#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
PRAMEF2	65122	broad.mit.edu	37	1	12919080	12919080	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:12919080G>A	ENST00000240189.2	+	2	303	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	72			T -> R (in dbSNP:rs9659529).		negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGACGCTTCATCTGG	0.552																																						uc001aum.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(214-216)acG>acA		Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.							153.0	163.0	159.0					1																	12919080		2201	4296	6497	SO:0001819	synonymous_variant	65122							g.chr1:12919080G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.216G>A	1.37:g.12919080G>A							p.T72T	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	303	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	72		T -> R (in dbSNP:rs9659529).				Silent	SNP	ENST00000240189.2	37	c.216G>A	CCDS149.1																																																																																				0.552	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
SPEN	23013	broad.mit.edu	37	1	16199442	16199442	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:16199442G>C	ENST00000375759.3	+	2	419	c.215G>C	c.(214-216)aGa>aCa	p.R72T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	72	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGTGACAGAGACCTACGC	0.493																																						uc001axk.1																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(214-216)aGa>aCa		Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.							122.0	116.0	118.0					1																	16199442		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16199442G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.215G>C	1.37:g.16199442G>C	ENSP00000364912:p.Arg72Thr					SPEN_uc010obp.1_5'Flank	p.R72T	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	1	419	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	72			RRM 1.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.215G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.579210	0.46006	.	.	ENSG00000065526	ENST00000375759	T	0.09350	2.99	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	.	.	.	.	T	0.31071	0.0785	L	0.52266	1.64	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00520	-1.1692	9	0.87932	D	0	-2.4267	19.8477	0.96722	0.0:0.0:1.0:0.0	.	72	Q96T58	MINT_HUMAN	T	72	ENSP00000364912:R72T	ENSP00000364912:R72T	R	+	2	0	SPEN	16072029	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.704000	0.92352	0.650000	0.86243	AGA		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
TCEA3	6920	broad.mit.edu	37	1	23720438	23720438	+	Silent	SNP	G	G	A	rs371648023	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:23720438G>A	ENST00000450454.2	-	8	859	c.753C>T	c.(751-753)ccC>ccT	p.P251P		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	251	TFIIS central. {ECO:0000255|PROSITE- ProRule:PRU00651}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCCGCAGGCCGGGGTTCCTGG	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.002					uc021oig.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7						c.(751-753)ccC>ccT		Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.							60.0	67.0	65.0					1																	23720438		1982	4155	6137	SO:0001819	synonymous_variant	6920				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding	g.chr1:23720438G>A	AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.753C>T	1.37:g.23720438G>A						TCEA3_uc009vqm.2_Silent_p.P20P	p.P251P	NM_003196	NP_003187	O75764	TCEA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)	7	888	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)	251			TFIIS central.		A8K2K7|Q5DR83	Silent	SNP	ENST00000450454.2	37	c.753C>T	CCDS44086.1																																																																																				0.597	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008911.2	NM_003196	
MPL	4352	broad.mit.edu	37	1	43817970	43817970	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:43817970G>A	ENST00000372470.3	+	11	1691	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	550					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	GCAGCCCTGAGCCCGGTGAGT	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	uc001ciw.3			yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	Mis	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	congenital amegakaryocytic thrombocytopenia	L		MPD	MPD		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567						c.(1648-1650)aGc>aAc		Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.							132.0	111.0	118.0					1																	43817970		2203	4300	6503	SO:0001583	missense	4352				cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	g.chr1:43817970G>A	M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1649G>A	1.37:g.43817970G>A	ENSP00000361548:p.Ser550Asn					MPL_uc009vwr.3_Missense_Mutation_p.S543N	p.S550N	NM_005373	NP_005364	P40238	TPOR_HUMAN			10	1694	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	550					Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	c.1649G>A	CCDS483.1	.	.	.	.	.	.	.	.	.	.	g	4.642	0.119426	0.08881	.	.	ENSG00000117400	ENST00000372470	D	0.81821	-1.54	3.67	0.564	0.17302	.	0.109289	0.33792	U	0.004555	T	0.72803	0.3506	L	0.60455	1.87	0.80722	D	1	P;P	0.43633	0.813;0.722	B;B	0.42188	0.379;0.243	T	0.64728	-0.6339	10	0.26408	T	0.33	0.0226	6.9753	0.24672	0.3289:0.0:0.6711:0.0	.	543;550	Q308M1;P40238	.;TPOR_HUMAN	N	550	ENSP00000361548:S550N	ENSP00000361548:S550N	S	+	2	0	MPL	43590557	1.000000	0.71417	0.996000	0.52242	0.184000	0.23303	1.865000	0.39479	0.230000	0.21059	0.306000	0.20318	AGC		0.607	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
DAB1	1600	broad.mit.edu	37	1	57480758	57480758	+	Silent	SNP	C	C	T	rs147876561	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:57480758C>T	ENST00000371231.1	-	13	1375	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	DAB1_ENST00000439789.2_Silent_p.T328T|DAB1_ENST00000414851.2_Silent_p.T396T|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.T412T|DAB1_ENST00000371234.4_Silent_p.T414T|DAB1_ENST00000371236.2_Silent_p.T414T			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	447					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AATCCTTAAACGTTTCTTTGC	0.602																																						uc009vzx.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1240-1242)acG>acA		Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	77.0	77.0	77.0		1242	1.7	1.0	1	dbSNP_134	77	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	DAB1	NM_021080.3		0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308		414/556	57480758	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480758C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1341G>A	1.37:g.57480758C>T						DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T	p.T414T	NM_021080	NP_066566	O75553	DAB1_HUMAN			11	1562	-			447					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1242G>A																																																																																					0.602	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
DCLRE1B	64858	broad.mit.edu	37	1	114454524	114454524	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:114454524C>G	ENST00000369563.3	+	4	1756	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	437					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		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)		CACTTAAGGTCTACAGATGAG	0.473								Other identified genes with known or suspected DNA repair function																														uc001eeg.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18						c.(1309-1311)tCt>tGt	Other identified genes with known or suspected DNA repair function	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.							162.0	180.0	174.0					1																	114454524		2203	4300	6503	SO:0001583	missense	64858				cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding	g.chr1:114454524C>G	BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1310C>G	1.37:g.114454524C>G	ENSP00000358576:p.Ser437Cys					DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C	p.S437C	NM_022836	NP_073747	Q9H816	DCR1B_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)	3	1604	+	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)	437					Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	c.1310C>G	CCDS866.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340537	0.60963	.	.	ENSG00000118655	ENST00000369563	T	0.76448	-1.02	5.35	4.44	0.53790	.	0.838530	0.10774	N	0.635614	T	0.50871	0.1641	L	0.27053	0.805	0.09310	N	1	P	0.47034	0.889	B	0.40702	0.338	T	0.42447	-0.9451	10	0.51188	T	0.08	-14.9423	9.8836	0.41249	0.0:0.9058:0.0:0.0942	.	437	Q9H816	DCR1B_HUMAN	C	437	ENSP00000358576:S437C	ENSP00000358576:S437C	S	+	2	0	DCLRE1B	114256047	0.024000	0.19004	0.003000	0.11579	0.384000	0.30261	1.803000	0.38863	1.276000	0.44395	0.655000	0.94253	TCT		0.473	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2	NM_022836	
CD1D	912	broad.mit.edu	37	1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:158151257delT	ENST00000368171.3	+	3	573	c.74delT	c.(73-75)cttfs	p.L25fs		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592																																						uc001frr.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(73-75)cttfs		Homo sapiens CD1d molecule (CD1D), mRNA.							202.0	226.0	218.0					1																	158151257		2203	4300	6503	SO:0001589	frameshift_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158151257delT	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.74delT	1.37:g.158151257delT	ENSP00000357153:p.Leu25fs					CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	p.L25fs	NM_001766	NP_001757	P15813	CD1D_HUMAN			2	573	+	all_hematologic(112;0.0378)		25					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Frame_Shift_Del	DEL	ENST00000368171.3	37	c.74delT	CCDS1173.1																																																																																				0.592	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	
CRB1	23418	broad.mit.edu	37	1	197313558	197313558	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:197313558C>A	ENST00000367400.3	+	3	935	c.800C>A	c.(799-801)gCc>gAc	p.A267D	CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.A198D|CRB1_ENST00000538660.1_Missense_Mutation_p.A267D|CRB1_ENST00000367399.2_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	267	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAGTGTGCCAGTCAACCT	0.512																																						uc001gtz.3																			0		p.C266C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(799-801)gCc>gAc		Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.							241.0	213.0	222.0					1																	197313558		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197313558C>A		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.800C>A	1.37:g.197313558C>A	ENSP00000356370:p.Ala267Asp					CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript	p.A267D	NM_201253	NP_957705	P82279	CRUM1_HUMAN			2	1009	+			267			EGF-like 7; calcium-binding (Potential).		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.800C>A	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	C	6.001	0.368550	0.11352	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400	T;T;D	0.95238	-0.09;-0.09;-3.65	5.25	-0.195	0.13236	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.89241	0.6659	L	0.38733	1.17	0.09310	N	0.999999	P;P;B;B	0.40731	0.728;0.673;0.007;0.063	B;B;B;B	0.43018	0.138;0.405;0.004;0.063	T	0.80070	-0.1536	9	0.12103	T	0.63	.	6.7827	0.23654	0.3285:0.5309:0.0:0.1406	.	267;198;267;292	B7Z5T2;F5H0L2;P82279;Q59H36	.;.;CRUM1_HUMAN;.	D	198;267;267	ENSP00000438786:A198D;ENSP00000438091:A267D;ENSP00000356370:A267D	ENSP00000356370:A267D	A	+	2	0	CRB1	195580181	0.000000	0.05858	0.957000	0.39632	0.055000	0.15305	-0.518000	0.06267	0.543000	0.28864	0.650000	0.86243	GCC		0.512	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253	
IGFN1	91156	broad.mit.edu	37	1	201190709	201190709	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:201190709C>T	ENST00000335211.4	+	19	10166	c.10036C>T	c.(10036-10038)Ctc>Ttc	p.L3346F	IGFN1_ENST00000295591.8_Missense_Mutation_p.L506F|RP11-567E21.3_ENST00000453155.1_RNA	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	889						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGACAGTCTCCAGTGGCT	0.632																																						uc001gwc.3																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(10036-10038)Ctc>Ttc		Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.							50.0	41.0	45.0					1																	201190709		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201190709C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10036C>T	1.37:g.201190709C>T	ENSP00000334714:p.Leu3346Phe					IGFN1_uc001gwb.3_Non-coding_Transcript	p.L3346F	NM_001164586	NP_001158058					18	10166	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.10036C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.59|13.59	2.282496|2.282496	0.40394|0.40394	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|T	0.57595|0.57752	0.39;0.39|0.38	4.36|4.36	2.44|2.44	0.29823|0.29823	.|.	0.520238|.	0.15611|.	N|.	0.253389|.	T|T	0.57695|0.57695	0.2071|0.2071	M|M	0.72894|0.72894	2.215|2.215	0.09310|0.09310	N|N	1|1	D|.	0.69078|.	0.997|.	D|.	0.66716|.	0.946|.	T|T	0.48536|0.48536	-0.9027|-0.9027	10|6	0.41790|.	T|.	0.15|.	.|.	8.6777|8.6777	0.34189|0.34189	0.1711:0.664:0.1649:0.0|0.1711:0.664:0.1649:0.0	.|.	3346|.	F8WAI1|.	.|.	F|F	3346;506|763	ENSP00000334714:L3346F;ENSP00000295591:L506F|ENSP00000387975:S763F	ENSP00000295591:L506F|.	L|S	+|+	1|2	0|0	IGFN1|IGFN1	199457332|199457332	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.109000|0.109000	0.19521|0.19521	0.124000|0.124000	0.15728|0.15728	0.288000|0.288000	0.22398|0.22398	0.305000|0.305000	0.20034|0.20034	CTC|TCT		0.632	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
TLR5	7100	broad.mit.edu	37	1	223285038	223285038	+	Missense_Mutation	SNP	G	G	A	rs200696063		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:223285038G>A	ENST00000540964.1	-	4	1797	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TLR5_ENST00000342210.6_Missense_Mutation_p.R446W			O60602	TLR5_HUMAN	toll-like receptor 5	446			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGTACCCGTAGGAGAAAG	0.403																																						uc021pjl.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1336-1338)Cgg>Tgg		Homo sapiens toll-like receptor 5 (TLR5), mRNA.							82.0	85.0	84.0					1																	223285038		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285038G>A		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1336C>T	1.37:g.223285038G>A	ENSP00000440643:p.Arg446Trp					TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W	p.R446W	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	0	1336	-			446		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1336C>T	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	G	9.850	1.193316	0.22037	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.25250	1.81;1.81;1.81	5.59	3.7	0.42460	.	0.583657	0.18186	N	0.148971	T	0.32376	0.0827	L	0.60455	1.87	0.09310	N	1	D	0.53312	0.959	P	0.46917	0.531	T	0.13683	-1.0500	10	0.87932	D	0	.	12.7812	0.57479	0.0:0.1257:0.7432:0.1311	.	446	O60602	TLR5_HUMAN	W	446	ENSP00000440643:R446W;ENSP00000355846:R446W;ENSP00000340089:R446W	ENSP00000340089:R446W	R	-	1	2	TLR5	221351661	0.077000	0.21312	0.056000	0.19401	0.002000	0.02628	1.137000	0.31479	0.691000	0.31592	-0.156000	0.13503	CGG		0.403	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268	
GCSAML	148823	broad.mit.edu	37	1	247712504	247712504	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:247712504A>T	ENST00000366488.4	+	1	115	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Missense_Mutation_p.Y4F|GCSAML_ENST00000366491.2_Missense_Mutation_p.Y4F|GCSAML_ENST00000366490.3_Missense_Mutation_p.I125F|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000536561.1_Missense_Mutation_p.Y4F	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	4																	ATGGGAAATTATCTCCTGCGA	0.473																																						uc001idf.3																			0		p.N3K(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15						c.(10-12)tAt>tTt		Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.							101.0	93.0	95.0					1																	247712504		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247712504A>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.11A>T	1.37:g.247712504A>T	ENSP00000355444:p.Tyr4Phe					C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	p.Y4F	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		0	158	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		4					B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.11A>T	CCDS1635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.36|12.36	1.913533|1.913533	0.33815|0.33815	.|.	.|.	ENSG00000169224|ENSG00000169224	ENST00000366490|ENST00000366491;ENST00000366489;ENST00000526896;ENST00000366488;ENST00000536561	.|.	.|.	.|.	3.41|3.41	-4.93|-4.93	0.03066|0.03066	.|.	.|.	.|.	.|.	.|.	T|T	0.10594|0.10594	0.0259|0.0259	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|P	.|0.42296	.|0.775	.|B	.|0.35240	.|0.198	T|T	0.26395|0.26395	-1.0104|-1.0104	5|8	.|0.07482	.|T	.|0.82	2.0445|2.0445	6.1802|6.1802	0.20468|0.20468	0.1865:0.4126:0.4009:0.0|0.1865:0.4126:0.4009:0.0	.|.	.|4	.|Q5JQS6	.|CA150_HUMAN	F|F	125|4	.|.	.|ENSP00000355444:Y4F	I|Y	+|+	1|2	0|0	C1orf150|C1orf150	245779127|245779127	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.964000|0.964000	0.63967|0.63967	-1.005000|-1.005000	0.03674|0.03674	-0.953000|-0.953000	0.03645|0.03645	0.482000|0.482000	0.46254|0.46254	ATC|TAT		0.473	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278	
CDH23	64072	broad.mit.edu	37	10	73567464	73567464	+	Missense_Mutation	SNP	G	G	A	rs190672679		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:73567464G>A	ENST00000224721.6	+	58	8520	c.8515G>A	c.(8515-8517)Gtt>Att	p.V2839I	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.V594I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2834	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|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)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGTGCGCGTTGTGCTAGA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		20194	0.001		0.0	False		,,,				2504	0.0					uc001jrx.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(8491-8493)Gtt>Att		Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.							33.0	36.0	35.0					10																	73567464		2174	4261	6435	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73567464G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.8515G>A	10.37:g.73567464G>A	ENSP00000224721:p.Val2839Ile					CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I	p.V2831I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			56	8881	+			2834			Cadherin 26.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.8491G>A		2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.54	1.670018	0.29693	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.64260	-0.09	5.6	4.59	0.56863	Cadherin (3);	0.065111	0.64402	D	0.000015	T	0.29749	0.0743	N	0.03209	-0.39	0.42059	D	0.991153	B;B	0.11235	0.004;0.002	B;B	0.10450	0.005;0.002	T	0.35176	-0.9799	10	0.02654	T	1	.	6.734	0.23399	0.205:0.0:0.795:0.0	.	2834;2834	E9PEX1;Q9H251	.;CAD23_HUMAN	I	2839;2834;2837;594	ENSP00000381768:V594I	ENSP00000224721:V2839I	V	+	1	0	CDH23	73237470	1.000000	0.71417	0.993000	0.49108	0.994000	0.84299	4.752000	0.62176	2.643000	0.89663	0.544000	0.68410	GTT		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836	
MYOF	26509	broad.mit.edu	37	10	95119651	95119651	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:95119651C>T	ENST00000359263.4	-	29	3058	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	MYOF_ENST00000371501.4_Missense_Mutation_p.R1020Q|MYOF_ENST00000371502.4_Missense_Mutation_p.R1020Q|MYOF_ENST00000358334.5_Missense_Mutation_p.R1007Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1020					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCTTCGCCGTCTATGAGT	0.502																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(3058-3060)cGg>cAg		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							202.0	191.0	194.0					10																	95119651		1939	4142	6081	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95119651C>T	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.3059G>A	10.37:g.95119651C>T	ENSP00000352208:p.Arg1020Gln					MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript	p.R1020Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			28	3182	-			1020					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.3059G>A	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	36	5.738268	0.96865	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.88896	-2.42;-2.42;-2.41;-2.44	5.36	5.36	0.76844	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.94925	0.8359	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94274	0.7513	10	0.48119	T	0.1	-18.553	19.2753	0.94029	0.0:1.0:0.0:0.0	.	1007;1020	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1007;1020;1020;1020	ENSP00000351094:R1007Q;ENSP00000352208:R1020Q;ENSP00000360556:R1020Q;ENSP00000360557:R1020Q	ENSP00000351094:R1007Q	R	-	2	0	MYOF	95109641	1.000000	0.71417	0.987000	0.45799	0.992000	0.81027	7.651000	0.83577	2.797000	0.96272	0.561000	0.74099	CGG		0.502	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
OR51V1	283111	broad.mit.edu	37	11	5221570	5221570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:5221570A>T	ENST00000321255.1	-	1	360	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	121					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACAGAGGACTCCATGAAG	0.473																																						uc010qyz.2																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(361-363)Tcc>Acc		Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.							56.0	56.0	56.0					11																	5221570		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221570A>T	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.361T>A	11.37:g.5221570A>T	ENSP00000321729:p.Ser121Thr						p.S121T	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	361	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	121						Missense_Mutation	SNP	ENST00000321255.1	37	c.361T>A	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	A	16.69	3.194320	0.58017	.	.	ENSG00000176742	ENST00000321255	T	0.01335	5.0	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000369	T	0.08582	0.0213	M	0.85859	2.78	0.09310	N	1	D	0.76494	0.999	D	0.91635	0.999	T	0.06935	-1.0799	10	0.87932	D	0	.	9.5218	0.39140	0.8427:0.0:0.0:0.1573	.	121	Q9H2C8	O51V1_HUMAN	T	121	ENSP00000321729:S121T	ENSP00000321729:S121T	S	-	1	0	OR51V1	5178146	0.031000	0.19500	0.673000	0.29887	0.969000	0.65631	1.573000	0.36472	2.210000	0.71456	0.528000	0.53228	TCC		0.473	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760	
OR10A3	26496	broad.mit.edu	37	11	7960995	7960995	+	Missense_Mutation	SNP	C	C	T	rs539222840		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:7960995C>T	ENST00000360759.3	-	1	146	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	25					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCACCTGGAGCTCA	0.413																																						uc010rbi.2																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(73-75)Gtg>Atg		Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.							74.0	76.0	75.0					11																	7960995		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960995C>T	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.73G>A	11.37:g.7960995C>T	ENSP00000353988:p.Val25Met						p.V25M	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	0	73	-			25					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.73G>A	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	2.499	-0.315653	0.05422	.	.	ENSG00000170683	ENST00000360759	T	0.00462	7.26	4.95	4.03	0.46877	.	1.398080	0.05097	U	0.486431	T	0.00440	0.0014	L	0.33624	1.015	0.09310	N	1	B	0.29270	0.24	B	0.32928	0.155	T	0.49437	-0.8940	10	0.34782	T	0.22	.	8.0444	0.30540	0.0:0.8165:0.0:0.1835	.	25	P58181	O10A3_HUMAN	M	25	ENSP00000353988:V25M	ENSP00000353988:V25M	V	-	1	0	OR10A3	7917571	0.000000	0.05858	0.849000	0.33467	0.034000	0.12701	-0.216000	0.09266	1.428000	0.47296	0.650000	0.86243	GTG		0.413	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
INSC	387755	broad.mit.edu	37	11	15198673	15198673	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:15198673T>C	ENST00000379554.3	+	4	606	c.560T>C	c.(559-561)aTg>aCg	p.M187T	INSC_ENST00000424273.1_Missense_Mutation_p.M140T|INSC_ENST00000525218.1_Missense_Mutation_p.M140T|INSC_ENST00000528567.1_Missense_Mutation_p.M140T|INSC_ENST00000530161.1_Missense_Mutation_p.M140T|INSC_ENST00000379556.3_Missense_Mutation_p.M140T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	187					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAGCTGCTAATGGAGAAATGC	0.493																																						uc001mlz.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(418-420)aTg>aCg		Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.							108.0	110.0	109.0					11																	15198673		1850	4098	5948	SO:0001583	missense	387755				cell differentiation|nervous system development	cytoplasm	binding	g.chr11:15198673T>C	AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.560T>C	11.37:g.15198673T>C	ENSP00000368872:p.Met187Thr					INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T	p.M140T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN			3	530	+			187					A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	ENST00000379554.3	37	c.419T>C	CCDS41621.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974212	0.53720	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.34275	1.43;1.46;1.37;1.43;1.46;1.37	5.58	5.58	0.84498	.	0.090248	0.85682	D	0.000000	T	0.36248	0.0960	L	0.47716	1.5	0.45930	D	0.998764	P;P;P;P	0.47762	0.9;0.557;0.763;0.763	B;B;B;B	0.42522	0.39;0.167;0.229;0.229	T	0.27331	-1.0077	10	0.72032	D	0.01	-28.0707	14.5825	0.68302	0.0:0.0:0.0:1.0	.	140;140;140;187	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	T	187;140;140;140;140;140;140	ENSP00000368872:M187T;ENSP00000368874:M140T;ENSP00000389161:M140T;ENSP00000435022:M140T;ENSP00000436194:M140T;ENSP00000436113:M140T	ENSP00000368872:M187T	M	+	2	0	INSC	15155249	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.597000	0.74118	2.124000	0.65301	0.460000	0.39030	ATG		0.493	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386590.1	NM_001031853	
OR1S1	219959	broad.mit.edu	37	11	57982888	57982888	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:57982888T>C	ENST00000309433.6	+	1	672	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	224						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(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTTCCCCTTTACACTCAGCT	0.453																																						uc010rkc.2																			0				breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48						c.(670-672)ttT>ttC		Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.							160.0	126.0	138.0					11																	57982888		2201	4295	6496	SO:0001819	synonymous_variant	219959				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57982888T>C	BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.672T>C	11.37:g.57982888T>C							p.F224F	NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN			0	672	+		Breast(21;0.0589)	224					Q6IFG3	Silent	SNP	ENST00000309433.6	37	c.672T>C	CCDS31546.1																																																																																				0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458	
MMP27	64066	broad.mit.edu	37	11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:102575419G>A	ENST00000260229.4	-	2	281	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	64					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R64W(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	TGCATTTCCCGAATTTTGTCA	0.428																																						uc001phd.1																			1	Substitution - Missense(1)	p.R64W(2)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(190-192)Cgg>Tgg		Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.							91.0	87.0	89.0					11																	102575419		2203	4299	6502	SO:0001583	missense	64066				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102575419G>A	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.190C>T	11.37:g.102575419G>A	ENSP00000260229:p.Arg64Trp						p.R64W	NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	1	213	-	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	64					Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	c.190C>T	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708846	0.48517	.	.	ENSG00000137675	ENST00000260229	T	0.42513	0.97	5.55	5.55	0.83447	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.378222	0.22952	N	0.053647	T	0.68522	0.3010	M	0.89904	3.07	0.36003	D	0.837522	D	0.76494	0.999	P	0.62089	0.898	T	0.79293	-0.1863	10	0.87932	D	0	.	15.3331	0.74229	0.0:0.0:0.8599:0.1401	.	64	Q9H306	MMP27_HUMAN	W	64	ENSP00000260229:R64W	ENSP00000260229:R64W	R	-	1	2	MMP27	102080629	0.048000	0.20356	0.993000	0.49108	0.386000	0.30323	2.100000	0.41777	2.894000	0.99253	0.591000	0.81541	CGG		0.428	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
KDELC2	143888	broad.mit.edu	37	11	108345675	108345675	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:108345675T>A	ENST00000323468.5	-	8	1468	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	KDELC2_ENST00000434945.2_Missense_Mutation_p.Y412F|KDELC2_ENST00000532730.1_5'UTR	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	468						endoplasmic reticulum (GO:0005783)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GCGCTCGGCATATTTCTGAAA	0.507																																						uc001pkj.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						c.(1402-1404)tAt>tTt		Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.							161.0	159.0	160.0					11																	108345675		1976	4158	6134	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108345675T>A	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1403A>T	11.37:g.108345675T>A	ENSP00000315386:p.Tyr468Phe					KDELC2_uc001pki.2_Missense_Mutation_p.Y412F	p.Y468F	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	7	1469	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	468					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.1403A>T	CCDS41711.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.155341	0.78114	.	.	ENSG00000178202	ENST00000323468;ENST00000434945	T;T	0.54071	0.59;0.59	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.72576	2.205	0.80722	D	1	P;D	0.52996	0.91;0.957	P;P	0.53912	0.737;0.723	T	0.68372	-0.5426	10	0.52906	T	0.07	-28.9529	15.0311	0.71708	0.0:0.0:0.0:1.0	.	468;412	Q7Z4H8;Q7Z4H8-2	KDEL2_HUMAN;.	F	468;412	ENSP00000315386:Y468F;ENSP00000413429:Y412F	ENSP00000315386:Y468F	Y	-	2	0	KDELC2	107850885	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.009000	0.76347	2.186000	0.69663	0.533000	0.62120	TAT		0.507	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705	
CLEC7A	64581	broad.mit.edu	37	12	10277922	10277922	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10277922G>C	ENST00000304084.8	-	4	620	c.466C>G	c.(466-468)Cta>Gta	p.L156V	CLEC7A_ENST00000298523.5_Missense_Mutation_p.L110V|CLEC7A_ENST00000533022.1_Missense_Mutation_p.L156V|CLEC7A_ENST00000353231.5_Missense_Mutation_p.L110V|CLEC7A_ENST00000396484.2_Missense_Mutation_p.L77V	NM_197947.2	NP_922938.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	156	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				carbohydrate mediated signaling (GO:0009756)|cell recognition (GO:0008037)|defense response to protozoan (GO:0042832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|MHC protein binding (GO:0042287)|signaling pattern recognition receptor activity (GO:0008329)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTATCTTTAGGAGATTAGAG	0.383																																						uc001qxg.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						c.(466-468)Cta>Gta		Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.							114.0	111.0	112.0					12																	10277922		2203	4300	6503	SO:0001583	missense	64581				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding	g.chr12:10277922G>C	AY009090	CCDS8613.1, CCDS8614.1, CCDS8617.1, CCDS41753.1, CCDS41754.1, CCDS53744.1	12p13.2-p12.3	2014-09-17		2005-02-09	ENSG00000172243	ENSG00000172243		"""C-type lectin domain containing"""	14558	protein-coding gene	gene with protein product		606264	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 12"""	CLECSF12			Standard	XM_005253468		Approved	dectin-1, hDectin-1	uc001qxg.2	Q9BXN2	OTTHUMG00000133597	ENST00000304084.8:c.466C>G	12.37:g.10277922G>C	ENSP00000302569:p.Leu156Val					CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V	p.L156V	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN			3	653	-			156			C-type lectin.		B2R861|B7Z494|B7Z5A9|B7Z5B9|Q6IPS7|Q96D32|Q96DR9|Q96LD3|Q96PA4|Q96PA5|Q96PA6|Q96PA7|Q96PA8|Q9H1K3	Missense_Mutation	SNP	ENST00000304084.8	37	c.466C>G	CCDS41753.1	.	.	.	.	.	.	.	.	.	.	G	4.621	0.115351	0.08831	.	.	ENSG00000172243	ENST00000353231;ENST00000298523;ENST00000396484;ENST00000304084;ENST00000533022	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	4.68	1.82	0.25136	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.197467	0.25324	N	0.031495	T	0.19604	0.0471	L	0.49778	1.585	0.58432	D	0.999999	P;P;P;P;B;B;B	0.40970	0.734;0.52;0.628;0.52;0.139;0.167;0.221	P;B;B;B;B;B;B	0.47044	0.535;0.275;0.257;0.275;0.134;0.13;0.08	T	0.01791	-1.1273	10	0.51188	T	0.08	.	5.9329	0.19148	0.0807:0.1331:0.6474:0.1389	.	110;156;77;156;110;156;110	Q9BXN2-6;Q9BXN2-4;Q9BXN2-5;Q9BXN2-3;Q9BXN2-7;Q9BXN2;Q9BXN2-2	.;.;.;.;.;CLC7A_HUMAN;.	V	110;110;77;156;156	ENSP00000266456:L110V;ENSP00000298523:L110V;ENSP00000379743:L77V;ENSP00000302569:L156V;ENSP00000431461:L156V	ENSP00000298523:L110V	L	-	1	2	CLEC7A	10169189	0.913000	0.31002	0.740000	0.30986	0.042000	0.13812	0.793000	0.26944	0.142000	0.18901	-0.824000	0.03097	CTA		0.383	CLEC7A-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390772.1	NM_197954	
KLRC3	3823	broad.mit.edu	37	12	10587963	10587963	+	Silent	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10587963G>T	ENST00000539033.1	-	2	248	c.234C>A	c.(232-234)atC>atA	p.I78I	KLRC2_ENST00000536833.2_Silent_p.I19I|KLRC2_ENST00000381902.2_Silent_p.I78I|KLRC2_ENST00000381901.1_Silent_p.I78I																							CAATGCAAATGATTCCTAGGA	0.428																																						uc001qyh.3																			0				kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(232-234)atC>atA		Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.							169.0	190.0	183.0					12																	10587963		2202	4298	6500	SO:0001819	synonymous_variant	3823				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10587963G>T																												ENST00000539033.1:c.234C>A	12.37:g.10587963G>T						KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I	p.I78I	NM_002261	NP_002252	P26717	NKG2C_HUMAN			1	241	-			78						Silent	SNP	ENST00000539033.1	37	c.234C>A																																																																																					0.428	NKG2-E-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000400274.1		
HDAC7	51564	broad.mit.edu	37	12	48181754	48181754	+	Intron	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:48181754G>A	ENST00000427332.2	-	20	2395				HDAC7_ENST00000354334.3_Intron|HDAC7_ENST00000552960.1_Intron|HDAC7_ENST00000380610.4_Intron|HDAC7_ENST00000488927.1_5'Flank|HDAC7_ENST00000080059.7_Intron			Q8WUI4	HDAC7_HUMAN	histone deacetylase 7						cell-cell junction assembly (GO:0007043)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		cacacagctcgtcatgacaga	0.572																																						uc010slo.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25								Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.																																				SO:0001627	intron_variant	51564				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr12:48181754G>A	AF239243	CCDS8756.2, CCDS41776.1	12q13.1	2008-02-25	2008-02-25	2008-02-25	ENSG00000061273	ENSG00000061273			14067	protein-coding gene	gene with protein product		606542	"""histone deacetylase 7A"""	HDAC7A		10922406, 10640276	Standard	NM_015401		Approved	DKFZP586J0917	uc010slo.2	Q8WUI4	OTTHUMG00000152968	ENST00000427332.2:c.2238+73C>T	12.37:g.48181754G>A						HDAC7_uc001rqe.3_Intron|HDAC7_uc001rqj.4_Intron|HDAC7_uc001rqk.4_Intron|HDAC7_uc010slp.2_5'UTR		NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN		GBM - Glioblastoma multiforme(48;0.137)			-								B3KY08|B4DWI0|B4E0Q5|Q6P1W9|Q6W9G7|Q7Z4K2|Q7Z5I1|Q96K01|Q9BR73|Q9H7L0|Q9NW41|Q9NWA9|Q9NYK9|Q9UFU7	Translation_Start_Site	SNP	ENST00000427332.2	37																																																																																						0.572	HDAC7-013	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328804.2		
CYP27B1	1594	broad.mit.edu	37	12	58162873	58162873	+	5'Flank	SNP	C	C	T	rs140194153	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:58162873C>T	ENST00000228606.4	-	0	0				CYP27B1_ENST00000546496.1_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000257848.7_3'UTR|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.R246H	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1						bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CCCTCCATTACGTAGAACTTT	0.532																																						uc010ssd.2																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(736-738)cGt>cAt		Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.		C	HIS/ARG,	0,4406		0,0,2203	95.0	91.0	92.0		737,	6.0	1.0	12	dbSNP_134	92	2,8598	2.2+/-6.3	0,2,4298	no	missense,utr-3	METTL1	NM_005371.5,NM_023033.3	29,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,	246/277,	58162873	2,13004	2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58162873C>T	AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457		12.37:g.58162873C>T	Exception_encountered					CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	p.R246H	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		5	785	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		246					B2RC61|Q548T3	Missense_Mutation	SNP	ENST00000228606.4	37	c.737G>A	CCDS8954.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206809	0.95033	0.0	2.33E-4	ENSG00000037897	ENST00000324871	T	0.46063	0.88	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83852	0.0263	10	0.87932	D	0	-18.5649	19.2203	0.93793	0.0:1.0:0.0:0.0	.	246	Q9UBP6	TRMB_HUMAN	H	246	ENSP00000314441:R246H	ENSP00000314441:R246H	R	-	2	0	METTL1	56449140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.189000	0.72051	2.843000	0.97960	0.655000	0.94253	CGT		0.532	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1	NM_000785	
LRRIQ1	84125	broad.mit.edu	37	12	85459186	85459186	+	Silent	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:85459186T>C	ENST00000393217.2	+	9	2599	c.2538T>C	c.(2536-2538)gaT>gaC	p.D846D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	846										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTACATTGATGCACAGGTAT	0.333																																						uc001tac.3																			0		p.D846N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(2536-2538)gaT>gaC		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							108.0	102.0	104.0					12																	85459186		2203	4299	6502	SO:0001819	synonymous_variant	84125							g.chr12:85459186T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2538T>C	12.37:g.85459186T>C						LRRIQ1_uc021rbo.1_Silent_p.D724D	p.D846D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	8	2649	+			846					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.2538T>C	CCDS41816.1																																																																																				0.333	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
KIAA1033	23325	broad.mit.edu	37	12	105519878	105519878	+	Missense_Mutation	SNP	A	A	G	rs372217243		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:105519878A>G	ENST00000332180.5	+	11	970	c.883A>G	c.(883-885)Att>Gtt	p.I295V		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTCGGTCAATTTTTGCAAA	0.308																																						uc010swr.2																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(883-885)Att>Gtt		Homo sapiens KIAA1033 (KIAA1033), mRNA.		A	VAL/ILE	1,3631		0,1,1815	109.0	98.0	101.0		883	4.4	1.0	12		101	0,8154		0,0,4077	no	missense	KIAA1033	NM_015275.1	29	0,1,5892	GG,GA,AA		0.0,0.0275,0.0085	benign	295/1174	105519878	1,11785	1816	4077	5893	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105519878A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.883A>G	12.37:g.105519878A>G	ENSP00000328062:p.Ile295Val					KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V	p.I295V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			10	970	+			295						Missense_Mutation	SNP	ENST00000332180.5	37	c.883A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.319846	0.23994	2.75E-4	0.0	ENSG00000136051	ENST00000332180	T	0.30714	1.52	5.56	4.42	0.53409	.	0.187636	0.53938	N	0.000046	T	0.29716	0.0742	M	0.69823	2.125	0.47659	D	0.999484	B;B	0.12630	0.006;0.006	B;B	0.13407	0.009;0.009	T	0.07947	-1.0746	10	0.15952	T	0.53	.	9.1279	0.36828	0.8406:0.0:0.1594:0.0	.	295;295	B7ZKT9;Q2M389	.;WASH7_HUMAN	V	295	ENSP00000328062:I295V	ENSP00000328062:I295V	I	+	1	0	KIAA1033	104044008	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.555000	0.60767	0.942000	0.37525	-0.385000	0.06624	ATT		0.308	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
DYNC1H1	1778	broad.mit.edu	37	14	102514280	102514280	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr14:102514280G>A	ENST00000360184.4	+	73	13297	c.13133G>A	c.(13132-13134)cGg>cAg	p.R4378Q	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4378					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTGGATGCGGACACTGCAC	0.612																																						uc001yks.2																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(13132-13134)cGg>cAg		Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.							125.0	78.0	94.0					14																	102514280		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102514280G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13133G>A	14.37:g.102514280G>A	ENSP00000348965:p.Arg4378Gln						p.R4378Q	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			72	13297	+			4378					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13133G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252674	0.80135	.	.	ENSG00000197102	ENST00000360184	T	0.08546	3.08	5.37	5.37	0.77165	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.19366	0.0465	L	0.61036	1.89	0.58432	D	0.999999	D	0.58268	0.982	P	0.51016	0.656	T	0.00405	-1.1760	10	0.39692	T	0.17	.	19.1067	0.93299	0.0:0.0:1.0:0.0	.	4378	Q14204	DYHC1_HUMAN	Q	4378	ENSP00000348965:R4378Q	ENSP00000348965:R4378Q	R	+	2	0	DYNC1H1	101584033	1.000000	0.71417	0.514000	0.27761	0.929000	0.56500	7.959000	0.87885	2.509000	0.84616	0.655000	0.94253	CGG		0.612	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376	
NRG4	145957	broad.mit.edu	37	15	76301577	76301577	+	Missense_Mutation	SNP	C	C	A	rs201119503		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr15:76301577C>A	ENST00000394907.3	-	3	249	c.68G>T	c.(67-69)tGt>tTt	p.C23F	NRG4_ENST00000535975.1_Missense_Mutation_p.C23F|NRG4_ENST00000305435.10_Missense_Mutation_p.C23F	NM_138573.3	NP_612640.1	Q8WWG1	NRG4_HUMAN	neuregulin 4	23	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TATCACATAACAAAGCCCCCC	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		15893	0.0		0.001	False		,,,				2504	0.0					uc002bbo.3																			0				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						c.(67-69)tGt>tTt		Homo sapiens neuregulin 4 (NRG4), mRNA.							91.0	94.0	93.0					15																	76301577		2197	4294	6491	SO:0001583	missense	145957					extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr15:76301577C>A	BC017568	CCDS10288.1	15q23	2005-10-30			ENSG00000169752	ENSG00000169752			29862	protein-coding gene	gene with protein product		610894				12477932	Standard	NM_138573		Approved	HRG4	uc002bbo.3	Q8WWG1	OTTHUMG00000142917	ENST00000394907.3:c.68G>T	15.37:g.76301577C>A	ENSP00000378367:p.Cys23Phe					NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	p.C23F	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN			2	250	-			23			EGF-like.		A6NIE8	Missense_Mutation	SNP	ENST00000394907.3	37	c.68G>T	CCDS10288.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.4	3.985260	0.74474	.	.	ENSG00000169752	ENST00000394907;ENST00000535975;ENST00000305435	D;D	0.88046	-2.33;-2.33	5.37	5.37	0.77165	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.799345	0.09908	U	0.740151	D	0.96153	0.8746	H	0.96239	3.79	0.51233	D	0.999918	D	0.76494	0.999	D	0.83275	0.996	D	0.95026	0.8165	10	0.87932	D	0	-10.782	16.6153	0.84909	0.0:1.0:0.0:0.0	.	23	Q8WWG1	NRG4_HUMAN	F	23	ENSP00000378367:C23F;ENSP00000441129:C23F	ENSP00000303071:C23F	C	-	2	0	NRG4	74088632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.271000	0.58902	2.494000	0.84150	0.650000	0.86243	TGT		0.388	NRG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286632.1	NM_138573	
SRRM2	23524	broad.mit.edu	37	16	2812703	2812703	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:2812703G>A	ENST00000301740.8	+	11	2723	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	725	Arg-rich.|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						GGCAGATCTGGCTCATCTTCA	0.463																																						uc002crk.3																			0		p.S724fs*27(1)		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.(2173-2175)gGc>gAc		Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.							74.0	78.0	77.0					16																	2812703		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.chr16:2812703G>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.2174G>A	16.37:g.2812703G>A	ENSP00000301740:p.Gly725Asp					SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D	p.G725D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			10	2723	+			725			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2174G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	7.734	0.699884	0.15106	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.24151	1.87	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000014	T	0.36193	0.0958	N	0.14661	0.345	0.38931	D	0.95794	D	0.89917	1.0	D	0.87578	0.998	T	0.39761	-0.9598	10	0.72032	D	0.01	-11.9364	17.2499	0.87039	0.0:0.0:1.0:0.0	.	725	Q9UQ35	SRRM2_HUMAN	D	725;725;690	ENSP00000301740:G725D	ENSP00000301740:G725D	G	+	2	0	SRRM2	2752704	0.991000	0.36638	1.000000	0.80357	0.886000	0.51366	1.675000	0.37555	2.677000	0.91161	0.462000	0.41574	GGC		0.463	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1		
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						uc002edh.1																			0											c.(262-264)aaA>aaC		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_Non-coding_Transcript	p.K88N							4	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2		
CHD9	80205	broad.mit.edu	37	16	53276816	53276816	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:53276816G>T	ENST00000398510.3	+	12	3029	c.2942G>T	c.(2941-2943)gGa>gTa	p.G981V	CHD9_ENST00000447540.1_Missense_Mutation_p.G981V|CHD9_ENST00000564845.1_Missense_Mutation_p.G981V|CHD9_ENST00000566029.1_Missense_Mutation_p.G981V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	981	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATTCTTGGAGGCTGTGGA	0.363																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(2941-2943)gGa>gTa		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							162.0	158.0	159.0					16																	53276816		1875	4116	5991	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53276816G>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2942G>T	16.37:g.53276816G>T	ENSP00000381522:p.Gly981Val					CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V	p.G981V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			11	3106	+		all_cancers(37;0.0212)	981			Helicase ATP-binding.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.2942G>T		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146968	0.57151	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.92805	-3.11;-3.11	5.3	5.3	0.74995	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000041	D	0.91958	0.7453	N	0.10837	0.055	0.80722	D	1	B;P;D;D	0.76494	0.221;0.841;0.999;0.999	B;P;D;D	0.72982	0.309;0.62;0.979;0.964	D	0.93826	0.7123	10	0.66056	D	0.02	-17.0995	19.336	0.94319	0.0:0.0:1.0:0.0	.	507;981;981;981	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	V	981;981;507	ENSP00000396345:G981V;ENSP00000381522:G981V	ENSP00000219084:G507V	G	+	2	0	CHD9	51834317	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.450000	0.80656	2.643000	0.89663	0.655000	0.94253	GGA		0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CDYL2	124359	broad.mit.edu	37	16	80718602	80718602	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:80718602T>C	ENST00000570137.2	-	2	604	c.449A>G	c.(448-450)aAa>aGa	p.K150R	CDYL2_ENST00000566173.1_Missense_Mutation_p.K150R|CDYL2_ENST00000562812.1_Missense_Mutation_p.K150R|CDYL2_ENST00000563890.1_Missense_Mutation_p.K150R|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	150						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGAGACTTTTTCAGGGGCAT	0.512																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(448-450)aAa>aGa		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.							94.0	100.0	98.0					16																	80718602		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718602T>C	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.449A>G	16.37:g.80718602T>C	ENSP00000476295:p.Lys150Arg						p.K150R	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			1	554	-			150					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.449A>G	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.138310	0.37728	.	.	ENSG00000166446	ENST00000299564	T	0.56275	0.47	5.14	5.14	0.70334	.	0.176524	0.47455	D	0.000232	T	0.38957	0.1060	N	0.14661	0.345	0.37715	D	0.9247	P	0.43352	0.804	B	0.41860	0.368	T	0.48139	-0.9061	10	0.42905	T	0.14	.	14.3011	0.66352	0.0:0.0:0.0:1.0	.	150	Q8N8U2	CDYL2_HUMAN	R	150	ENSP00000299564:K150R	ENSP00000299564:K150R	K	-	2	0	CDYL2	79276103	1.000000	0.71417	0.998000	0.56505	0.582000	0.36321	2.634000	0.46528	2.154000	0.67381	0.482000	0.46254	AAA		0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
MAP2K3	5606	broad.mit.edu	37	17	21205510	21205510	+	Missense_Mutation	SNP	G	G	A	rs148304866		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:21205510G>A	ENST00000342679.4	+	6	704	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R123Q|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R123Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGTTCTACCGGAAGGTGCTG	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15707	0.0		0.0	False		,,,				2504	0.0					uc002gys.3																			0											c.(454-456)cGg>cAg		Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	105.0	114.0		368,455	4.1	1.0	17	dbSNP_134	114	0,8600		0,0,4300	no	missense,missense	MAP2K3	NM_002756.4,NM_145109.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	123/319,152/348	21205510	1,13005	2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21205510G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.455G>A	17.37:g.21205510G>A	ENSP00000345083:p.Arg152Gln					MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q	p.R152Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	720	+			152			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.455G>A	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078363	0.55753	2.27E-4	0.0	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.64618	-0.11;-0.11	5.17	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171626	0.34435	N	0.003962	T	0.42832	0.1220	N	0.25380	0.74	0.45035	D	0.998051	B	0.13594	0.008	B	0.09377	0.004	T	0.47886	-0.9082	10	0.62326	D	0.03	-30.5029	3.3205	0.07048	0.386:0.0:0.614:0.0	.	152	P46734	MP2K3_HUMAN	Q	152;123;123;156	ENSP00000345083:R152Q;ENSP00000355081:R123Q	ENSP00000319139:R156Q	R	+	2	0	MAP2K3	21146103	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.569000	0.82380	2.396000	0.81511	0.655000	0.94253	CGG		0.592	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109	
NOS2	4843	broad.mit.edu	37	17	26094858	26094858	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:26094858G>A	ENST00000313735.6	-	18	2273	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	680					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	ACGTCTCACAGGCTGCCTGGA	0.572																																						uc002gzu.3																			0		p.A679S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2038-2040)gcC>gcT		Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						61.0	55.0	57.0					17																	26094858		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26094858G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2040C>T	17.37:g.26094858G>A						NOS2_uc010wab.1_Silent_p.A645A	p.A680A	NM_000625	NP_000616	P35228	NOS2_HUMAN			17	2304	-			680					A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.2040C>T	CCDS11223.1																																																																																				0.572	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
EVI2B	2124	broad.mit.edu	37	17	29632208	29632208	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632208C>A	ENST00000330927.4	-	2	574	c.420G>T	c.(418-420)aaG>aaT	p.K140N	EVI2B_ENST00000544462.1_Missense_Mutation_p.K155N|EVI2B_ENST00000577894.1_Missense_Mutation_p.K140N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	140						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGACAAATGACTTTGGTGGTT	0.438																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(463-465)aaG>aaT		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							419.0	348.0	372.0					17																	29632208		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632208C>A		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.420G>T	17.37:g.29632208C>A	ENSP00000333779:p.Lys140Asn					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N	p.K155N	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	648	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	140					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.465G>T	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	C	2.194	-0.384486	0.04966	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.50001	0.76;0.76	3.48	1.23	0.21249	.	.	.	.	.	T	0.29684	0.0741	N	0.19112	0.55	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.11329	0.006;0.006	T	0.18840	-1.0324	9	0.41790	T	0.15	0.3875	6.9128	0.24344	0.0:0.1336:0.0:0.8664	.	155;140	B7Z4A7;P34910	.;EVI2B_HUMAN	N	140;155	ENSP00000333779:K140N;ENSP00000439738:K155N	ENSP00000333779:K140N	K	-	3	2	EVI2B	26656334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.188000	0.17018	0.027000	0.15297	-1.191000	0.01696	AAG		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
EVI2B	2124	broad.mit.edu	37	17	29632210	29632210	+	Missense_Mutation	SNP	T	T	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632210T>G	ENST00000330927.4	-	2	572	c.418A>C	c.(418-420)Aag>Cag	p.K140Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.K155Q|EVI2B_ENST00000577894.1_Missense_Mutation_p.K140Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	140						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ACAAATGACTTTGGTGGTTGT	0.438																																						uc010csq.2																			11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(463-465)Aag>Cag		Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.							416.0	345.0	369.0					17																	29632210		2203	4300	6503	SO:0001583	missense	2124					cytoplasm|integral to plasma membrane		g.chr17:29632210T>G		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.418A>C	17.37:g.29632210T>G	ENSP00000333779:p.Lys140Gln					NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q	p.K155Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	646	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	140					B7Z4A7	Missense_Mutation	SNP	ENST00000330927.4	37	c.463A>C	CCDS11266.1	.	.	.	.	.	.	.	.	.	.	T	6.511	0.462575	0.12342	.	.	ENSG00000185862	ENST00000330927;ENST00000544462	T;T	0.47528	0.84;0.84	4.88	-7.61	0.01299	.	.	.	.	.	T	0.25865	0.0630	N	0.19112	0.55	0.09310	N	1	B;B	0.22683	0.073;0.073	B;B	0.15052	0.012;0.012	T	0.22277	-1.0221	9	0.36615	T	0.2	0.3875	9.1362	0.36875	0.0:0.4513:0.279:0.2697	.	155;140	B7Z4A7;P34910	.;EVI2B_HUMAN	Q	140;155	ENSP00000333779:K140Q;ENSP00000439738:K155Q	ENSP00000333779:K140Q	K	-	1	0	EVI2B	26656336	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.214000	0.09292	-1.065000	0.03168	-0.375000	0.07067	AAG		0.438	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	NM_006495	
PEX12	5193	broad.mit.edu	37	17	33904178	33904178	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:33904178G>A	ENST00000225873.4	-	2	1166	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	187					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGATGCTGAGCTTTTCCT	0.493																																						uc002hjp.3																			0		p.Q187Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18						c.(559-561)Cag>Tag		Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.							101.0	94.0	96.0					17																	33904178		2203	4300	6503	SO:0001587	stop_gained	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904178G>A	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.559C>T	17.37:g.33904178G>A	ENSP00000225873:p.Gln187*						p.Q187*	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	1	1175	-			187					B2R6M2	Nonsense_Mutation	SNP	ENST00000225873.4	37	c.559C>T	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	40	8.235656	0.98719	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	.	.	.	5.63	2.3	0.28687	.	0.295004	0.37483	N	0.002072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.274	12.2751	0.54730	0.0:0.4664:0.4174:0.1162	.	.	.	.	X	187	.	ENSP00000225873:Q187X	Q	-	1	0	PEX12	30928291	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.099000	0.31013	0.697000	0.31718	0.650000	0.86243	CAG		0.493	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286	
TEX14	56155	broad.mit.edu	37	17	56699012	56699012	+	Splice_Site	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:56699012C>A	ENST00000240361.8	-	5	638	c.553G>T	c.(553-555)Gga>Tga	p.G185*	TEX14_ENST00000389934.3_Splice_Site_p.G185*|TEX14_ENST00000349033.5_Splice_Site_p.G185*			Q8IWB6	TEX14_HUMAN	testis expressed 14	185					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTCACCCCTGCACGAGG	0.612																																						uc010dcz.2																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.e5+1		Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.							56.0	51.0	53.0					17																	56699012		2203	4300	6503	SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699012C>A	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.554+1G>T	17.37:g.56699012C>A						TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site	p.G185_splice	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN			5	672	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		185					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Nonsense_Mutation	SNP	ENST00000240361.8	37	c.554_splice	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599439	0.66332	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	.	.	.	5.42	4.46	0.54185	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-11.8765	11.751	0.51849	0.0:0.917:0.0:0.083	.	.	.	.	X	185	.	ENSP00000240361:G185X	G	-	1	0	TEX14	54054011	1.000000	0.71417	1.000000	0.80357	0.233000	0.25261	2.877000	0.48506	1.426000	0.47256	-0.244000	0.11960	GGA		0.612	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1		Nonsense_Mutation
TIMM44	10469	broad.mit.edu	37	19	7998999	7998999	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:7998999G>T	ENST00000270538.3	-	5	786	c.518C>A	c.(517-519)aCa>aAa	p.T173K	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	173					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAAGGCCGCTGTCCTGCCCAG	0.677																																						uc002miz.3																			0				NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						c.(517-519)aCa>aAa		Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.							76.0	83.0	81.0					19																	7998999		2203	4300	6503	SO:0001583	missense	10469				protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr19:7998999G>T	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.518C>A	19.37:g.7998999G>T	ENSP00000270538:p.Thr173Lys					TIMM44_uc010dvx.2_Non-coding_Transcript	p.T173K	NM_006351	NP_006342	O43615	TIM44_HUMAN			4	690	-			173					A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	c.518C>A	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369588	0.42003	.	.	ENSG00000104980	ENST00000270538	D	0.85773	-2.03	5.38	3.21	0.36854	.	0.088762	0.85682	D	0.000000	D	0.90003	0.6879	M	0.83223	2.63	0.80722	D	1	D	0.62365	0.991	P	0.59115	0.852	D	0.89347	0.3658	10	0.87932	D	0	-21.702	9.1992	0.37246	0.0815:0.1464:0.7721:0.0	.	173	O43615	TIM44_HUMAN	K	173	ENSP00000270538:T173K	ENSP00000270538:T173K	T	-	2	0	TIMM44	7904999	1.000000	0.71417	0.006000	0.13384	0.023000	0.10783	5.024000	0.64090	0.626000	0.30322	-0.224000	0.12420	ACA		0.677	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461596.3		
SLC44A2	57153	broad.mit.edu	37	19	10748353	10748353	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:10748353C>T	ENST00000335757.5	+	17	2001	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	SLC44A2_ENST00000407327.4_Missense_Mutation_p.T540I|SLC44A2_ENST00000588214.1_3'UTR|SLC44A2_ENST00000586078.1_Missense_Mutation_p.T542I			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	542					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCCTCATGACCTGTCTCAAA	0.527																																						uc002mpf.3																			0				NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1624-1626)aCc>aTc		Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	Choline(DB00122)						177.0	146.0	156.0					19																	10748353		2203	4300	6503	SO:0001583	missense	57153				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	g.chr19:10748353C>T	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.1625C>T	19.37:g.10748353C>T	ENSP00000336888:p.Thr542Ile					SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank	p.T542I	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		16	1764	+			542					B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	ENST00000335757.5	37	c.1625C>T	CCDS12245.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.362563	0.41902	.	.	ENSG00000129353	ENST00000407327;ENST00000335757;ENST00000380614	T;T	0.21734	1.99;1.99	5.25	3.09	0.35607	.	0.318910	0.35466	N	0.003193	T	0.14056	0.0340	L	0.29908	0.895	0.27705	N	0.94565	B;B;B	0.12630	0.005;0.006;0.003	B;B;B	0.21917	0.037;0.021;0.021	T	0.15723	-1.0427	10	0.52906	T	0.07	-14.003	5.4947	0.16795	0.0:0.5083:0.3164:0.1753	.	542;542;540	Q8IWA5-2;Q8IWA5;Q8IWA5-3	.;CTL2_HUMAN;.	I	540;542;542	ENSP00000385135:T540I;ENSP00000336888:T542I	ENSP00000336888:T542I	T	+	2	0	SLC44A2	10609353	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	1.413000	0.34725	0.580000	0.29522	0.561000	0.74099	ACC		0.527	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452045.1		
ZNF709	163051	broad.mit.edu	37	19	12575471	12575471	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:12575471C>T	ENST00000397732.3	-	4	1436	c.1265G>A	c.(1264-1266)tGt>tAt	p.C422Y	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.C422Y	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTGTTTACATTCATGGGG	0.408																																					GBM(33;565 669 12371 29134 51667)	uc002mtv.4																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1264-1266)tGt>tAt		Homo sapiens zinc finger protein 709 (ZNF709), mRNA.							105.0	110.0	109.0					19																	12575471		2203	4300	6503	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575471C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1265G>A	19.37:g.12575471C>T	ENSP00000380840:p.Cys422Tyr					ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y	p.C422Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN			3	1426	-			422					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1265G>A	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.738693	0.69304	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	D;D	0.85088	-1.94;-1.94	3.05	3.05	0.35203	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36854	N	0.002380	D	0.94095	0.8107	H	0.95745	3.715	0.46336	D	0.998996	D	0.89917	1.0	D	0.97110	1.0	D	0.95557	0.8626	10	0.87932	D	0	.	13.9868	0.64341	0.0:1.0:0.0:0.0	.	422	Q8N972	ZN709_HUMAN	Y	422	ENSP00000380840:C422Y;ENSP00000404127:C422Y	ENSP00000404127:C422Y	C	-	2	0	ZNF709;CTD-2192J16.17	12436471	1.000000	0.71417	0.044000	0.18714	0.976000	0.68499	6.372000	0.73123	2.032000	0.59987	0.591000	0.81541	TGT		0.408	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601	
ZNF570	148268	broad.mit.edu	37	19	37975633	37975633	+	Missense_Mutation	SNP	G	G	A	rs146360083		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:37975633G>A	ENST00000330173.1	+	5	1638	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	ZNF570_ENST00000388801.3_Missense_Mutation_p.R167H|ZNF570_ENST00000586475.1_Missense_Mutation_p.R426H	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCTTCGTGCATACCTT	0.423																																						uc010efl.1																			0				endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27						c.(1276-1278)cGt>cAt		Homo sapiens zinc finger protein 570 (ZNF570), mRNA.							88.0	84.0	85.0					19																	37975633		2203	4300	6503	SO:0001583	missense	148268				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37975633G>A	AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.1109G>A	19.37:g.37975633G>A	ENSP00000331540:p.Arg370His					ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H	p.R426H	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1396	+			370					A1L472|B4DMP1	Missense_Mutation	SNP	ENST00000330173.1	37	c.1277G>A	CCDS12504.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.194731	0.38806	.	.	ENSG00000171827	ENST00000330173;ENST00000388801	T;T	0.08370	3.1;3.1	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.603269	0.13446	N	0.387245	T	0.16300	0.0392	L	0.48642	1.525	0.22468	N	0.999073	B;D	0.89917	0.008;1.0	B;D	0.64687	0.002;0.928	T	0.07849	-1.0751	10	0.10377	T	0.69	.	10.1378	0.42717	0.099:0.0:0.901:0.0	.	167;370	B4DMP1;Q96NI8	.;ZN570_HUMAN	H	370;167	ENSP00000331540:R370H;ENSP00000373453:R167H	ENSP00000331540:R370H	R	+	2	0	ZNF570	42667473	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.256000	0.18351	2.317000	0.78254	0.563000	0.77884	CGT		0.423	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109600.1	NM_144694	
ARHGAP35	2909	broad.mit.edu	37	19	47422855	47422855	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:47422855A>G	ENST00000404338.3	+	1	923	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	308	FF 1.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										TACCAGGACTATGTCTACCTG	0.502																																						uc010ekv.3																			0											c.(922-924)tAt>tGt		Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.							31.0	32.0	32.0					19																	47422855		1980	4165	6145	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422855A>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.923A>G	19.37:g.47422855A>G	ENSP00000385720:p.Tyr308Cys						p.Y308C	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN			0	923	+			308			FF 1.		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.923A>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230887	0.58777	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.12465	2.68	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.02173	-1.1201	10	0.87932	D	0	-25.9735	15.4607	0.75353	1.0:0.0:0.0:0.0	.	308	Q9NRY4-2	.	C	308	ENSP00000385720:Y308C	ENSP00000324820:Y308C	Y	+	2	0	ARHGAP35	52114695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.327000	0.79147	2.288000	0.76882	0.528000	0.53228	TAT		0.502	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491	
LILRA5	353514	broad.mit.edu	37	19	54823844	54823844	+	Silent	SNP	G	G	A	rs143927346	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:54823844G>A	ENST00000301219.3	-	2	170	c.51C>T	c.(49-51)gaC>gaT	p.D17D	LILRA5_ENST00000432233.3_Silent_p.D17D|LILRA5_ENST00000346508.3_Silent_p.D17D|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Silent_p.D17D	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	17					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCACGGCGTCTCCTCCCA	0.632													G|||	4	0.000798722	0.0008	0.0	5008	,	,		17131	0.0		0.003	False		,,,				2504	0.0					uc002qfe.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(49-51)gaC>gaT		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.		G	,,,	3,4403	6.2+/-15.9	0,3,2200	51.0	40.0	44.0		51,51,51,51	-5.5	0.0	19	dbSNP_134	44	25,8575	17.3+/-56.4	0,25,4275	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRA5	NM_021250.2,NM_181879.2,NM_181985.2,NM_181986.2	,,,	0,28,6475	AA,AG,GG		0.2907,0.0681,0.2153	,,,	17/300,17/266,17/288,17/254	54823844	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54823844G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.51C>T	19.37:g.54823844G>A						LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D	p.D17D	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	1	171	-	Ovarian(34;0.19)		17					A6NHI3	Silent	SNP	ENST00000301219.3	37	c.51C>T	CCDS12888.1																																																																																				0.632	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985	
EPAS1	2034	broad.mit.edu	37	2	46609718	46609718	+	Silent	SNP	G	G	A	rs4953362	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:46609718G>A	ENST00000263734.3	+	15	2952	c.2442G>A	c.(2440-2442)tcG>tcA	p.S814S		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	814					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCTGTCGTCAGCCCACA	0.607													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19036	0.0		0.0	False		,,,				2504	0.0					uc002ruv.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2440-2442)tcG>tcA		Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.		G		7,4399	12.9+/-30.5	0,7,2196	63.0	59.0	60.0		2442	-11.3	0.0	2	dbSNP_111	60	0,8600		0,0,4300	no	coding-synonymous	EPAS1	NM_001430.4		0,7,6496	AA,AG,GG		0.0,0.1589,0.0538		814/871	46609718	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46609718G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2442G>A	2.37:g.46609718G>A						EPAS1_uc002ruw.3_Silent_p.S280S	p.S814S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		14	2952	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	814					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.2442G>A	CCDS1825.1																																																																																				0.607	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_Non-coding_Transcript	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			49	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		
DARS	1615	broad.mit.edu	37	2	136682064	136682074	+	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:136682064_136682074delGATGTCTAGAA	ENST00000264161.4	-	8	780_784	c.565_569delTTCTAGACATC	c.(565-570)ttctag>g	p.F*189fs	DARS_ENST00000537273.1_Splice_Site_p.F*89fs	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	189					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTGACTAGTTGATGTCTAGAAGACAGTAATA	0.374																																						uc002tux.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.e8-1		Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	L-Aspartic Acid(DB00128)																																			SO:0001630	splice_region_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136682064_136682074delGATGTCTAGAA	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.565-1TTCTAGACATC>-	2.37:g.136682064_136682074delGATGTCTAGAA						DARS_uc010fnj.1_Splice_Site_p.T89_splice	p.T189_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	8	749	-			189					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Splice_Site	DEL	ENST00000264161.4	37	c.565_splice	CCDS2180.1																																																																																				0.374	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	NM_001349	Frame_Shift_Del
THSD7B	80731	broad.mit.edu	37	2	138373761	138373761	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:138373761C>T	ENST00000409968.1	+	18	3618	c.3440C>T	c.(3439-3441)aCa>aTa	p.T1147I	THSD7B_ENST00000272643.3_Missense_Mutation_p.T1150I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.T1119I			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1149	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					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)		GATCCCCACACAATGCAGAGA	0.418																																						uc002tva.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.(3349-3351)aCa>aTa		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							119.0	124.0	123.0					2																	138373761		2081	4209	6290	SO:0001583	missense	80731							g.chr2:138373761C>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.3440C>T	2.37:g.138373761C>T	ENSP00000387145:p.Thr1147Ile					THSD7B_uc010zbj.1_Intron	p.T1117I	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	16	3350	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3350C>T		.	.	.	.	.	.	.	.	.	.	C	14.48	2.548899	0.45383	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52754	0.65;0.65;0.65	5.21	5.21	0.72293	.	0.455504	0.23928	N	0.043162	T	0.46054	0.1373	L	0.54323	1.7	0.80722	D	1	B	0.12630	0.006	B	0.13407	0.009	T	0.30238	-0.9985	10	0.30078	T	0.28	.	17.6743	0.88226	0.0:1.0:0.0:0.0	.	1119	C9JKN6	.	I	1147;1150;1119	ENSP00000387145:T1147I;ENSP00000272643:T1150I;ENSP00000413841:T1119I	ENSP00000272643:T1150I	T	+	2	0	THSD7B	138090231	0.746000	0.28272	0.996000	0.52242	0.990000	0.78478	0.962000	0.29280	2.708000	0.92522	0.655000	0.94253	ACA		0.418	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
FAP	2191	broad.mit.edu	37	2	163074520	163074520	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:163074520T>A	ENST00000188790.4	-	9	945	c.738A>T	c.(736-738)agA>agT	p.R246S	FAP_ENST00000443424.1_Missense_Mutation_p.R221S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTTATTGTTCTAGGATATT	0.353																																						uc002ucd.3																			0		p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.(736-738)agA>agT		Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.							96.0	101.0	99.0					2																	163074520		2203	4300	6503	SO:0001583	missense	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163074520T>A	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.738A>T	2.37:g.163074520T>A	ENSP00000188790:p.Arg246Ser					FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S	p.R246S	NM_004460	NP_004451	Q12884	SEPR_HUMAN			8	946	-			246						Missense_Mutation	SNP	ENST00000188790.4	37	c.738A>T	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.439489	0.43326	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.29917	1.55;1.64	5.74	4.55	0.56014	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.201896	0.53938	D	0.000053	T	0.26048	0.0635	L	0.47716	1.5	0.49798	D	0.999828	B;B;B	0.25169	0.012;0.119;0.119	B;B;B	0.24701	0.055;0.032;0.032	T	0.04090	-1.0978	10	0.20519	T	0.43	-27.2199	10.9801	0.47488	0.0:0.0792:0.0:0.9208	.	221;246;246	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	S	246;221	ENSP00000188790:R246S;ENSP00000411391:R221S	ENSP00000188790:R246S	R	-	3	2	FAP	162782766	0.961000	0.32948	1.000000	0.80357	0.930000	0.56654	0.360000	0.20250	1.049000	0.40321	0.460000	0.39030	AGA		0.353	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
DHRS9	10170	broad.mit.edu	37	2	169939876	169939876	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:169939876C>T	ENST00000327239.4	+	6	1855	c.351C>T	c.(349-351)ggC>ggT	p.G117G	DHRS9_ENST00000357546.2_Silent_p.G117G|DHRS9_ENST00000436483.2_Silent_p.G117G|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Silent_p.G117G|DHRS9_ENST00000432060.2_Silent_p.G177G|DHRS9_ENST00000428522.1_Silent_p.G117G|DHRS9_ENST00000412271.1_Silent_p.G117G	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	117					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTTCCCGGCGTGCTGGCTC	0.468																																						uc010zdc.2																			0				breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						c.(529-531)ggC>ggT		Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.							120.0	103.0	109.0					2																	169939876		2203	4300	6503	SO:0001819	synonymous_variant	10170				9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity	g.chr2:169939876C>T	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.351C>T	2.37:g.169939876C>T						DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G	p.G177G	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN			2	643	+			117					B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Silent	SNP	ENST00000327239.4	37	c.531C>T	CCDS2231.1																																																																																				0.468	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
TTN	7273	broad.mit.edu	37	2	179599471	179599471	+	Silent	SNP	G	G	A	rs376217206		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:179599471G>A	ENST00000591111.1	-	49	14453	c.14229C>T	c.(14227-14229)gtC>gtT	p.V4743V	TTN_ENST00000589042.1_Silent_p.V5060V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.V3816V|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12123	Ig-like 27.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V3816V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCACTGCCGACGTCATTCA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20524	0.0		0.0	False		,,,				2504	0.0					uc021vsy.1																			1	Substitution - coding silent(1)	p.V3816V(1)	large_intestine(1)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(11446-11448)gtC>gtT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,	2,3742		0,2,1870	150.0	146.0	147.0		,11448,,	-11.3	0.1	2		147	0,8228		0,0,4114	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,2,5984	AA,AG,GG		0.0,0.0534,0.0167	,,,	,3816/33424,,	179599471	2,11970	1872	4114	5986	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599471G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14229C>T	2.37:g.179599471G>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V	p.V3816V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		47	11673	-			4743					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.11448C>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DGKD	8527	broad.mit.edu	37	2	234363420	234363420	+	Missense_Mutation	SNP	C	C	G	rs376456548		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:234363420C>G	ENST00000264057.2	+	19	2288	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	DGKD_ENST00000409813.3_Missense_Mutation_p.T715R	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	759					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTATTACACGGAGAAATGT	0.453																																						uc002vui.1																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38						c.(2275-2277)aCg>aGg		Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	Phosphatidylserine(DB00144)						129.0	117.0	121.0					2																	234363420		2203	4300	6503	SO:0001583	missense	8527				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	g.chr2:234363420C>G	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2276C>G	2.37:g.234363420C>G	ENSP00000264057:p.Thr759Arg					DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript	p.T759R	NM_152879	NP_690618	Q16760	DGKD_HUMAN		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	18	2288	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)	759					Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	ENST00000264057.2	37	c.2276C>G	CCDS2504.1	.	.	.	.	.	.	.	.	.	.	C	5.515	0.279952	0.10458	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.80393	-1.21;-1.37	4.11	4.11	0.48088	.	0.159299	0.40469	N	0.001081	T	0.76176	0.3951	L	0.57536	1.79	0.43054	D	0.994667	B;P;B	0.39391	0.031;0.671;0.018	B;B;B	0.42343	0.007;0.384;0.011	T	0.71530	-0.4565	10	0.11794	T	0.64	.	11.5332	0.50622	0.0:0.9126:0.0:0.0874	.	643;715;759	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	R	759;715	ENSP00000264057:T759R;ENSP00000386455:T715R	ENSP00000264057:T759R	T	+	2	0	DGKD	234028159	0.979000	0.34478	0.446000	0.26920	0.050000	0.14768	2.527000	0.45615	2.305000	0.77605	0.643000	0.83706	ACG		0.453	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
PCSK2	5126	broad.mit.edu	37	20	17446060	17446060	+	Missense_Mutation	SNP	G	G	A	rs567308071		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:17446060G>A	ENST00000262545.2	+	11	1607	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R412H|PCSK2_ENST00000536609.1_Missense_Mutation_p.R396H|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	431	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGTGGCGGCGCAATGGGGTC	0.567																																						uc002wpm.3																			0		p.R431C(1)|p.R430Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1291-1293)cGc>cAc		Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						97.0	70.0	79.0					20																	17446060		2203	4300	6503	SO:0001583	missense	5126				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	g.chr20:17446060G>A	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1292G>A	20.37:g.17446060G>A	ENSP00000262545:p.Arg431His					PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H	p.R431H	NM_002594	NP_001188457	P16519	NEC2_HUMAN			10	1646	+			431					B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	c.1292G>A	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603077	0.66445	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.87966	-2.32;-2.32;-2.32	5.61	4.66	0.58398	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.90038	0.6889	L	0.49571	1.57	0.58432	D	0.999999	D;D;D	0.67145	0.981;0.99;0.996	P;P;D	0.63488	0.841;0.841;0.915	D	0.89484	0.3752	10	0.44086	T	0.13	-24.9218	13.3526	0.60611	0.0765:0.0:0.9235:0.0	.	396;412;431	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	H	412;431;396	ENSP00000367131:R412H;ENSP00000262545:R431H;ENSP00000437458:R396H	ENSP00000262545:R431H	R	+	2	0	PCSK2	17394060	1.000000	0.71417	0.963000	0.40424	0.743000	0.42351	9.461000	0.97646	1.376000	0.46267	0.555000	0.69702	CGC		0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
SYCP2	10388	broad.mit.edu	37	20	58444912	58444912	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:58444912G>A	ENST00000357552.3	-	36	3907	c.3682C>T	c.(3682-3684)Cgg>Tgg	p.R1228W	SYCP2_ENST00000371001.2_Missense_Mutation_p.R1228W			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1228					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCATAAACCGTTCTTCTGAA	0.294																																						uc002yaz.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(3682-3684)Cgg>Tgg		Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.							150.0	145.0	147.0					20																	58444912		2201	4297	6498	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58444912G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.3682C>T	20.37:g.58444912G>A	ENSP00000350162:p.Arg1228Trp						p.R1228W	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		34	3821	-	all_lung(29;0.00344)		1228					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.3682C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402525	0.25291	.	.	ENSG00000196074	ENST00000371001;ENST00000357552	T;T	0.14766	2.48;2.48	4.91	1.59	0.23543	.	1.832170	0.03193	N	0.173616	T	0.12135	0.0295	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.46975	0.533	T	0.23583	-1.0184	10	0.56958	D	0.05	6.902	6.819	0.23847	0.0:0.1636:0.4502:0.3862	.	1228	Q9BX26	SYCP2_HUMAN	W	1228	ENSP00000360040:R1228W;ENSP00000350162:R1228W	ENSP00000350162:R1228W	R	-	1	2	SYCP2	57878307	0.001000	0.12720	0.321000	0.25320	0.361000	0.29550	-0.606000	0.05654	0.440000	0.26502	0.563000	0.77884	CGG		0.294	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258	
KRTAP10-7	386675	broad.mit.edu	37	21	46021295	46021295	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr21:46021295A>C	ENST00000380102.2	+	1	799	c.774A>C	c.(772-774)ccA>ccC	p.P258P	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	258	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCCAGCCAGCTTGCTGCA	0.632																																						uc002zfn.4																			0				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						c.(757-759)ccA>ccC		Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.							140.0	141.0	141.0					21																	46021295		2203	4300	6503	SO:0001819	synonymous_variant	386675					keratin filament		g.chr21:46021295A>C	AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.774A>C	21.37:g.46021295A>C						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.P253P	NM_198689	NP_941962	P60409	KR107_HUMAN			1	784	+			258			30 X 5 AA repeats of C-C-X(3).		Q0VDJ8|Q70LJ2	Silent	SNP	ENST00000380102.2	37	c.759A>C																																																																																					0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
LZTR1	8216	broad.mit.edu	37	22	21342314	21342314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:21342314A>C	ENST00000215739.8	+	5	775	c.416A>C	c.(415-417)gAc>gCc	p.D139A	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D120A	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	139					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACACTGGGGACATTTATTCC	0.453																																						uc002zto.3																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(415-417)gAc>gCc		Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.							79.0	80.0	80.0					22																	21342314		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21342314A>C	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.416A>C	22.37:g.21342314A>C	ENSP00000215739:p.Asp139Ala					LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A	p.D139A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		4	519	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	139					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.416A>C	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.581249	0.86748	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59224	0.67;0.28	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;0.999;0.996	T	0.73522	-0.3956	10	0.49607	T	0.09	-41.8248	13.5984	0.62004	1.0:0.0:0.0:0.0	.	120;98;139;98	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	A	98;139;120	ENSP00000215739:D139A;ENSP00000374006:D120A	ENSP00000215739:D139A	D	+	2	0	LZTR1	19672314	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.313000	0.96297	2.102000	0.63906	0.459000	0.35465	GAC		0.453	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
MYO18B	84700	broad.mit.edu	37	22	26348345	26348345	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:26348345G>C	ENST00000407587.2	+	38	6098	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	MYO18B_ENST00000335473.7_Missense_Mutation_p.E1976Q|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1976Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1976	Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGACCTAGAGAACAAGAC	0.517																																						uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(5926-5928)Gag>Cag		Homo sapiens myosin XVIIIB (MYO18B), mRNA.							67.0	72.0	70.0					22																	26348345		2039	4203	6242	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26348345G>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.5929G>C	22.37:g.26348345G>C	ENSP00000386096:p.Glu1977Gln					MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank	p.E1976Q	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			37	6176	+			1976			Tail.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.5926G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.164632	0.94727	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88741	-2.41;-2.41;-2.42	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.94574	0.8252	M	0.77820	2.39	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.998;0.999	D	0.94929	0.8080	10	0.87932	D	0	.	18.3618	0.90377	0.0:0.0:1.0:0.0	.	1489;1976;1977;1976	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	Q	1976;1976;1977	ENSP00000441229:E1976Q;ENSP00000334563:E1976Q;ENSP00000386096:E1977Q	ENSP00000334563:E1976Q	E	+	1	0	MYO18B	24678345	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.111000	0.94308	2.592000	0.87571	0.655000	0.94253	GAG		0.517	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
SMC1B	27127	broad.mit.edu	37	22	45750854	45750854	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:45750854G>C	ENST00000357450.4	-	20	3102	c.3103C>G	c.(3103-3105)Caa>Gaa	p.Q1035E	SMC1B_ENST00000404354.3_Missense_Mutation_p.Q1035E	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1035					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTGGACTCTTGAAACTTGTCT	0.408																																						uc003bgc.3																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3103-3105)Caa>Gaa		Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.							186.0	167.0	173.0					22																	45750854		1856	4104	5960	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45750854G>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.3103C>G	22.37:g.45750854G>C	ENSP00000350036:p.Gln1035Glu					SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E	p.Q1035E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	19	3155	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	1035					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.3103C>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657604	0.88154	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.77358	-1.09;-0.98	5.93	5.93	0.95920	.	0.000000	0.52532	D	0.000062	T	0.81221	0.4777	M	0.72118	2.19	0.80722	D	1	P;P	0.45531	0.86;0.819	P;P	0.49528	0.535;0.614	T	0.76271	-0.3020	10	0.05436	T	0.98	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1035;1035	Q8NDV3-2;Q8NDV3-3	.;.	E	1035	ENSP00000350036:Q1035E;ENSP00000385902:Q1035E	ENSP00000350036:Q1035E	Q	-	1	0	SMC1B	44129518	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.720000	0.84759	2.826000	0.97356	0.655000	0.94253	CAA		0.408	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
KCNH8	131096	broad.mit.edu	37	3	19574969	19574969	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:19574969C>T	ENST00000328405.2	+	16	2968	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	901					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTTCTGTCACCTCAGCAGCCA	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			0		p.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						c.(2701-2703)cCt>cTt		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.							118.0	102.0	107.0					3																	19574969		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19574969C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2702C>T	3.37:g.19574969C>T	ENSP00000328813:p.Pro901Leu					KCNH8_uc010hex.1_Missense_Mutation_p.P362L	p.P901L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			15	2897	+			901					B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2702C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.005064	0.35415	.	.	ENSG00000183960	ENST00000328405	D	0.98747	-5.11	5.68	4.78	0.61160	.	0.605470	0.12105	U	0.499104	D	0.96312	0.8797	L	0.40543	1.245	0.58432	D	0.999999	B	0.18968	0.032	B	0.19946	0.027	D	0.93262	0.6644	9	.	.	.	.	9.2226	0.37386	0.1465:0.7812:0.0:0.0723	.	901	Q96L42	KCNH8_HUMAN	L	901	ENSP00000328813:P901L	.	P	+	2	0	KCNH8	19549973	0.247000	0.23920	0.997000	0.53966	0.890000	0.51754	3.067000	0.50010	1.332000	0.45431	0.655000	0.94253	CCT		0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
NBEAL2	23218	broad.mit.edu	37	3	47041686	47041686	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:47041686G>T	ENST00000450053.3	+	27	4276	c.4097G>T	c.(4096-4098)gGa>gTa	p.G1366V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Splice_Site_p.G1182V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1366					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTAGTGTAGGATCAGGCAAC	0.637																																						uc003cqp.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4096-4098)gGa>gTa		Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.							104.0	110.0	108.0					3																	47041686		2104	4221	6325	SO:0001583	missense	23218						binding	g.chr3:47041686G>T	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4097G>T	3.37:g.47041686G>T	ENSP00000415034:p.Gly1366Val					NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank	p.G1366V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)	26	4276	+		Acute lymphoblastic leukemia(5;0.0534)	1366					O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	c.4097G>T	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.57|11.57	1.677828|1.677828	0.29783|0.29783	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000292309;ENST00000450053	.|T;T	.|0.57595	.|0.46;0.39	5.48|5.48	3.68|3.68	0.42216|0.42216	.|.	.|0.056297	.|0.64402	.|D	.|0.000002	T|T	0.49508|0.49508	0.1561|0.1561	L|L	0.50333|0.50333	1.59|1.59	0.32817|0.32817	D|D	0.502278|0.502278	.|P	.|0.36065	.|0.535	.|B	.|0.40506	.|0.331	T|T	0.62445|0.62445	-0.6853|-0.6853	5|10	.|0.87932	.|D	.|0	.|.	10.299|10.299	0.43642|0.43642	0.1634:0.0:0.8366:0.0|0.1634:0.0:0.8366:0.0	.|.	.|1366	.|Q6ZNJ1	.|NBEL2_HUMAN	Y|V	654|1182;1366	.|ENSP00000292309:G1182V;ENSP00000415034:G1366V	.|ENSP00000292309:G1182V	D|G	+|+	1|2	0|0	NBEAL2|NBEAL2	47016690|47016690	0.081000|0.081000	0.21417|0.21417	0.390000|0.390000	0.26220|0.26220	0.486000|0.486000	0.33341|0.33341	1.852000|1.852000	0.39348|0.39348	0.673000|0.673000	0.31224|0.31224	0.561000|0.561000	0.74099|0.74099	GAT|GGA		0.637	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
CELSR3	1951	broad.mit.edu	37	3	48685382	48685382	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:48685382G>A	ENST00000164024.4	-	20	7301	c.7021C>T	c.(7021-7023)Cgt>Tgt	p.R2341C	CELSR3_ENST00000544264.1_Missense_Mutation_p.R2346C	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2341					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTAGCGACGGGCCCCCCGG	0.632																																						uc003cuf.1																			0		p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7231-7233)Cgt>Tgt		Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.							104.0	115.0	111.0					3																	48685382		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685382G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7021C>T	3.37:g.48685382G>A	ENSP00000164024:p.Arg2341Cys					CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C	p.R2411C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7231	-			2341					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.7231C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902759	0.33628	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.09723	2.95;2.95	4.94	4.0	0.46444	Domain of unknown function DUF3497 (1);	.	.	.	.	T	0.22898	0.0553	L	0.57536	1.79	0.19945	N	0.999946	B;D	0.65815	0.092;0.995	B;P	0.56823	0.017;0.807	T	0.02498	-1.1150	9	0.56958	D	0.05	.	11.7918	0.52073	0.0:0.0:0.7121:0.2879	.	2341;2411	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	C	2341;2346	ENSP00000164024:R2341C;ENSP00000445694:R2346C	ENSP00000164024:R2341C	R	-	1	0	CELSR3	48660386	0.969000	0.33509	0.307000	0.25127	0.728000	0.41692	2.398000	0.44486	2.459000	0.83118	0.462000	0.41574	CGT		0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
DNAJC13	23317	broad.mit.edu	37	3	132217972	132217972	+	Missense_Mutation	SNP	T	T	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132217972T>A	ENST00000260818.6	+	37	4407	c.4159T>A	c.(4159-4161)Tta>Ata	p.L1387I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1387					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTTCAGATTTACAGCCTTA	0.328																																						uc003eor.3																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(4159-4161)Tta>Ata		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.							61.0	58.0	59.0					3																	132217972		2203	4300	6503	SO:0001583	missense	23317						heat shock protein binding	g.chr3:132217972T>A	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4159T>A	3.37:g.132217972T>A	ENSP00000260818:p.Leu1387Ile						p.L1387I	NM_015268	NP_056083	O75165	DJC13_HUMAN			36	4224	+			1387					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	c.4159T>A	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.993941	0.74703	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.49720	0.77	5.32	5.32	0.75619	Armadillo-type fold (1);	0.000000	0.64402	D	0.000004	T	0.69097	0.3073	M	0.86028	2.79	0.58432	D	0.999999	D	0.69078	0.997	D	0.78314	0.991	T	0.73852	-0.3852	10	0.72032	D	0.01	.	10.0139	0.42003	0.0:0.0759:0.0:0.9241	.	1387	O75165	DJC13_HUMAN	I	1387;34	ENSP00000260818:L1387I	ENSP00000260818:L1387I	L	+	1	2	DNAJC13	133700662	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	3.716000	0.54904	2.148000	0.66965	0.454000	0.30748	TTA		0.328	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
ACAD11	84129	broad.mit.edu	37	3	132361623	132361623	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132361623C>A	ENST00000264990.6	-	3	1244	c.273G>T	c.(271-273)caG>caT	p.Q91H	ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.Q91H|ACAD11_ENST00000481970.2_Missense_Mutation_p.Q91H	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11	91					fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACAAGGCTTTCTGGACTTTAA	0.323																																						uc003eov.4																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(271-273)caG>caT		Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.							87.0	92.0	90.0					3																	132361623		2203	4300	6503	SO:0001583	missense	84129				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132361623C>A	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.273G>T	3.37:g.132361623C>A	ENSP00000264990:p.Gln91His						p.Q91H	NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN			2	653	-			511					Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	Missense_Mutation	SNP	ENST00000264990.6	37	c.273G>T	CCDS3074.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.030370	0.75504	.	.	ENSG00000240303	ENST00000355458;ENST00000264990;ENST00000481970	T;T;T	0.28895	1.59;1.59;1.59	6.06	6.06	0.98353	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	.	.	.	.	T	0.63745	0.2537	M	0.92970	3.365	0.80722	D	1	D;D	0.76494	0.984;0.999	P;D	0.67382	0.886;0.951	T	0.71477	-0.4581	9	0.87932	D	0	.	14.7322	0.69391	0.0:0.9314:0.0:0.0686	.	91;91	D6RDI8;Q709F0	.;ACD11_HUMAN	H	91	ENSP00000347636:Q91H;ENSP00000264990:Q91H;ENSP00000420907:Q91H	ENSP00000264990:Q91H	Q	-	3	2	ACAD11	133844313	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.307000	0.59123	2.882000	0.98803	0.655000	0.94253	CAG		0.323	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357279.2	NM_032169	
ATP11B	23200	broad.mit.edu	37	3	182559871	182559871	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:182559871G>T	ENST00000323116.5	+	8	925	c.665G>T	c.(664-666)gGa>gTa	p.G222V	ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	222					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTCATGGGACGAATGATC	0.299																																						uc003flb.3																			0				breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41						c.(664-666)gGa>gTa		Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.							88.0	91.0	90.0					3																	182559871		2203	4300	6503	SO:0001583	missense	23200				aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr3:182559871G>T	AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"""ATPases / P-type"""	13553	protein-coding gene	gene with protein product		605869	"""ATPase, Class VI, type 11B"""			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.665G>T	3.37:g.182559871G>T	ENSP00000321195:p.Gly222Val						p.G222V	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)		7	922	+	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		222					Q96FN1|Q9UKK7	Missense_Mutation	SNP	ENST00000323116.5	37	c.665G>T	CCDS33896.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.516700|4.516700	0.85495|0.85495	.|.	.|.	ENSG00000058063|ENSG00000058063	ENST00000498086|ENST00000323116	.|D	.|0.82711	.|-1.64	5.72|5.72	5.72|5.72	0.89469|0.89469	.|ATPase, P-type, ATPase-associated domain (1);	.|0.050037	.|0.85682	.|D	.|0.000000	D|D	0.94686|0.94686	0.8286|0.8286	H|H	0.97265|0.97265	3.97|3.97	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.96166|0.96166	0.9119|0.9119	5|10	.|0.87932	.|D	.|0	.|.	18.0583|18.0583	0.89369|0.89369	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222	.|Q9Y2G3	.|AT11B_HUMAN	Y|V	23|222	.|ENSP00000321195:G222V	.|ENSP00000321195:G222V	D|G	+|+	1|2	0|0	ATP11B|ATP11B	184042565|184042565	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.209000|7.209000	0.77916|0.77916	2.710000|2.710000	0.92621|0.92621	0.585000|0.585000	0.79938|0.79938	GAC|GGA		0.299	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350598.1	NM_014616	
DNAH5	1767	broad.mit.edu	37	5	13717485	13717485	+	Missense_Mutation	SNP	G	G	A	rs200969063		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:13717485G>A	ENST00000265104.4	-	73	12748	c.12644C>T	c.(12643-12645)gCg>gTg	p.A4215V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4215	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAAAGTCCGCTTGGTTAAA	0.532									Kartagener syndrome				G|||	1	0.000199681	0.0	0.0014	5008	,	,		16913	0.0		0.0	False		,,,				2504	0.0					uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(12643-12645)gCg>gTg		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							75.0	64.0	68.0					5																	13717485		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13717485G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12644C>T	5.37:g.13717485G>A	ENSP00000265104:p.Ala4215Val					DNAH5_uc003jfc.2_Missense_Mutation_p.A383V	p.A4215V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			72	12686	-	Lung NSC(4;0.00476)		4215			AAA 6 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.12644C>T	CCDS3882.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	32	5.172449	0.94807	.	.	ENSG00000039139	ENST00000265104	T	0.10477	2.87	5.54	5.54	0.83059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.43722	0.1260	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.68483	0.958	T	0.54510	-0.8283	10	0.87932	D	0	.	19.4892	0.95044	0.0:0.0:1.0:0.0	.	4215	Q8TE73	DYH5_HUMAN	V	4215	ENSP00000265104:A4215V	ENSP00000265104:A4215V	A	-	2	0	DNAH5	13770485	1.000000	0.71417	0.838000	0.33150	0.708000	0.40852	9.843000	0.99491	2.604000	0.88044	0.655000	0.94253	GCG		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
C5orf42	65250	broad.mit.edu	37	5	37183582	37183582	+	Silent	SNP	A	A	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:37183582A>C	ENST00000508244.1	-	25	4794	c.4701T>G	c.(4699-4701)ccT>ccG	p.P1567P	C5orf42_ENST00000274258.7_Silent_p.P448P|C5orf42_ENST00000425232.2_Silent_p.P1567P			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1567						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCTGGAATAAGGTAGGTCTC	0.323																																						uc011cpa.1																			0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(4699-4701)ccT>ccG		Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.							68.0	69.0	69.0					5																	37183582		2203	4300	6503	SO:0001819	synonymous_variant	65250							g.chr5:37183582A>C		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4701T>G	5.37:g.37183582A>C						C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P	p.P1567P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		25	4932	-	all_lung(31;0.000616)		1567					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	c.4701T>G	CCDS34146.2																																																																																				0.323	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
IRF1	3659	broad.mit.edu	37	5	131821402	131821402	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:131821402G>A	ENST00000245414.4	-	8	932	c.674C>T	c.(673-675)aCa>aTa	p.T225I	IRF1_ENST00000405885.2_Missense_Mutation_p.T225I|IRF1_ENST00000463784.1_5'Flank	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	225					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATCCTCATCTGTTGTAGCTGT	0.542																																						uc003kxa.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(673-675)aCa>aTa		Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.							262.0	190.0	214.0					5																	131821402		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131821402G>A		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.674C>T	5.37:g.131821402G>A	ENSP00000245414:p.Thr225Ile					C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I	p.T225I	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	7	908	-		all_cancers(142;0.026)|Breast(839;0.198)	225					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.674C>T	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842032	0.51057	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654	D;D;D	0.99207	-1.92;-1.92;-5.56	5.63	5.63	0.86233	.	2.041440	0.01677	N	0.025929	D	0.98642	0.9545	L	0.60455	1.87	0.33414	D	0.578981	P;B	0.42039	0.769;0.376	B;B	0.41299	0.353;0.154	D	0.93307	0.6681	10	0.62326	D	0.03	-13.4046	12.5837	0.56406	0.0788:0.0:0.9212:0.0	.	225;225	Q5FBX3;P10914	.;IRF1_HUMAN	I	225;225;184	ENSP00000245414:T225I;ENSP00000384406:T225I;ENSP00000405655:T184I	ENSP00000245414:T225I	T	-	2	0	IRF1	131849301	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.458000	0.53014	2.826000	0.97356	0.655000	0.94253	ACA		0.542	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198	
DSP	1832	broad.mit.edu	37	6	7576571	7576571	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:7576571G>A	ENST00000379802.3	+	19	3016	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	DSP_ENST00000418664.2_Missense_Mutation_p.R892H	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	892	Globular 1.				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)		AGGAATTATCGTGATAACTAT	0.388																																						uc003mxp.1																			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.(2674-2676)cGt>cAt		Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.							109.0	112.0	111.0					6																	7576571		2203	4300	6503	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.chr6:7576571G>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.2675G>A	6.37:g.7576571G>A	ENSP00000369129:p.Arg892His					DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H	p.R892H	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	18	2954	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	892			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2675G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.945007	0.92593	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.34472	1.36;1.64	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000002	T	0.35158	0.0922	L	0.52011	1.625	0.46901	D	0.999248	D;D	0.71674	0.997;0.998	P;P	0.52481	0.572;0.7	T	0.10776	-1.0615	10	0.62326	D	0.03	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	939;892	Q4LE79;P15924	.;DESP_HUMAN	H	892;892;697	ENSP00000369129:R892H;ENSP00000396591:R892H	ENSP00000369129:R892H	R	+	2	0	DSP	7521570	0.998000	0.40836	0.992000	0.48379	0.943000	0.58893	5.071000	0.64382	2.865000	0.98341	0.655000	0.94253	CGT		0.388	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
OR10C1	442194	broad.mit.edu	37	6	29408603	29408603	+	Missense_Mutation	SNP	C	C	A	rs200438931		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:29408603C>A	ENST00000444197.2	+	1	1521	c.811C>A	c.(811-813)Cct>Act	p.P271T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	271						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(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACTGACCCTCTGGTGTC	0.552																																						uc011dlp.2																			0				NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(811-813)Cct>Act		Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.							207.0	225.0	218.0					6																	29408603		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408603C>A		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.811C>A	6.37:g.29408603C>A	ENSP00000419119:p.Pro271Thr					OR11A1_uc010jrh.1_Intron	p.P271T	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			0	888	+			271					Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.811C>A	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.201354	0.38905	.	.	ENSG00000206474	ENST00000444197	T	0.00051	8.81	3.54	2.65	0.31530	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38837	N	0.001553	T	0.00039	0.0001	N	0.01168	-0.975	0.09310	N	1	D	0.56521	0.976	P	0.62298	0.9	T	0.28235	-1.0050	10	0.87932	D	0	.	10.2968	0.43629	0.4975:0.5025:0.0:0.0	.	271	Q96KK4	O10C1_HUMAN	T	271	ENSP00000419119:P271T	ENSP00000419119:P271T	P	+	1	0	OR10C1	29516582	0.000000	0.05858	0.467000	0.27180	0.939000	0.58152	0.206000	0.17375	0.674000	0.31244	0.603000	0.83216	CCT		0.552	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
ZNF318	24149	broad.mit.edu	37	6	43308071	43308072	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:43308071_43308072delTC	ENST00000361428.2	-	10	3741_3742	c.3664_3665delGA	c.(3664-3666)gaafs	p.E1222fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1222	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCTTTACTTCTTTCACAGCC	0.45																																						uc003oux.3																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3664-3666)gaafs		Homo sapiens zinc finger protein 318 (ZNF318), mRNA.																																				SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308071_43308072delTC	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3664_3665delGA	6.37:g.43308071_43308072delTC	ENSP00000354964:p.Glu1222fs					ZNF318_uc003ouw.3_Intron	p.E1222fs	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		9	3742_3743	-			1222			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.3664_3665delGA	CCDS4895.2																																																																																				0.450	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345	
FILIP1	27145	broad.mit.edu	37	6	76023523	76023523	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:76023523G>C	ENST00000237172.7	-	5	2355	c.2025C>G	c.(2023-2025)aaC>aaG	p.N675K	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Missense_Mutation_p.N675K|FILIP1_ENST00000370020.1_Missense_Mutation_p.N576K	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	675										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAGAGGAAGTTAGCCTTAT	0.438																																						uc010kbe.3																			0		p.S678S(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(2032-2034)aaC>aaG		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.							235.0	236.0	236.0					6																	76023523		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76023523G>C	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2025C>G	6.37:g.76023523G>C	ENSP00000237172:p.Asn675Lys					FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K	p.N678K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	2564	-			675					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.2034C>G	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.309299	0.00237	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.13538	2.58;2.58;2.59	5.66	-3.38	0.04883	.	0.043974	0.85682	D	0.000000	T	0.00998	0.0033	N	0.02539	-0.55	0.24052	N	0.996048	B;B;B	0.28512	0.214;0.007;0.012	B;B;B	0.20767	0.031;0.01;0.023	T	0.32981	-0.9886	10	0.02654	T	1	-31.1347	15.9314	0.79663	0.6604:0.0:0.3396:0.0	.	675;675;675	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	K	675;675;576	ENSP00000376728:N675K;ENSP00000237172:N675K;ENSP00000359037:N576K	ENSP00000237172:N675K	N	-	3	2	FILIP1	76080243	0.012000	0.17670	0.409000	0.26459	0.949000	0.60115	-0.819000	0.04462	-0.788000	0.04504	0.563000	0.77884	AAC		0.438	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
SDK1	221935	broad.mit.edu	37	7	4050626	4050626	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:4050626C>T	ENST00000404826.2	+	15	2299	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	SDK1_ENST00000389531.3_Silent_p.N720N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	720	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCTGTCAAACGTTGGCCCTG	0.512																																						uc003smx.3																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2158-2160)aaC>aaT		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							75.0	69.0	71.0					7																	4050626		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4050626C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2160C>T	7.37:g.4050626C>T						SDK1_uc010kso.3_5'UTR	p.N720N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2299	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	720			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2160C>T	CCDS34590.1																																																																																				0.512	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
PCLO	27445	broad.mit.edu	37	7	82579889	82579889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82579889C>A	ENST00000333891.9	-	6	10352	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	PCLO_ENST00000423517.2_Missense_Mutation_p.G3339C|PCLO_ENST00000437081.1_Missense_Mutation_p.G59C	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTGACCTTCCAAAATT	0.478																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(10015-10017)Ggt>Tgt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							110.0	103.0	105.0					7																	82579889		1943	4150	6093	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82579889C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10015G>T	7.37:g.82579889C>A	ENSP00000334319:p.Gly3339Cys					PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C	p.G3339C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	10304	-			3270						Missense_Mutation	SNP	ENST00000333891.9	37	c.10015G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289273	0.40494	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T;T	0.35973	2.22;2.22;1.28	5.17	4.29	0.51040	.	.	.	.	.	T	0.53965	0.1829	L	0.59436	1.845	0.43761	D	0.996274	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.65874	0.751;0.939;0.939	T	0.58555	-0.7616	9	0.87932	D	0	.	14.2239	0.65845	0.0:0.9267:0.0:0.0733	.	3270;3339;3339	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	C	3270;3339;3339;59	ENSP00000334319:G3339C;ENSP00000388393:G3339C;ENSP00000393760:G59C	ENSP00000334319:G3339C	G	-	1	0	PCLO	82417825	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	2.864000	0.48404	1.304000	0.44892	0.563000	0.77884	GGT		0.478	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
PCLO	27445	broad.mit.edu	37	7	82784328	82784328	+	Silent	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82784328C>T	ENST00000333891.9	-	2	1966	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	PCLO_ENST00000423517.2_Silent_p.Q543Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGCTAGGCTGTTGAGCTG	0.547																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1627-1629)caG>caA		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							227.0	232.0	231.0					7																	82784328		1993	4176	6169	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784328C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1629G>A	7.37:g.82784328C>T						PCLO_uc003uhv.2_Silent_p.Q543Q	p.Q543Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			1	1918	-			489			Pro-rich.			Silent	SNP	ENST00000333891.9	37	c.1629G>A	CCDS47630.1																																																																																				0.547	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ABCB4	5244	broad.mit.edu	37	7	87049323	87049323	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:87049323C>T	ENST00000265723.4	-	19	2496	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ABCB4_ENST00000359206.3_Missense_Mutation_p.M795I|ABCB4_ENST00000545634.1_Missense_Mutation_p.M795I|ABCB4_ENST00000453593.1_Missense_Mutation_p.M795I|ABCB4_ENST00000358400.3_Missense_Mutation_p.M795I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	795	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CCTGTCTTAGCATTGCTTTAA	0.428																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2383-2385)atG>atA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							186.0	170.0	176.0					7																	87049323		2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87049323C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2385G>A	7.37:g.87049323C>T	ENSP00000265723:p.Met795Ile					ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I	p.M795I	NM_018849	NP_061337	P21439	MDR3_HUMAN			18	2461	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		795			ABC transmembrane type-1 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.2385G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830595	0.50845	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	6.03	6.03	0.97812	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.036687	0.85682	D	0.000000	D	0.85775	0.5775	L	0.43757	1.38	0.53688	D	0.999977	B;B;B	0.23185	0.023;0.016;0.081	B;B;B	0.34824	0.138;0.12;0.19	T	0.80525	-0.1344	10	0.34782	T	0.22	-21.6176	16.8032	0.85619	0.1292:0.8708:0.0:0.0	.	795;795;795	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	I	795	ENSP00000352135:M795I;ENSP00000351172:M795I;ENSP00000265723:M795I;ENSP00000392983:M795I;ENSP00000437465:M795I	ENSP00000265723:M795I	M	-	3	0	ABCB4	86887259	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	2.588000	0.46137	2.861000	0.98227	0.655000	0.94253	ATG		0.428	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
PIK3CG	5294	broad.mit.edu	37	7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A	rs373006568		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:106523501G>A	ENST00000359195.3	+	8	2963	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A885T|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A885T	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	885	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGAAAGACGCCACGACAAT	0.478																																						uc003vdv.4																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(2653-2655)Gcc>Acc		Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.		G	THR/ALA	0,4406		0,0,2203	181.0	179.0	179.0		2653	5.1	0.9	7		179	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3CG	NM_002649.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	885/1103	106523501	1,13005	2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106523501G>A		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.2653G>A	7.37:g.106523501G>A	ENSP00000352121:p.Ala885Thr					PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T	p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN			7	2738	+			885			PI3K/PI4K.		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.2653G>A	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713473	0.89112	0.0	1.16E-4	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000473541;ENST00000359195	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.1	5.1	0.69264	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.048712	0.85682	D	0.000000	T	0.79257	0.4415	L	0.31804	0.96	0.80722	D	1	P	0.51057	0.941	P	0.49226	0.603	T	0.82410	-0.0471	10	0.87932	D	0	-12.8611	18.7203	0.91691	0.0:0.0:1.0:0.0	.	885	P48736	PK3CG_HUMAN	T	885;885;158;885	ENSP00000392258:A885T;ENSP00000419260:A885T;ENSP00000417623:A158T;ENSP00000352121:A885T	ENSP00000352121:A885T	A	+	1	0	PIK3CG	106310737	1.000000	0.71417	0.934000	0.37439	0.758000	0.43043	9.170000	0.94795	2.637000	0.89404	0.561000	0.74099	GCC		0.478	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
ZNF282	8427	broad.mit.edu	37	7	148909483	148909483	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:148909483G>A	ENST00000262085.3	+	6	1091	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ZNF282_ENST00000479907.1_Missense_Mutation_p.R329Q	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	329					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCTTGTCCCGGATTAAACAG	0.498																																						uc003wfm.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(985-987)cGg>cAg		Homo sapiens zinc finger protein 282 (ZNF282), mRNA.							70.0	62.0	65.0					7																	148909483		2203	4300	6503	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148909483G>A	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.986G>A	7.37:g.148909483G>A	ENSP00000262085:p.Arg329Gln					ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron	p.R329Q	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	5	1091	+	Melanoma(164;0.15)		329					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.986G>A	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212089	0.58452	.	.	ENSG00000170265	ENST00000262085;ENST00000479907	T;T	0.05649	3.41;5.14	5.38	5.38	0.77491	.	0.000000	0.47455	D	0.000229	T	0.09113	0.0225	N	0.20530	0.585	0.39401	D	0.966597	D;D;D	0.76494	0.993;0.999;0.999	P;P;P	0.56751	0.644;0.805;0.805	T	0.45323	-0.9269	10	0.11485	T	0.65	-32.8616	14.655	0.68825	0.0:0.0:1.0:0.0	.	329;301;329	B4DRI5;Q7Z2V4;Q9UDV7	.;.;ZN282_HUMAN	Q	329	ENSP00000262085:R329Q;ENSP00000418840:R329Q	ENSP00000262085:R329Q	R	+	2	0	ZNF282	148540416	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.521000	0.35910	2.529000	0.85273	0.655000	0.94253	CGG		0.498	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575	
NCOA2	10499	broad.mit.edu	37	8	71057069	71057069	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:71057069G>A	ENST00000452400.2	-	13	2801	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	NCOA2_ENST00000267974.4_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	874					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGTCGTGGGTTATTA	0.388			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1				Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(2620-2622)Cga>Tga		Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.							115.0	108.0	110.0					8																	71057069		1842	4082	5924	SO:0001587	stop_gained	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71057069G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.2620C>T	8.37:g.71057069G>A	ENSP00000399968:p.Arg874*					NCOA2_uc011lfb.1_Intron	p.R874*	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		12	2782	-	Breast(64;0.201)		874					Q14CD2	Nonsense_Mutation	SNP	ENST00000452400.2	37	c.2620C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	43	10.007644	0.99315	.	.	ENSG00000140396	ENST00000452400	.	.	.	5.9	5.9	0.94986	.	0.067907	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8234	0.78676	0.0:0.0:0.8636:0.1364	.	.	.	.	X	874	.	ENSP00000399968:R874X	R	-	1	2	NCOA2	71219623	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.247000	0.72411	2.802000	0.96397	0.650000	0.86243	CGA		0.388	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1		
PHF20L1	51105	broad.mit.edu	37	8	133806658	133806658	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:133806658A>G	ENST00000395386.2	+	3	385	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	PHF20L1_ENST00000395379.1_Missense_Mutation_p.Y29C|PHF20L1_ENST00000395390.2_Missense_Mutation_p.Y29C|PHF20L1_ENST00000395376.1_Missense_Mutation_p.Y29C|PHF20L1_ENST00000337920.4_Missense_Mutation_p.Y29C|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	29	Tudor 1.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTTTGAGGTATCCATCACGA	0.338																																						uc003ytt.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15						c.(85-87)tAt>tGt		Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.							74.0	70.0	71.0					8																	133806658		2203	4300	6503	SO:0001583	missense	51105						nucleic acid binding|zinc ion binding	g.chr8:133806658A>G	AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.86A>G	8.37:g.133806658A>G	ENSP00000378784:p.Tyr29Cys					PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript	p.Y29C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		2	411	+	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		29			Tudor 1.		A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Missense_Mutation	SNP	ENST00000395386.2	37	c.86A>G	CCDS6367.2	.	.	.	.	.	.	.	.	.	.	A	22.9	4.354697	0.82243	.	.	ENSG00000129292	ENST00000395383;ENST00000395379;ENST00000361997;ENST00000395386;ENST00000315808;ENST00000337920;ENST00000395376;ENST00000395390	T;T;T;T;T;T;T;T	0.55930	0.56;0.56;0.59;1.21;0.49;0.57;0.59;1.23	5.81	5.81	0.92471	Tudor-like, plant (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.985;1.0;0.998;0.998	T	0.71424	-0.4597	10	0.87932	D	0	-3.2378	15.3482	0.74359	1.0:0.0:0.0:0.0	.	29;29;29;29;29	F8W9L8;A8MW92;A8MW92-4;A8MW92-2;A8MUE8	.;P20L1_HUMAN;.;.;.	C	29	ENSP00000378781:Y29C;ENSP00000378777:Y29C;ENSP00000355301:Y29C;ENSP00000378784:Y29C;ENSP00000324519:Y29C;ENSP00000338269:Y29C;ENSP00000378775:Y29C;ENSP00000378788:Y29C	ENSP00000324519:Y29C	Y	+	2	0	PHF20L1	133875840	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.317000	0.96327	2.214000	0.71695	0.528000	0.53228	TAT		0.338	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308949.3	NM_016018	
SECISBP2	79048	broad.mit.edu	37	9	91973081	91973081	+	Silent	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:91973081G>A	ENST00000375807.3	+	16	2507	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	SECISBP2_ENST00000339901.4_Silent_p.L739L|SECISBP2_ENST00000534113.2_Silent_p.L744L	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	812					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCCCAGCCCTGAAAGAAAAAG	0.562																																						uc004aqj.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						c.(2434-2436)ctG>ctA		Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.							45.0	53.0	50.0					9																	91973081		2203	4300	6503	SO:0001819	synonymous_variant	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91973081G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2436G>A	9.37:g.91973081G>A						SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L	p.L812L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			15	2516	+			812					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Silent	SNP	ENST00000375807.3	37	c.2436G>A	CCDS6683.1																																																																																				0.562	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077	
LAMC3	10319	broad.mit.edu	37	9	133927934	133927934	+	Missense_Mutation	SNP	C	C	T	rs199764333	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:133927934C>T	ENST00000361069.4	+	10	1820	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	563	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTGACCTTCCGGGTGCCCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	5	0.000998403	0.0	0.0	5008	,	,		14696	0.0		0.005	False		,,,				2504	0.0					uc004caa.1																			0		p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69						c.(1687-1689)Cgg>Tgg		Homo sapiens laminin, gamma 3 (LAMC3), mRNA.		C	TRP/ARG	0,4406		0,0,2203	63.0	71.0	68.0		1687	2.4	0.1	9		68	5,8595	4.3+/-15.6	0,5,4295	yes	missense	LAMC3	NM_006059.3	101	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	563/1576	133927934	5,13001	2203	4300	6503	SO:0001583	missense	10319				cell adhesion	basement membrane|membrane	structural molecule activity	g.chr9:133927934C>T	AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.1687C>T	9.37:g.133927934C>T	ENSP00000354360:p.Arg563Trp		OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1606		p.R563W	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)	9	1785	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	563			Laminin IV type A.		B1APX9|B1APY0|Q59H72	Missense_Mutation	SNP	ENST00000361069.4	37	c.1687C>T	CCDS6938.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	C	8.804	0.933646	0.18206	0.0	5.81E-4	ENSG00000050555	ENST00000361069;ENST00000355048	T	0.37584	1.19	5.38	2.39	0.29439	Laminin B type IV (2);	0.763568	0.12679	N	0.448166	T	0.26738	0.0654	L	0.58510	1.815	0.26138	N	0.980315	B	0.23128	0.08	B	0.30782	0.12	T	0.35475	-0.9787	10	0.59425	D	0.04	.	5.3628	0.16098	0.3034:0.53:0.0:0.1666	.	563	Q9Y6N6	LAMC3_HUMAN	W	563	ENSP00000354360:R563W	ENSP00000347156:R563W	R	+	1	2	LAMC3	132917755	0.232000	0.23762	0.066000	0.19879	0.041000	0.13682	0.407000	0.21049	0.190000	0.20209	-0.264000	0.10439	CGG		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054717.3	NM_006059	
DCAF12L2	340578	broad.mit.edu	37	X	125299442	125299442	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrX:125299442C>T	ENST00000360028.2	-	1	492	c.466G>A	c.(466-468)Gag>Aag	p.E156K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.E156K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	156								p.E156K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATTCAGCTCGATGGCATGG	0.682																																						uc004euk.2																			1	Substitution - Missense(1)	p.E156K(2)	large_intestine(1)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(466-468)Gag>Aag		Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.							74.0	80.0	78.0					X																	125299442		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299442C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.466G>A	X.37:g.125299442C>T	ENSP00000353128:p.Glu156Lys						p.E156K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			0	639	-			156					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.466G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.427559	0.25726	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.35605	1.3;1.3	4.09	1.17	0.20885	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.29850	0.0746	M	0.63843	1.955	0.30271	N	0.792277	P	0.40144	0.704	B	0.31869	0.137	T	0.18524	-1.0334	9	0.25751	T	0.34	.	11.1969	0.48717	0.0:0.3976:0.6024:0.0	.	156	Q5VW00	DC122_HUMAN	K	156	ENSP00000441489:E156K;ENSP00000353128:E156K	ENSP00000353128:E156K	E	-	1	0	DCAF12L2	125127123	0.996000	0.38824	0.216000	0.23742	0.132000	0.20833	1.550000	0.36223	0.112000	0.17975	0.544000	0.68410	GAG		0.682	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
PCDH11Y	83259	broad.mit.edu	37	Y	5605925	5605925	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrY:5605925G>A	ENST00000215473.6	+	6	3965	c.3965G>A	c.(3964-3966)cGc>cAc	p.R1322H				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1322					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGCTCCACGCCAACAGGCC	0.408																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3964-3966)cGc>cAc		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:5605925G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000215473.6:c.3965G>A	Y.37:g.5605925G>A	ENSP00000215473:p.Arg1322His					PCDH11Y_uc022ciy.1_Non-coding_Transcript	p.R1322H	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			4	4699	+			1322					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000215473.6	37	c.3965G>A																																																																																					0.408	PCDH11Y-201	KNOWN	basic	protein_coding	protein_coding		NM_032973	
