L	W	-	2	0	SMG1	18730654	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.756000	0.94617	0.655000	0.94253	TGG		0.418	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		9	499	9	499	---	---	---	---
TMC7	79905	broad.mit.edu	37	16	19063038	19063038	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:19063038C>A	ENST00000304381.5	+	13	1901	c.1771C>A	c.(1771-1773)Ccc>Acc	p.P591T	TMC7_ENST00000569532.1_Missense_Mutation_p.P591T|TMC7_ENST00000421369.3_Missense_Mutation_p.P481T	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	591					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CAGACCCTCCCCCAGGCCGTT	0.413																																						ENST00000421369.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						c.(1441-1443)Ccc>Acc		transmembrane channel-like 7							179.0	161.0	167.0					16																	19063038		2197	4300	6497	SO:0001583	missense	79905					integral to membrane		g.chr16:19063038C>A	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1771C>A	16.37:g.19063038C>A	ENSP00000304710:p.Pro591Thr		Somatic				TMC7_ENST00000304381.5_Missense_Mutation_p.P591T|TMC7_ENST00000569532.1_Missense_Mutation_p.P591T	p.P481T	NM_001160364.1	NP_001153836.1	WXS	Illumina GAIIx	Phase_I	Q7Z402	TMC7_HUMAN			13	1999	+			591					E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	37	c.1441C>A	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	C	4.468	0.086639	0.08583	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.61980	0.06;0.06	5.62	4.62	0.57501	.	0.120994	0.53938	D	0.000051	T	0.20659	0.0497	N	0.00210	-1.845	0.35767	D	0.820608	B;B	0.09022	0.002;0.001	B;B	0.14023	0.01;0.01	T	0.38415	-0.9662	10	0.11182	T	0.66	.	8.0089	0.30342	0.4046:0.4813:0.1141:0.0	.	591;591	Q7Z402;B3KSZ3	TMC7_HUMAN;.	T	591;481	ENSP00000304710:P591T;ENSP00000397081:P481T	ENSP00000304710:P591T	P	+	1	0	TMC7	18970539	0.964000	0.33143	0.828000	0.32881	0.977000	0.68977	2.563000	0.45922	2.634000	0.89283	0.655000	0.94253	CCC		0.413	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847		7	142	7	142	---	---	---	---
GTF3C1	2975	broad.mit.edu	37	16	27474868	27474868	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:27474868C>A	ENST00000356183.4	-	35	5933	c.5918G>T	c.(5917-5919)cGg>cTg	p.R1973L	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1973					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCACCTTTCCCGTGCTGCCTG	0.582																																						ENST00000356183.4																			0				breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						c.(5917-5919)cGg>cTg		general transcription factor IIIC, polypeptide 1, alpha 220kDa							107.0	110.0	109.0					16																	27474868		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27474868C>A	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5918G>T	16.37:g.27474868C>A	ENSP00000348510:p.Arg1973Leu		Somatic				GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1948L	p.R1973L	NM_001520.3	NP_001511.2	WXS	Illumina GAIIx	Phase_I	Q12789	TF3C1_HUMAN			35	5933	-			1973					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5918G>T	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.461498	0.26248	.	.	ENSG00000077235	ENST00000356183	T	0.22539	1.95	4.44	-0.197	0.13228	.	1.547300	0.03863	N	0.274348	T	0.15869	0.0382	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.002;0.005	T	0.22347	-1.0219	10	0.28530	T	0.3	-13.232	3.2233	0.06723	0.1811:0.4762:0.0:0.3427	.	1973;1948	Q12789;Q12789-3	TF3C1_HUMAN;.	L	1973	ENSP00000348510:R1973L	ENSP00000348510:R1973L	R	-	2	0	GTF3C1	27382369	0.000000	0.05858	0.020000	0.16555	0.308000	0.27856	-0.458000	0.06737	-0.314000	0.08716	0.561000	0.74099	CGG		0.582	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		6	189	6	189	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28847439	28847439	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:28847439C>A	ENST00000336783.4	+	22	3248	c.3081C>A	c.(3079-3081)ccC>ccA	p.P1027P	ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1027					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGGACACCCCCAAGGTGAGC	0.632																																						ENST00000336783.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3079-3081)ccC>ccA		ataxin 2-like							46.0	54.0	52.0					16																	28847439		2194	4300	6494	SO:0001819	synonymous_variant	11273					membrane		g.chr16:28847439C>A		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.3081C>A	16.37:g.28847439C>A			Somatic				ATXN2L_ENST00000570200.1_Silent_p.P1027P|ATXN2L_ENST00000382686.4_Silent_p.P1027P|ATXN2L_ENST00000340394.8_Silent_p.P1027P|ATXN2L_ENST00000325215.6_Silent_p.P1027P|ATXN2L_ENST00000564304.1_Silent_p.P1033P|ATXN2L_ENST00000395547.2_Silent_p.P1027P|RP11-24N18.1_ENST00000563565.1_RNA	p.P1027P	NM_007245.3	NP_009176.2	WXS	Illumina GAIIx	Phase_I	Q8WWM7	ATX2L_HUMAN			22	3248	+			1027					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Silent	SNP	ENST00000336783.4	37	c.3081C>A	CCDS10641.1																																																																																				0.632	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		6	117	6	117	---	---	---	---
SPN	6693	broad.mit.edu	37	16	29675312	29675312	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:29675312C>A	ENST00000360121.3	+	2	355	c.263C>A	c.(262-264)cCt>cAt	p.P88H	SPN_ENST00000395389.2_Missense_Mutation_p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						ACTGGTTCCCCTTTACCTGAG	0.542																																						ENST00000360121.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						c.(262-264)cCt>cAt		sialophorin							164.0	143.0	150.0					16																	29675312		2197	4300	6497	SO:0001583	missense	6693				blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity	g.chr16:29675312C>A	J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.263C>A	16.37:g.29675312C>A	ENSP00000353238:p.Pro88His		Somatic				SPN_ENST00000395389.2_Missense_Mutation_p.P88H	p.P88H	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	WXS	Illumina GAIIx	Phase_I	P16150	LEUK_HUMAN			2	355	+			88					A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	c.263C>A	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	13.74	2.327570	0.41197	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.34072	1.39;1.38;1.39	3.71	-1.45	0.08828	.	1.351940	0.05334	N	0.528901	T	0.25044	0.0608	L	0.31926	0.97	0.09310	N	1	B	0.16396	0.017	B	0.12837	0.008	T	0.32877	-0.9890	10	0.72032	D	0.01	-0.0162	2.6303	0.04942	0.403:0.3058:0.0:0.2912	.	88	P16150	LEUK_HUMAN	H	88	ENSP00000378787:P88H;ENSP00000412907:P88H;ENSP00000353238:P88H	ENSP00000353238:P88H	P	+	2	0	SPN	29582813	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.142000	0.10311	-0.221000	0.09973	0.462000	0.41574	CCT		0.542	SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2			6	135	6	135	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30735154	30735154	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:30735154C>A	ENST00000262518.4	+	25	4794	c.4409C>A	c.(4408-4410)cCa>cAa	p.P1470Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1470	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCTTCGGGCCCAGCTCTGTTG	0.612																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(4408-4410)cCa>cAa		Snf2-related CREBBP activator protein							203.0	173.0	183.0					16																	30735154		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735154C>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4409C>A	16.37:g.30735154C>A	ENSP00000262518:p.Pro1470Gln		Somatic				SRCAP_ENST00000344771.4_Missense_Mutation_p.P1312Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1408Q	p.P1470Q	NM_006662.2	NP_006653.2	WXS	Illumina GAIIx	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	4794	+			1470			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4409C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302646	0.40795	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.94931	-3.56;-3.47;-3.06	5.93	5.93	0.95920	.	0.114841	0.39985	N	0.001212	D	0.89319	0.6681	N	0.19112	0.55	0.27636	N	0.947873	B;B;B	0.26744	0.158;0.158;0.098	B;B;B	0.29785	0.068;0.107;0.05	T	0.80933	-0.1161	10	0.33141	T	0.24	-2.4972	12.739	0.57241	0.1641:0.8359:0.0:0.0	.	1312;1408;1470	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	Q	1470;1408;1312	ENSP00000262518:P1470Q;ENSP00000378499:P1408Q;ENSP00000343042:P1312Q	ENSP00000262518:P1470Q	P	+	2	0	SRCAP	30642655	0.002000	0.14202	0.998000	0.56505	0.951000	0.60555	0.996000	0.29719	2.811000	0.96726	0.557000	0.71058	CCA		0.612	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		6	170	6	170	---	---	---	---
VKORC1	79001	broad.mit.edu	37	16	31105608	31105608	+	Intron	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:31105608C>A	ENST00000394975.2	-	1	401				VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000354895.4_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000319788.7_Intron|VKORC1_ENST00000394971.3_Missense_Mutation_p.R72L	NM_024006.4	NP_076869.1	Q9BQB6	VKOR1_HUMAN	vitamin K epoxide reductase complex, subunit 1						blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular protein metabolic process (GO:0044267)|drug metabolic process (GO:0017144)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|vitamin K metabolic process (GO:0042373)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	quinone binding (GO:0048038)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicoumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CCTGCCTCCCCGCCTTTCCTG	0.617																																						ENST00000394971.3																			0				lung(3)|urinary_tract(1)	4						c.(214-216)cGg>cTg		vitamin K epoxide reductase complex, subunit 1	Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)						370.0	327.0	340.0					16																	31105608		876	1991	2867	SO:0001627	intron_variant	79001				peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity	g.chr16:31105608C>A		CCDS10703.1, CCDS10704.1	16p11.2	2008-02-05	2004-07-23		ENSG00000167397	ENSG00000167397			23663	protein-coding gene	gene with protein product		608547	"""vitamin K dependent clotting factors deficiency 2"""	VKCFD2			Standard	NM_024006		Approved		uc002eas.3	Q9BQB6	OTTHUMG00000047408	ENST00000394975.2:c.173+269G>T	16.37:g.31105608C>A			Somatic				VKORC1_ENST00000300851.6_Intron|VKORC1_ENST00000319788.7_Intron|RP11-196G11.1_ENST00000529564.1_Intron|VKORC1_ENST00000394975.2_Intron|VKORC1_ENST00000498155.1_Intron|VKORC1_ENST00000354895.4_Intron	p.R72L			WXS	Illumina GAIIx	Phase_I	Q9BQB6	VKOR1_HUMAN			1	262	-			0					A6NIQ6|B2R4Z6|Q6UX90|Q7Z2R4	Missense_Mutation	SNP	ENST00000394975.2	37	c.215G>T	CCDS10703.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321014	0.23994	.	.	ENSG00000167397	ENST00000394971	.	.	.	3.62	-6.0	0.02206	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.56872	-0.7907	5	0.87932	D	0	.	12.028	0.53382	0.0:0.2415:0.0:0.7585	.	.	.	.	L	72	.	ENSP00000378422:R72L	R	-	2	0	VKORC1	31013109	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.039000	0.01418	-1.374000	0.02131	-0.367000	0.07326	CGG		0.617	VKORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108582.1	NM_024006		9	245	9	245	---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47165907	47165907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:47165907C>A	ENST00000562435.1	-	2	448	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	22					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACGGCAATCCCTTCCACTACC	0.338										HNSCC(25;0.065)																												ENST00000562435.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29						c.(64-66)Ggg>Tgg		neuropilin (NRP) and tolloid (TLL)-like 2							238.0	222.0	227.0					16																	47165907		2202	4300	6502	SO:0001583	missense	81831					integral to membrane	receptor activity	g.chr16:47165907C>A	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.64G>T	16.37:g.47165907C>A	ENSP00000455169:p.Gly22Trp	HNSCC(25;0.065)	Somatic				NETO2_ENST00000303155.5_Missense_Mutation_p.G22W	p.G22W	NM_018092.4	NP_060562.3	WXS	Illumina GAIIx	Phase_I	Q8NC67	NETO2_HUMAN			2	448	-		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)	22					J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	c.64G>T	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434647	0.83885	.	.	ENSG00000171208	ENST00000303155	T	0.23147	1.92	4.94	4.94	0.65067	.	0.121294	0.56097	D	0.000036	T	0.41650	0.1168	L	0.32530	0.975	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.25745	-1.0123	10	0.46703	T	0.11	.	18.1734	0.89753	0.0:1.0:0.0:0.0	.	22;22	Q32NC3;Q8NC67	.;NETO2_HUMAN	W	22	ENSP00000306726:G22W	ENSP00000306726:G22W	G	-	1	0	NETO2	45723408	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.871000	0.69628	2.267000	0.75376	0.557000	0.71058	GGG		0.338	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092		8	288	8	288	---	---	---	---
MMP2	4313	broad.mit.edu	37	16	55525775	55525775	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55525775C>A	ENST00000219070.4	+	8	1752	c.1243C>A	c.(1243-1245)Caa>Aaa	p.Q415K	MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K|MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	415	Collagenase-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGAGCACTCCCAAGACCCTGG	0.582																																						ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(1243-1245)Caa>Aaa		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)						65.0	63.0	63.0					16																	55525775		2198	4300	6498	SO:0001583	missense	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55525775C>A		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1243C>A	16.37:g.55525775C>A	ENSP00000219070:p.Gln415Lys		Somatic				MMP2_ENST00000437642.2_Missense_Mutation_p.Q365K|MMP2_ENST00000570308.1_Missense_Mutation_p.Q339K|MMP2_ENST00000543485.1_Missense_Mutation_p.Q339K	p.Q415K	NM_004530.4	NP_004521.1	WXS	Illumina GAIIx	Phase_I	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	8	1752	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	415			Collagenase-like 2.|Required for inhibitor TIMP2 binding.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	ENST00000219070.4	37	c.1243C>A	CCDS10752.1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259393	0.10239	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.80480	-1.38;-1.38;-1.38	5.23	-4.55	0.03441	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.564292	0.19547	N	0.111658	T	0.63343	0.2503	N	0.19112	0.55	0.28383	N	0.919455	B;B	0.29270	0.001;0.24	B;B	0.26094	0.002;0.066	T	0.44892	-0.9298	10	0.37606	T	0.19	.	14.4733	0.67531	0.1426:0.2633:0.5941:0.0	.	365;415	E9PE45;P08253	.;MMP2_HUMAN	K	415;339;365	ENSP00000219070:Q415K;ENSP00000444143:Q339K;ENSP00000394237:Q365K	ENSP00000219070:Q415K	Q	+	1	0	MMP2	54083276	0.000000	0.05858	0.007000	0.13788	0.963000	0.63663	-0.290000	0.08354	-1.096000	0.03046	-0.470000	0.05040	CAA		0.582	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			5	90	5	90	---	---	---	---
CES1	1066	broad.mit.edu	37	16	55844530	55844530	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:55844530C>A	ENST00000361503.4	-	11	1344	c.1214G>T	c.(1213-1215)gGa>gTa	p.G405V	CES1_ENST00000360526.3_Missense_Mutation_p.G406V|CES1_ENST00000422046.2_Missense_Mutation_p.G404V			P23141	EST1_HUMAN	carboxylesterase 1	405					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	GTCTGTTCCTCCTAAGTATTT	0.483																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(1210-1212)gGa>gTa		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						182.0	192.0	188.0					16																	55844530		2198	4300	6498	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844530C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1214G>T	16.37:g.55844530C>A	ENSP00000355193:p.Gly405Val		Somatic				CES1_ENST00000361503.4_Missense_Mutation_p.G405V|CES1_ENST00000360526.3_Missense_Mutation_p.G406V	p.G404V			WXS	Illumina GAIIx	Phase_I	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1492	-			405					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.1211G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	13.55	2.271698	0.40194	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.17370	3.24;3.24;2.28	4.69	2.71	0.32032	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000011	T	0.32255	0.0823	M	0.80028	2.48	0.58432	D	0.999993	P;P;P	0.51449	0.892;0.945;0.868	P;P;P	0.55785	0.784;0.784;0.678	T	0.03576	-1.1023	10	0.87932	D	0	.	6.5127	0.22230	0.0:0.7161:0.1831:0.1008	.	404;405;406	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	V	406;405;404;270	ENSP00000353720:G406V;ENSP00000355193:G405V;ENSP00000390492:G404V	ENSP00000353720:G406V	G	-	2	0	CES1	54402031	0.649000	0.27322	0.075000	0.20258	0.428000	0.31595	1.688000	0.37690	0.421000	0.25980	0.456000	0.33151	GGA		0.483	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		7	171	7	171	---	---	---	---
AMFR	267	broad.mit.edu	37	16	56423201	56423201	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:56423201C>A	ENST00000290649.5	-	9	1382	c.1172G>T	c.(1171-1173)aGg>aTg	p.R391M		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	391					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATGTTCTTCCCTGACACGATT	0.458																																					Pancreas(2;144 323 39528)	ENST00000290649.5																			0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(1171-1173)aGg>aTg		autocrine motility factor receptor, E3 ubiquitin protein ligase							161.0	144.0	150.0					16																	56423201		2198	4300	6498	SO:0001583	missense	267				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:56423201C>A	L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1172G>T	16.37:g.56423201C>A	ENSP00000290649:p.Arg391Met		Somatic					p.R391M	NM_001144.5	NP_001135.3	WXS	Illumina GAIIx	Phase_I	Q9UKV5	AMFR2_HUMAN			9	1382	-			391					P26442|Q8IZ70	Missense_Mutation	SNP	ENST00000290649.5	37	c.1172G>T	CCDS10758.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.633852	0.67130	.	.	ENSG00000159461	ENST00000290649	T	0.17528	2.27	5.92	5.92	0.95590	.	0.042152	0.85682	D	0.000000	T	0.26011	0.0634	L	0.51422	1.61	0.80722	D	1	P	0.45531	0.86	P	0.45232	0.474	T	0.00269	-1.1861	10	0.54805	T	0.06	-20.3337	20.33	0.98713	0.0:1.0:0.0:0.0	.	391	Q9UKV5	AMFR2_HUMAN	M	391	ENSP00000290649:R391M	ENSP00000290649:R391M	R	-	2	0	AMFR	54980702	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	7.599000	0.82757	2.810000	0.96702	0.585000	0.79938	AGG		0.458	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			6	111	6	111	---	---	---	---
DRC7	84229	broad.mit.edu	37	16	57752294	57752294	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:57752294G>T	ENST00000360716.3	+	9	1334	c.1113G>T	c.(1111-1113)tgG>tgT	p.W371C	CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C|CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C			Q8IY82	CC135_HUMAN		371					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGTGAGATGGGAGTACATGC	0.527																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1111-1113)tgG>tgT		coiled-coil domain containing 135							251.0	223.0	232.0					16																	57752294		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57752294G>T																												ENST00000360716.3:c.1113G>T	16.37:g.57752294G>T	ENSP00000353942:p.Trp371Cys		Somatic				CCDC135_ENST00000394337.4_Missense_Mutation_p.W371C|CCDC135_ENST00000336825.8_Missense_Mutation_p.W306C	p.W371C			WXS	Illumina GAIIx	Phase_I	Q8IY82	CC135_HUMAN			9	1334	+			371					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1113G>T	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	19.44	3.827424	0.71143	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.75938	-0.98;-0.98;-0.98	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.88789	0.6532	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90458	0.4444	10	0.87932	D	0	-19.5225	18.2103	0.89868	0.0:0.0:1.0:0.0	.	306;371	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	371;306;371	ENSP00000377869:W371C;ENSP00000338938:W306C;ENSP00000353942:W371C	ENSP00000338938:W306C	W	+	3	0	CCDC135	56309795	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.641000	0.74324	2.630000	0.89119	0.651000	0.88453	TGG		0.527	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			8	172	8	172	---	---	---	---
CDH5	1003	broad.mit.edu	37	16	66426285	66426285	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:66426285G>T	ENST00000341529.3	+	7	1364	c.1216G>T	c.(1216-1218)Gga>Tga	p.G406*	CDH5_ENST00000563425.2_Missense_Mutation_p.G406W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCATAGCATTGGGTAAGGGGG	0.557																																						ENST00000563425.2																			0				central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(1216-1218)Ggg>Tgg		cadherin 5, type 2 (vascular endothelium)							83.0	84.0	84.0					16																	66426285		2201	4300	6501	SO:0001630	splice_region_variant	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66426285G>T	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1217+1G>T	16.37:g.66426285G>T			Somatic				CDH5_ENST00000341529.3_Splice_Site_p.G406*	p.G406W			WXS	Illumina GAIIx	Phase_I	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	6	1329	+		Ovarian(137;0.0955)	406			Cadherin 4.		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1216G>T	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	35	5.487660	0.96323	.	.	ENSG00000179776	ENST00000341529;ENST00000539262	.	.	.	5.62	3.63	0.41609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6218	0.17461	0.3634:0.0:0.6366:0.0	.	.	.	.	X	406;147	.	ENSP00000344115:G406X	G	+	1	0	CDH5	64983786	0.991000	0.36638	0.976000	0.42696	0.561000	0.35649	2.557000	0.45871	1.340000	0.45581	0.655000	0.94253	GGA		0.557	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795	Nonsense_Mutation	6	120	6	120	---	---	---	---
TPPP3	51673	broad.mit.edu	37	16	67424507	67424507	+	Nonsense_Mutation	SNP	C	C	A	rs11552321		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67424507C>A	ENST00000564104.1	-	2	1058	c.217G>T	c.(217-219)Gag>Tag	p.E73*	TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*|TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|RNU1-123P_ENST00000458950.1_RNA|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	73					microtubule bundle formation (GO:0001578)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	tubulin binding (GO:0015631)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		TTGAACTCCTCATAGTTGATG	0.552																																						ENST00000564104.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7						c.(217-219)Gag>Tag		tubulin polymerization-promoting protein family member 3							161.0	167.0	165.0					16																	67424507		2198	4300	6498	SO:0001587	stop_gained	51673				microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding	g.chr16:67424507C>A	BC000691	CCDS10835.1	16q22.1	2008-02-05			ENSG00000159713	ENSG00000159713			24162	protein-coding gene	gene with protein product						15590652, 17105200	Standard	XM_005255979		Approved	CGI-38, p25gamma, p20	uc002etb.3	Q9BW30	OTTHUMG00000137516	ENST00000564104.1:c.217G>T	16.37:g.67424507C>A	ENSP00000462435:p.Glu73*		Somatic				TPPP3_ENST00000562206.1_Nonsense_Mutation_p.E73*|TPPP3_ENST00000290942.5_Nonsense_Mutation_p.E73*|TPPP3_ENST00000393957.2_Nonsense_Mutation_p.E73*	p.E73*			WXS	Illumina GAIIx	Phase_I	Q9BW30	TPPP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)	2	1058	-		Ovarian(137;0.0563)	73					Q49AH9|Q9Y326|Q9Y6H0	Nonsense_Mutation	SNP	ENST00000564104.1	37	c.217G>T	CCDS10835.1	.	.	.	.	.	.	.	.	.	.	c	39	7.575604	0.98368	.	.	ENSG00000159713	ENST00000393957;ENST00000290942	.	.	.	3.88	3.88	0.44766	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-27.7151	15.042	0.71799	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000290942:E73X	E	-	1	0	TPPP3	65982008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.673000	0.68109	2.000000	0.58554	0.457000	0.33378	GAG		0.552	TPPP3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421787.2	NM_015964		7	230	7	230	---	---	---	---
SLC12A4	6560	broad.mit.edu	37	16	67980429	67980429	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:67980429C>A	ENST00000316341.3	-	18	2489	c.2349G>T	c.(2347-2349)ctG>ctT	p.L783L	SLC12A4_ENST00000338335.3_Intron|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Silent_p.L777L|SLC12A4_ENST00000422611.2_Silent_p.L785L|SLC12A4_ENST00000572037.1_Silent_p.L735L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000576616.1_Silent_p.L783L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	783					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATGCCTCCCAGGCCACAGG	0.627																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2353-2355)ctG>ctT		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)						57.0	59.0	58.0					16																	67980429		2198	4299	6497	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980429C>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2349G>T	16.37:g.67980429C>A			Somatic				SLC12A4_ENST00000316341.3_Silent_p.L783L|SLC12A4_ENST00000572037.1_Silent_p.L735L|SLC12A4_ENST00000541864.2_Silent_p.L752L|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Silent_p.L783L|SLC12A4_ENST00000537830.2_Silent_p.L777L	p.L785L	NM_001145962.1	NP_001139434.1	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2394	-		Ovarian(137;0.192)	783					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.2355G>T	CCDS10855.1																																																																																				0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	93	5	93	---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000429102.2_Missense_Mutation_p.L268P|CDH3_ENST00000581171.1_Missense_Mutation_p.L213P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552																																						ENST00000264012.4																			2	Unknown(2)	p.?(2)	breast(2)	NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25						c.(802-804)cTc>cCc		cadherin 3, type 1, P-cadherin (placental)							204.0	146.0	165.0					16																	68713813		2198	4300	6498	SO:0001583	missense	1001				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	g.chr16:68713813T>C	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.803T>C	16.37:g.68713813T>C	ENSP00000264012:p.Leu268Pro		Somatic				CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	p.L268P	NM_001793.4	NP_001784.2	WXS	Illumina GAIIx	Phase_I	P22223	CADH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)	7	1347	+		Ovarian(137;0.0564)	268			Cadherin 2.		B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	37	c.803T>C	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	T	8.393	0.840138	0.16891	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.51071	0.72;0.72	5.18	2.75	0.32379	Cadherin (4);Cadherin-like (1);	0.227351	0.22575	N	0.058298	T	0.22859	0.0552	N	0.04245	-0.25	0.58432	D	0.999997	B	0.06786	0.001	B	0.12837	0.008	T	0.04621	-1.0938	10	0.59425	D	0.04	.	6.0144	0.19594	0.1907:0.0:0.1367:0.6726	.	268	P22223	CADH3_HUMAN	P	268;268;213	ENSP00000398485:L268P;ENSP00000264012:L268P	ENSP00000264012:L268P	L	+	2	0	CDH3	67271314	0.989000	0.36119	0.997000	0.53966	0.058000	0.15608	3.747000	0.55134	0.770000	0.33336	0.528000	0.53228	CTC		0.552	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793		4	98	4	98	---	---	---	---
AARS	16	broad.mit.edu	37	16	70303597	70303597	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:70303597G>T	ENST00000261772.8	-	7	1029	c.886C>A	c.(886-888)Cgg>Agg	p.R296R		NM_001605.2	NP_001596.2			alanyl-tRNA synthetase											breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		GCCAGCACCCGGTAGGCCATG	0.587																																						ENST00000261772.8																			0				breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27						c.(886-888)Cgg>Agg		alanyl-tRNA synthetase	L-Alanine(DB00160)						216.0	187.0	197.0					16																	70303597		2198	4300	6498	SO:0001819	synonymous_variant	16				alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr16:70303597G>T	D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.886C>A	16.37:g.70303597G>T			Somatic					p.R296R	NM_001605.2	NP_001596.2	WXS	Illumina GAIIx	Phase_I	P49588	SYAC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.161)	7	1029	-		Ovarian(137;0.0365)	296						Silent	SNP	ENST00000261772.8	37	c.886C>A	CCDS32474.1																																																																																				0.587	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435021.2	NM_001605		6	213	6	213	---	---	---	---
WWOX	51741	broad.mit.edu	37	16	78466600	78466600	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:78466600G>T	ENST00000566780.1	+	8	1373	c.1007G>T	c.(1006-1008)tGg>tTg	p.W336L	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	336	Interaction with MAPT. {ECO:0000250}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of Wnt signaling pathway (GO:0030178)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system morphogenesis (GO:0048705)|steroid metabolic process (GO:0008202)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|cofactor binding (GO:0048037)|enzyme binding (GO:0019899)|oxidoreductase activity (GO:0016491)|protein dimerization activity (GO:0046983)			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CGCAGCTGGTGGGTGTACACA	0.552																																						ENST00000566780.1																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7						c.(1006-1008)tGg>tTg		WW domain containing oxidoreductase							184.0	184.0	184.0					16																	78466600		2077	4212	6289	SO:0001583	missense	51741				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	g.chr16:78466600G>T	AF187015	CCDS42196.1, CCDS42197.1	16q23.3-q24.1	2012-08-15	2002-01-14		ENSG00000186153	ENSG00000186153	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	12799	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 41C, member 1"""	605131	"""WW domain-containing oxidoreductase"""			10786676, 10861292, 19027726	Standard	XR_243411		Approved	FOR, WOX1, SDR41C1	uc002ffk.3	Q9NZC7	OTTHUMG00000176851	ENST00000566780.1:c.1007G>T	16.37:g.78466600G>T	ENSP00000457230:p.Trp336Leu		Somatic				WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.W336L|WWOX_ENST00000406884.2_Intron	p.W336L	NM_016373.2	NP_057457.1	WXS	Illumina GAIIx	Phase_I	Q9NZC7	WWOX_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)	8	1373	+		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)	336			Interaction with MAPT (By similarity).		A8K323|Q5MYT5|Q96KM3|Q96RF2|Q9BTT8|Q9NPC9|Q9NRF4|Q9NRF5|Q9NRF6|Q9NRK1|Q9NZC5	Missense_Mutation	SNP	ENST00000566780.1	37	c.1007G>T	CCDS42196.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822407	0.90873	.	.	ENSG00000186153	ENST00000408984	T	0.19669	2.13	5.93	5.93	0.95920	NAD(P)-binding domain (1);	0.426761	0.20015	N	0.101037	T	0.39759	0.1090	L	0.41961	1.31	0.80722	D	1	D	0.71674	0.998	P	0.62560	0.904	T	0.01729	-1.1286	10	0.48119	T	0.1	.	20.3261	0.98701	0.0:0.0:1.0:0.0	.	336	Q9NZC7	WWOX_HUMAN	L	336	ENSP00000386161:W336L	ENSP00000386161:W336L	W	+	2	0	WWOX	77024101	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.476000	0.97823	2.814000	0.96858	0.655000	0.94253	TGG		0.552	WWOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434328.1			8	273	8	273	---	---	---	---
KLHDC4	54758	broad.mit.edu	37	16	87782413	87782413	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87782413C>A	ENST00000270583.5	-	5	430	c.372G>T	c.(370-372)gcG>gcT	p.A124A	KLHDC4_ENST00000347925.5_Silent_p.A124A|RP11-278A23.2_ENST00000563036.1_RNA|KLHDC4_ENST00000353170.5_Silent_p.A67A	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	124										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GCACTACCACCGCCTGTGAAA	0.577																																						ENST00000270583.5																			0				breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(370-372)gcG>gcT		kelch domain containing 4							113.0	110.0	111.0					16																	87782413		2198	4300	6498	SO:0001819	synonymous_variant	54758							g.chr16:87782413C>A	AK001742	CCDS10963.1, CCDS54050.1, CCDS54051.1	16q24	2008-02-05			ENSG00000104731	ENSG00000104731			25272	protein-coding gene	gene with protein product							Standard	NM_001184854		Approved	DKFZp434G0522	uc002fki.3	Q8TBB5	OTTHUMG00000137657	ENST00000270583.5:c.372G>T	16.37:g.87782413C>A			Somatic				KLHDC4_ENST00000347925.5_Silent_p.A124A|KLHDC4_ENST00000353170.5_Silent_p.A67A	p.A124A	NM_017566.3	NP_060036.2	WXS	Illumina GAIIx	Phase_I	Q8TBB5	KLDC4_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0283)	5	430	-			124					D3DUN3|D3DUN4|D3DUN5|Q96F29|Q9BVN3	Silent	SNP	ENST00000270583.5	37	c.372G>T	CCDS10963.1																																																																																				0.577	KLHDC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269109.2	NM_017566		6	169	6	169	---	---	---	---
SLC7A5	8140	broad.mit.edu	37	16	87874706	87874706	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:87874706C>A	ENST00000261622.4	-	3	785	c.720G>T	c.(718-720)gtG>gtT	p.V240V	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	240					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)	Dextrothyroxine(DB00509)|L-DOPA(DB01235)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Melphalan(DB01042)	CAATGTTCCCCACATCCAGTT	0.517																																						ENST00000261622.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10						c.(718-720)gtG>gtT		solute carrier family 7 (amino acid transporter light chain, L system), member 5							207.0	181.0	190.0					16																	87874706		2198	4300	6498	SO:0001819	synonymous_variant	8140				blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr16:87874706C>A	AF077866	CCDS10964.1	16q24.3	2013-05-22	2011-07-12		ENSG00000103257	ENSG00000103257		"""CD molecules"", ""Solute carriers"""	11063	protein-coding gene	gene with protein product		600182				9751058, 7829099	Standard	XM_006721286		Approved	LAT1, E16, D16S469E, MPE16, CD98	uc002fkm.3	Q01650	OTTHUMG00000137658	ENST00000261622.4:c.720G>T	16.37:g.87874706C>A			Somatic				SLC7A5_ENST00000565644.1_5'UTR	p.V240V	NM_003486.5	NP_003477.4	WXS	Illumina GAIIx	Phase_I	Q01650	LAT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.049)	3	785	-			240					Q8IV97|Q9UBN8|Q9UP15|Q9UQC0	Silent	SNP	ENST00000261622.4	37	c.720G>T	CCDS10964.1																																																																																				0.517	SLC7A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269110.2	NM_003486		6	90	6	90	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89348394	89348394	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89348394C>A	ENST00000301030.4	-	9	5016	c.4556G>T	c.(4555-4557)aGg>aTg	p.R1519M	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1519	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCCTCGTCCCTGGACTTGTC	0.612																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(4555-4557)aGg>aTg		ankyrin repeat domain 11							74.0	71.0	72.0					16																	89348394		2198	4300	6498	SO:0001583	missense	29123					nucleus		g.chr16:89348394C>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4556G>T	16.37:g.89348394C>A	ENSP00000301030:p.Arg1519Met		Somatic				ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1519M	p.R1519M	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	WXS	Illumina GAIIx	Phase_I	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	5016	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1519			Lys-rich.		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	c.4556G>T	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	11.65	1.700974	0.30142	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.47528	0.84;0.84	5.11	0.908	0.19326	.	0.198904	0.39544	N	0.001330	T	0.40322	0.1112	L	0.40543	1.245	0.80722	D	1	P	0.52842	0.956	P	0.46975	0.533	T	0.22906	-1.0203	10	0.87932	D	0	.	8.3458	0.32272	0.0:0.1949:0.0:0.8051	.	1519	Q6UB99	ANR11_HUMAN	M	1519	ENSP00000301030:R1519M;ENSP00000367581:R1519M	ENSP00000301030:R1519M	R	-	2	0	ANKRD11	87875895	1.000000	0.71417	0.500000	0.27589	0.221000	0.24807	2.035000	0.41155	-0.044000	0.13491	0.563000	0.77884	AGG		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		6	91	6	91	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89806480	89806480	+	Missense_Mutation	SNP	G	G	T	rs200917877		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:89806480G>T	ENST00000389301.3	-	39	3886	c.3856C>A	c.(3856-3858)Cac>Aac	p.H1286N	FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1286					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GCACAAACGTGGAAAGCCTTT	0.542			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group A"""			L		"""AML, leukemia"""			0				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(3856-3858)Cac>Aac	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group A							153.0	153.0	153.0					16																	89806480		2198	4300	6498	SO:0001583	missense	2175	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89806480G>T	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3856C>A	16.37:g.89806480G>T	ENSP00000373952:p.His1286Asn		Somatic				FANCA_ENST00000568369.1_Missense_Mutation_p.H1286N|ZNF276_ENST00000289816.5_3'UTR	p.H1286N	NM_000135.2	NP_000126.2	WXS	Illumina GAIIx	Phase_I	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	39	3886	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	1286					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	ENST00000389301.3	37	c.3856C>A	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	5.266	0.234459	0.09969	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	T	0.77620	-1.11	5.34	1.04	0.20106	.	1.084070	0.07053	N	0.832254	T	0.59074	0.2167	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.41413	-0.9510	10	0.24483	T	0.36	-1.6371	10.5946	0.45329	0.0:0.5501:0.3756:0.0742	.	263;1286;1286	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	N	1286;263	ENSP00000373952:H1286N	ENSP00000306281:H263N	H	-	1	0	FANCA	88333981	0.001000	0.12720	0.004000	0.12327	0.001000	0.01503	0.318000	0.19504	0.313000	0.23062	-0.242000	0.12053	CAC		0.542	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			8	297	8	297	---	---	---	---
GEMIN4	50628	broad.mit.edu	37	17	649429	649429	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:649429G>T	ENST00000319004.5	-	2	1972	c.1854C>A	c.(1852-1854)ccC>ccA	p.P618P	GEMIN4_ENST00000576778.1_Silent_p.P607P	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	618					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTTCTTCCTTGGGTGTAGAGA	0.507																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(1819-1821)ccC>ccA		gem (nuclear organelle) associated protein 4							126.0	126.0	126.0					17																	649429		1894	4125	6019	SO:0001819	synonymous_variant	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:649429G>T	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1854C>A	17.37:g.649429G>T			Somatic				GEMIN4_ENST00000319004.5_Silent_p.P618P	p.P607P			WXS	Illumina GAIIx	Phase_I	P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	3162	-		Myeloproliferative disorder(207;0.204)	618					Q9NZS7|Q9UG32|Q9Y4Q2	Silent	SNP	ENST00000319004.5	37	c.1821C>A	CCDS45559.1																																																																																				0.507	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		8	161	8	161	---	---	---	---
TUSC5	286753	broad.mit.edu	37	17	1198824	1198824	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:1198824C>A	ENST00000333813.3	+	2	766	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	143					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)		p.R143W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGACGGCGCCCGGAGGCTGGG	0.622																																						ENST00000333813.3																			1	Substitution - Missense(1)	p.R143W(1)	endometrium(1)	endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15						c.(427-429)Cgg>Agg		tumor suppressor candidate 5							92.0	109.0	104.0					17																	1198824		2096	4224	6320	SO:0001819	synonymous_variant	286753				response to biotic stimulus	integral to membrane		g.chr17:1198824C>A	AB090231	CCDS42225.1	17p13.3	2009-10-16			ENSG00000184811	ENSG00000184811			29592	protein-coding gene	gene with protein product	"""located at seventeen p thirteen point three 1"", ""interferon induced transmembrane protein domain containing 3"""	612211				12660825	Standard	NM_172367		Approved	LOST1, IFITMD3	uc002fsi.1	Q8IXB3	OTTHUMG00000132196	ENST00000333813.3:c.427C>A	17.37:g.1198824C>A			Somatic					p.R143R	NM_172367.2	NP_758955.2	WXS	Illumina GAIIx	Phase_I	Q8IXB3	TUSC5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	2	766	+			143					A6NMK4	Silent	SNP	ENST00000333813.3	37	c.427C>A	CCDS42225.1																																																																																				0.622	TUSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255249.1	NM_172367		6	172	6	172	---	---	---	---
METTL16	79066	broad.mit.edu	37	17	2323643	2323643	+	Missense_Mutation	SNP	C	C	A	rs201182820		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:2323643C>A	ENST00000263092.6	-	10	1437	c.1310G>T	c.(1309-1311)cGg>cTg	p.R437L	METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	437							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CTCGCCTTCCCGCAGAGCAGG	0.647																																						ENST00000263092.6																			0				kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						c.(1309-1311)cGg>cTg		methyltransferase like 16							54.0	61.0	59.0					17																	2323643		1828	4070	5898	SO:0001583	missense	79066						methyltransferase activity	g.chr17:2323643C>A	AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.1310G>T	17.37:g.2323643C>A	ENSP00000263092:p.Arg437Leu		Somatic				METTL16_ENST00000538844.1_Missense_Mutation_p.R219L|METTL16_ENST00000571669.2_5'UTR	p.R437L	NM_024086.3	NP_076991.3	WXS	Illumina GAIIx	Phase_I	Q86W50	MET16_HUMAN			10	1437	-								D3DTI8|Q86TE5|Q96T16|Q9BVG7	Missense_Mutation	SNP	ENST00000263092.6	37	c.1310G>T	CCDS42232.1	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.357504	0.01245	.	.	ENSG00000127804	ENST00000263092;ENST00000537138;ENST00000538844	T;T	0.42131	1.0;0.98	4.96	-9.91	0.00458	.	1.656050	0.03445	N	0.209819	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10800	-1.0614	10	0.20046	T	0.44	.	5.2765	0.15653	0.0792:0.3013:0.4229:0.1966	.	437	Q86W50	MET16_HUMAN	L	437;117;219	ENSP00000263092:R437L;ENSP00000443633:R219L	ENSP00000263092:R437L	R	-	2	0	METTL16	2270393	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-2.154000	0.01285	-3.074000	0.00252	0.511000	0.50034	CGG		0.647	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		6	175	6	175	---	---	---	---
OR1A1	8383	broad.mit.edu	37	17	3119035	3119035	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:3119035G>T	ENST00000304094.1	+	1	121	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CACATTGATTGGAAACCTGCT	0.458																																						ENST00000304094.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(121-123)Gga>Tga		olfactory receptor, family 1, subfamily A, member 1							258.0	210.0	227.0					17																	3119035		2203	4300	6503	SO:0001587	stop_gained	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119035G>T	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.121G>T	17.37:g.3119035G>T	ENSP00000305207:p.Gly41*		Somatic					p.G41*	NM_014565.2	NP_055380.2	WXS	Illumina GAIIx	Phase_I	Q9P1Q5	OR1A1_HUMAN			1	121	+			41					A5D914|Q6IFM1|Q6NTA9|Q96R87	Nonsense_Mutation	SNP	ENST00000304094.1	37	c.121G>T	CCDS11022.1	.	.	.	.	.	.	.	.	.	.	G	33	5.248806	0.95305	.	.	ENSG00000172146	ENST00000304094	.	.	.	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.9321	0.86192	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000305207:G41X	G	+	1	0	OR1A1	3065785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	8.438000	0.90305	2.584000	0.87258	0.436000	0.28706	GGA		0.458	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		7	253	7	253	---	---	---	---
PLD2	5338	broad.mit.edu	37	17	4713047	4713047	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:4713047C>A	ENST00000263088.6	+	8	807	c.676C>A	c.(676-678)Cga>Aga	p.R226R	PLD2_ENST00000572940.1_Silent_p.R226R|RP11-81A22.5_ENST00000571067.1_lincRNA	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	226	PH.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CTGCTGTGGCCGAGACCAAGT	0.597																																						ENST00000263088.6																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(676-678)Cga>Aga		phospholipase D2	Choline(DB00122)						114.0	114.0	114.0					17																	4713047		2203	4300	6503	SO:0001819	synonymous_variant	5338				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr17:4713047C>A	AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.676C>A	17.37:g.4713047C>A			Somatic				PLD2_ENST00000572940.1_Silent_p.R226R	p.R226R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	WXS	Illumina GAIIx	Phase_I	O14939	PLD2_HUMAN			8	807	+			226			PH.		I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Silent	SNP	ENST00000263088.6	37	c.676C>A	CCDS11057.1																																																																																				0.597	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663		5	157	5	157	---	---	---	---
SAT2	112483	broad.mit.edu	37	17	7530473	7530473	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7530473C>A	ENST00000269298.5	-	3	409	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	SHBG_ENST00000572262.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_5'Flank|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000380450.4_5'Flank|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_5'Flank|SHBG_ENST00000340624.5_5'Flank|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000575903.1_5'Flank	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	64	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	AGTAGCTTCCCGGGCGCTGGA	0.547																																						ENST00000269298.5																			1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	kidney(1)|large_intestine(2)	3						c.(190-192)Ggg>Tgg		spermidine/spermine N1-acetyltransferase family member 2	Spermine(DB00127)						50.0	56.0	54.0					17																	7530473		2203	4300	6503	SO:0001583	missense	112483					cytoplasm	diamine N-acetyltransferase activity	g.chr17:7530473C>A	AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.190G>T	17.37:g.7530473C>A	ENSP00000269298:p.Gly64Trp		Somatic				SAT2_ENST00000380466.2_5'UTR|SAT2_ENST00000573566.1_Missense_Mutation_p.G64W|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000576728.1_Intron	p.G64W	NM_133491.3	NP_597998.1	WXS	Illumina GAIIx	Phase_I	Q96F10	SAT2_HUMAN		READ - Rectum adenocarcinoma(115;0.166)	3	409	-			64			N-acetyltransferase.			Missense_Mutation	SNP	ENST00000269298.5	37	c.190G>T	CCDS11116.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918149	0.52546	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	T	0.43294	0.95	5.12	1.63	0.23807	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.622297	0.17332	N	0.178097	T	0.44582	0.1300	L	0.35723	1.085	0.09310	N	0.999998	D	0.65815	0.995	P	0.60415	0.874	T	0.17899	-1.0354	10	0.59425	D	0.04	-11.7476	6.7772	0.23626	0.0:0.6561:0.0:0.3438	.	64	Q96F10	SAT2_HUMAN	W	143;64	ENSP00000269298:G64W	ENSP00000269298:G64W	G	-	1	0	SAT2	7471198	0.000000	0.05858	0.003000	0.11579	0.164000	0.22412	0.258000	0.18387	0.575000	0.29434	0.557000	0.71058	GGG		0.547	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440078.1	NM_133491		5	94	5	94	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7696466	7696466	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:7696466C>A	ENST00000572933.1	+	48	8972	c.7512C>A	c.(7510-7512)ctC>ctA	p.L2504L	DNAH2_ENST00000389173.2_Silent_p.L2504L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2504	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCCGCCTCTGGATTGACT	0.517																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7510-7512)ctC>ctA		dynein, axonemal, heavy chain 2							96.0	87.0	90.0					17																	7696466		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7696466C>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7512C>A	17.37:g.7696466C>A			Somatic				DNAH2_ENST00000389173.2_Silent_p.L2504L	p.L2504L			WXS	Illumina GAIIx	Phase_I	Q9P225	DYH2_HUMAN			48	8972	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2504			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7512C>A	CCDS32551.1																																																																																				0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		5	88	5	88	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9757884	9757884	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:9757884C>A	ENST00000262441.5	+	5	1090	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	193					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)			endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	TCTTATCTCCCTCTTCCTGGC	0.512																																						ENST00000262441.5																			0				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44						c.(577-579)Ctc>Atc		glucagon-like peptide 2 receptor	Glucagon recombinant(DB00040)						568.0	444.0	486.0					17																	9757884		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9757884C>A	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.577C>A	17.37:g.9757884C>A	ENSP00000262441:p.Leu193Ile		Somatic				GLP2R_ENST00000574745.1_Missense_Mutation_p.L13I	p.L193I	NM_004246.1	NP_004237.1	WXS	Illumina GAIIx	Phase_I	O95838	GLP2R_HUMAN			5	1090	+			193					Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.577C>A	CCDS11150.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.890386	0.52014	.	.	ENSG00000065325	ENST00000396206;ENST00000304773;ENST00000262441	T	0.37058	1.22	5.03	5.03	0.67393	GPCR, family 2-like (1);	0.000000	0.35903	N	0.002915	T	0.65407	0.2688	M	0.87758	2.905	0.53688	D	0.999974	D	0.71674	0.998	D	0.76071	0.987	T	0.71351	-0.4619	10	0.87932	D	0	.	16.2247	0.82284	0.0:1.0:0.0:0.0	.	193	O95838	GLP2R_HUMAN	I	193;168;193	ENSP00000262441:L193I	ENSP00000262441:L193I	L	+	1	0	GLP2R	9698609	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	4.045000	0.57368	2.760000	0.94817	0.655000	0.94253	CTC		0.512	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			8	345	8	345	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10295964	10295964	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:10295964C>A	ENST00000403437.2	-	38	5558		c.e38-1		RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTCACGTACCTGCAGCCAAG	0.478									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.e38-1		myosin, heavy chain 8, skeletal muscle, perinatal							146.0	138.0	141.0					17																	10295964		2203	4300	6503	SO:0001630	splice_region_variant	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10295964C>A		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5464-1G>T	17.37:g.10295964C>A			Somatic				RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA		NM_002472.2	NP_002463.2	WXS	Illumina GAIIx	Phase_I	P13535	MYH8_HUMAN			38	5558	-								Q14910	Splice_Site	SNP	ENST00000403437.2	37		CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936703	0.73442	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2606	0.90034	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH8	10236689	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	7.416000	0.80143	2.522000	0.85027	0.650000	0.86243	.		0.478	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472	Intron	7	168	7	168	---	---	---	---
SMCR8	140775	broad.mit.edu	37	17	18219210	18219210	+	Missense_Mutation	SNP	C	C	A	rs147939354	byFrequency	TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:18219210C>A	ENST00000406438.3	+	1	587	c.107C>A	c.(106-108)cCc>cAc	p.P36H	TOP3A_ENST00000321105.5_5'Flank|TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_5'Flank	NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	36						nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCGCTCTTCCCCTTCGCCAGT	0.567																																						ENST00000406438.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(106-108)cCc>cAc		Smith-Magenis syndrome chromosome region, candidate 8		C	HIS/PRO	0,4406		0,0,2203	87.0	89.0	88.0		107	6.1	1.0	17	dbSNP_134	88	2,8598	2.2+/-6.3	0,2,4298	no	missense	SMCR8	NM_144775.2	77	0,2,6501	AA,AC,CC		0.0233,0.0,0.0154	probably-damaging	36/938	18219210	2,13004	2203	4300	6503	SO:0001583	missense	140775							g.chr17:18219210C>A	AF467440	CCDS11195.2	17p11.2	2014-06-12			ENSG00000176994	ENSG00000176994			17921	protein-coding gene	gene with protein product						11997338, 23248642	Standard	NM_144775		Approved	FLJ34716	uc002gsy.4	Q8TEV9	OTTHUMG00000059394	ENST00000406438.3:c.107C>A	17.37:g.18219210C>A	ENSP00000385025:p.Pro36His		Somatic					p.P36H	NM_144775.2	NP_658988.2	WXS	Illumina GAIIx	Phase_I	Q8TEV9	SMCR8_HUMAN			1	587	+			36					A5PKZ5|Q3ZCN0|Q6PJL3	Missense_Mutation	SNP	ENST00000406438.3	37	c.107C>A	CCDS11195.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117565	0.77323	0.0	2.33E-4	ENSG00000176994	ENST00000406438	T	0.29142	1.58	6.11	6.11	0.99139	.	0.054528	0.85682	D	0.000000	T	0.48960	0.1529	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.41875	-0.9484	10	0.87932	D	0	-29.6245	20.7342	0.99715	0.0:1.0:0.0:0.0	.	36	Q8TEV9	SMCR8_HUMAN	H	36	ENSP00000385025:P36H	ENSP00000385025:P36H	P	+	2	0	SMCR8	18159935	0.999000	0.42202	0.982000	0.44146	0.826000	0.46750	5.496000	0.66918	2.906000	0.99361	0.655000	0.94253	CCC		0.567	SMCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132065.2	NM_144775		6	79	6	79	---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468																																						ENST00000321765.5																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2578-2580)Cag>Tag		sperm associated antigen 5							156.0	137.0	144.0					17																	26910636		2203	4300	6503	SO:0001587	stop_gained	10615				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	g.chr17:26910636G>A	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2578C>T	17.37:g.26910636G>A	ENSP00000323300:p.Gln860*		Somatic					p.Q860*	NM_006461.3	NP_006452.3	WXS	Illumina GAIIx	Phase_I	Q96R06	SPAG5_HUMAN			15	2910	-	Lung NSC(42;0.00431)		860					O95213|Q9BWE8|Q9NT17|Q9UFE6	Nonsense_Mutation	SNP	ENST00000321765.5	37	c.2578C>T	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	G	44	10.625889	0.99440	.	.	ENSG00000076382;ENSG00000258472	ENST00000321765;ENST00000531839	.	.	.	5.89	3.76	0.43208	.	0.360056	0.24147	N	0.041109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-3.4051	12.2043	0.54342	0.0:0.3451:0.6549:0.0	.	.	.	.	X	860;265	.	ENSP00000431165:Q265X	Q	-	1	0	SPAG5;RP11-192H23.4	23934763	0.977000	0.34250	0.751000	0.31187	0.958000	0.62258	1.958000	0.40402	1.473000	0.48159	0.650000	0.86243	CAG		0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461		4	107	4	107	---	---	---	---
TLCD1	116238	broad.mit.edu	37	17	27051565	27051565	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:27051565G>T	ENST00000292090.3	-	4	817	c.707C>A	c.(706-708)cCc>cAc	p.P236H	SNORD4A_ENST00000459174.1_RNA|TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H|AC010761.14_ENST00000587898.1_RNA|SNORD4B_ENST00000459083.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					TTGCTTCTTGGGGACATGCTC	0.527																																						ENST00000292090.3																			0				breast(2)|endometrium(1)|kidney(2)|lung(2)	7						c.(706-708)cCc>cAc		TLC domain containing 1							173.0	163.0	166.0					17																	27051565		2203	4300	6503	SO:0001583	missense	116238					integral to membrane		g.chr17:27051565G>T	BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.707C>A	17.37:g.27051565G>T	ENSP00000292090:p.Pro236His		Somatic				TLCD1_ENST00000394933.3_Missense_Mutation_p.P189H	p.P236H	NM_138463.3	NP_612472.1	WXS	Illumina GAIIx	Phase_I	Q96CP7	TLCD1_HUMAN			4	817	-	Lung NSC(42;0.00431)		236					A8MYP9	Missense_Mutation	SNP	ENST00000292090.3	37	c.707C>A	CCDS11242.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225396	0.22457	.	.	ENSG00000160606	ENST00000292090;ENST00000394933	.	.	.	5.55	5.55	0.83447	.	0.622257	0.16427	N	0.214902	T	0.38480	0.1042	L	0.29908	0.895	0.09310	N	0.999999	B;B	0.17465	0.022;0.022	B;B	0.16722	0.016;0.01	T	0.29088	-1.0023	9	0.56958	D	0.05	-5.6786	12.9658	0.58483	0.0:0.1749:0.8251:0.0	.	189;236	A8MYP9;Q96CP7	.;TLCD1_HUMAN	H	236;189	.	ENSP00000292090:P236H	P	-	2	0	TLCD1	24075692	0.510000	0.26171	0.120000	0.21714	0.093000	0.18481	3.541000	0.53618	2.628000	0.89032	0.462000	0.41574	CCC		0.527	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255973.1	NM_138463		7	184	7	184	---	---	---	---
DHRS11	79154	broad.mit.edu	37	17	34958334	34958334	+	IGR	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34958334G>T	ENST00000251312.5	+	0	1598				MRM1_ENST00000250156.7_Missense_Mutation_p.G32V|MRM1_ENST00000585770.1_5'Flank	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11							extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(4)	5						CGGCCTGGTGGGGAGGAGCTA	0.677																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(94-96)gGg>gTg		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							61.0	62.0	62.0					17																	34958334		2202	4300	6502	SO:0001628	intergenic_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34958334G>T		CCDS11315.2	17q12	2014-05-06			ENSG00000108272	ENSG00000278535		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	28639	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 24C, member 1"""					12975309, 19027726	Standard	NM_024308		Approved	MGC4172, SDR24C1	uc002hnd.3	Q6UWP2	OTTHUMG00000188442		17.37:g.34958334G>T			Somatic					p.G32V	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	1	334	+		Breast(25;0.00957)|Ovarian(249;0.17)	32					B2RDZ3|Q9BUC7|Q9H674	Missense_Mutation	SNP	ENST00000251312.5	37	c.95G>T	CCDS11315.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311303	0.81358	.	.	ENSG00000129282	ENST00000250156	T	0.55052	0.54	4.79	4.79	0.61399	.	0.154450	0.46145	D	0.000305	T	0.58864	0.2152	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	T	0.60821	-0.7187	10	0.59425	D	0.04	-24.9592	15.0349	0.71738	0.0:0.0:1.0:0.0	.	32	Q6IN84	MRM1_HUMAN	V	32	ENSP00000250156:G32V	ENSP00000250156:G32V	G	+	2	0	MRM1	32032447	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	3.171000	0.50824	2.654000	0.90174	0.555000	0.69702	GGG		0.677	DHRS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256681.2	NM_024308		6	106	6	106	---	---	---	---
MRM1	79922	broad.mit.edu	37	17	34964758	34964758	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:34964758C>A	ENST00000585770.1	+	5	642	c.384C>A	c.(382-384)ccC>ccA	p.P128P	MRM1_ENST00000250156.7_Silent_p.P323P					mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)											NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TCCAAGACCCCCAAGAACCCT	0.567																																						ENST00000250156.7																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(967-969)ccC>ccA		mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)							127.0	131.0	129.0					17																	34964758		2203	4300	6503	SO:0001819	synonymous_variant	79922				RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	g.chr17:34964758C>A	AK026231	CCDS32631.1	17q12	2014-05-06			ENSG00000129282	ENSG00000278619			26202	protein-coding gene	gene with protein product						24036117	Standard	NM_024864		Approved	FLJ22578	uc002hne.3	Q6IN84	OTTHUMG00000188443	ENST00000585770.1:c.384C>A	17.37:g.34964758C>A			Somatic				MRM1_ENST00000585770.1_Silent_p.P128P	p.P323P	NM_024864.3	NP_079140.2	WXS	Illumina GAIIx	Phase_I	Q6IN84	MRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)	5	1208	+		Breast(25;0.00957)|Ovarian(249;0.17)	323						Silent	SNP	ENST00000585770.1	37	c.969C>A																																																																																					0.567	MRM1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000451392.1	NM_024864		7	157	7	157	---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36865473	36865473	+	Silent	SNP	G	G	T	rs144559323		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:36865473G>T	ENST00000325718.7	+	5	493	c.402G>T	c.(400-402)tcG>tcT	p.S134S	CTB-58E17.3_ENST00000583409.1_RNA|MLLT6_ENST00000378137.5_Silent_p.S134S	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	134					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S134S(1)		breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGGCGGCCTCGGGAGCCTGCA	0.642			T	MLL	AL																																	ENST00000325718.7				Dom	yes		17	17q21	4302	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""			L	MLL		AL		1	Substitution - coding silent(1)	p.S134S(1)	lung(1)	breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(400-402)tcG>tcT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6							129.0	134.0	132.0					17																	36865473		2203	4300	6503	SO:0001819	synonymous_variant	4302				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding	g.chr17:36865473G>T		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.402G>T	17.37:g.36865473G>T			Somatic				MLLT6_ENST00000378137.5_Silent_p.S134S	p.S134S	NM_005937.3	NP_005928	WXS	Illumina GAIIx	Phase_I	P55198	AF17_HUMAN			5	493	+	Breast(7;4.43e-21)		134					Q59F28|Q96IU3|Q9H5F6|Q9UF49	Silent	SNP	ENST00000325718.7	37	c.402G>T	CCDS11327.1																																																																																				0.642	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256799.1	NM_005937		8	278	8	278	---	---	---	---
KRT13	3860	broad.mit.edu	37	17	39659272	39659272	+	Missense_Mutation	SNP	G	G	T	rs202015813		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:39659272G>T	ENST00000246635.3	-	4	860	c.814C>A	c.(814-816)Cgc>Agc	p.R272S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000336861.3_Missense_Mutation_p.R272S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	272	Linker 12.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.R272S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602																																						ENST00000246635.3																			1	Substitution - Missense(1)	p.R272S(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33						c.(814-816)Cgc>Agc		keratin 13							222.0	210.0	214.0					17																	39659272		2203	4300	6503	SO:0001583	missense	3860				epidermis development	intermediate filament	structural molecule activity	g.chr17:39659272G>T		CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.814C>A	17.37:g.39659272G>T	ENSP00000246635:p.Arg272Ser		Somatic				KRT13_ENST00000336861.3_Missense_Mutation_p.R272S|KRT13_ENST00000587544.1_Missense_Mutation_p.R272S	p.R272S	NM_153490.2	NP_705694	WXS	Illumina GAIIx	Phase_I	P13646	K1C13_HUMAN			4	860	-		Breast(137;0.000286)	272			Linker 12.|Rod.		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	ENST00000246635.3	37	c.814C>A	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835396	0.71373	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	T;T	0.77620	-1.11;-1.11	4.32	4.32	0.51571	Filament (1);	0.000000	0.47852	D	0.000209	T	0.77665	0.4164	N	0.20766	0.605	0.39278	D	0.964508	P;D;P;D	0.56968	0.947;0.978;0.947;0.978	P;D;P;D	0.71414	0.79;0.973;0.79;0.973	T	0.80374	-0.1409	10	0.66056	D	0.02	.	10.5407	0.45031	0.0:0.0:0.666:0.334	.	260;272;272;272	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	S	272;272;260	ENSP00000246635:R272S;ENSP00000336604:R272S	ENSP00000157775:R260S	R	-	1	0	KRT13	36912798	0.087000	0.21565	0.998000	0.56505	0.884000	0.51177	1.928000	0.40104	2.401000	0.81631	0.561000	0.74099	CGC		0.602	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	NM_153490		6	329	6	329	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40481454	40481454	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40481454C>A	ENST00000264657.5	-	14	1567	c.1255G>T	c.(1255-1257)Ggg>Tgg	p.G419W	STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	419					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCCCCATTCCCACATCTCTGC	0.522									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1255-1257)Ggg>Tgg		signal transducer and activator of transcription 3 (acute-phase response factor)							189.0	201.0	197.0					17																	40481454		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40481454C>A	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1255G>T	17.37:g.40481454C>A	ENSP00000264657:p.Gly419Trp		Somatic				STAT3_ENST00000404395.3_Missense_Mutation_p.G419W|STAT3_ENST00000588969.1_Missense_Mutation_p.G419W|STAT3_ENST00000585517.1_Missense_Mutation_p.G419W|STAT3_ENST00000389272.3_Missense_Mutation_p.G321W	p.G419W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	WXS	Illumina GAIIx	Phase_I	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	14	1567	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	419					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1255G>T	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232199	0.79688	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88201	-2.35;-2.35;-2.35	5.49	5.49	0.81192	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	L	0.49778	1.585	0.58432	D	0.999999	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.71414	0.955;0.973;0.946	D	0.93004	0.6426	10	0.72032	D	0.01	-11.5987	19.5755	0.95441	0.0:1.0:0.0:0.0	.	419;419;419	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	W	419;321;419	ENSP00000264657:G419W;ENSP00000373923:G321W;ENSP00000384943:G419W	ENSP00000264657:G419W	G	-	1	0	STAT3	37734980	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	4.456000	0.60081	2.865000	0.98341	0.655000	0.94253	GGG		0.522	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		8	325	8	325	---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764504	40764504	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:40764504C>A	ENST00000251413.3	+	5	521	c.459C>A	c.(457-459)ctC>ctA	p.L153L	FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	153					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GTTCCTACCTCTTAGAACGGC	0.517																																					Colon(20;114 698 11420 22864)	ENST00000251413.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						c.(457-459)ctC>ctA		tubulin, gamma 1							175.0	166.0	169.0					17																	40764504		2203	4300	6503	SO:0001819	synonymous_variant	7283				G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton	g.chr17:40764504C>A	BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.459C>A	17.37:g.40764504C>A			Somatic					p.L153L	NM_001070.4	NP_001061.2	WXS	Illumina GAIIx	Phase_I	P23258	TBG1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.129)	5	521	+		Breast(137;0.00116)	153					Q53X79|Q9BW59	Silent	SNP	ENST00000251413.3	37	c.459C>A	CCDS11433.1																																																																																				0.517	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	NM_001070		6	160	6	160	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41246133	41246133	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:41246133G>T	ENST00000357654.3	-	10	1533	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.P176H|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	472					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCTTAAGTTGGGGAGGCTTGC	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												ENST00000309486.4			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120						c.(526-528)cCc>cAc	Homologous recombination	breast cancer 1, early onset							129.0	127.0	127.0					17																	41246133		2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41246133G>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1415C>A	17.37:g.41246133G>T	ENSP00000350283:p.Pro472His	TCGA Ovarian(2;0.000030)	Somatic				BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P472H|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.P472H|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.P472H|BRCA1_ENST00000357654.3_Missense_Mutation_p.P472H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.P425H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron	p.P176H	NM_007297.3	NP_009228.2	WXS	Illumina GAIIx	Phase_I	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	1554	-		Breast(137;0.000717)	472					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.527C>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	7.759	0.704951	0.15172	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152;ENST00000497488;ENST00000494123	D;D;D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.57	2.56	0.30785	.	0.504369	0.18606	N	0.136287	D	0.96981	0.9014	H	0.94306	3.52	0.09310	N	1	D;D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.992;0.998	D;D;D;D;D;D	0.87578	0.947;0.947;0.998;0.996;0.938;0.967	D	0.90693	0.4614	10	0.87932	D	0	-2.7546	7.6713	0.28460	0.2631:0.0:0.7369:0.0	.	472;431;472;472;472;472	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	H	472;472;472;472;176;472;425;472;446;176;472	ENSP00000350283:P472H;ENSP00000326002:P472H;ENSP00000246907:P472H;ENSP00000310938:P176H;ENSP00000418960:P472H;ENSP00000418775:P425H;ENSP00000419274:P472H;ENSP00000419988:P446H;ENSP00000418986:P176H;ENSP00000419103:P472H	ENSP00000310938:P176H	P	-	2	0	BRCA1	38499659	0.003000	0.15002	0.012000	0.15200	0.006000	0.05464	0.655000	0.24933	0.647000	0.30713	0.561000	0.74099	CCC		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		7	149	7	149	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48216821	48216821	+	Silent	SNP	G	G	T	rs72840637		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48216821G>T	ENST00000316878.6	-	8	1988	c.1986C>A	c.(1984-1986)ccC>ccA	p.P662P	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	662	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)	p.P661P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCAGCTTCTCGGGCTCCATGT	0.632																																						ENST00000316878.6																			1	Substitution - coding silent(1)	p.P661P(1)	lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1984-1986)ccC>ccA		protein phosphatase 1, regulatory subunit 9B							154.0	167.0	163.0					17																	48216821		2139	4243	6382	SO:0001819	synonymous_variant	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48216821G>T	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1986C>A	17.37:g.48216821G>T			Somatic				AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	p.P662P	NM_032595.3	NP_115984.3	WXS	Illumina GAIIx	Phase_I	Q96SB3	NEB2_HUMAN			8	1988	-			662			Interacts with TGN38 (By similarity).		Q8TCR9	Silent	SNP	ENST00000316878.6	37	c.1986C>A																																																																																					0.632	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		6	216	6	216	---	---	---	---
PPP1R9B	84687	broad.mit.edu	37	17	48221049	48221049	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:48221049C>A	ENST00000316878.6	-	5	1535	c.1533G>T	c.(1531-1533)atG>atT	p.M511I	AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	511	Interacts with RGS2. {ECO:0000250}.|PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CCCCGGCGCCCATGCCGATGA	0.632																																						ENST00000316878.6																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(1531-1533)atG>atT		protein phosphatase 1, regulatory subunit 9B							78.0	87.0	84.0					17																	48221049		2093	4219	6312	SO:0001583	missense	84687				cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis|RNA splicing	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity	g.chr17:48221049C>A	AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.1533G>T	17.37:g.48221049C>A	ENSP00000475417:p.Met511Ile		Somatic				AC002401.1_ENST00000451776.1_RNA|PPP1R9B_ENST00000501501.2_5'UTR	p.M511I	NM_032595.3	NP_115984.3	WXS	Illumina GAIIx	Phase_I	Q96SB3	NEB2_HUMAN			5	1535	-			511			Interacts with RGS2 (By similarity).|PDZ.		Q8TCR9	Missense_Mutation	SNP	ENST00000316878.6	37	c.1533G>T																																																																																					0.632	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_032595		7	113	7	113	---	---	---	---
C17orf47	284083	broad.mit.edu	37	17	56619235	56619235	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:56619235C>A	ENST00000321691.3	-	2	1835	c.1654G>T	c.(1654-1656)Ggg>Tgg	p.G552W	RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	552										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGTCCTCCCATCCCCCAAG	0.488																																						ENST00000321691.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(1654-1656)Ggg>Tgg		chromosome 17 open reading frame 47							153.0	143.0	146.0					17																	56619235		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56619235C>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.1654G>T	17.37:g.56619235C>A	ENSP00000354874:p.Gly552Trp		Somatic				RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	p.G552W	NM_001038704.2	NP_001033793	WXS	Illumina GAIIx	Phase_I	Q8NEP4	CQ047_HUMAN			2	1835	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		552					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.1654G>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938469	0.52972	.	.	ENSG00000181013	ENST00000321691	T	0.33654	1.4	5.14	-0.757	0.11054	.	1.462170	0.04091	N	0.311225	T	0.21509	0.0518	N	0.19112	0.55	0.09310	N	1	P	0.37955	0.612	B	0.33750	0.169	T	0.21075	-1.0256	10	0.66056	D	0.02	1.0306	3.821	0.08836	0.1766:0.2986:0.0:0.5248	.	552	Q8NEP4	CQ047_HUMAN	W	552	ENSP00000354874:G552W	ENSP00000354874:G552W	G	-	1	0	C17orf47	53974234	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.075000	0.11431	-0.014000	0.14175	0.555000	0.69702	GGG		0.488	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704		6	158	6	158	---	---	---	---
CA4	762	broad.mit.edu	37	17	58236707	58236707	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58236707G>T	ENST00000300900.4	+	8	960	c.861G>T	c.(859-861)ccG>ccT	p.P287P		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	287					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|organ development (GO:0048513)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)|transport vesicle membrane (GO:0030658)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Topiramate(DB00273)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	CCGGGGCCCCGGGTCGGCCGC	0.662																																						ENST00000300900.4																			0				kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(859-861)ccG>ccT		carbonic anhydrase IV	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)						13.0	12.0	13.0					17																	58236707		2197	4293	6490	SO:0001819	synonymous_variant	762				bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding	g.chr17:58236707G>T	L10955	CCDS11624.1	17q23.1	2012-08-21			ENSG00000167434	ENSG00000167434	4.2.1.1	"""Carbonic anhydrases"""	1375	protein-coding gene	gene with protein product		114760	"""retinitis pigmentosa 17 (autosomal dominant)"""	RP17		8325641	Standard	NM_000717		Approved	CAIV, Car4	uc002iym.4	P22748		ENST00000300900.4:c.861G>T	17.37:g.58236707G>T			Somatic					p.P287P	NM_000717.3	NP_000708.1	WXS	Illumina GAIIx	Phase_I	P22748	CAH4_HUMAN	Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		8	960	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		287					B4DQA4|Q6FHI7	Silent	SNP	ENST00000300900.4	37	c.861G>T	CCDS11624.1																																																																																				0.662	CA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449189.1	NM_000717		4	11	4	11	---	---	---	---
USP32	84669	broad.mit.edu	37	17	58422902	58422902	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:58422902C>A	ENST00000300896.4	-	2	320	c.126G>T	c.(124-126)atG>atT	p.M42I	USP32_ENST00000393003.3_Missense_Mutation_p.M42I	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	42					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGTGCTGGCCCATGTAATATG	0.438																																						ENST00000300896.4																			0				NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62						c.(124-126)atG>atT		ubiquitin specific peptidase 32							131.0	114.0	119.0					17																	58422902		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58422902C>A	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.126G>T	17.37:g.58422902C>A	ENSP00000300896:p.Met42Ile		Somatic				USP32_ENST00000393003.3_Missense_Mutation_p.M42I	p.M42I	NM_032582.3	NP_115971.2	WXS	Illumina GAIIx	Phase_I	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		2	320	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		42					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.126G>T	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.379738	0.61845	.	.	ENSG00000170832	ENST00000300896;ENST00000393003	T;T	0.30981	1.51;1.51	5.25	5.25	0.73442	EF-hand-like domain (1);	0.081846	0.85682	D	0.000000	T	0.34193	0.0889	L	0.31926	0.97	0.80722	D	1	P;B	0.35872	0.525;0.141	P;B	0.45428	0.48;0.028	T	0.03587	-1.1022	10	0.20046	T	0.44	.	18.5086	0.90907	0.0:1.0:0.0:0.0	.	42;42	Q7Z5T3;Q8NFA0	.;UBP32_HUMAN	I	42	ENSP00000300896:M42I;ENSP00000376727:M42I	ENSP00000300896:M42I	M	-	3	0	USP32	55777684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.656000	0.83736	2.475000	0.83589	0.543000	0.68304	ATG		0.438	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		5	78	5	78	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003831	74003831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74003831C>A	ENST00000301607.3	-	22	5708	c.5455G>T	c.(5455-5457)Ggg>Tgg	p.G1819W	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1819	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCACCGAGCCCGAGAGAGAAG	0.597																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5455-5457)Ggg>Tgg		envoplakin							116.0	127.0	123.0					17																	74003831		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003831C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5455G>T	17.37:g.74003831C>A	ENSP00000301607:p.Gly1819Trp		Somatic				EVPL_ENST00000586740.1_Missense_Mutation_p.G1841W	p.G1819W	NM_001988.2	NP_001979.2	WXS	Illumina GAIIx	Phase_I	Q92817	EVPL_HUMAN			22	5708	-			1819			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5455G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	8.395	0.840715	0.16891	.	.	ENSG00000167880	ENST00000301607	T	0.69806	-0.43	5.25	4.28	0.50868	.	0.279802	0.36893	N	0.002349	T	0.73001	0.3531	L	0.44542	1.39	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.70487	0.969;0.949	T	0.64330	-0.6433	10	0.66056	D	0.02	-73.0209	10.4237	0.44365	0.0:0.8495:0.0:0.1505	.	1841;1819	B7ZLH8;Q92817	.;EVPL_HUMAN	W	1819	ENSP00000301607:G1819W	ENSP00000301607:G1819W	G	-	1	0	EVPL	71515426	0.866000	0.29940	0.300000	0.25030	0.260000	0.26232	1.641000	0.37197	1.197000	0.43143	0.549000	0.68633	GGG		0.597	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		5	166	5	166	---	---	---	---
ST6GALNAC1	55808	broad.mit.edu	37	17	74622831	74622831	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:74622831C>A	ENST00000156626.7	-	5	1412	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	ST6GALNAC1_ENST00000590878.1_5'Flank	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	405					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCCGAGTCCCCACATCCTGT	0.522																																						ENST00000156626.7																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(1213-1215)Ggg>Tgg		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1							228.0	237.0	234.0					17																	74622831		2203	4300	6503	SO:0001583	missense	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74622831C>A	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.1213G>T	17.37:g.74622831C>A	ENSP00000156626:p.Gly405Trp		Somatic					p.G405W	NM_018414.3	NP_060884.1	WXS	Illumina GAIIx	Phase_I	Q9NSC7	SIA7A_HUMAN			5	1412	-			405					Q6UW90|Q9NSC6	Missense_Mutation	SNP	ENST00000156626.7	37	c.1213G>T	CCDS11748.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913314	0.72983	.	.	ENSG00000070526	ENST00000156626;ENST00000359088	D;D	0.87029	-2.2;-2.2	4.84	3.86	0.44501	.	0.062998	0.64402	D	0.000006	D	0.95182	0.8438	H	0.97186	3.955	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.95498	0.8575	10	0.62326	D	0.03	-23.6653	11.7008	0.51569	0.0:0.9169:0.0:0.0831	.	405	Q9NSC7	SIA7A_HUMAN	W	405	ENSP00000156626:G405W;ENSP00000351991:G405W	ENSP00000156626:G405W	G	-	1	0	ST6GALNAC1	72134426	1.000000	0.71417	0.989000	0.46669	0.925000	0.55904	6.452000	0.73485	1.177000	0.42855	0.436000	0.28706	GGG		0.522	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	NM_018414		8	291	8	291	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77808663	77808663	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:77808663C>A	ENST00000269397.4	-	5	955	c.778G>T	c.(778-780)Gga>Tga	p.G260*		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	260	Interaction with BMI1.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACGATGCGTCCGTTCTTGTTC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(778-780)Gga>Tga		chromobox homolog 4							272.0	248.0	256.0					17																	77808663		2201	4292	6493	SO:0001587	stop_gained	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77808663C>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.778G>T	17.37:g.77808663C>A	ENSP00000269397:p.Gly260*		Somatic	OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1178		p.G260*	NM_003655.2	NP_003646.2	WXS	Illumina GAIIx	Phase_I	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	955	-			260			Interaction with BMI1.		B1PJR7|Q6TPI8|Q96C04	Nonsense_Mutation	SNP	ENST00000269397.4	37	c.778G>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	c	37	6.500954	0.97616	.	.	ENSG00000141582	ENST00000269397	.	.	.	3.98	3.98	0.46160	.	0.858235	0.09475	U	0.797198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.1123	16.0829	0.81017	0.0:1.0:0.0:0.0	.	.	.	.	X	260	.	ENSP00000269397:G260X	G	-	1	0	CBX4	75423258	1.000000	0.71417	0.990000	0.47175	0.913000	0.54294	7.116000	0.77119	1.779000	0.52309	0.306000	0.20318	GGA		0.592	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	340	7	340	---	---	---	---
SLC25A10	1468	broad.mit.edu	37	17	79682751	79682751	+	Silent	SNP	C	C	A	rs141437548		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:79682751C>A	ENST00000350690.5	+	4	443	c.357C>A	c.(355-357)ccC>ccA	p.P119P	SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000331531.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P|SLC25A10_ENST00000571730.1_Silent_p.P274P	NM_001270953.1|NM_012140.4	NP_001257882.1|NP_036272.2	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	119					carbohydrate metabolic process (GO:0005975)|cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid transport (GO:0006835)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|ion transport (GO:0006811)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	dicarboxylic acid transmembrane transporter activity (GO:0005310)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGGGGACGCCCGCAGACTTGG	0.657																																						ENST00000331531.5																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14						c.(355-357)ccC>ccA		solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	Succinic acid(DB00139)						104.0	109.0	107.0					17																	79682751		2203	4300	6503	SO:0001819	synonymous_variant	1468				gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	g.chr17:79682751C>A		CCDS11786.1, CCDS59301.1, CCDS74176.1	17q25.3	2013-07-15			ENSG00000183048	ENSG00000183048		"""Solute carriers"""	10980	protein-coding gene	gene with protein product		606794		DIC		9733776, 10072589	Standard	NM_001270953		Approved		uc031rew.1	Q9UBX3	OTTHUMG00000178173	ENST00000350690.5:c.357C>A	17.37:g.79682751C>A			Somatic				SLC25A10_ENST00000541223.1_Silent_p.P274P|SLC25A10_ENST00000571730.1_Silent_p.P274P|SLC25A10_ENST00000350690.5_Silent_p.P119P|SLC25A10_ENST00000545862.1_Silent_p.P76P	p.P119P	NM_001270888.1	NP_001257817.1	WXS	Illumina GAIIx	Phase_I	Q9UBX3	DIC_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		4	477	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		119					Q542Z3|Q96BA1|Q96IP1	Silent	SNP	ENST00000350690.5	37	c.357C>A	CCDS11786.1																																																																																				0.657	SLC25A10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000440816.1			6	139	6	139	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80399061	80399061	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:80399061C>A	ENST00000327949.9	+	10	1093	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H	HEXDC_ENST00000337014.6_Missense_Mutation_p.L391M|HEXDC_ENST00000577944.1_Silent_p.P363P			Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	361					carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	beta-N-acetylhexosaminidase activity (GO:0004563)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGCTCCTTCCCTGGCAGCAAC	0.657																																						ENST00000337014.6																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1171-1173)Ctg>Atg		hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing							62.0	69.0	67.0					17																	80399061		2021	4182	6203	SO:0001583	missense	284004				carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding	g.chr17:80399061C>A	AK074405	CCDS42402.1	17q25.3	2011-12-19			ENSG00000169660	ENSG00000169660			26307	protein-coding gene	gene with protein product						12477932	Standard	NM_173620		Approved	FLJ23825	uc002kev.4	Q8WVB3		ENST00000327949.9:c.1082C>A	17.37:g.80399061C>A	ENSP00000332634:p.Pro361His		Somatic				HEXDC_ENST00000327949.9_Missense_Mutation_p.P361H|HEXDC_ENST00000577944.1_Silent_p.P363P	p.L391M	NM_173620.2	NP_775891.2	WXS	Illumina GAIIx	Phase_I	Q8WVB3	HEXDC_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)		10	1645	+	Breast(20;0.00106)|all_neural(118;0.0804)		0					B7UUP6|Q8IYN4|Q8TE81	Missense_Mutation	SNP	ENST00000327949.9	37	c.1171C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.37|13.37	2.217894|2.217894	0.39201|0.39201	.|.	.|.	ENSG00000169660|ENSG00000169660	ENST00000337014|ENST00000327949	T|T	0.42900|0.38240	0.96|1.15	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	1.302630|.	0.05130|.	N|.	0.492347|.	T|T	0.62672|0.62672	0.2447|0.2447	.|.	.|.	.|.	0.58432|0.58432	D|D	0.99999|0.99999	D|D	0.58620|0.89917	0.983|1.0	P|D	0.58873|0.80764	0.847|0.994	T|T	0.67929|0.67929	-0.5543|-0.5543	9|8	0.42905|0.87932	T|D	0.14|0	-3.5713|-3.5713	17.5129|17.5129	0.87765|0.87765	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	391|361	Q8WVB3-2|Q8WVB3	.|HEXDC_HUMAN	M|H	391|361	ENSP00000337854:L391M|ENSP00000332634:P361H	ENSP00000337854:L391M|ENSP00000332634:P361H	L|P	+|+	1|2	2|0	HEXDC|HEXDC	77992350|77992350	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.057000|0.057000	0.15508|0.15508	5.613000|5.613000	0.67688|0.67688	2.374000|2.374000	0.81015|0.81015	0.563000|0.563000	0.77884|0.77884	CTG|CCT		0.657	HEXDC-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000443513.1	NM_173620		6	126	6	126	---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9570166	9570166	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:9570166G>T	ENST00000400556.3	-	11	1635	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	521					dephosphorylation (GO:0016311)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase 4 complex (GO:0030289)	protein phosphatase type 4 regulator activity (GO:0030362)			large_intestine(1)|skin(2)	3						TTTAACATCTGGATCATCAAT	0.353																																					Melanoma(188;1232 2082 5061 11948 35994)	ENST00000400556.3																			0				large_intestine(1)|skin(2)	3						c.(1561-1563)cCa>cAa		protein phosphatase 4, regulatory subunit 1							119.0	113.0	115.0					18																	9570166		1824	4089	5913	SO:0001583	missense	9989				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	g.chr18:9570166G>T	AF111106	CCDS42412.1, CCDS42413.1	18p11.22	2010-06-18			ENSG00000154845	ENSG00000154845		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	9320	protein-coding gene	gene with protein product		604908				10026142	Standard	NM_001042388		Approved	PP4R1	uc002koe.2	Q8TF05	OTTHUMG00000137466	ENST00000400556.3:c.1562C>A	18.37:g.9570166G>T	ENSP00000383402:p.Pro521Gln		Somatic				PPP4R1_ENST00000400555.3_Missense_Mutation_p.P504Q	p.P521Q	NM_001042388.2	NP_001035847.1	WXS	Illumina GAIIx	Phase_I	Q8TF05	PP4R1_HUMAN			11	1635	-			521					Q99774|Q9UNQ7	Missense_Mutation	SNP	ENST00000400556.3	37	c.1562C>A	CCDS42412.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220695	0.79464	.	.	ENSG00000154845	ENST00000400556;ENST00000400555;ENST00000285124	T;T	0.18338	2.22;2.22	5.43	5.43	0.79202	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	M	0.81802	2.56	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.996;0.998	T	0.41413	-0.9510	9	.	.	.	-19.9902	19.5973	0.95546	0.0:0.0:1.0:0.0	.	504;521;504	A8K923;Q8TF05;Q8TF05-2	.;PP4R1_HUMAN;.	Q	521;504;432	ENSP00000383402:P521Q;ENSP00000383401:P504Q	.	P	-	2	0	PPP4R1	9560166	1.000000	0.71417	0.964000	0.40570	0.995000	0.86356	7.894000	0.87336	2.700000	0.92200	0.591000	0.81541	CCA		0.353	PPP4R1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268571.1	NM_005134		5	100	5	100	---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154035	19154035	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19154035G>T	ENST00000269214.5	-	4	1707	c.770C>A	c.(769-771)cCg>cAg	p.P257Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	257					mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|regulation of DNA replication (GO:0006275)|sister chromatid cohesion (GO:0007062)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|transferase activity, transferring acyl groups (GO:0016746)	p.P257Q(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTCTTTTTCGGGACCACTGA	0.413																																						ENST00000269214.5																			1	Substitution - Missense(1)	p.P257Q(1)	lung(1)	breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(769-771)cCg>cAg		establishment of sister chromatid cohesion N-acetyltransferase 1							212.0	213.0	212.0					18																	19154035		2203	4300	6503	SO:0001583	missense	114799				cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	g.chr18:19154035G>T	AL832041	CCDS32800.1	18q11.2	2013-05-02	2013-05-02		ENSG00000141446	ENSG00000141446			24645	protein-coding gene	gene with protein product		609674	"""establishment of cohesion 1 homolog 1 (S. cerevisiae)"""			11572484, 14576321, 15958495	Standard	NM_052911		Approved	ESO1, EFO1, KIAA1911	uc002kth.1	Q5FWF5		ENST00000269214.5:c.770C>A	18.37:g.19154035G>T	ENSP00000269214:p.Pro257Gln		Somatic					p.P257Q	NM_052911.2	NP_443143.2	WXS	Illumina GAIIx	Phase_I	Q5FWF5	ESCO1_HUMAN			4	1707	-			257					B0YJ11|B0YJ12|Q69YG4|Q69YS3|Q6IMD7|Q8N3Z5|Q8NBG2|Q96PX7	Missense_Mutation	SNP	ENST00000269214.5	37	c.770C>A	CCDS32800.1	.	.	.	.	.	.	.	.	.	.	G	3.207	-0.162437	0.06502	.	.	ENSG00000141446	ENST00000269214;ENST00000383276	T;T	0.59772	0.24;1.78	5.5	2.67	0.31697	.	0.729321	0.12777	N	0.439945	T	0.37571	0.1008	N	0.14661	0.345	0.09310	N	1	B	0.28055	0.199	B	0.27262	0.078	T	0.19712	-1.0297	10	0.29301	T	0.29	-7.2769	8.7342	0.34519	0.0768:0.2858:0.6374:0.0	.	257	Q5FWF5	ESCO1_HUMAN	Q	257	ENSP00000269214:P257Q;ENSP00000372763:P257Q	ENSP00000269214:P257Q	P	-	2	0	ESCO1	17408033	0.973000	0.33851	0.554000	0.28268	0.196000	0.23810	2.101000	0.41787	0.264000	0.21851	0.655000	0.94253	CCG		0.413	ESCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443942.1	NM_052911		7	327	7	327	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19780663	19780663	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19780663C>A	ENST00000269216.3	+	7	1942	c.1665C>A	c.(1663-1665)ccC>ccA	p.P555P	RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	555					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|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 beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCAATCCCGAGAACAGCG	0.607																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(1663-1665)ccC>ccA		GATA binding protein 6							99.0	89.0	93.0					18																	19780663		2203	4300	6503	SO:0001819	synonymous_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19780663C>A	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.1665C>A	18.37:g.19780663C>A			Somatic				RP11-627G18.1_ENST00000583442.1_RNA|GATA6_ENST00000581694.1_Silent_p.P555P	p.P555P	NM_005257.4	NP_005248.2	WXS	Illumina GAIIx	Phase_I	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		7	1942	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		555					B0YJ17|P78327	Silent	SNP	ENST00000269216.3	37	c.1665C>A	CCDS11872.1																																																																																				0.607	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		5	134	5	134	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28993143	28993143	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:28993143G>T	ENST00000308128.4	+	16	2843	c.2708G>T	c.(2707-2709)gGg>gTg	p.G903V	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.G922V|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	903					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGGTCCATGGGGATATTATT	0.423																																						ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2764-2766)gGg>gTg		desmoglein 4							154.0	145.0	148.0					18																	28993143		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28993143G>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2708G>T	18.37:g.28993143G>T	ENSP00000311859:p.Gly903Val		Somatic				DSG4_ENST00000308128.4_Missense_Mutation_p.G903V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	p.G922V	NM_001134453.1	NP_001127925.1	WXS	Illumina GAIIx	Phase_I	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2794	+			903					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2765G>T	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508298	0.44660	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.68903	-0.36;-0.35	5.65	5.65	0.86999	.	0.000000	0.35436	N	0.003213	D	0.83142	0.5190	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.964	D	0.84618	0.0682	10	0.87932	D	0	.	19.3326	0.94297	0.0:0.0:1.0:0.0	.	922;903	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	V	903;922	ENSP00000311859:G903V;ENSP00000352785:G922V	ENSP00000311859:G903V	G	+	2	0	DSG4	27247141	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	4.517000	0.60503	2.655000	0.90218	0.655000	0.94253	GGG		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		6	138	6	138	---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44260212	44260212	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44260212C>A	ENST00000315087.7	-	7	1584	c.924G>T	c.(922-924)gcG>gcT	p.A308A	ST8SIA5_ENST00000538168.1_Silent_p.A344A|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	308					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GCTCCAGCGCCGCAGTGACCA	0.607																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(922-924)gcG>gcT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							93.0	95.0	94.0					18																	44260212		2203	4300	6503	SO:0001819	synonymous_variant	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260212C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.924G>T	18.37:g.44260212C>A			Somatic				ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.A277A|ST8SIA5_ENST00000538168.1_Silent_p.A344A	p.A308A	NM_013305.4	NP_037437.2	WXS	Illumina GAIIx	Phase_I	O15466	SIA8E_HUMAN			7	1584	-			308					B7Z1K9|Q6IAW7	Silent	SNP	ENST00000315087.7	37	c.924G>T	CCDS11930.1																																																																																				0.607	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		4	100	4	100	---	---	---	---
ST8SIA5	29906	broad.mit.edu	37	18	44284609	44284609	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:44284609C>A	ENST00000315087.7	-	2	810	c.150G>T	c.(148-150)gaG>gaT	p.E50D	ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	50					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAAAAGGCCCCTCATAAAATT	0.512																																						ENST00000315087.7																			0				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						c.(148-150)gaG>gaT		ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5							114.0	111.0	112.0					18																	44284609		2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44284609C>A	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.150G>T	18.37:g.44284609C>A	ENSP00000321343:p.Glu50Asp		Somatic				ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Intron|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.E86D	p.E50D	NM_013305.4	NP_037437.2	WXS	Illumina GAIIx	Phase_I	O15466	SIA8E_HUMAN			2	810	-			50					B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.150G>T	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	8.471	0.857584	0.17106	.	.	ENSG00000101638	ENST00000315087;ENST00000538168	T;T	0.43294	0.95;1.11	4.48	3.61	0.41365	.	0.292551	0.37012	N	0.002286	T	0.23766	0.0575	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.05699	-1.0869	10	0.15952	T	0.53	.	6.6805	0.23117	0.0:0.7146:0.0:0.2854	.	86;50	B7Z1K9;O15466	.;SIA8E_HUMAN	D	50;86	ENSP00000321343:E50D;ENSP00000445492:E86D	ENSP00000321343:E50D	E	-	3	2	ST8SIA5	42538607	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.715000	0.25822	1.024000	0.39682	0.561000	0.74099	GAG		0.512	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		6	128	6	128	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812543	47812543	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:47812543C>A	ENST00000285106.6	-	4	1022	c.308G>T	c.(307-309)cGg>cTg	p.R103L	CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L|CXXC1_ENST00000587396.1_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	103					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)	p.R103L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCCTCATCCCGGGGCTCACT	0.642																																						ENST00000285106.6																			1	Substitution - Missense(1)	p.R103L(1)	lung(1)	autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(307-309)cGg>cTg		CXXC finger protein 1							100.0	108.0	105.0					18																	47812543		2203	4300	6503	SO:0001583	missense	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812543C>A	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.308G>T	18.37:g.47812543C>A	ENSP00000285106:p.Arg103Leu		Somatic				CXXC1_ENST00000412036.2_Missense_Mutation_p.R103L|CXXC1_ENST00000589940.1_Missense_Mutation_p.R103L	p.R103L	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	WXS	Illumina GAIIx	Phase_I	Q9P0U4	CXXC1_HUMAN			4	1022	-			103					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	Missense_Mutation	SNP	ENST00000285106.6	37	c.308G>T	CCDS11945.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054322	0.36277	.	.	ENSG00000154832	ENST00000285106;ENST00000412036	T;T	0.23552	1.9;1.91	4.1	4.1	0.47936	.	0.169689	0.42172	D	0.000760	T	0.17408	0.0418	N	0.19112	0.55	0.38003	D	0.934293	P;P;P;P	0.46578	0.835;0.88;0.756;0.642	B;B;B;B	0.41988	0.176;0.086;0.372;0.206	T	0.08310	-1.0728	10	0.35671	T	0.21	-19.5997	12.2138	0.54394	0.0:1.0:0.0:0.0	.	103;103;103;103	B4DGL1;B2RC03;Q9P0U4-2;Q9P0U4	.;.;.;CXXC1_HUMAN	L	103	ENSP00000285106:R103L;ENSP00000390475:R103L	ENSP00000285106:R103L	R	-	2	0	CXXC1	46066541	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.852000	0.39348	2.033000	0.60031	0.442000	0.29010	CGG		0.642	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		6	166	6	166	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179270	65179270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:65179270G>T	ENST00000310045.7	-	2	4079	c.2606C>A	c.(2605-2607)tCa>tAa	p.S869*	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	859					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				ACCAGGAAGTGAGGTAATGAC	0.428																																						ENST00000310045.7																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74						c.(2605-2607)tCa>tAa		dermatan sulfate epimerase-like							204.0	200.0	202.0					18																	65179270		2203	4300	6503	SO:0001587	stop_gained	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179270G>T	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2606C>A	18.37:g.65179270G>T	ENSP00000310565:p.Ser869*		Somatic				CTD-2541J13.2_ENST00000583493.1_RNA	p.S869*	NM_032160.2	NP_115536.1	WXS	Illumina GAIIx	Phase_I	Q8IZU8	DSEL_HUMAN			2	4079	-		Esophageal squamous(42;0.129)	859					Q17RH1|Q6P5Z3	Nonsense_Mutation	SNP	ENST00000310045.7	37	c.2606C>A	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	51	18.242901	0.99901	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	.	.	.	4.99	4.99	0.66335	.	0.353194	0.26605	U	0.023443	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3571	18.2753	0.90081	0.0:0.0:1.0:0.0	.	.	.	.	X	869;859	.	ENSP00000310565:S869X	S	-	2	0	DSEL	63330250	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.821000	0.86641	2.314000	0.78098	0.462000	0.41574	TCA		0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		7	356	7	356	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74637406	74637406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:74637406C>A	ENST00000253159.8	+	22	4115	c.3917C>A	c.(3916-3918)cCa>cAa	p.P1306Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1306					cellular response to glucose stimulus (GO:0071333)|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(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTACTGACCCAAACGTGTTT	0.488																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(3916-3918)cCa>cAa		zinc finger protein 236							87.0	85.0	85.0					18																	74637406		1997	4166	6163	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74637406C>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3917C>A	18.37:g.74637406C>A	ENSP00000253159:p.Pro1306Gln		Somatic				ZNF236_ENST00000320610.9_Missense_Mutation_p.P1308Q	p.P1306Q	NM_007345.3	NP_031371.3	WXS	Illumina GAIIx	Phase_I	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	22	4115	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	1306					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.3917C>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	18.91	3.723619	0.68959	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.14640	2.49;2.71	4.53	4.53	0.55603	.	0.064498	0.64402	D	0.000007	T	0.20941	0.0504	L	0.34521	1.04	0.35404	D	0.791816	D	0.57899	0.981	P	0.52758	0.708	T	0.19647	-1.0299	10	0.87932	D	0	.	17.6314	0.88109	0.0:1.0:0.0:0.0	.	1306	Q9UL36	ZN236_HUMAN	Q	1306	ENSP00000253159:P1306Q;ENSP00000444524:P1306Q	ENSP00000253159:P1306Q	P	+	2	0	ZNF236	72766394	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	5.605000	0.67634	2.216000	0.71823	0.557000	0.71058	CCA		0.488	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			5	105	5	105	---	---	---	---
AES	166	broad.mit.edu	37	19	3055700	3055700	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:3055700C>A	ENST00000327141.4	-	5	615	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	AC005944.2_ENST00000592758.1_RNA|AES_ENST00000586839.1_Missense_Mutation_p.G31W|AES_ENST00000592330.1_Intron|AES_ENST00000221561.8_Missense_Mutation_p.G154W	NM_001130.5|NM_198970.1	NP_001121.2|NP_945321.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	87	Gln-rich (Q domain).				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of gene expression (GO:0010629)|negative regulation of protein binding (GO:0032091)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|positive regulation of anoikis (GO:2000210)|response to interleukin-1 (GO:0070555)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			lung(8)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACAAATCCCGTTCAGCCTT	0.652																																					Pancreas(11;265 407 11814 26840 35326)	ENST00000221561.8																			0				lung(8)	8						c.(460-462)Ggg>Tgg		amino-terminal enhancer of split							81.0	76.0	78.0					19																	3055700		2203	4300	6503	SO:0001583	missense	166				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3055700C>A	AK094591	CCDS12101.1, CCDS12102.1	19p13.3	2008-02-05							307	protein-coding gene	gene with protein product		600188				8365415	Standard	NM_001130		Approved	GRG5, TLE5	uc002lwx.1	Q08117		ENST00000327141.4:c.259G>T	19.37:g.3055700C>A	ENSP00000317537:p.Gly87Trp		Somatic				AES_ENST00000327141.4_Missense_Mutation_p.G87W|AES_ENST00000592330.1_Intron|AES_ENST00000586839.1_Missense_Mutation_p.G31W	p.G154W	NM_198969.1	NP_945320.1	WXS	Illumina GAIIx	Phase_I	Q08117	AES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	639	-		Hepatocellular(1079;0.137)	87			Gly/Pro-rich (GP domain).		B2RBL0|Q12808|Q14CJ1|Q96TG9|Q9UDY9	Missense_Mutation	SNP	ENST00000327141.4	37	c.460G>T	CCDS12102.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003372	0.74932	.	.	ENSG00000104964	ENST00000221561;ENST00000327141	T;T	0.46819	0.86;0.92	4.09	2.96	0.34315	Groucho/TLE, N-terminal Q-rich domain (1);	0.187532	0.45606	U	0.000351	T	0.59088	0.2168	L	0.46157	1.445	0.53688	D	0.99997	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.957	T	0.63125	-0.6707	10	0.87932	D	0	.	11.8484	0.52397	0.0:0.8218:0.1782:0.0	.	154;87	Q14CJ1;Q08117	.;AES_HUMAN	W	154;87	ENSP00000221561:G154W;ENSP00000317537:G87W	ENSP00000221561:G154W	G	-	1	0	AES	3006700	0.998000	0.40836	1.000000	0.80357	0.932000	0.56968	5.539000	0.67199	1.835000	0.53391	0.655000	0.94253	GGG		0.652	AES-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452154.1	NM_198969		4	79	4	79	---	---	---	---
MYO1F	4542	broad.mit.edu	37	19	8595449	8595449	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:8595449G>T	ENST00000338257.8	-	20	2319	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	684	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCTCCTCCAGGAGGAAAAGCT	0.652																																						ENST00000338257.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						c.(2050-2052)ctC>ctA		myosin IF							53.0	57.0	55.0					19																	8595449		1948	4129	6077	SO:0001819	synonymous_variant	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8595449G>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.2052C>A	19.37:g.8595449G>T			Somatic					p.L684L	NM_012335.3	NP_036467.2	WXS	Illumina GAIIx	Phase_I	O00160	MYO1F_HUMAN			20	2319	-			684					Q8WWN7	Silent	SNP	ENST00000338257.8	37	c.2052C>A	CCDS42494.1																																																																																				0.652	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			6	104	6	104	---	---	---	---
CCDC151	115948	broad.mit.edu	37	19	11531589	11531589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:11531589C>A	ENST00000356392.4	-	13	1789	c.1702G>T	c.(1702-1704)Gag>Tag	p.E568*	CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*|RGL3_ENST00000393423.3_5'Flank|RGL3_ENST00000380456.3_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	568										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						GTCACTACCTCGTTGTCCTCC	0.577																																						ENST00000356392.4																			0				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						c.(1702-1704)Gag>Tag		coiled-coil domain containing 151							114.0	124.0	120.0					19																	11531589		2039	4175	6214	SO:0001587	stop_gained	115948							g.chr19:11531589C>A		CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1702G>T	19.37:g.11531589C>A	ENSP00000348757:p.Glu568*		Somatic				CCDC151_ENST00000545100.1_Nonsense_Mutation_p.E514*|CCDC151_ENST00000591179.1_Nonsense_Mutation_p.E508*|CCDC151_ENST00000586836.1_Nonsense_Mutation_p.E377*	p.E568*	NM_145045.4	NP_659482.3	WXS	Illumina GAIIx	Phase_I	A5D8V7	CC151_HUMAN			13	1789	-			568					B4DXT0|Q96CG5	Nonsense_Mutation	SNP	ENST00000356392.4	37	c.1702G>T	CCDS42501.1	.	.	.	.	.	.	.	.	.	.	C	19.26	3.793129	0.70452	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	.	.	.	4.25	-6.84	0.01687	.	0.537430	0.17133	N	0.185760	.	.	.	.	.	.	0.47905	D	0.999549	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.6621	2.1235	0.03731	0.1068:0.3748:0.2138:0.3046	.	.	.	.	X	514;568;547	.	ENSP00000348757:E568X	E	-	1	0	CCDC151	11392589	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	0.075000	0.14686	-2.307000	0.00653	-2.649000	0.00149	GAG		0.577	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458800.1	NM_145045		4	96	4	96	---	---	---	---
SYDE1	85360	broad.mit.edu	37	19	15224692	15224692	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15224692C>A	ENST00000342784.2	+	8	2157	c.2126C>A	c.(2125-2127)cCg>cAg	p.P709Q	SYDE1_ENST00000600252.1_Missense_Mutation_p.P366Q|SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	709					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CCCTTCAACCCGCACCTGAAT	0.607																																						ENST00000600252.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1096-1098)cCg>cAg		synapse defective 1, Rho GTPase, homolog 1 (C. elegans)							141.0	151.0	147.0					19																	15224692		2203	4300	6503	SO:0001583	missense	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224692C>A	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.2126C>A	19.37:g.15224692C>A	ENSP00000341489:p.Pro709Gln		Somatic				SYDE1_ENST00000600440.1_Missense_Mutation_p.P642Q|SYDE1_ENST00000342784.2_Missense_Mutation_p.P709Q	p.P366Q			WXS	Illumina GAIIx	Phase_I	Q6ZW31	SYDE1_HUMAN			5	2739	+			709					Q7L2I8|Q8N6J2|Q9H8K4	Missense_Mutation	SNP	ENST00000342784.2	37	c.1097C>A	CCDS12324.1	.	.	.	.	.	.	.	.	.	.	C	17.48	3.400060	0.62177	.	.	ENSG00000105137	ENST00000342784	T	0.55930	0.49	5.43	5.43	0.79202	.	0.400908	0.26631	N	0.023301	T	0.45736	0.1357	N	0.16368	0.405	0.27353	N	0.956193	B;P;B	0.51537	0.009;0.946;0.003	B;P;B	0.52823	0.021;0.71;0.013	T	0.31888	-0.9927	10	0.10636	T	0.68	.	14.7142	0.69254	0.0:1.0:0.0:0.0	.	642;642;709	B2RD93;Q6ZW31-2;Q6ZW31	.;.;SYDE1_HUMAN	Q	709	ENSP00000341489:P709Q	ENSP00000341489:P709Q	P	+	2	0	SYDE1	15085692	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.300000	0.65721	2.547000	0.85894	0.491000	0.48974	CCG		0.607	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		7	201	7	201	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15794491	15794491	+	Missense_Mutation	SNP	C	C	A	rs567584411		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:15794491C>A	ENST00000550308.1	+	7	1216	c.836C>A	c.(835-837)cCc>cAc	p.P279H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	279					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGCACCCTCCCCACTCAGGGT	0.532																																						ENST00000550308.1																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(835-837)cCc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 12							106.0	105.0	105.0					19																	15794491		2201	4298	6499	SO:0001583	missense	66002							g.chr19:15794491C>A	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.836C>A	19.37:g.15794491C>A	ENSP00000448998:p.Pro279His		Somatic				CYP4F12_ENST00000324632.10_Missense_Mutation_p.P279H	p.P279H	NM_023944.3	NP_076433	WXS	Illumina GAIIx	Phase_I					7	1216	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.836C>A	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	1.751	-0.489236	0.04352	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.68479	-0.33;-0.33	2.47	0.156	0.14910	.	0.986178	0.08244	U	0.975721	T	0.53012	0.1770	L	0.39245	1.2	0.09310	N	1	B	0.10296	0.003	B	0.18263	0.021	T	0.45600	-0.9250	10	0.51188	T	0.08	.	3.2369	0.06767	0.4572:0.3992:0.0:0.1435	.	279	Q9HCS2	CP4FC_HUMAN	H	279	ENSP00000448998:P279H;ENSP00000321821:P279H	ENSP00000321821:P279H	P	+	2	0	CYP4F12	15655491	0.000000	0.05858	0.014000	0.15608	0.341000	0.28922	-0.600000	0.05693	0.107000	0.17824	0.491000	0.48974	CCC		0.532	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			7	141	7	141	---	---	---	---
KLHL26	55295	broad.mit.edu	37	19	18780060	18780060	+	3'UTR	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:18780060C>A	ENST00000300976.4	+	0	1943				KLHL26_ENST00000599006.1_Silent_p.P138P	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26											breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGGTAGCCCCCAAGACCCCCG	0.701																																						ENST00000599006.1																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(412-414)ccC>ccA		kelch-like family member 26							19.0	25.0	23.0					19																	18780060		2142	4188	6330	SO:0001624	3_prime_UTR_variant	55295							g.chr19:18780060C>A		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.*5C>A	19.37:g.18780060C>A			Somatic				KLHL26_ENST00000300976.4_3'UTR	p.P138P			WXS	Illumina GAIIx	Phase_I	Q53HC5	KLH26_HUMAN			4	441	+			0					Q8TAP0|Q9NUX3	Silent	SNP	ENST00000300976.4	37	c.414C>A	CCDS12384.1																																																																																				0.701	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		5	70	5	70	---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19339217	19339217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:19339217C>A	ENST00000252575.6	+	8	2887	c.2788C>A	c.(2788-2790)Cct>Act	p.P930T	NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	930					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	GGCTGTTCCTCCTGGGACACC	0.637																																						ENST00000252575.6																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2788-2790)Cct>Act		neurocan							87.0	89.0	88.0					19																	19339217		2203	4300	6503	SO:0001583	missense	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19339217C>A	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2788C>A	19.37:g.19339217C>A	ENSP00000252575:p.Pro930Thr		Somatic				NCAN_ENST00000538881.1_Missense_Mutation_p.P381T	p.P930T	NM_004386.2	NP_004377.2	WXS	Illumina GAIIx	Phase_I	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2887	+								Q9UPK6	Missense_Mutation	SNP	ENST00000252575.6	37	c.2788C>A	CCDS12397.1	.	.	.	.	.	.	.	.	.	.	C	6.924	0.540182	0.13250	.	.	ENSG00000130287	ENST00000539499;ENST00000252575;ENST00000538881	D;D	0.85955	-1.87;-2.05	2.48	1.43	0.22495	.	0.219310	0.23468	N	0.047844	T	0.71213	0.3313	L	0.32530	0.975	0.09310	N	1	B;P	0.37061	0.437;0.58	B;B	0.34536	0.115;0.185	T	0.58674	-0.7595	10	0.24483	T	0.36	.	5.4585	0.16604	0.0:0.8384:0.0:0.1616	.	944;930	Q4LE67;O14594	.;NCAN_HUMAN	T	944;930;381	ENSP00000252575:P930T;ENSP00000442202:P381T	ENSP00000252575:P930T	P	+	1	0	NCAN	19200217	0.001000	0.12720	0.121000	0.21740	0.041000	0.13682	0.513000	0.22770	0.652000	0.30806	-0.333000	0.08304	CCT		0.637	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		7	146	7	146	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31039790	31039790	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31039790G>T	ENST00000355537.3	+	4	3411	c.3264G>T	c.(3262-3264)ctG>ctT	p.L1088L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1088					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGAGACTCTGGGAGAGCAGA	0.517																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3262-3264)ctG>ctT		zinc finger protein 536							70.0	79.0	76.0					19																	31039790		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039790G>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3264G>T	19.37:g.31039790G>T			Somatic					p.L1088L	NM_014717.1	NP_055532.1	WXS	Illumina GAIIx	Phase_I	O15090	ZN536_HUMAN			4	3411	+	Esophageal squamous(110;0.0834)		1088					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3264G>T	CCDS32984.1																																																																																				0.517	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	67	5	67	---	---	---	---
TSHZ3	57616	broad.mit.edu	37	19	31769360	31769360	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:31769360G>T	ENST00000240587.4	-	2	1666	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	447					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGCTGCCAGGGGCACGGAC	0.557																																						ENST00000240587.4																			0				breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(1339-1341)Ctg>Atg		teashirt zinc finger homeobox 3							105.0	105.0	105.0					19																	31769360		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769360G>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1339C>A	19.37:g.31769360G>T	ENSP00000240587:p.Leu447Met		Somatic					p.L447M	NM_020856.2	NP_065907.2	WXS	Illumina GAIIx	Phase_I	Q63HK5	TSH3_HUMAN			2	1666	-	Esophageal squamous(110;0.226)		447					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1339C>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	15.65	2.894937	0.52121	.	.	ENSG00000121297	ENST00000240587	T	0.14144	2.53	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	T	0.37320	0.0999	M	0.64404	1.975	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.05699	-1.0869	10	0.59425	D	0.04	-19.4073	19.0877	0.93212	0.0:0.0:1.0:0.0	.	447	Q63HK5	TSH3_HUMAN	M	447	ENSP00000240587:L447M	ENSP00000240587:L447M	L	-	1	2	TSHZ3	36461200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	2.489000	0.83994	0.655000	0.94253	CTG		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		6	123	6	123	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34857283	34857283	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:34857283G>T	ENST00000356487.5	+	2	397	c.156G>T	c.(154-156)ctG>ctT	p.L52L	GPI_ENST00000415930.3_Silent_p.L91L|GPI_ENST00000586425.1_Silent_p.L52L	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	52					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGCATATCCTGGTGGATTACT	0.552																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(271-273)ctG>ctT		glucose-6-phosphate isomerase							261.0	197.0	218.0					19																	34857283		2203	4300	6503	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34857283G>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.156G>T	19.37:g.34857283G>T			Somatic				GPI_ENST00000356487.5_Silent_p.L52L|GPI_ENST00000586425.1_Silent_p.L52L	p.L91L	NM_001184722.1	NP_001171651.1	WXS	Illumina GAIIx	Phase_I	P06744	G6PI_HUMAN			3	443	+	Esophageal squamous(110;0.162)		52					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.273G>T	CCDS12437.1																																																																																				0.552	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			7	160	7	160	---	---	---	---
GAPDHS	26330	broad.mit.edu	37	19	36027833	36027833	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36027833C>A	ENST00000222286.4	+	2	302	c.186C>A	c.(184-186)ccC>ccA	p.P62P		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	62	Testis-specific N-terminal extension.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCTCACCCCGCTACTCCTC	0.592																																						ENST00000222286.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11						c.(184-186)ccC>ccA		glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	NADH(DB00157)						241.0	211.0	222.0					19																	36027833		2203	4300	6503	SO:0001819	synonymous_variant	26330				gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding	g.chr19:36027833C>A	AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.186C>A	19.37:g.36027833C>A			Somatic					p.P62P	NM_014364.4	NP_055179.1	WXS	Illumina GAIIx	Phase_I	O14556	G3PT_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	302	+	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		62					B2RC82|O60823|Q6JTT9|Q9HCU6	Silent	SNP	ENST00000222286.4	37	c.186C>A	CCDS12465.1																																																																																				0.592	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460423.1	NM_014364		5	99	5	99	---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36508789	36508789	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36508789C>A	ENST00000360535.4	-	10	1515	c.1288G>T	c.(1288-1290)Ggg>Tgg	p.G430W	CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	430					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCACGATCCCCTGCTTCTGG	0.632																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(1288-1290)Ggg>Tgg		CAP-GLY domain containing linker protein 3							100.0	93.0	95.0					19																	36508789		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36508789C>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.1288G>T	19.37:g.36508789C>A	ENSP00000353732:p.Gly430Trp		Somatic				CLIP3_ENST00000593074.1_Missense_Mutation_p.G430W|AC002116.7_ENST00000586962.1_RNA	p.G430W	NM_015526.2	NP_056341.1	WXS	Illumina GAIIx	Phase_I	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		10	1515	-	Esophageal squamous(110;0.162)		430					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.1288G>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484623	0.84854	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	D	0.90900	-2.75	4.75	4.75	0.60458	Cytoskeleton-associated protein, Gly-rich domain (3);	0.000000	0.85682	D	0.000000	D	0.97448	0.9165	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98768	1.0727	10	0.87932	D	0	-26.8268	15.2748	0.73734	0.0:1.0:0.0:0.0	.	430	Q96DZ5	CLIP3_HUMAN	W	430;312;406	ENSP00000353732:G430W	ENSP00000353732:G430W	G	-	1	0	CLIP3	41200629	1.000000	0.71417	0.996000	0.52242	0.851000	0.48451	7.090000	0.76916	2.473000	0.83533	0.561000	0.74099	GGG		0.632	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		6	106	6	106	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594583	36594583	+	Missense_Mutation	SNP	C	C	A	rs397704725		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:36594583C>A	ENST00000270301.7	+	30	3838	c.3838C>A	c.(3838-3840)Ctg>Atg	p.L1280M	WDR62_ENST00000401500.2_Missense_Mutation_p.L1285M			O43379	WDR62_HUMAN	WD repeat domain 62	1280					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAGCCTGCCCTGCGTTCCTG	0.662																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(3853-3855)Ctg>Atg		WD repeat domain 62							83.0	64.0	71.0					19																	36594583		2203	4300	6503	SO:0001583	missense	284403				cerebral cortex development	nucleus		g.chr19:36594583C>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.3838C>A	19.37:g.36594583C>A	ENSP00000270301:p.Leu1280Met		Somatic				WDR62_ENST00000270301.7_Missense_Mutation_p.L1280M	p.L1285M	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	WXS	Illumina GAIIx	Phase_I	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		30	3888	+	Esophageal squamous(110;0.162)		1280					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	ENST00000270301.7	37	c.3853C>A	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592804	0.46214	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.54479	0.66;0.57	4.88	1.59	0.23543	.	1.938780	0.02356	N	0.076364	T	0.57858	0.2082	L	0.32530	0.975	0.09310	N	1	D;D	0.65815	0.995;0.991	P;P	0.61800	0.894;0.786	T	0.37526	-0.9702	10	0.62326	D	0.03	-1.1745	3.557	0.07867	0.1725:0.569:0.1665:0.092	.	1285;1280	O43379-4;O43379	.;WDR62_HUMAN	M	1285;1280	ENSP00000384792:L1285M;ENSP00000270301:L1280M	ENSP00000270301:L1280M	L	+	1	2	WDR62	41286423	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	0.544000	0.23253	0.272000	0.22027	-1.108000	0.02087	CTG		0.662	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		6	100	6	100	---	---	---	---
ZNF585A	199704	broad.mit.edu	37	19	37646805	37646805	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37646805C>A	ENST00000356958.4	-	4	512	c.254G>T	c.(253-255)tGg>tTg	p.W85L	ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGCAGTGCCCATGGTTCCTT	0.512																																						ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(253-255)tGg>tTg		zinc finger protein 585A							171.0	136.0	148.0					19																	37646805		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37646805C>A	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.254G>T	19.37:g.37646805C>A	ENSP00000349440:p.Trp85Leu		Somatic				ZNF585A_ENST00000588723.1_5'UTR|ZNF585A_ENST00000392157.2_Missense_Mutation_p.W30L|ZNF585A_ENST00000292841.5_Missense_Mutation_p.W30L|ZNF585A_ENST00000355533.2_Missense_Mutation_p.W30L	p.W85L			WXS	Illumina GAIIx	Phase_I	Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	512	-			85			KRAB.		Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.254G>T		.	.	.	.	.	.	.	.	.	.	C	13.12	2.142579	0.37825	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.10573	2.88;2.86;2.86;3.0	3.52	2.47	0.30058	Krueppel-associated box (2);	1.426200	0.05005	U	0.469823	T	0.14013	0.0339	L	0.61218	1.895	0.25115	N	0.990688	B	0.25105	0.118	B	0.19391	0.025	T	0.31110	-0.9955	10	0.48119	T	0.1	.	6.5522	0.22440	0.0:0.8642:0.0:0.1358	.	85	Q6P3V2	Z585A_HUMAN	L	85;30;30;30	ENSP00000349440:W85L;ENSP00000292841:W30L;ENSP00000375998:W30L;ENSP00000347724:W30L	ENSP00000292841:W30L	W	-	2	0	ZNF585A	42338645	0.090000	0.21635	0.998000	0.56505	0.743000	0.42351	1.306000	0.33505	0.671000	0.31185	0.655000	0.94253	TGG		0.512	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		5	87	5	87	---	---	---	---
ZNF585B	92285	broad.mit.edu	37	19	37677025	37677025	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:37677025C>A	ENST00000532828.2	-	5	1665	c.1414G>T	c.(1414-1416)Ggg>Tgg	p.G472W	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATGCCTTCCCACATTTATTG	0.393																																					Melanoma(93;882 1454 18863 28917 48427)	ENST00000532828.2																			0				NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29						c.(1414-1416)Ggg>Tgg		zinc finger protein 585B							116.0	116.0	116.0					19																	37677025		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677025C>A	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1414G>T	19.37:g.37677025C>A	ENSP00000433773:p.Gly472Trp		Somatic				ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G60W|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G417W|CTC-454I21.3_ENST00000585860.2_Intron	p.G472W	NM_152279.3	NP_689492.3	WXS	Illumina GAIIx	Phase_I	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1665	-			472					Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1414G>T	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777042	0.31411	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.22336	1.96;3.16;3.16	2.31	2.31	0.28768	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001775	T	0.50086	0.1595	M	0.92026	3.265	0.40083	D	0.976152	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.60037	-0.7341	10	0.72032	D	0.01	.	9.8137	0.40840	0.0:1.0:0.0:0.0	.	417;472	E9PQH3;Q52M93	.;Z585B_HUMAN	W	417;472;60	ENSP00000436774:G417W;ENSP00000433773:G472W;ENSP00000442139:G60W	ENSP00000442139:G60W	G	-	1	0	ZNF585B	42368865	0.814000	0.29104	0.998000	0.56505	0.475000	0.33008	1.016000	0.29976	1.288000	0.44600	0.298000	0.19748	GGG		0.393	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		7	135	7	135	---	---	---	---
ZNF607	84775	broad.mit.edu	37	19	38190150	38190150	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:38190150G>T	ENST00000355202.4	-	5	1477	c.882C>A	c.(880-882)tcC>tcA	p.S294S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	294					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCACAAGGTGGGAAAACTGAC	0.428																																						ENST00000355202.4																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27						c.(880-882)tcC>tcA		zinc finger protein 607							70.0	71.0	71.0					19																	38190150		2203	4300	6503	SO:0001819	synonymous_variant	84775				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38190150G>T	AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.882C>A	19.37:g.38190150G>T			Somatic				CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.S293S	p.S294S	NM_032689.4	NP_116078.4	WXS	Illumina GAIIx	Phase_I	Q96SK3	ZN607_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)		5	1477	-			294					F5H141|Q6ZMN2|Q6ZMN4|Q96C40	Silent	SNP	ENST00000355202.4	37	c.882C>A	CCDS33006.1																																																																																				0.428	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459502.2	NM_032689		6	91	6	91	---	---	---	---
SNRPA	6626	broad.mit.edu	37	19	41257332	41257332	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:41257332C>A	ENST00000243563.3	+	1	569	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	SNRPA_ENST00000599570.1_3'UTR|C19orf54_ENST00000470681.1_5'Flank|C19orf54_ENST00000339153.3_5'Flank|C19orf54_ENST00000378313.2_5'Flank|C19orf54_ENST00000598729.1_5'Flank|C19orf54_ENST00000598485.2_5'Flank	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	7					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGAGACCCGCCCTAACCA	0.493																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(19-21)Cgc>Agc		small nuclear ribonucleoprotein polypeptide A							168.0	162.0	164.0					19																	41257332		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41257332C>A	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.19C>A	19.37:g.41257332C>A	ENSP00000243563:p.Arg7Ser		Somatic				SNRPA_ENST00000599570.1_3'UTR	p.R7S	NM_004596.4	NP_004587.1	WXS	Illumina GAIIx	Phase_I	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	569	+			7						Missense_Mutation	SNP	ENST00000243563.3	37	c.19C>A	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350836	0.61183	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.05925	3.37	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.09158	0.0226	L	0.47016	1.485	0.54753	D	0.999987	B	0.22146	0.065	B	0.29862	0.108	T	0.15407	-1.0438	10	0.34782	T	0.22	-20.5743	14.0852	0.64951	0.1507:0.8493:0.0:0.0	.	7	P09012	SNRPA_HUMAN	S	7	ENSP00000243563:R7S	ENSP00000243563:R7S	R	+	1	0	SNRPA	45949172	0.996000	0.38824	1.000000	0.80357	0.906000	0.53458	3.292000	0.51772	2.837000	0.97791	0.655000	0.94253	CGC		0.493	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		6	208	6	208	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42353218	42353218	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:42353218C>A	ENST00000269945.3	+	6	700	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	217	Pro-rich.				male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						TGGCACCTCCCTCCAGCTGCC	0.557																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(649-651)Ctc>Atc		DMRT-like family C2							127.0	132.0	130.0					19																	42353218		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42353218C>A	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.649C>A	19.37:g.42353218C>A	ENSP00000269945:p.Leu217Ile		Somatic				DMRTC2_ENST00000596827.1_Missense_Mutation_p.L217I	p.L217I	NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			6	700	+			217			Pro-rich.		Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.649C>A	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	C	7.996	0.754270	0.15778	.	.	ENSG00000142025	ENST00000269945	T	0.47528	0.84	5.1	2.78	0.32641	.	0.415201	0.18860	N	0.129143	T	0.28466	0.0704	N	0.14661	0.345	0.25607	N	0.986537	B;B	0.17038	0.02;0.013	B;B	0.16289	0.015;0.008	T	0.16158	-1.0412	10	0.34782	T	0.22	-13.1031	10.0398	0.42151	0.3665:0.6335:0.0:0.0	.	217;217	B4DX56;Q8IXT2	.;DMRTD_HUMAN	I	217	ENSP00000269945:L217I	ENSP00000269945:L217I	L	+	1	0	DMRTC2	47045058	0.910000	0.30920	0.991000	0.47740	0.386000	0.30323	0.690000	0.25451	1.277000	0.44412	0.462000	0.41574	CTC		0.557	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		7	163	7	163	---	---	---	---
PSG1	5669	broad.mit.edu	37	19	43382176	43382176	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:43382176G>T	ENST00000436291.2	-	2	435	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000244296.2_Missense_Mutation_p.L107M	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	107	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGATCAGCAGGGATGCATTG	0.448																																						ENST00000244296.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(319-321)Ctg>Atg		pregnancy specific beta-1-glycoprotein 1							321.0	299.0	307.0					19																	43382176		2202	4296	6498	SO:0001583	missense	5669							g.chr19:43382176G>T		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.319C>A	19.37:g.43382176G>T	ENSP00000413041:p.Leu107Met		Somatic				PSG1_ENST00000436291.2_Missense_Mutation_p.L107M|PSG1_ENST00000595124.1_Missense_Mutation_p.L107M|PSG1_ENST00000403380.3_Missense_Mutation_p.L107M|PSG1_ENST00000312439.6_Missense_Mutation_p.L107M|PSG1_ENST00000595356.1_Missense_Mutation_p.L107M|PSG1_ENST00000601073.1_5'UTR	p.L107M	NM_006905.2	NP_008836.2	WXS	Illumina GAIIx	Phase_I					2	456	-		Prostate(69;0.00682)						O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.319C>A	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	11.30	1.599173	0.28534	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	1.64	-2.6	0.06190	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30572	0.0769	M	0.94101	3.495	0.09310	N	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.991;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.997;0.999;1.0;1.0	T	0.06499	-1.0823	9	0.87932	D	0	.	5.225	0.15389	0.5067:0.0:0.4933:0.0	.	107;107;107;107;107;107;107;107;107	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	M	107	ENSP00000413041:L107M;ENSP00000385386:L107M;ENSP00000308970:L107M;ENSP00000244296:L107M	ENSP00000244296:L107M	L	-	1	2	PSG1	48074016	0.956000	0.32656	0.069000	0.20011	0.103000	0.19146	0.553000	0.23391	-0.518000	0.06452	0.184000	0.17185	CTG		0.448	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			10	478	10	478	---	---	---	---
XRCC1	7515	broad.mit.edu	37	19	44050812	44050812	+	Missense_Mutation	SNP	G	G	T	rs561549900		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:44050812G>T	ENST00000262887.5	-	12	1908	c.1361C>A	c.(1360-1362)cCt>cAt	p.P454H	XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	454					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GGTCTCTTCAGGGGTTGGGGG	0.612								Other BER factors																														ENST00000262887.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1360-1362)cCt>cAt	Other BER factors	X-ray repair complementing defective repair in Chinese hamster cells 1							119.0	130.0	126.0					19																	44050812		2203	4300	6503	SO:0001583	missense	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44050812G>T	M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.1361C>A	19.37:g.44050812G>T	ENSP00000262887:p.Pro454His		Somatic				XRCC1_ENST00000543982.1_Missense_Mutation_p.P423H	p.P454H			WXS	Illumina GAIIx	Phase_I	P18887	XRCC1_HUMAN			12	1908	-		Prostate(69;0.0153)	454					Q6IBS4|Q9HCB1	Missense_Mutation	SNP	ENST00000262887.5	37	c.1361C>A	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.030619	0.35797	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	T;T	0.03004	4.09;4.08	4.87	4.87	0.63330	.	0.532611	0.20625	N	0.088681	T	0.15219	0.0367	M	0.65975	2.015	0.38903	D	0.95737	D;D	0.89917	1.0;0.994	D;P	0.73380	0.98;0.783	T	0.00463	-1.1724	10	0.42905	T	0.14	-14.3796	14.2381	0.65941	0.0:0.0:1.0:0.0	.	423;454	F5H8D7;P18887	.;XRCC1_HUMAN	H	468;454;423	ENSP00000262887:P454H;ENSP00000443671:P423H	ENSP00000262887:P454H	P	-	2	0	XRCC1	48742652	0.977000	0.34250	0.296000	0.24974	0.010000	0.07245	2.735000	0.47377	2.615000	0.88500	0.655000	0.94253	CCT		0.612	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	NM_006297		7	199	7	199	---	---	---	---
CEACAM20	125931	broad.mit.edu	37	19	45029262	45029262	+	RNA	SNP	A	A	G			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGGACTCCATACGGTACAAAG	0.587																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							100.0	106.0	104.0					19																	45029262		2097	4215	6312			125931					integral to membrane		g.chr19:45029262A>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45029262A>G			Somatic								WXS	Illumina GAIIx	Phase_I	Q6UY09	CEA20_HUMAN			0	346	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.587	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		35	85	35	85	---	---	---	---
BCL3	602	broad.mit.edu	37	19	45262794	45262794	+	Silent	SNP	C	C	A	rs200468364		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45262794C>A	ENST00000164227.5	+	9	1531	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	429	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.P421P(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CATCTCCACCCGCCTTCCTGC	0.682			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		2	Substitution - coding silent(2)	p.P421P(2)	large_intestine(1)|prostate(1)	kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1285-1287)ccC>ccA		B-cell CLL/lymphoma 3							97.0	108.0	104.0					19																	45262794		2203	4300	6503	SO:0001819	synonymous_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262794C>A	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1287C>A	19.37:g.45262794C>A			Somatic					p.P429P	NM_005178.4	NP_005169.2	WXS	Illumina GAIIx	Phase_I	P20749	BCL3_HUMAN			9	1531	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	429			Pro/Ser-rich.			Silent	SNP	ENST00000164227.5	37	c.1287C>A	CCDS12642.2																																																																																				0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		5	192	5	192	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45389443	45389443	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45389443C>A	ENST00000252483.5	+	8	1314	c.1314C>A	c.(1312-1314)ccC>ccA	p.P438P	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	438					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCAAGACCCCCTACTTTGATG	0.647																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)ccC>ccA		poliovirus receptor-related 2 (herpesvirus entry mediator B)							43.0	44.0	43.0					19																	45389443		1874	4104	5978	SO:0001819	synonymous_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45389443C>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1314C>A	19.37:g.45389443C>A			Somatic				CTB-129P6.4_ENST00000585408.1_RNA	p.P438P	NM_001042724.1	NP_001036189.1	WXS	Illumina GAIIx	Phase_I	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	8	1314	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	438					A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	c.1314C>A	CCDS42576.1																																																																																				0.647	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		5	68	5	68	---	---	---	---
HSD17B14	51171	broad.mit.edu	37	19	49339660	49339660	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:49339660C>A	ENST00000263278.4	-	1	275	c.9G>T	c.(7-9)acG>acT	p.T3T	HSD17B14_ENST00000599157.1_Silent_p.T3T	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	3					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGCGCGTTCCCGTAGCCATCC	0.647											OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263278.4																			0				large_intestine(3)|lung(1)|skin(1)	5						c.(7-9)acG>acT		hydroxysteroid (17-beta) dehydrogenase 14							67.0	55.0	59.0					19																	49339660		2203	4300	6503	SO:0001819	synonymous_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49339660C>A	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.9G>T	19.37:g.49339660C>A			Somatic	OREG0025610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	961	HSD17B14_ENST00000599157.1_Silent_p.T3T	p.T3T	NM_016246.2	NP_057330.2	WXS	Illumina GAIIx	Phase_I	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	1	275	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	3					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.9G>T	CCDS12736.1																																																																																				0.647	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1	NM_016246		4	68	4	68	---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50549573	50549573	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:50549573G>T	ENST00000595661.1	+	6	2368	c.1873G>T	c.(1873-1875)Ggg>Tgg	p.G625W	ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	625					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGGTGAGCAAGGGAAAGCCAT	0.478																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1873-1875)Ggg>Tgg		zinc finger protein 473							86.0	79.0	82.0					19																	50549573		2203	4300	6503	SO:0001583	missense	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50549573G>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1873G>T	19.37:g.50549573G>T	ENSP00000472808:p.Gly625Trp		Somatic				CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.G613W|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.G625W|ZNF473_ENST00000270617.3_Missense_Mutation_p.G625W	p.G625W			WXS	Illumina GAIIx	Phase_I	Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	2368	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	625					A8K8T7|Q9ULS9|Q9Y4Q7	Missense_Mutation	SNP	ENST00000595661.1	37	c.1873G>T	CCDS33077.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416658	0.25552	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.09255	3.0;3.0;3.01	4.24	2.04	0.26737	.	0.325448	0.22461	N	0.059745	T	0.33847	0.0877	M	0.90650	3.135	0.09310	N	1	D	0.76494	0.999	D	0.74674	0.984	T	0.07424	-1.0773	10	0.87932	D	0	-3.1035	7.6158	0.28156	0.0953:0.1676:0.737:0.0	.	625	Q8WTR7	ZN473_HUMAN	W	625;625;613	ENSP00000270617:G625W;ENSP00000375697:G625W;ENSP00000388961:G613W	ENSP00000270617:G625W	G	+	1	0	ZNF473	55241385	0.047000	0.20315	0.003000	0.11579	0.090000	0.18270	1.568000	0.36418	0.700000	0.31782	0.609000	0.83330	GGG		0.478	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		5	69	5	69	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53008033	53008033	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53008033G>T	ENST00000421239.2	+	5	433	c.189G>T	c.(187-189)gtG>gtT	p.V63V		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGAGGCTGTGGGTGAGGAAA	0.483																																						ENST00000421239.2																			0											c.(187-189)gtG>gtT		zinc finger protein 578							79.0	87.0	85.0					19																	53008033		2203	4298	6501	SO:0001630	splice_region_variant	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53008033G>T	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.190+1G>T	19.37:g.53008033G>T			Somatic					p.V63V	NM_001099694.1	NP_001093164.1	WXS	Illumina GAIIx	Phase_I	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	433	+			0					B4DR51|I3L1Y6	Splice_Site	SNP	ENST00000421239.2	37	c.189G>T	CCDS54310.1																																																																																				0.483	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	Silent	7	185	7	185	---	---	---	---
ZNF468	90333	broad.mit.edu	37	19	53345186	53345186	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:53345186C>A	ENST00000595646.1	-	4	481	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTGTACTACCAGCCAACTCT	0.428																																						ENST00000595646.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23						c.(361-363)Ggt>Tgt		zinc finger protein 468							216.0	196.0	203.0					19																	53345186		2203	4300	6503	SO:0001583	missense	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53345186C>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.361G>T	19.37:g.53345186C>A	ENSP00000470381:p.Gly121Cys		Somatic				ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.G68C|ZNF468_ENST00000396409.4_Missense_Mutation_p.G68C|ZNF468_ENST00000243639.4_3'UTR	p.G121C			WXS	Illumina GAIIx	Phase_I	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	4	481	-			121					A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	c.361G>T	CCDS33094.1	.	.	.	.	.	.	.	.	.	.	c	9.338	1.062314	0.19987	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.07327	3.2;3.2	1.2	-1.32	0.09201	.	.	.	.	.	T	0.14830	0.0358	L	0.52905	1.665	0.09310	N	1	D	0.71674	0.998	D	0.64042	0.921	T	0.14839	-1.0458	9	0.48119	T	0.1	.	1.9701	0.03404	0.261:0.3375:0.0:0.4015	.	121	Q5VIY5	ZN468_HUMAN	C	121;68;68	ENSP00000379690:G68C;ENSP00000445669:G68C	ENSP00000243639:G121C	G	-	1	0	ZNF468	58036998	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-2.167000	0.01271	-0.355000	0.08199	0.174000	0.16983	GGT		0.428	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801		6	225	6	225	---	---	---	---
LILRA6	79168	broad.mit.edu	37	19	54744952	54744952	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:54744952G>T	ENST00000396365.2	-	5	749	c.710C>A	c.(709-711)cCt>cAt	p.P237H	LILRA6_ENST00000440558.2_Missense_Mutation_p.P237H|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	237	Ig-like C2-type 1.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTCTGCCCAGGGGCCAGGAC	0.637																																						ENST00000440558.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(709-711)cCt>cAt		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							40.0	49.0	46.0					19																	54744952		2203	4297	6500	SO:0001583	missense	79168							g.chr19:54744952G>T	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.710C>A	19.37:g.54744952G>T	ENSP00000379651:p.Pro237His		Somatic				LILRA6_ENST00000396365.2_Missense_Mutation_p.P237H|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.P237H|LILRA6_ENST00000245621.5_Missense_Mutation_p.P237H	p.P237H			WXS	Illumina GAIIx	Phase_I				GBM - Glioblastoma multiforme(193;0.105)	5	758	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.710C>A	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	8.709	0.911575	0.17833	.	.	ENSG00000244482	ENST00000440558;ENST00000419410;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T	0.12569	2.67;2.67;2.67;2.67	2.39	2.39	0.29439	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.319940	0.05560	N	0.568995	T	0.29524	0.0736	M	0.82823	2.61	0.22968	N	0.998497	B;P;P;P	0.36438	0.115;0.536;0.553;0.473	B;P;B;B	0.44897	0.304;0.463;0.362;0.4	T	0.33189	-0.9878	10	0.66056	D	0.02	.	8.4083	0.32627	0.0:0.0:1.0:0.0	.	237;237;237;237	C9JFH3;Q6PI73;F8WCY4;D3YTC4	.;LIRA6_HUMAN;.;.	H	237	ENSP00000390120:P237H;ENSP00000411227:P237H;ENSP00000379651:P237H;ENSP00000245621:P237H	ENSP00000245621:P237H	P	-	2	0	LILRA6	59436764	0.215000	0.23574	0.045000	0.18777	0.007000	0.05969	1.478000	0.35442	1.665000	0.50811	0.184000	0.17185	CCT		0.637	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		6	79	6	79	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55677910	55677910	+	5'UTR	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:55677910C>A	ENST00000524407.2	-	0	10				snoU13_ENST00000459370.1_RNA|DNAAF3_ENST00000455045.1_5'Flank|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000527223.2_Missense_Mutation_p.R36L|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3						axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)											CCAAATATCCCGGGACGCCCC	0.622											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000527223.2																			0											c.(106-108)cGg>cTg		dynein, axonemal, assembly factor 3							138.0	150.0	146.0					19																	55677910		1938	4129	6067	SO:0001623	5_prime_UTR_variant	352909							g.chr19:55677910C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.-24G>T	19.37:g.55677910C>A			Somatic	OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1009	CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Missense_Mutation_p.R36L|DNAAF3_ENST00000524407.2_5'UTR	p.R36L	NM_001256714.1	NP_001243643	WXS	Illumina GAIIx	Phase_I	Q8N9W5	CS051_HUMAN			1	108	-			0					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.107G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015602	0.19355	.	.	ENSG00000167646	ENST00000301249;ENST00000391720;ENST00000528476	T	0.20200	2.09	3.82	-2.68	0.06041	.	3.171830	0.01484	N	0.016813	T	0.11024	0.0269	N	0.08118	0	0.09310	N	0.999993	B	0.25850	0.136	B	0.23852	0.049	T	0.25117	-1.0141	10	0.44086	T	0.13	0.0343	5.9785	0.19393	0.0:0.3332:0.4663:0.2006	.	36	E9PAX5	.	L	36	ENSP00000375600:R36L	ENSP00000301249:R36L	R	-	2	0	C19orf51	60369722	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-0.362000	0.07602	-0.324000	0.08589	-0.889000	0.02933	CGG		0.622	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		8	201	8	201	---	---	---	---
ZNF132	7691	broad.mit.edu	37	19	58948496	58948496	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:58948496C>A	ENST00000254166.3	-	2	550	c.150G>T	c.(148-150)gaG>gaT	p.E50D		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	50	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTCCCACTCCTCTTGGGAGA	0.512																																						ENST00000254166.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(148-150)gaG>gaT		zinc finger protein 132							118.0	91.0	100.0					19																	58948496		2203	4300	6503	SO:0001583	missense	7691					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58948496C>A	U09411	CCDS12980.1	19q13.4	2013-01-08	2006-06-13			ENSG00000131849		"""Zinc fingers, C2H2-type"", ""-"""	12916	protein-coding gene	gene with protein product		604074	"""zinc finger protein 132 (clone pHZ-12)"""			7557990	Standard	NM_003433		Approved	pHZ-12	uc002qst.4	P52740		ENST00000254166.3:c.150G>T	19.37:g.58948496C>A	ENSP00000254166:p.Glu50Asp		Somatic					p.E50D	NM_003433.3	NP_003424.3	WXS	Illumina GAIIx	Phase_I	P52740	ZN132_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)	2	550	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	50			KRAB.		Q32MI9	Missense_Mutation	SNP	ENST00000254166.3	37	c.150G>T	CCDS12980.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005413	0.54254	.	.	ENSG00000131849	ENST00000254166;ENST00000391695	T	0.03413	3.94	3.41	-0.224	0.13115	Krueppel-associated box (4);	.	.	.	.	T	0.05686	0.0149	M	0.77103	2.36	0.24575	N	0.993904	B	0.14438	0.01	B	0.18263	0.021	T	0.35549	-0.9784	9	0.59425	D	0.04	.	3.3007	0.06982	0.194:0.4802:0.0:0.3257	.	50	P52740	ZN132_HUMAN	D	50;19	ENSP00000254166:E50D	ENSP00000254166:E50D	E	-	3	2	ZNF132	63640308	0.884000	0.30299	0.852000	0.33557	0.869000	0.49853	0.387000	0.20718	0.092000	0.17331	-0.309000	0.09137	GAG		0.512	ZNF132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467035.1	NM_003433		5	54	5	54	---	---	---	---
CSNK2A1	1457	broad.mit.edu	37	20	476423	476423	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:476423C>A	ENST00000217244.3	-	8	825	c.450G>T	c.(448-450)atG>atT	p.M150I	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	150	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)	p.M150I(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GCATAATTCCCATGCTGTGAC	0.408																																						ENST00000217244.3																			1	Substitution - Missense(1)	p.M150I(1)	lung(1)	autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17						c.(448-450)atG>atT		casein kinase 2, alpha 1 polypeptide							143.0	121.0	129.0					20																	476423		2203	4300	6503	SO:0001583	missense	1457				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity	g.chr20:476423C>A	M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.450G>T	20.37:g.476423C>A	ENSP00000217244:p.Met150Ile		Somatic				CSNK2A1_ENST00000400227.3_Missense_Mutation_p.M150I|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.M150I|CSNK2A1_ENST00000400217.2_Missense_Mutation_p.M14I	p.M150I	NM_177559.2	NP_808227.1	WXS	Illumina GAIIx	Phase_I	P68400	CSK21_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.0969)		8	825	-		Breast(17;0.231)	150			Protein kinase.		B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	ENST00000217244.3	37	c.450G>T	CCDS13003.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991643	0.93106	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973;ENST00000400217	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.12	5.12	0.69794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.54498	0.1862	N	0.13299	0.325	0.80722	D	1	P	0.47253	0.892	P	0.47299	0.543	T	0.61486	-0.7053	10	0.59425	D	0.04	-15.1743	17.7401	0.88404	0.0:1.0:0.0:0.0	.	150	P68400	CSK21_HUMAN	I	150;150;150;150;14	ENSP00000383086:M150I;ENSP00000339247:M150I;ENSP00000217244:M150I;ENSP00000383076:M14I	ENSP00000217244:M150I	M	-	3	0	CSNK2A1	424423	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.668000	0.90789	0.591000	0.81541	ATG		0.408	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077466.1	NM_001895		7	87	7	87	---	---	---	---
ATRN	8455	broad.mit.edu	37	20	3564686	3564686	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:3564686C>A	ENST00000262919.5	+	17	2974	c.2906C>A	c.(2905-2907)cCt>cAt	p.P969H	ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	969	PSI 3.				cerebellum development (GO:0021549)|inflammatory response (GO:0006954)|myelination (GO:0042552)|pigmentation (GO:0043473)|regulation of multicellular organism growth (GO:0040014)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCTCCTTCCCTTTTGGCCAG	0.537																																						ENST00000262919.5																			0				breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(2905-2907)cCt>cAt		attractin							359.0	292.0	315.0					20																	3564686		2203	4300	6503	SO:0001583	missense	8455				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr20:3564686C>A	AF034957	CCDS13053.1, CCDS13054.1	20p13	2008-07-02			ENSG00000088812	ENSG00000088812			885	protein-coding gene	gene with protein product	"""mahogany protein"""	603130				9736737, 8596018	Standard	NM_139321		Approved	DPPT-L, MGCA	uc002wim.2	O75882	OTTHUMG00000031746	ENST00000262919.5:c.2906C>A	20.37:g.3564686C>A	ENSP00000262919:p.Pro969His		Somatic				ATRN_ENST00000446916.2_Missense_Mutation_p.P969H	p.P969H	NM_139321.2	NP_647537.1	WXS	Illumina GAIIx	Phase_I	O75882	ATRN_HUMAN			17	2974	+			969			PSI 3.		A8KAE5|O60295|O95414|Q3MIT3|Q5TDA2|Q5TDA4|Q5VYW3|Q9NTQ3|Q9NTQ4|Q9NU01|Q9NZ57|Q9NZ58|Q9UC75|Q9UDF5	Missense_Mutation	SNP	ENST00000262919.5	37	c.2906C>A	CCDS13053.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.691834	0.88735	.	.	ENSG00000088812	ENST00000262919;ENST00000446916;ENST00000340500	T;T	0.07021	3.23;3.3	5.64	5.64	0.86602	.	0.108901	0.64402	D	0.000005	T	0.35098	0.0920	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.09015	-1.0694	10	0.72032	D	0.01	-11.9296	19.2939	0.94114	0.0:1.0:0.0:0.0	.	969;969	O75882;O75882-2	ATRN_HUMAN;.	H	969;969;895	ENSP00000262919:P969H;ENSP00000416587:P969H	ENSP00000262919:P969H	P	+	2	0	ATRN	3512686	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.787000	0.85759	2.645000	0.89757	0.585000	0.79938	CCT		0.537	ATRN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077740.2	NM_139321		8	316	8	316	---	---	---	---
FLRT3	23767	broad.mit.edu	37	20	14306228	14306228	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:14306228G>T	ENST00000378053.3	-	2	2181	c.1925C>A	c.(1924-1926)cCa>cAa	p.P642Q	MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	642					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATCTGAGTCTGGAATACCACT	0.413																																						ENST00000378053.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1924-1926)cCa>cAa		fibronectin leucine rich transmembrane protein 3							307.0	262.0	277.0					20																	14306228		2203	4300	6503	SO:0001583	missense	23767				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr20:14306228G>T	AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.1925C>A	20.37:g.14306228G>T	ENSP00000367292:p.Pro642Gln		Somatic				MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P642Q	p.P642Q	NM_013281.3	NP_037413.1	WXS	Illumina GAIIx	Phase_I	Q9NZU0	FLRT3_HUMAN	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)	2	2181	-		Colorectal(1;0.0464)	642					D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Missense_Mutation	SNP	ENST00000378053.3	37	c.1925C>A	CCDS13121.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916021	0.52546	.	.	ENSG00000125848	ENST00000378053;ENST00000341420	T;T	0.68765	-0.35;-0.35	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81226	-0.1029	10	0.87932	D	0	-11.4739	20.8598	0.99761	0.0:0.0:1.0:0.0	.	642	Q9NZU0	FLRT3_HUMAN	Q	642	ENSP00000367292:P642Q;ENSP00000339912:P642Q	ENSP00000339912:P642Q	P	-	2	0	FLRT3	14254228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.937000	0.99478	0.650000	0.86243	CCA		0.413	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1	NM_013281		6	155	6	155	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	24993555	24993555	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:24993555C>A	ENST00000323482.4	-	11	1679	c.1600G>T	c.(1600-1602)Ggg>Tgg	p.G534W	ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.G451W|ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	534					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CGGTAAGCCCCGTCTCCAGTG	0.567																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1351-1353)Ggg>Tgg		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						152.0	135.0	141.0					20																	24993555		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993555C>A		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1600G>T	20.37:g.24993555C>A	ENSP00000316924:p.Gly534Trp		Somatic				ACSS1_ENST00000542618.1_Missense_Mutation_p.G413W|ACSS1_ENST00000432802.2_Missense_Mutation_p.G534W|ACSS1_ENST00000323482.4_Missense_Mutation_p.G534W	p.G451W			WXS	Illumina GAIIx	Phase_I	Q9NUB1	ACS2L_HUMAN			9	2882	-			534					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1351G>T	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413109	0.62511	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.38	4.38	0.52667	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64103	0.2568	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.69235	-0.5198	10	0.87932	D	0	-21.9067	16.4041	0.83652	0.0:1.0:0.0:0.0	.	329;532;534;451	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	W	534;329;451;534;413	ENSP00000316924:G534W;ENSP00000439304:G451W;ENSP00000388793:G534W;ENSP00000437657:G413W	ENSP00000316924:G534W	G	-	1	0	ACSS1	24941555	1.000000	0.71417	0.978000	0.43139	0.413000	0.31143	5.568000	0.67385	2.357000	0.79964	0.655000	0.94253	GGG		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		5	95	5	95	---	---	---	---
FOXS1	2307	broad.mit.edu	37	20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687																																						ENST00000375978.3																			0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(874-876)Cca>Tca		forkhead box S1							26.0	28.0	27.0					20																	30432472		2203	4299	6502	SO:0001583	missense	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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.chr20:30432472G>A	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.874C>T	20.37:g.30432472G>A	ENSP00000365145:p.Pro292Ser		Somatic					p.P292S	NM_004118.3	NP_004109.1	WXS	Illumina GAIIx	Phase_I	O43638	FOXS1_HUMAN			1	948	-			292		P -> A (in dbSNP:rs2296917).			Q96D28	Missense_Mutation	SNP	ENST00000375978.3	37	c.874C>T	CCDS13192.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877852	0.33162	.	.	ENSG00000179772	ENST00000375978	D	0.92199	-2.99	4.52	4.52	0.55395	.	0.196433	0.25500	N	0.030256	D	0.82967	0.5152	L	0.27053	0.805	0.31334	N	0.684426	P	0.39480	0.675	B	0.33960	0.173	T	0.82849	-0.0254	10	0.44086	T	0.13	.	6.3456	0.21347	0.0985:0.1879:0.7136:0.0	.	292	O43638	FOXS1_HUMAN	S	292	ENSP00000365145:P292S	ENSP00000365145:P292S	P	-	1	0	FOXS1	29896133	0.994000	0.37717	1.000000	0.80357	0.869000	0.49853	0.952000	0.29149	2.341000	0.79615	0.448000	0.29417	CCA		0.687	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	NM_004118		5	40	5	40	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31571702	31571702	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:31571702C>A	ENST00000356173.3	-	13	1130	c.1038G>T	c.(1036-1038)tgG>tgT	p.W346C	SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	346	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTGGGTTCCCCCAGTTGCTTG	0.597																																						ENST00000356173.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						c.(1036-1038)tgG>tgT		Sad1 and UNC84 domain containing 5							90.0	95.0	93.0					20																	31571702		2203	4300	6503	SO:0001583	missense	140732				spermatogenesis			g.chr20:31571702C>A	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1038G>T	20.37:g.31571702C>A	ENSP00000348496:p.Trp346Cys		Somatic				SUN5_ENST00000375523.3_Missense_Mutation_p.W321C	p.W346C	NM_080675.3	NP_542406.2	WXS	Illumina GAIIx	Phase_I	Q8TC36	SUN5_HUMAN			13	1130	-			346			SUN.		A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.1038G>T	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887108	0.72410	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.48836	0.8;0.8	4.73	4.73	0.59995	Sad1/UNC-like, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78102	-0.2335	10	0.72032	D	0.01	-14.8735	13.5801	0.61898	0.0:1.0:0.0:0.0	.	346	Q8TC36	SUN5_HUMAN	C	346;321	ENSP00000348496:W346C;ENSP00000364673:W321C	ENSP00000348496:W346C	W	-	3	0	SUN5	31035363	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.510000	0.67018	2.338000	0.79540	0.563000	0.77884	TGG		0.597	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675		6	119	6	119	---	---	---	---
RBM39	9584	broad.mit.edu	37	20	34312596	34312596	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:34312596C>A	ENST00000253363.6	-	8	606	c.583G>T	c.(583-585)Gga>Tga	p.G195*	RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000361162.6_Nonsense_Mutation_p.G195*			Q14498	RBM39_HUMAN	RNA binding motif protein 39	195	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TAAGCAATTCCTTTGGAACGT	0.418																																						ENST00000361162.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(583-585)Gga>Tga		RNA binding motif protein 39							139.0	126.0	130.0					20																	34312596		2203	4300	6503	SO:0001587	stop_gained	9584				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	g.chr20:34312596C>A	L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.583G>T	20.37:g.34312596C>A	ENSP00000253363:p.Gly195*		Somatic				RBM39_ENST00000407261.4_Nonsense_Mutation_p.G38*|RBM39_ENST00000528062.3_Nonsense_Mutation_p.G173*|RBM39_ENST00000253363.6_Nonsense_Mutation_p.G195*	p.G195*	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	WXS	Illumina GAIIx	Phase_I	Q14498	RBM39_HUMAN			8	967	-	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)		195			RRM 1.		A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Nonsense_Mutation	SNP	ENST00000253363.6	37	c.583G>T	CCDS13266.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.699361|5.699361	0.96802|0.96802	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261;ENST00000374038;ENST00000427743|ENST00000448303	.|.	.|.	.|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76485	.|0.3994	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74942	.|-0.3492	.|3	0.87932|.	D|.	0|.	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|M	195;195;173;38;194;173|67	.|.	ENSP00000253363:G195X|.	G|R	-|-	1|2	0|0	RBM39|RBM39	33776010|33776010	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.743000|7.743000	0.85020|0.85020	2.672000|2.672000	0.90937|0.90937	0.558000|0.558000	0.71614|0.71614	GGA|AGG		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237		7	85	7	85	---	---	---	---
TTI1	9675	broad.mit.edu	37	20	36640476	36640476	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:36640476C>A	ENST00000373448.2	-	3	1981	c.1743G>T	c.(1741-1743)atG>atT	p.M581I	TTI1_ENST00000373447.3_Missense_Mutation_p.M581I|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	581					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GCTCCTCTCCCATTTCCTCAG	0.448																																						ENST00000373448.2																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						c.(1741-1743)atG>atT		TELO2 interacting protein 1							139.0	145.0	143.0					20																	36640476		2203	4300	6503	SO:0001583	missense	9675						binding	g.chr20:36640476C>A	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1743G>T	20.37:g.36640476C>A	ENSP00000362547:p.Met581Ile		Somatic				TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000449821.1_Missense_Mutation_p.M581I|TTI1_ENST00000373447.3_Missense_Mutation_p.M581I	p.M581I	NM_014657.1	NP_055472.1	WXS	Illumina GAIIx	Phase_I	O43156	TTI1_HUMAN			3	1981	-			581					D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Missense_Mutation	SNP	ENST00000373448.2	37	c.1743G>T	CCDS13300.1	.	.	.	.	.	.	.	.	.	.	C	1.240	-0.621486	0.03636	.	.	ENSG00000101407	ENST00000373448;ENST00000373447;ENST00000449821	T;T;T	0.13089	2.62;2.62;2.62	3.78	2.74	0.32292	Armadillo-type fold (1);	0.576194	0.19372	N	0.115898	T	0.05273	0.0140	N	0.04508	-0.205	0.23454	N	0.997645	B	0.02656	0.0	B	0.04013	0.001	T	0.31724	-0.9933	10	0.30078	T	0.28	.	5.6656	0.17693	0.0:0.5918:0.2909:0.1173	.	581	O43156	TTI1_HUMAN	I	581	ENSP00000362547:M581I;ENSP00000362546:M581I;ENSP00000407270:M581I	ENSP00000362546:M581I	M	-	3	0	TTI1	36073890	0.000000	0.05858	0.980000	0.43619	0.509000	0.34042	0.058000	0.14301	2.124000	0.65301	0.655000	0.94253	ATG		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2	NM_014657		7	223	7	223	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37194025	37194025	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:37194025G>T	ENST00000262879.6	+	25	4005	c.3721G>T	c.(3721-3723)Gga>Tga	p.G1241*	RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1241	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TGAAGATATTGGAGCTAGCAT	0.383																																						ENST00000262879.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(3721-3723)Gga>Tga		Ral GTPase activating protein, beta subunit (non-catalytic)							208.0	204.0	206.0					20																	37194025		2203	4300	6503	SO:0001587	stop_gained	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37194025G>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.3721G>T	20.37:g.37194025G>T	ENSP00000262879:p.Gly1241*		Somatic				RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.G1020*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.G1238*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.G1241*	p.G1241*			WXS	Illumina GAIIx	Phase_I	Q86X10	RLGPB_HUMAN			25	4005	+			1241			Rap-GAP.		A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Nonsense_Mutation	SNP	ENST00000262879.6	37	c.3721G>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	48	14.474380	0.99797	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	19.3325	0.94297	0.0:0.0:1.0:0.0	.	.	.	.	X	1241;1238;1020;1241;1070	.	ENSP00000262879:G1241X	G	+	1	0	RALGAPB	36627439	1.000000	0.71417	0.974000	0.42286	0.734000	0.41952	9.415000	0.97375	2.558000	0.86282	0.467000	0.42956	GGA		0.383	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		6	174	6	174	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40052148	40052148	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:40052148G>T	ENST00000373233.3	-	30	4716	c.4539C>A	c.(4537-4539)ccC>ccA	p.P1513P		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1513					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTTTCCATGTGGGTAGACGAC	0.408																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(4537-4539)ccC>ccA		chromodomain helicase DNA binding protein 6							254.0	281.0	272.0					20																	40052148		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40052148G>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.4539C>A	20.37:g.40052148G>T			Somatic					p.P1513P	NM_032221.3	NP_115597.3	WXS	Illumina GAIIx	Phase_I	Q8TD26	CHD6_HUMAN			30	4716	-		Myeloproliferative disorder(115;0.00425)	1513					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.4539C>A	CCDS13317.1																																																																																				0.408	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			10	513	10	513	---	---	---	---
PIGT	51604	broad.mit.edu	37	20	44054219	44054219	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:44054219C>A	ENST00000279036.6	+	12	1570	c.1490C>A	c.(1489-1491)cCa>cAa	p.P497Q	PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	497					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|post-translational protein modification (GO:0043687)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				CCCAGGTTCCCAGTCTCTGAT	0.587																																						ENST00000279036.6																			0				breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22						c.(1489-1491)cCa>cAa		phosphatidylinositol glycan anchor biosynthesis, class T							64.0	59.0	60.0					20																	44054219		2203	4300	6503	SO:0001583	missense	51604				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr20:44054219C>A		CCDS13353.1, CCDS54464.1, CCDS54465.1, CCDS54466.1	20q12-q13.12	2013-02-26	2006-06-28		ENSG00000124155	ENSG00000124155		"""Phosphatidylinositol glycan anchor biosynthesis"""	14938	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610272	"""phosphatidylinositol glycan, class T"""			15713669	Standard	NM_015937		Approved		uc002xoh.3	Q969N2	OTTHUMG00000032574	ENST00000279036.6:c.1490C>A	20.37:g.44054219C>A	ENSP00000279036:p.Pro497Gln		Somatic				PIGT_ENST00000372689.5_Missense_Mutation_p.P430Q|PIGT_ENST00000543458.2_Missense_Mutation_p.P441Q|PIGT_ENST00000535404.1_Missense_Mutation_p.P342Q|PIGT_ENST00000341555.5_Missense_Mutation_p.P303Q|PIGT_ENST00000545755.1_Missense_Mutation_p.P235Q|PIGT_ENST00000279035.9_Missense_Mutation_p.P395Q	p.P497Q	NM_015937.5	NP_057021.2	WXS	Illumina GAIIx	Phase_I	Q969N2	PIGT_HUMAN			12	1570	+		Myeloproliferative disorder(115;0.0122)	497					B2RND5|B7Z3N1|B7Z7I8|E1P622|G8JLF5|Q2NL69|Q7Z3N7|Q9BQY7|Q9BQY8|Q9UJG6|Q9Y2Z5	Missense_Mutation	SNP	ENST00000279036.6	37	c.1490C>A	CCDS13353.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775670	0.90195	.	.	ENSG00000124155	ENST00000543458;ENST00000372689;ENST00000279035;ENST00000279036;ENST00000545755;ENST00000341555;ENST00000535404	T;T;T;T;T;T;T	0.42900	0.99;0.98;0.99;0.99;0.98;0.97;0.96	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	L	0.43923	1.385	0.80722	D	1	D;P;D;D;D;D;P;D;D	0.89917	0.995;0.577;0.998;1.0;0.998;0.999;0.529;0.999;0.999	D;B;P;D;D;D;B;D;D	0.97110	0.944;0.139;0.899;1.0;0.939;0.961;0.376;0.991;0.985	T	0.37079	-0.9721	10	0.13853	T	0.58	-21.469	19.3546	0.94407	0.0:1.0:0.0:0.0	.	335;395;342;441;342;286;235;173;497	B7Z3L1;Q969N2-4;F5GWY0;B7Z3N1;B7Z1F1;Q969N2-3;B7Z1N3;B7Z4T7;Q969N2	.;.;.;.;.;.;.;.;PIGT_HUMAN	Q	441;430;395;497;235;303;342	ENSP00000441577:P441Q;ENSP00000361774:P430Q;ENSP00000279035:P395Q;ENSP00000279036:P497Q;ENSP00000443963:P235Q;ENSP00000343783:P303Q;ENSP00000440528:P342Q	ENSP00000279035:P395Q	P	+	2	0	PIGT	43487633	1.000000	0.71417	0.973000	0.42090	0.994000	0.84299	7.413000	0.80104	2.894000	0.99253	0.655000	0.94253	CCA		0.587	PIGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079434.2	NM_015937		4	34	4	34	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130191	45130191	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:45130191C>A	ENST00000347606.4	-	5	1969	c.1787G>T	c.(1786-1788)gGg>gTg	p.G596V	ZNF334_ENST00000457685.2_Missense_Mutation_p.G558V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGGTTTCTCCCCAGTGTGAGT	0.428																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1672-1674)gGg>gTg		zinc finger protein 334							124.0	118.0	120.0					20																	45130191		2203	4300	6503	SO:0001583	missense	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130191C>A	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1787G>T	20.37:g.45130191C>A	ENSP00000255129:p.Gly596Val		Somatic				ZNF334_ENST00000347606.4_Missense_Mutation_p.G596V|ZNF334_ENST00000593880.1_Missense_Mutation_p.G619V	p.G558V			WXS	Illumina GAIIx	Phase_I	Q9HCZ1	ZN334_HUMAN			6	2996	-		Myeloproliferative disorder(115;0.0122)	596					Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	c.1673G>T	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.260742	0.59431	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.01599	4.74;4.74	3.01	3.01	0.34805	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08846	0.0219	M	0.73598	2.24	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.02444	-1.1158	9	0.87932	D	0	.	11.8554	0.52435	0.0:1.0:0.0:0.0	.	558;596;619	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	V	558;596	ENSP00000402582:G558V;ENSP00000255129:G596V	ENSP00000255129:G596V	G	-	2	0	ZNF334	44563598	0.864000	0.29904	1.000000	0.80357	0.961000	0.63080	2.288000	0.43514	1.684000	0.51022	0.591000	0.81541	GGG		0.428	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			7	124	7	124	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47317359	47317359	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:47317359C>A	ENST00000371941.3	-	7	871	c.849G>T	c.(847-849)gcG>gcT	p.A283A	PREX1_ENST00000396220.1_Silent_p.A283A	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	283	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A283A(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATGTTGCCCGCAGAGATCT	0.547																																						ENST00000396220.1																			2	Substitution - coding silent(2)	p.A283A(2)	lung(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(847-849)gcG>gcT		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1							211.0	202.0	205.0					20																	47317359		2203	4300	6503	SO:0001819	synonymous_variant	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47317359C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.849G>T	20.37:g.47317359C>A			Somatic				PREX1_ENST00000371941.3_Silent_p.A283A	p.A283A			WXS	Illumina GAIIx	Phase_I	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		7	871	-			283			PH.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Silent	SNP	ENST00000371941.3	37	c.849G>T	CCDS13410.1																																																																																				0.547	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		6	230	6	230	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52644936	52644936	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:52644936C>A	ENST00000395961.3	-	4	884	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	240						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CTTACCTTCCCTGCAGGGACA	0.557																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(718-720)Ggg>Tgg		breast carcinoma amplified sequence 1							291.0	247.0	262.0					20																	52644936		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52644936C>A	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.718G>T	20.37:g.52644936C>A	ENSP00000379290:p.Gly240Trp		Somatic				BCAS1_ENST00000371440.3_Missense_Mutation_p.G240W|BCAS1_ENST00000371435.2_Missense_Mutation_p.G240W|BCAS1_ENST00000411563.1_Missense_Mutation_p.G143W	p.G240W	NM_003657.2	NP_003648.2	WXS	Illumina GAIIx	Phase_I	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		4	884	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		240					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.718G>T	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580460	0.28180	.	.	ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000411563	T;T;T;T;T	0.08102	3.13;3.13;3.13;3.13;3.13	5.11	2.02	0.26589	.	0.394050	0.28057	N	0.016779	T	0.08980	0.0222	N	0.19112	0.55	0.09310	N	1	P;P;P;D;P;P	0.61697	0.924;0.844;0.844;0.99;0.929;0.929	P;P;P;P;P;P	0.52758	0.518;0.518;0.518;0.708;0.599;0.599	T	0.14090	-1.0485	10	0.72032	D	0.01	-5.2465	8.1341	0.31043	0.0:0.6159:0.3014:0.0827	.	143;240;240;240;240;240	B4E2C4;B2RCQ5;O75363-2;G3XAF7;A0AVG7;O75363	.;.;.;.;.;BCAS1_HUMAN	W	102;240;118;240;240;143	ENSP00000396361:G102W;ENSP00000360495:G240W;ENSP00000379290:G240W;ENSP00000360490:G240W;ENSP00000397442:G143W	ENSP00000360490:G240W	G	-	1	0	BCAS1	52078343	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.890000	0.28295	0.238000	0.21222	-0.257000	0.10917	GGG		0.557	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		7	198	7	198	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61513251	61513251	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:61513251C>A	ENST00000266070.4	-	16	4382	c.4057G>T	c.(4057-4059)Ggg>Tgg	p.G1353W	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1353					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGGCACCCCGTCCTCTGCT	0.577																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4057-4059)Ggg>Tgg		death inducer-obliterator 1							91.0	107.0	101.0					20																	61513251		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61513251C>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4057G>T	20.37:g.61513251C>A	ENSP00000266070:p.Gly1353Trp		Somatic				DIDO1_ENST00000395343.1_Missense_Mutation_p.G1353W	p.G1353W	NM_033081.2	NP_149072.2	WXS	Illumina GAIIx	Phase_I	Q9BTC0	DIDO1_HUMAN			16	4382	-	Breast(26;5.68e-08)		1353					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.4057G>T	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134688	0.56828	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.09723	2.95;2.95	5.4	3.04	0.35103	.	0.790616	0.10541	N	0.662729	T	0.28995	0.0720	M	0.75447	2.3	0.09310	N	1	D	0.69078	0.997	D	0.63283	0.913	T	0.07673	-1.0760	10	0.87932	D	0	-24.5856	9.0535	0.36392	0.0:0.7258:0.0:0.2742	.	1353	Q9BTC0	DIDO1_HUMAN	W	1353	ENSP00000266070:G1353W;ENSP00000378752:G1353W	ENSP00000266070:G1353W	G	-	1	0	DIDO1	60983696	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	1.432000	0.34936	0.516000	0.28340	0.563000	0.77884	GGG		0.577	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		5	163	5	163	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62854504	62854504	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:62854504G>T	ENST00000328439.1	+	15	2801	c.2437G>T	c.(2437-2439)Ggg>Tgg	p.G813W	MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000536311.1_Missense_Mutation_p.G840W	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACATCACCGGGAACTACGC	0.637																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(2518-2520)Ggg>Tgg		myelin transcription factor 1							150.0	146.0	148.0					20																	62854504		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62854504G>T	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2437G>T	20.37:g.62854504G>T	ENSP00000327465:p.Gly813Trp		Somatic				MYT1_ENST00000360149.4_Missense_Mutation_p.G515W|MYT1_ENST00000328439.1_Missense_Mutation_p.G813W	p.G840W			WXS	Illumina GAIIx	Phase_I	Q01538	MYT1_HUMAN			15	2882	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		813					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.2518G>T	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865425	0.71949	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.59638	0.77;0.25;0.26	5.5	5.5	0.81552	.	0.064329	0.64402	D	0.000009	T	0.81697	0.4877	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85301	0.1073	10	0.87932	D	0	-33.0508	19.3909	0.94583	0.0:0.0:1.0:0.0	.	840;813;515	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	W	515;813;840	ENSP00000353269:G515W;ENSP00000327465:G813W;ENSP00000442412:G840W	ENSP00000327465:G813W	G	+	1	0	MYT1	62324948	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.688000	0.98670	2.568000	0.86640	0.655000	0.94253	GGG		0.637	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		5	192	5	192	---	---	---	---
LTN1	26046	broad.mit.edu	37	21	30304866	30304866	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:30304866C>A	ENST00000361371.5	-	28	5075	c.4996G>T	c.(4996-4998)Ggg>Tgg	p.G1666W	LTN1_ENST00000389194.2_Missense_Mutation_p.G1712W			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1666					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G1666W(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTCTTTTCCCACTTTCTACT	0.403																																						ENST00000389194.2																			1	Substitution - Missense(1)	p.G1666W(1)	lung(1)	NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(5134-5136)Ggg>Tgg		listerin E3 ubiquitin protein ligase 1							186.0	184.0	184.0					21																	30304866		2203	4300	6503	SO:0001583	missense	26046						ligase activity|zinc ion binding	g.chr21:30304866C>A	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4996G>T	21.37:g.30304866C>A	ENSP00000354977:p.Gly1666Trp		Somatic				LTN1_ENST00000361371.5_Missense_Mutation_p.G1666W	p.G1712W	NM_015565.2	NP_056380.2	WXS	Illumina GAIIx	Phase_I	O94822	LTN1_HUMAN			28	5139	-			1666					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Missense_Mutation	SNP	ENST00000361371.5	37	c.5134G>T		.	.	.	.	.	.	.	.	.	.	C	22.8	4.331426	0.81690	.	.	ENSG00000198862	ENST00000389194;ENST00000361371	T;T	0.20881	2.04;2.05	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.54791	0.1880	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60234	-0.7303	10	0.66056	D	0.02	.	19.3813	0.94536	0.0:1.0:0.0:0.0	.	1666	O94822	LTN1_HUMAN	W	1712;1666	ENSP00000373846:G1712W;ENSP00000354977:G1666W	ENSP00000354977:G1666W	G	-	1	0	LTN1	29226737	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	7.443000	0.80521	2.798000	0.96311	0.655000	0.94253	GGG		0.403	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	NM_015565		7	264	7	264	---	---	---	---
PAXBP1	94104	broad.mit.edu	37	21	34117169	34117169	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:34117169C>A	ENST00000331923.4	-	13	2313	c.2124G>T	c.(2122-2124)gtG>gtT	p.V708V	PAXBP1_ENST00000290178.4_Silent_p.V708V|PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	708				Missing (in Ref. 5; AAD34617). {ECO:0000305}.	muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V708V(1)									GTGTAATTCCCACCATTCTTG	0.318																																						ENST00000331923.4																			1	Substitution - coding silent(1)	p.V708V(1)	lung(1)								c.(2122-2124)gtG>gtT		PAX3 and PAX7 binding protein 1							108.0	118.0	115.0					21																	34117169		2203	4298	6501	SO:0001819	synonymous_variant	94104							g.chr21:34117169C>A	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2124G>T	21.37:g.34117169C>A			Somatic				PAXBP1_ENST00000290178.4_Silent_p.V708V	p.V708V	NM_016631.3	NP_057715.2	WXS	Illumina GAIIx	Phase_I					13	2313	-								D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	c.2124G>T	CCDS13619.1																																																																																				0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329		6	177	6	177	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43223036	43223036	+	Missense_Mutation	SNP	C	C	A	rs535368225		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:43223036C>A	ENST00000269844.3	-	30	3987	c.3877G>T	c.(3877-3879)Ggg>Tgg	p.G1293W	PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.G984W|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1293					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTTTCCCGTGCTTCCCT	0.577																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2950-2952)Ggg>Tgg		PR domain containing 15							149.0	162.0	157.0					21																	43223036		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43223036C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3877G>T	21.37:g.43223036C>A	ENSP00000269844:p.Gly1293Trp		Somatic				PRDM15_ENST00000538201.1_Missense_Mutation_p.G947W|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.G964W|PRDM15_ENST00000447207.2_Missense_Mutation_p.G927W|PRDM15_ENST00000269844.3_Missense_Mutation_p.G1293W	p.G984W	NM_001282934.1	NP_001269863.1	WXS	Illumina GAIIx	Phase_I	P57071	PRD15_HUMAN			24	3051	-			1293					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2950G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	c	12.74	2.028376	0.35797	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08546	3.13;3.13;3.14;3.12;3.08	4.9	-1.37	0.09056	.	.	.	.	.	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	D;P;P	0.64830	0.994;0.888;0.953	P;B;B	0.51615	0.675;0.256;0.24	T	0.30475	-0.9977	9	0.38643	T	0.18	-0.3593	3.0029	0.06019	0.3509:0.1849:0.0:0.4642	.	1293;984;964	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	W	984;964;947;927;1293	ENSP00000408592:G984W;ENSP00000381556:G964W;ENSP00000444044:G947W;ENSP00000390245:G927W;ENSP00000269844:G1293W	ENSP00000269844:G1293W	G	-	1	0	PRDM15	42096105	0.000000	0.05858	0.002000	0.10522	0.226000	0.24999	0.022000	0.13511	-0.131000	0.11578	-0.359000	0.07587	GGG		0.577	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		6	298	6	298	---	---	---	---
SLC19A1	6573	broad.mit.edu	37	21	46951361	46951361	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr21:46951361G>T	ENST00000311124.4	-	3	1043	c.891C>A	c.(889-891)ccC>ccA	p.P297P	SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	297					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	TGTTGGTGGTGGGGTCCACCT	0.657																																						ENST00000311124.4																			0				endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10						c.(889-891)ccC>ccA		solute carrier family 19 (folate transporter), member 1							56.0	63.0	60.0					21																	46951361		2203	4300	6503	SO:0001819	synonymous_variant	6573				folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity	g.chr21:46951361G>T	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.891C>A	21.37:g.46951361G>T			Somatic				SLC19A1_ENST00000567670.1_Silent_p.P297P|SLC19A1_ENST00000380010.4_Silent_p.P297P|SLC19A1_ENST00000485649.2_Silent_p.P257P	p.P297P	NM_194255.2	NP_919231.1	WXS	Illumina GAIIx	Phase_I	P41440	S19A1_HUMAN		Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	3	1043	-			297					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000311124.4	37	c.891C>A	CCDS13725.1	.	.	.	.	.	.	.	.	.	.	g	10.80	1.453920	0.26161	.	.	ENSG00000173638	ENST00000417954	D	0.85411	-1.98	4.33	-1.53	0.08611	.	0.593958	0.17670	N	0.165995	T	0.77987	0.4213	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.68907	-0.5285	7	0.62326	D	0.03	-11.7023	1.984	0.03433	0.2395:0.3597:0.2725:0.1283	.	.	.	.	Q	32	ENSP00000393988:P32Q	ENSP00000393988:P32Q	P	-	2	0	SLC19A1	45775789	0.012000	0.17670	0.000000	0.03702	0.575000	0.36095	-0.747000	0.04823	-0.246000	0.09611	0.313000	0.20887	CCA		0.657	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206796.1			5	95	5	95	---	---	---	---
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:16287667C>A	ENST00000343518.6	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577																																						ENST00000343518.6																			1	Substitution - coding silent(1)	p.R73R(1)	lung(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(217-219)agG>agT		POTE ankyrin domain family, member H							98.0	113.0	108.0					22																	16287667		2095	3915	6010	SO:0001583	missense	23784							g.chr22:16287667C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.219G>T	22.37:g.16287667C>A	ENSP00000340610:p.Arg73Ser		Somatic					p.R73S	NM_001136213.1	NP_001129685.1	WXS	Illumina GAIIx	Phase_I	Q6S545	POTEH_HUMAN			1	270	-			73					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.219G>T	CCDS46658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|.	5.509|5.509	0.278802|0.278802	0.10458|0.10458	.|.	.|.	ENSG00000198062|ENSG00000198062	ENST00000359587|ENST00000343518;ENST00000355872	.|T	.|0.31510	.|1.49	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.26774	.|0.0655	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P	.|0.34662	.|0.462	.|B	.|0.36534	.|0.227	.|T	.|0.25710	.|-1.0124	.|7	.|0.87932	.|D	.|0	.|.	.|.	.|.	.|.	.|.	.|73	.|Q6S545	.|POTEH_HUMAN	.|S	-1|73	.|ENSP00000340610:R73S	.|ENSP00000340610:R73S	.|R	-|-	.|3	.|2	POTEH|POTEH	14667667|14667667	0.010000|0.010000	0.17322|0.17322	0.050000|0.050000	0.19076|0.19076	0.051000|0.051000	0.14879|0.14879	0.275000|0.275000	0.18698|0.18698	0.149000|0.149000	0.19098|0.19098	0.152000|0.152000	0.16155|0.16155	.|AGG		0.577	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	329	8	329	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17688080	17688080	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:17688080C>A	ENST00000399839.1	-	3	693	c.423G>T	c.(421-423)agG>agT	p.R141S	CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	141	PRB domain.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GCATGATCCCCCTTGGGGTGA	0.537																																						ENST00000399839.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25						c.(421-423)agG>agT		cat eye syndrome chromosome region, candidate 1							148.0	143.0	145.0					22																	17688080		2203	4300	6503	SO:0001583	missense	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17688080C>A	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.423G>T	22.37:g.17688080C>A	ENSP00000382733:p.Arg141Ser		Somatic				CECR1_ENST00000449907.2_Missense_Mutation_p.R99S|CECR1_ENST00000399837.2_Missense_Mutation_p.R141S|CECR1_ENST00000262607.3_Missense_Mutation_p.R141S	p.R141S	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	WXS	Illumina GAIIx	Phase_I	Q9NZK5	CECR1_HUMAN			3	693	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	141			PRB domain.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	c.423G>T	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	C	5.479	0.273354	0.10403	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837;ENST00000543038	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.34	-1.83	0.07833	.	0.552015	0.18856	N	0.129251	T	0.63390	0.2507	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48811	-0.9002	10	0.09338	T	0.73	.	8.8334	0.35098	0.4724:0.4496:0.0:0.078	.	141	Q9NZK5	CECR1_HUMAN	S	141;141;99;141;141	ENSP00000382733:R141S;ENSP00000262607:R141S;ENSP00000406443:R99S;ENSP00000382731:R141S;ENSP00000442482:R141S	ENSP00000262607:R141S	R	-	3	2	CECR1	16068080	0.000000	0.05858	0.004000	0.12327	0.004000	0.04260	-0.170000	0.09897	-0.057000	0.13199	0.555000	0.69702	AGG		0.537	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			6	130	6	130	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19198013	19198013	+	Silent	SNP	T	T	C	rs372241985		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3070-3072)ctA>ctG		clathrin, heavy chain-like 1							51.0	51.0	51.0					22																	19198013		2057	4195	6252	SO:0001819	synonymous_variant	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19198013T>C		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3072A>G	22.37:g.19198013T>C			Somatic				CLTCL1_ENST00000427926.1_Silent_p.L1024L|CLTCL1_ENST00000353891.5_Silent_p.L1024L	p.L1024L	NM_007098.3	NP_009029.3	WXS	Illumina GAIIx	Phase_I	P53675	CLH2_HUMAN			20	3144	-	Colorectal(54;0.0993)		1024			Heavy chain arm.|Proximal segment.		B7Z7U5|Q14017|Q15808|Q15809	Silent	SNP	ENST00000263200.10	37	c.3072A>G	CCDS46662.1																																																																																				0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		3	47	3	47	---	---	---	---
YPEL1	29799	broad.mit.edu	37	22	22065049	22065049	+	De_novo_Start_OutOfFrame	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:22065049C>A	ENST00000339468.3	-	0	368				YPEL1_ENST00000403503.1_De_novo_Start_OutOfFrame	NM_013313.3	NP_037445.1	O60688	YPEL1_HUMAN	yippee-like 1 (Drosophila)							nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(1)	3	Colorectal(54;0.105)					CTGGGCACTCCTCACTCAGCT	0.532																																						ENST00000339468.3																			0				breast(1)|large_intestine(1)|lung(1)	3								yippee-like 1 (Drosophila)							192.0	170.0	177.0					22																	22065049		2203	4300	6503			29799					nucleus		g.chr22:22065049C>A	AF060862	CCDS13794.1	22q11.2	2008-02-04	2001-11-28		ENSG00000100027	ENSG00000100027			12845	protein-coding gene	gene with protein product		608082	"""yippee (Drosophila) homolog-like 1"""			11473580	Standard	NM_013313		Approved		uc002zvl.3	O60688	OTTHUMG00000150830	ENST00000339468.3:c.-16G>T	22.37:g.22065049C>A			Somatic				YPEL1_ENST00000403503.1_De_novo_Start_OutOfFrame		NM_013313.3	NP_037445.1	WXS	Illumina GAIIx	Phase_I	O60688	YPEL1_HUMAN			0	368	-	Colorectal(54;0.105)							Q65ZA1|Q6GLI6	Translation_Start_Site	SNP	ENST00000339468.3	37		CCDS13794.1																																																																																				0.532	YPEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320245.1	NM_013313		6	149	6	149	---	---	---	---
RAB36	9609	broad.mit.edu	37	22	23500217	23500217	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23500217C>A	ENST00000263116.2	+	7	671	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	211					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		CGTGCAGACCCTGGAGCATAC	0.627																																						ENST00000263116.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(631-633)Ctg>Atg		RAB36, member RAS oncogene family							154.0	144.0	147.0					22																	23500217		2203	4300	6503	SO:0001583	missense	9609				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr22:23500217C>A	AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"""RAB, member RAS oncogene"""	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.631C>A	22.37:g.23500217C>A	ENSP00000263116:p.Leu211Met		Somatic				RAB36_ENST00000341989.4_Missense_Mutation_p.L189M	p.L211M	NM_004914.2	NP_004905.2	WXS	Illumina GAIIx	Phase_I	O95755	RAB36_HUMAN		READ - Rectum adenocarcinoma(21;0.155)	7	671	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		211					Q2M390|Q7Z4A9|Q9UHP5	Missense_Mutation	SNP	ENST00000263116.2	37	c.631C>A	CCDS13805.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.888969	0.72524	.	.	ENSG00000100228	ENST00000263116;ENST00000341989	T;T	0.79554	-1.28;-1.28	5.37	4.34	0.51931	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000007	D	0.88217	0.6377	M	0.80616	2.505	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.88482	0.3069	10	0.87932	D	0	-22.9986	9.3236	0.37980	0.0:0.9035:0.0:0.0965	.	189;211	O95755-2;O95755	.;RAB36_HUMAN	M	211;189	ENSP00000263116:L211M;ENSP00000343494:L189M	ENSP00000263116:L211M	L	+	1	2	RAB36	21830217	0.938000	0.31826	0.995000	0.50966	0.838000	0.47535	1.941000	0.40233	2.677000	0.91161	0.557000	0.71058	CTG		0.627	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319046.1	NM_004914		7	192	7	192	---	---	---	---
BCR	613	broad.mit.edu	37	22	23524102	23524102	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:23524102C>A	ENST00000305877.8	+	1	1706	c.955C>A	c.(955-957)Cgg>Agg	p.R319R	BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	319	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CTACTCCCCCCGGAGTTTTGA	0.652			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(955-957)Cgg>Agg		breakpoint cluster region							22.0	24.0	23.0					22																	23524102		2203	4299	6502	SO:0001819	synonymous_variant	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23524102C>A		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.955C>A	22.37:g.23524102C>A			Somatic				BCR_ENST00000359540.3_Silent_p.R319R|BCR_ENST00000398512.5_Silent_p.R319R	p.R319R	NM_004327.3	NP_004318.3	WXS	Illumina GAIIx	Phase_I	P11274	BCR_HUMAN			1	1706	+			319			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	c.955C>A	CCDS13806.1																																																																																				0.652	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		3	21	3	21	---	---	---	---
GGT1	2678	broad.mit.edu	37	22	24982284	24982284	+	Intron	SNP	C	C	T	rs376304947		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:24982284C>T	ENST00000248923.4	+	1	59				FAM211B_ENST00000495297.1_5'Flank|FAM211B_ENST00000318753.8_Missense_Mutation_p.R173H	NM_013430.2	NP_038347.2	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1						arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GCTCAGGTAGCGTGTGATGTG	0.627																																						ENST00000318753.8																			0											c.(517-519)cGc>cAc		family with sequence similarity 211, member B		C	,HIS/ARG	2,4374	4.2+/-10.8	0,2,2186	136.0	150.0	145.0		,518	-1.3	0.2	22		145	0,8570		0,0,4285	no	intron,missense	GGT1,C22orf36	NM_013430.2,NM_207644.2	,29	0,2,6471	TT,TC,CC		0.0,0.0457,0.0154	,benign	,173/316	24982284	2,12944	2188	4285	6473	SO:0001627	intron_variant	388886							g.chr22:24982284C>T	M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000248923.4:c.-429+2508C>T	22.37:g.24982284C>T			Somatic				GGT1_ENST00000248923.4_Intron	p.R173H	NM_207644.2	NP_997527.2	WXS	Illumina GAIIx	Phase_I	Q2VPJ9	LRC6X_HUMAN			4	541	-			173					Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000248923.4	37	c.518G>A	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	C	4.254	0.046256	0.08243	4.57E-4	0.0	ENSG00000178026	ENST00000318753	T	0.29917	1.55	3.35	-1.31	0.09230	.	0.598985	0.16523	N	0.210739	T	0.10294	0.0252	N	0.04880	-0.145	0.22866	N	0.99864	B	0.02656	0.0	B	0.04013	0.001	T	0.28038	-1.0056	10	0.15499	T	0.54	-14.6243	3.9091	0.09196	0.1677:0.4057:0.0:0.4266	.	173	Q2VPJ9	LRC6X_HUMAN	H	173	ENSP00000320520:R173H	ENSP00000320520:R173H	R	-	2	0	C22orf36	23312284	0.058000	0.20735	0.250000	0.24296	0.001000	0.01503	-0.160000	0.10041	-0.066000	0.12998	-1.327000	0.01280	CGC		0.627	GGT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319110.1	NM_013430		81	130	81	130	---	---	---	---
TMEM211	255349	broad.mit.edu	37	22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000423535.1	-	3	588	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*|TMEM211_ENST00000407886.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493																																						ENST00000407886.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						c.(376-378)Gaa>Taa		transmembrane protein 211							86.0	86.0	86.0					22																	25331314		2203	4300	6503	SO:0001587	stop_gained	255349					integral to membrane		g.chr22:25331314C>A		CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.589G>T	22.37:g.25331314C>A	ENSP00000387813:p.Glu197*		Somatic				TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*	p.E126*			WXS	Illumina GAIIx	Phase_I	Q6ICI0	TM211_HUMAN			4	628	-			197						Nonsense_Mutation	SNP	ENST00000423535.1	37	c.376G>T		.	.	.	.	.	.	.	.	.	.	C	11.58	1.682301	0.29872	.	.	ENSG00000206069	ENST00000407886;ENST00000423535;ENST00000382744	.	.	.	4.26	4.26	0.50523	.	0.198839	0.34110	N	0.004252	.	.	.	.	.	.	0.33356	D	0.571658	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-34.5777	8.2082	0.31467	0.0:0.892:0.0:0.108	.	.	.	.	X	126;197;126	.	ENSP00000372192:E126X	E	-	1	0	TMEM211	23661314	0.999000	0.42202	0.961000	0.40146	0.221000	0.24807	2.311000	0.43717	2.369000	0.80426	0.455000	0.32223	GAA		0.493	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001663		42	80	42	80	---	---	---	---
ASCC2	84164	broad.mit.edu	37	22	30200815	30200815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:30200815C>A	ENST00000397771.2	-	14	1342	c.1165G>T	c.(1165-1167)Gag>Tag	p.E389*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*|ASCC2_ENST00000478812.1_5'Flank			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	389					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTCCGCGTCTCGTCCCTGTGA	0.547																																						ENST00000397771.2																			0				endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(1165-1167)Gag>Tag		activating signal cointegrator 1 complex subunit 2							230.0	196.0	207.0					22																	30200815		2203	4300	6503	SO:0001587	stop_gained	84164				regulation of transcription, DNA-dependent|transcription, DNA-dependent			g.chr22:30200815C>A	AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1165G>T	22.37:g.30200815C>A	ENSP00000380877:p.Glu389*		Somatic				ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E389*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E313*	p.E389*			WXS	Illumina GAIIx	Phase_I	Q9H1I8	ASCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)		14	1342	-			389					B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Nonsense_Mutation	SNP	ENST00000397771.2	37	c.1165G>T	CCDS13869.1	.	.	.	.	.	.	.	.	.	.	C	39	7.440246	0.98286	.	.	ENSG00000100325	ENST00000307790;ENST00000397771;ENST00000542393	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-30.6634	17.8532	0.88754	0.0:1.0:0.0:0.0	.	.	.	.	X	389;389;313	.	ENSP00000305502:E389X	E	-	1	0	ASCC2	28530815	1.000000	0.71417	0.986000	0.45419	0.445000	0.32107	6.443000	0.73447	2.769000	0.95229	0.563000	0.77884	GAG		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322127.1	NM_032204		6	232	6	232	---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31328983	31328983	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:31328983C>A	ENST00000397641.3	-	22	2823	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R743S			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	805						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGTACCACTCCCTGTTCACAC	0.577																																						ENST00000397641.3																			0				breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						c.(2413-2415)agG>agT		MORC family CW-type zinc finger 2							264.0	237.0	246.0					22																	31328983		2203	4300	6503	SO:0001583	missense	22880						ATP binding|zinc ion binding	g.chr22:31328983C>A	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2415G>T	22.37:g.31328983C>A	ENSP00000380763:p.Arg805Ser		Somatic				MORC2_ENST00000215862.4_Missense_Mutation_p.R743S	p.R805S			WXS	Illumina GAIIx	Phase_I	Q9Y6X9	MORC2_HUMAN			22	2823	-								B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	ENST00000397641.3	37	c.2415G>T		.	.	.	.	.	.	.	.	.	.	C	16.85	3.235674	0.58886	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.11930	2.73;2.73	5.95	1.58	0.23477	.	0.316336	0.39909	N	0.001238	T	0.09555	0.0235	L	0.36672	1.1	0.80722	D	1	B	0.20887	0.049	B	0.16722	0.016	T	0.15122	-1.0448	10	0.44086	T	0.13	.	6.0588	0.19826	0.1243:0.6157:0.0:0.26	.	805	Q9Y6X9	MORC2_HUMAN	S	805;743	ENSP00000380763:R805S;ENSP00000215862:R743S	ENSP00000215862:R743S	R	-	3	2	MORC2	29658983	0.991000	0.36638	0.999000	0.59377	0.998000	0.95712	0.373000	0.20484	0.414000	0.25790	0.655000	0.94253	AGG		0.577	MORC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000321710.2	NM_014941		9	317	9	317	---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1464312	1464312	+	Silent	SNP	C	C	A			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:1464312C>A	ENST00000331035.4	+	3	517	c.168C>A	c.(166-168)gcC>gcA	p.A56A	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	56					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAAAGACGCCGACTATTCTA	0.348																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(166-168)gcC>gcA		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						260.0	242.0	248.0					X																	1464312		2200	4296	6496	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464312C>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.168C>A	X.37:g.1464312C>A			Somatic				IL3RA_ENST00000381469.2_Intron	p.A56A	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	WXS	Illumina GAIIx	Phase_I	P26951	IL3RA_HUMAN			3	517	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	56					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.168C>A	CCDS14113.1																																																																																				0.348	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			5	225	5	225	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811275	5811275	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:5811275G>T	ENST00000381095.3	-	6	2661	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	678					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.T678T(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGACGGCAATGGTGACACTTA	0.512																																						ENST00000381095.3																			1	Substitution - coding silent(1)	p.T678T(1)	lung(1)	breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(2032-2034)acC>acA		neuroligin 4, X-linked							105.0	102.0	103.0					X																	5811275		2203	4298	6501	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811275G>T	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2034C>A	X.37:g.5811275G>T			Somatic				NLGN4X_ENST00000275857.6_Silent_p.T678T|NLGN4X_ENST00000381093.2_Silent_p.T698T|NLGN4X_ENST00000381092.1_Silent_p.T678T|NLGN4X_ENST00000538097.1_Silent_p.T678T	p.T678T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	WXS	Illumina GAIIx	Phase_I	Q8N0W4	NLGNX_HUMAN			6	2661	-			678					Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2034C>A	CCDS14126.1																																																																																				0.512	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		5	77	5	77	---	---	---	---
KAL1	3730	broad.mit.edu	37	X	8502428	8502428	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:8502428G>T	ENST00000262648.3	-	13	2065	c.1916C>A	c.(1915-1917)cCa>cAa	p.P639Q	KAL1_ENST00000481896.1_5'Flank	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	639	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						CTCCCCTCCTGGGGTCAGCAC	0.562																																						ENST00000262648.3																			0				breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						c.(1915-1917)cCa>cAa		Kallmann syndrome 1 sequence							68.0	46.0	54.0					X																	8502428		2203	4300	6503	SO:0001583	missense	3730				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity	g.chrX:8502428G>T		CCDS14130.1	Xp22.32	2013-02-11			ENSG00000011201	ENSG00000011201		"""WAP four-disulfide core domain containing"", ""Fibronectin type III domain containing"""	6211	protein-coding gene	gene with protein product	"""anosmin-1"", ""WAP four-disulfide core domain 19"""	300836		KAL, ADMLX		11463336	Standard	NM_000216		Approved	KALIG-1, WFDC19	uc004csf.3	P23352	OTTHUMG00000021107	ENST00000262648.3:c.1916C>A	X.37:g.8502428G>T	ENSP00000262648:p.Pro639Gln		Somatic					p.P639Q	NM_000216.2	NP_000207.2	WXS	Illumina GAIIx	Phase_I	P23352	KALM_HUMAN			13	2065	-			639			Fibronectin type-III 4.		B2RPF8	Missense_Mutation	SNP	ENST00000262648.3	37	c.1916C>A	CCDS14130.1	.	.	.	.	.	.	.	.	.	.	G	8.349	0.830479	0.16749	.	.	ENSG00000011201	ENST00000262648	T	0.55413	0.52	4.21	3.35	0.38373	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.362898	0.30791	N	0.008877	T	0.34716	0.0907	N	0.08118	0	0.09310	N	1	B	0.27380	0.177	B	0.37387	0.248	T	0.31971	-0.9924	10	0.23891	T	0.37	-0.3646	10.5048	0.44828	0.0978:0.0:0.9022:0.0	.	639	P23352	KALM_HUMAN	Q	639	ENSP00000262648:P639Q	ENSP00000262648:P639Q	P	-	2	0	KAL1	8462428	0.893000	0.30496	0.001000	0.08648	0.112000	0.19704	5.116000	0.64661	0.633000	0.30452	0.600000	0.82982	CCA		0.562	KAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055692.1	NM_000216		4	20	4	20	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48847438	48847438	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:48847438G>T	ENST00000376441.1	-	7	576	c.542C>A	c.(541-543)cCc>cAc	p.P181H	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.P128H|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	181						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CAGGACGGTGGGGGCCGGGCC	0.607																																						ENST00000376423.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						c.(382-384)cCc>cAc		GRIP1 associated protein 1							42.0	42.0	42.0					X																	48847438		2201	4299	6500	SO:0001583	missense	56850					early endosome		g.chrX:48847438G>T	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.542C>A	X.37:g.48847438G>T	ENSP00000365624:p.Pro181His		Somatic				GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.P136H|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.P181H|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.P181H	p.P128H			WXS	Illumina GAIIx	Phase_I	Q4V328	GRAP1_HUMAN			6	415	-			181					A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.383C>A	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776714	0.31411	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	.	.	.	4.21	3.33	0.38152	.	0.644397	0.14697	N	0.303794	T	0.26304	0.0642	N	0.08118	0	0.09310	N	1	B;B;P	0.47409	0.429;0.005;0.895	B;B;P	0.49301	0.323;0.021;0.606	T	0.06092	-1.0846	9	0.51188	T	0.08	-0.6032	9.0661	0.36465	0.1145:0.0:0.8855:0.0	.	128;71;181	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	H	181;136;181;181;128	.	ENSP00000365606:P128H	P	-	2	0	GRIPAP1	48732382	0.053000	0.20554	0.003000	0.11579	0.079000	0.17450	0.654000	0.24918	0.866000	0.35629	0.556000	0.70494	CCC		0.607	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		5	47	5	47	---	---	---	---
SYP	6855	broad.mit.edu	37	X	49050744	49050744	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:49050744G>T	ENST00000263233.4	-	4	374	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	SYP_ENST00000479808.1_Missense_Mutation_p.S101Y|SYP_ENST00000538567.1_5'UTR	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	101	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular response to organic substance (GO:0071310)|endocytosis (GO:0006897)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle membrane organization (GO:0048499)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	cholesterol binding (GO:0015485)|protein self-association (GO:0043621)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGCTGACGAGGAGTAGTCCCC	0.572																																						ENST00000263233.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15						c.(301-303)tCc>tAc		synaptophysin							99.0	81.0	87.0					X																	49050744		2203	4300	6503	SO:0001583	missense	6855				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	g.chrX:49050744G>T	X06389	CCDS14321.1	Xp11.23-p11.22	2014-02-19			ENSG00000102003	ENSG00000102003			11506	protein-coding gene	gene with protein product		313475				3120152, 19377476	Standard	NM_003179		Approved	MRX96	uc004dmz.1	P08247	OTTHUMG00000034557	ENST00000263233.4:c.302C>A	X.37:g.49050744G>T	ENSP00000263233:p.Ser101Tyr		Somatic				SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.S101Y	p.S101Y	NM_003179.2	NP_003170.1	WXS	Illumina GAIIx	Phase_I	P08247	SYPH_HUMAN			4	374	-		all_lung(315;0.00016)	101			MARVEL.		B2R7L6|B7Z359|Q6P2F7	Missense_Mutation	SNP	ENST00000263233.4	37	c.302C>A	CCDS14321.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431309	0.83776	.	.	ENSG00000102003	ENST00000263233;ENST00000479808	T;T	0.28454	1.61;1.61	4.48	4.48	0.54585	Marvel (1);MARVEL-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62672	0.2447	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72659	-0.4226	10	0.87932	D	0	2.6218	15.1432	0.72626	0.0:0.0:1.0:0.0	.	101	P08247	SYPH_HUMAN	Y	101	ENSP00000263233:S101Y;ENSP00000418169:S101Y	ENSP00000263233:S101Y	S	-	2	0	SYP	48937688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.596000	0.98267	2.077000	0.62373	0.600000	0.82982	TCC		0.572	SYP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083625.2	NM_003179		4	31	4	31	---	---	---	---
SLC6A14	11254	broad.mit.edu	37	X	115572207	115572207	+	Silent	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:115572207G>T	ENST00000371900.4	+	3	376	c.288G>T	c.(286-288)ctG>ctT	p.L96L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	96					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGTGTTCACTGGGACAATTTG	0.388																																						ENST00000371900.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23						c.(286-288)ctG>ctT		solute carrier family 6 (amino acid transporter), member 14	L-Proline(DB00172)						360.0	317.0	331.0					X																	115572207		2203	4300	6503	SO:0001819	synonymous_variant	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115572207G>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.288G>T	X.37:g.115572207G>T			Somatic					p.L96L	NM_007231.3	NP_009162.1	WXS	Illumina GAIIx	Phase_I	Q9UN76	S6A14_HUMAN			3	376	+			96					Q5H942	Silent	SNP	ENST00000371900.4	37	c.288G>T	CCDS14570.1																																																																																				0.388	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1			6	168	6	168	---	---	---	---
DUSP9	1852	broad.mit.edu	37	X	152915608	152915608	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chrX:152915608G>T	ENST00000342782.3	+	4	1268	c.1003G>T	c.(1003-1005)Ggg>Tgg	p.G335W	DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	335	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAACTTCATGGGGCAGTTGCT	0.602																																						ENST00000342782.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16						c.(1003-1005)Ggg>Tgg		dual specificity phosphatase 9							215.0	187.0	196.0					X																	152915608		2203	4300	6503	SO:0001583	missense	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915608G>T	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.1003G>T	X.37:g.152915608G>T	ENSP00000345853:p.Gly335Trp		Somatic				DUSP9_ENST00000370167.4_Missense_Mutation_p.G335W	p.G335W			WXS	Illumina GAIIx	Phase_I	Q99956	DUS9_HUMAN			4	1268	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		335			Tyrosine-protein phosphatase.		D3DWU5	Missense_Mutation	SNP	ENST00000342782.3	37	c.1003G>T	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	25.6|25.6	4.654026|4.654026	0.88056|0.88056	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000370167;ENST00000342782|ENST00000433144	D;D|.	0.86164|.	-2.08;-2.08|.	4.53|4.53	4.53|4.53	0.55603|0.55603	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.75391|0.75391	0.3843|0.3843	M|M	0.77712|0.77712	2.385|2.385	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77219|0.77219	-0.2668|-0.2668	10|5	0.87932|.	D|.	0|.	.|.	15.4615|15.4615	0.75359|0.75359	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	Q99956|.	DUS9_HUMAN|.	W|C	335|305	ENSP00000359186:G335W;ENSP00000345853:G335W|.	ENSP00000345853:G335W|.	G|W	+|+	1|3	0|0	DUSP9|DUSP9	152568802|152568802	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.413000|9.413000	0.97351|0.97351	2.248000|2.248000	0.74166|0.74166	0.529000|0.529000	0.55759|0.55759	GGG|TGG		0.602	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		6	122	6	122	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65273529	65273531	+	lincRNA	DEL	TTG	TTG	-			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:65273529_65273531delTTG	ENST00000534336.1	+	0	8297_8299					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		ACAACACGTATTGTTTTCTCAGG	0.414																																						ENST00000534336.1																			0																																																			378938							g.chr11:65273529_65273531delTTG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273529_65273531delTTG			Somatic						NR_002819.2		WXS	Illumina GAIIx	Phase_I					0	8297_8299	+									RNA	DEL	ENST00000534336.1	37																																																																																						0.414	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		21	66	21	66	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1569)gatttgfs	p.L523fs	SNORA73_ENST00000363107.1_RNA|MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	523					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411																																						ENST00000261537.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(1564-1569)gatttgfs		mindbomb E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19395662_19395663insT	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1568dupT	18.37:g.19395665_19395665dupT	ENSP00000261537:p.Leu523fs		Somatic				MIB1_ENST00000578646.1_3'UTR	p.L523fs	NM_020774.2	NP_065825.1	WXS	Illumina GAIIx	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		11	1829_1830	+			523					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Ins	INS	ENST00000261537.6	37	c.1565_1566insT	CCDS11871.1																																																																																				0.411	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		21	61	21	61	---	---	---	---
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly		Somatic				IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G	NM_001282387.1	NP_001269316.1	WXS	Illumina GAIIx	Phase_I	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			20	53	20	53	---	---	---	---
