#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CORT	1325	broad.mit.edu	37	1	10510148	10510148	+	5'UTR	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:10510148C>T	ENST00000377049.3	+	0	373				APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|CORT_ENST00000320498.4_Silent_p.N6N|APITD1-CORT_ENST00000400900.2_Intron	NM_001302.4	NP_001293.3	O00230	CORT_HUMAN	cortistatin						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)	G-protein coupled receptor binding (GO:0001664)|neuropeptide hormone activity (GO:0005184)			breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GACACAAAAACAGCTGGAGAT	0.517																																							uc001ari.2		NA																	0					0						c.(16-18)AAC>AAT		cortistatin preproprotein							125.0	136.0	133.0					1																	10510148		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1325				inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity	g.chr1:10510148C>T	AF013252	CCDS117.1, CCDS117.2	1p36.22	2013-02-25			ENSG00000241563	ENSG00000241563		"""Endogenous ligands"""	2257	protein-coding gene	gene with protein product	"""prepro-cortistatin"""	602784				9205124	Standard	NM_001302		Approved	MGC32686		O00230	OTTHUMG00000001906	ENST00000377049.3:c.-133C>T	1.37:g.10510148C>T						APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	p.N6N	NM_001302	NP_001293	O00230	CORT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)	1	178	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	Error:Variant_position_missing_in_O00230_after_alignment					Q5T6G0|Q6UX11	Silent	SNP	ENST00000377049.3	37	c.18C>T	CCDS117.2																																																																																				0.517	CORT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005410.3	NM_001302		33	112	0	0	0	0.009535	0	33	112				
PRAMEF2	65122	broad.mit.edu	37	1	12919947	12919947	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:12919947G>A	ENST00000240189.2	+	3	774	c.687G>A	c.(685-687)aaG>aaA	p.K229K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	229					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)			p.K229K(1)		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)		GTTACCTGAAGGAGATGAAGA	0.403																																							uc001aum.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)AAG>AAA		PRAME family member 2							107.0	112.0	110.0					1																	12919947		2203	4299	6502	SO:0001819	synonymous_variant	65122							g.chr1:12919947G>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.687G>A	1.37:g.12919947G>A							p.K229K	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)	3	774	+	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)	229						Silent	SNP	ENST00000240189.2	37	c.687G>A	CCDS149.1																																																																																				0.403	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		15	96	0	0	0	0.004007	0	15	96				
SPEN	23013	broad.mit.edu	37	1	16258058	16258058	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:16258058G>A	ENST00000375759.3	+	11	5527	c.5323G>A	c.(5323-5325)Gaa>Aaa	p.E1775K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1775					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)		GCCAAAGGCCGAAAAGCCAGA	0.532																																							uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(5323-5325)GAA>AAA		spen homolog, transcriptional regulator							85.0	93.0	90.0					1																	16258058		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.chr1:16258058G>A		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.5323G>A	1.37:g.16258058G>A	ENSP00000364912:p.Glu1775Lys					SPEN_uc010obp.1_Missense_Mutation_p.E1734K	p.E1775K	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)	11	5527	+		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)	1775					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5323G>A	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905015	0.52333	.	.	ENSG00000065526	ENST00000375759	T	0.14144	2.53	5.0	5.0	0.66597	.	.	.	.	.	T	0.08670	0.0215	L	0.29908	0.895	0.48901	D	0.999724	P	0.45176	0.852	B	0.24541	0.054	T	0.32534	-0.9903	9	0.23891	T	0.37	-14.6811	18.2955	0.90145	0.0:0.0:1.0:0.0	.	1775	Q96T58	MINT_HUMAN	K	1775	ENSP00000364912:E1775K	ENSP00000364912:E1775K	E	+	1	0	SPEN	16130645	0.992000	0.36948	0.246000	0.24233	0.020000	0.10135	3.377000	0.52425	2.315000	0.78130	0.467000	0.42956	GAA		0.532	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		21	90	0	0	0	0.008871	0	21	90				
EIF4G3	8672	broad.mit.edu	37	1	21276584	21276584	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:21276584G>A	ENST00000264211.8	-	7	761	c.567C>T	c.(565-567)ccC>ccT	p.P189P	EIF4G3_ENST00000536266.1_Intron|EIF4G3_ENST00000374927.4_Silent_p.P189P|EIF4G3_ENST00000374935.3_Silent_p.P189P|EIF4G3_ENST00000602326.1_Silent_p.P195P|EIF4G3_ENST00000356916.3_Silent_p.P200P|EIF4G3_ENST00000400422.1_Silent_p.P189P|EIF4G3_ENST00000374937.3_Silent_p.P195P	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	189					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGCTGTGCTCGGGGACCTGGC	0.527																																							uc001bec.2		NA																	0				skin(1)	1						c.(565-567)CCC>CCT		eukaryotic translation initiation factor 4							49.0	50.0	50.0					1																	21276584		2203	4300	6503	SO:0001819	synonymous_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21276584G>A	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.567C>T	1.37:g.21276584G>A						EIF4G3_uc010odi.1_Intron|EIF4G3_uc010odj.1_Silent_p.P188P|EIF4G3_uc009vpz.2_Silent_p.P189P|EIF4G3_uc001bed.2_Silent_p.P189P|EIF4G3_uc001bef.2_Silent_p.P188P|EIF4G3_uc001bee.2_Silent_p.P195P|EIF4G3_uc001beg.2_Silent_p.P188P|EIF4G3_uc010odk.1_Silent_p.P189P|EIF4G3_uc001beh.2_Silent_p.P200P	p.P189P	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	8	823	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	189					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Silent	SNP	ENST00000264211.8	37	c.567C>T	CCDS214.1																																																																																				0.527	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	NM_003760		10	31	0	0	0	0.013537	0	10	31				
RHCE	6006	broad.mit.edu	37	1	25729191	25729191	+	Missense_Mutation	SNP	C	C	A	rs369664408		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:25729191C>A	ENST00000294413.7	-	3	440	c.382G>T	c.(382-384)Ggt>Tgt	p.G128C	RHCE_ENST00000495048.1_5'UTR|RHCE_ENST00000425135.1_Missense_Mutation_p.G128C|RHCE_ENST00000340849.4_Missense_Mutation_p.G128C|RHCE_ENST00000346452.4_Missense_Mutation_p.G128C|RHCE_ENST00000243186.6_Missense_Mutation_p.G128C|RHCE_ENST00000374352.2_Missense_Mutation_p.G112C|RHCE_ENST00000455194.1_Missense_Mutation_p.G128C|RHCE_ENST00000413854.1_Missense_Mutation_p.G128C|RHCE_ENST00000349438.4_Missense_Mutation_p.G128C|RHCE_ENST00000349320.3_Missense_Mutation_p.G112C	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	128			G -> D (in dbSNP:rs1053347). {ECO:0000269|PubMed:11724987}.			integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACAGCACCCGCTGAGATC	0.552																																							uc001bkf.2		NA																	0					0						c.(382-384)GGT>TGT		Rhesus blood group, CcEe antigens isoform 1							225.0	176.0	193.0					1																	25729191		2203	4300	6503	SO:0001583	missense	6006					integral to plasma membrane		g.chr1:25729191C>A	BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.382G>T	1.37:g.25729191C>A	ENSP00000294413:p.Gly128Cys					RHCE_uc001bkg.2_Missense_Mutation_p.G128C|RHCE_uc001bkh.2_Missense_Mutation_p.G128C|RHCE_uc001bki.2_Missense_Mutation_p.G128C|RHCE_uc001bkj.2_Missense_Mutation_p.G112C	p.G128C	NM_020485	NP_065231	P18577	RHCE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)	3	468	-		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	128			Helical; (Potential).		A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Missense_Mutation	SNP	ENST00000294413.7	37	c.382G>T	CCDS30635.1	.	.	.	.	.	.	.	.	.	.	C	7.924	0.739236	0.15642	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000425135;ENST00000340849;ENST00000349320;ENST00000346452;ENST00000294413;ENST00000447203;ENST00000349438	T;T;T;T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.56	2.65	0.31530	Ammonium transporter AmtB-like (3);	0.236860	0.42682	D	0.000671	T	0.81351	0.4804	M	0.92784	3.345	0.22066	N	0.999388	P;D;D;D;P	0.89917	0.831;1.0;1.0;0.998;0.952	P;D;D;D;D	0.85130	0.686;0.992;0.997;0.997;0.925	T	0.73304	-0.4025	10	0.87932	D	0	-0.7053	10.0897	0.42439	0.0:0.8171:0.0:0.1829	.	112;128;128;128;128	Q5VSJ9;E7EQ47;Q5VSJ7;Q5VSJ8;P18577	.;.;.;.;RHCE_HUMAN	C	128;128;128;112;128;128;128;112;128;128;128;128	ENSP00000415417:G128C;ENSP00000416275:G128C;ENSP00000363472:G112C;ENSP00000243186:G128C;ENSP00000392809:G128C;ENSP00000345084:G128C;ENSP00000311185:G112C;ENSP00000344485:G128C;ENSP00000294413:G128C;ENSP00000334570:G128C	ENSP00000243186:G128C	G	-	1	0	RHCE	25601778	0.029000	0.19370	0.000000	0.03702	0.000000	0.00434	2.048000	0.41278	0.177000	0.19895	-1.626000	0.00786	GGT		0.552	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020312.2	NM_020485		38	53	1	0	1.836e-18	0.003755	2.31916e-18	38	53				
ADPRHL2	54936	broad.mit.edu	37	1	36557266	36557266	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:36557266G>T	ENST00000373178.4	+	3	386	c.356G>T	c.(355-357)gGa>gTa	p.G119V		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	119						mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649)			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				TATGGTGCTGGAGTAGTCACT	0.507																																							uc001bzt.2		NA																	0				pancreas(1)	1						c.(355-357)GGA>GTA		ADP-ribosylhydrolase like 2							90.0	96.0	94.0					1																	36557266		2203	4300	6503	SO:0001583	missense	54936					cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity	g.chr1:36557266G>T	AJ427295	CCDS402.1	1p34.3	2008-02-05			ENSG00000116863	ENSG00000116863			21304	protein-coding gene	gene with protein product		610624				12070318, 16278211	Standard	NM_017825		Approved	ARH3, FLJ20446	uc001bzt.3	Q9NX46	OTTHUMG00000007628	ENST00000373178.4:c.356G>T	1.37:g.36557266G>T	ENSP00000362273:p.Gly119Val					ADPRHL2_uc001bzu.2_5'UTR	p.G119V	NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN			3	409	+		Myeloproliferative disorder(586;0.0393)	119					Q53G94|Q6IAB8|Q9BY47	Missense_Mutation	SNP	ENST00000373178.4	37	c.356G>T	CCDS402.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826314	0.71143	.	.	ENSG00000116863	ENST00000373178;ENST00000540867	T	0.28895	1.59	5.15	4.21	0.49690	.	0.109301	0.64402	D	0.000009	T	0.49592	0.1566	M	0.84511	2.7	0.80722	D	1	P	0.47910	0.902	P	0.52909	0.713	T	0.52087	-0.8622	10	0.31617	T	0.26	-9.2768	14.0512	0.64736	0.0:0.2924:0.7076:0.0	.	119	Q9NX46	ARHL2_HUMAN	V	119;39	ENSP00000362273:G119V	ENSP00000362273:G119V	G	+	2	0	ADPRHL2	36329853	1.000000	0.71417	0.785000	0.31869	0.990000	0.78478	3.974000	0.56852	2.370000	0.80446	0.563000	0.77884	GGA		0.507	ADPRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020199.1	NM_017825		26	49	1	0	5.45727e-16	0.008361	6.80387e-16	26	49				
POU3F1	5453	broad.mit.edu	37	1	38511276	38511276	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:38511276C>T	ENST00000373012.2	-	1	1174	c.1140G>A	c.(1138-1140)aaG>aaA	p.K380K	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	380					axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K380N(1)		cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GCACCACCTCCTTCTCCAGCT	0.672																																							uc001ccp.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1138-1140)AAG>AAA		POU domain, class 3, transcription factor 1							25.0	24.0	24.0					1																	38511276		2202	4300	6502	SO:0001819	synonymous_variant	5453				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:38511276C>T	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.1140G>A	1.37:g.38511276C>T							p.K380K	NM_002699	NP_002690	Q03052	PO3F1_HUMAN			1	1175	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	380			Homeobox.		Q5TAG2	Silent	SNP	ENST00000373012.2	37	c.1140G>A	CCDS30679.1																																																																																				0.672	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001213.1	NM_002699		4	12	0	0	0	0.009096	0	4	12				
TOE1	114034	broad.mit.edu	37	1	45808899	45808899	+	Missense_Mutation	SNP	C	C	T	rs145913038		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:45808899C>T	ENST00000372090.5	+	8	1641	c.1058C>T	c.(1057-1059)cCg>cTg	p.P353L	TOE1_ENST00000539779.1_Missense_Mutation_p.P273L|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	353						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TTGAACCTACCGGGGACACAG	0.557																																							uc009vxq.2		NA																	0				central_nervous_system(1)	1						c.(1057-1059)CCG>CTG		target of EGR1, member 1 (nuclear)		C	LEU/PRO	0,4406		0,0,2203	101.0	105.0	104.0		1058	3.0	0.0	1	dbSNP_134	104	1,8599	2.2+/-6.3	0,1,4299	no	missense	TOE1	NM_025077.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	353/511	45808899	1,13005	2203	4300	6503	SO:0001583	missense	114034					nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	g.chr1:45808899C>T		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1058C>T	1.37:g.45808899C>T	ENSP00000361162:p.Pro353Leu					MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.P273L|TOE1_uc001cnr.3_RNA	p.P353L	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN			8	1641	+	Acute lymphoblastic leukemia(166;0.155)		353					B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	c.1058C>T	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	3.870	-0.028043	0.07589	0.0	1.16E-4	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.21932	1.98;1.98	5.86	2.96	0.34315	.	0.929319	0.09274	N	0.824757	T	0.13586	0.0329	L	0.36672	1.1	0.09310	N	1	P;B	0.36733	0.567;0.331	B;B	0.25987	0.065;0.064	T	0.24584	-1.0156	10	0.62326	D	0.03	0.0907	4.4825	0.11774	0.3767:0.3347:0.2226:0.0661	.	273;353	B4DEM6;Q96GM8	.;TOE1_HUMAN	L	353;273	ENSP00000361162:P353L;ENSP00000438900:P273L	ENSP00000361162:P353L	P	+	2	0	TOE1	45581486	0.001000	0.12720	0.009000	0.14445	0.006000	0.05464	0.785000	0.26830	0.374000	0.24650	-0.257000	0.10917	CCG		0.557	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077		22	94	0	0	0	0.012319	0	22	94				
OSBPL9	114883	broad.mit.edu	37	1	52249623	52249623	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:52249623T>C	ENST00000428468.1	+	18	1552	c.1550T>C	c.(1549-1551)aTa>aCa	p.I517T	OSBPL9_ENST00000530544.1_Missense_Mutation_p.I436T|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I504T|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I500T|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I352T|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I535T|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I522T|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I339T|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I527T|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I407T|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I352T|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I339T			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	517					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AACAAGAAGATACAATTCAAT	0.378																																							uc001cst.2		NA																	0				central_nervous_system(1)	1						c.(1549-1551)ATA>ACA		oxysterol binding protein-like 9 isoform e							92.0	92.0	92.0					1																	52249623		2203	4300	6503	SO:0001583	missense	114883				lipid transport		lipid binding	g.chr1:52249623T>C	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1550T>C	1.37:g.52249623T>C	ENSP00000407168:p.Ile517Thr					OSBPL9_uc001css.2_Missense_Mutation_p.I522T|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.I518T|OSBPL9_uc001csu.2_Missense_Mutation_p.I527T|OSBPL9_uc001csv.2_Missense_Mutation_p.I352T|OSBPL9_uc001csw.2_Missense_Mutation_p.I504T|OSBPL9_uc001csy.2_Missense_Mutation_p.I339T|OSBPL9_uc001csz.2_Missense_Mutation_p.I339T|OSBPL9_uc001cta.2_Missense_Mutation_p.I407T|OSBPL9_uc001ctb.2_Missense_Mutation_p.I302T	p.I517T	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN			18	1569	+			517					B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	37	c.1550T>C	CCDS41332.3	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283221	0.80803	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39;1.39	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.93939	3.475	0.80722	D	1	D;D;D;D;D	0.63046	0.987;0.97;0.971;0.976;0.992	D;P;P;P;D	0.72982	0.979;0.79;0.9;0.9;0.912	T	0.78643	-0.2124	10	0.87932	D	0	-12.9514	15.3009	0.73949	0.0:0.0:0.0:1.0	.	500;407;533;517;522	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	T	504;535;522;527;352;517;500;436;352;407;339;339	ENSP00000360779:I504T;ENSP00000360775:I535T;ENSP00000337265:I522T;ENSP00000412733:I527T;ENSP00000402646:I352T;ENSP00000407168:I517T;ENSP00000413263:I500T;ENSP00000433675:I436T;ENSP00000433083:I352T;ENSP00000354970:I407T;ENSP00000433279:I339T;ENSP00000431980:I339T	ENSP00000337265:I522T	I	+	2	0	OSBPL9	52022211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.791000	0.85805	2.203000	0.70933	0.454000	0.30748	ATA		0.378	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4			7	27	0	0	0	0.00308	0	7	27				
GLIS1	148979	broad.mit.edu	37	1	53980329	53980329	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:53980329G>T	ENST00000312233.2	-	7	1893	c.1327C>A	c.(1327-1329)Cct>Act	p.P443T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						ATGGGCAGAGGGGACAGATGG	0.657																																							uc001cvr.1		NA																	0				skin(1)	1						c.(1327-1329)CCT>ACT		GLIS family zinc finger 1							96.0	97.0	97.0					1																	53980329		2203	4300	6503	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53980329G>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1327C>A	1.37:g.53980329G>T	ENSP00000309653:p.Pro443Thr						p.P443T	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			7	1894	-			443						Missense_Mutation	SNP	ENST00000312233.2	37	c.1327C>A	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.722581	0.48728	.	.	ENSG00000174332	ENST00000312233	T	0.14022	2.54	4.97	3.97	0.46021	.	0.000000	0.53938	D	0.000052	T	0.16214	0.0390	L	0.34521	1.04	0.45464	D	0.998435	D	0.53151	0.958	P	0.50082	0.63	T	0.00583	-1.1659	10	0.48119	T	0.1	.	12.8985	0.58113	0.0:0.0:0.8375:0.1625	.	443	Q8NBF1	GLIS1_HUMAN	T	443	ENSP00000309653:P443T	ENSP00000309653:P443T	P	-	1	0	GLIS1	53752917	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.091000	0.64505	2.688000	0.91661	0.563000	0.77884	CCT		0.657	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		7	46	1	0	0.00198382	0.001984	0.00214588	7	46				
LEPR	3953	broad.mit.edu	37	1	66083657	66083657	+	Silent	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:66083657G>T	ENST00000349533.6	+	16	2408	c.2223G>T	c.(2221-2223)gtG>gtT	p.V741V	LEPR_ENST00000371060.3_Silent_p.V741V|LEPR_ENST00000371059.3_Silent_p.V741V|LEPR_ENST00000344610.8_Silent_p.V741V|LEPR_ENST00000371058.1_Silent_p.V741V|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAAATATCGTGCAGTCACTCA	0.313																																							uc001dci.2		NA																	0				skin(1)	1						c.(2221-2223)GTG>GTT		leptin receptor isoform 1							87.0	79.0	82.0					1																	66083657		2203	4297	6500	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66083657G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2223G>T	1.37:g.66083657G>T						LEPR_uc001dcg.2_Silent_p.V741V|LEPR_uc001dch.2_Silent_p.V741V|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Silent_p.V741V|LEPR_uc001dck.2_Silent_p.V741V	p.V741V	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	16	2425	+			741			Extracellular (Potential).|Fibronectin type-III 4.		Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.2223G>T	CCDS631.1																																																																																				0.313	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		16	27	1	0	6.72482e-11	0.003163	8.01967e-11	16	27				
LRRIQ3	127255	broad.mit.edu	37	1	74540470	74540470	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:74540470A>G	ENST00000395089.1	-	5	871	c.872T>C	c.(871-873)aTa>aCa	p.I291T	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.I291T			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	291										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGGATAATATATATTCTGTGA	0.264																																							uc001dfy.3		NA																	0				ovary(2)	2						c.(871-873)ATA>ACA		leucine-rich repeats and IQ motif containing 3							36.0	32.0	33.0					1																	74540470		1764	4016	5780	SO:0001583	missense	127255							g.chr1:74540470A>G	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.872T>C	1.37:g.74540470A>G	ENSP00000378524:p.Ile291Thr					LRRIQ3_uc001dfz.3_RNA	p.I291T	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			6	1064	-			291					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	c.872T>C	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	A	4.733	0.136221	0.09032	.	.	ENSG00000162620	ENST00000417067;ENST00000395089;ENST00000354431	T;T	0.08546	3.08;3.08	4.51	3.35	0.38373	.	0.366248	0.19801	N	0.105753	T	0.02649	0.0080	L	0.36672	1.1	0.09310	N	1	B	0.33694	0.421	B	0.35470	0.203	T	0.37220	-0.9715	10	0.51188	T	0.08	.	8.3383	0.32228	0.7894:0.2106:0.0:0.0	.	291	A6PVS8	LRIQ3_HUMAN	T	2;291;291	ENSP00000378524:I291T;ENSP00000346414:I291T	ENSP00000346414:I291T	I	-	2	0	LRRIQ3	74313058	0.000000	0.05858	0.081000	0.20488	0.014000	0.08584	0.939000	0.28978	0.796000	0.33947	0.533000	0.62120	ATA		0.264	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		3	9	0	0	0	0.009096	0	3	9				
LPHN2	23266	broad.mit.edu	37	1	82417743	82417743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:82417743G>T	ENST00000370728.1	+	11	2344	c.1699G>T	c.(1699-1701)Gag>Tag	p.E567*	LPHN2_ENST00000370727.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.E567*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.E505*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.E567*|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.E567*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.E567*			O95490	LPHN2_HUMAN	latrophilin 2	567					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAGATTGATGGAGCAGTTGGT	0.458																																							uc001dit.3		NA																	0				ovary(3)|lung(3)|breast(2)|central_nervous_system(1)	9						c.(1699-1701)GAG>TAG		latrophilin 2 precursor							149.0	125.0	133.0					1																	82417743		2203	4300	6503	SO:0001587	stop_gained	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82417743G>T	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.1699G>T	1.37:g.82417743G>T	ENSP00000359763:p.Glu567*					LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Nonsense_Mutation_p.E567*|LPHN2_uc001div.2_Nonsense_Mutation_p.E567*|LPHN2_uc009wcd.2_Nonsense_Mutation_p.E567*|LPHN2_uc001diw.2_Nonsense_Mutation_p.E138*	p.E567*	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	9	1880	+			567			Extracellular (Potential).		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Nonsense_Mutation	SNP	ENST00000370728.1	37	c.1699G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	45|45	11.576662|11.576662	0.99578|0.99578	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|.	.|.	.|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.107473|.	0.64402|.	D|.	0.000009|.	.|T	.|0.77565	.|0.4149	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74287	.|-0.3714	.|3	0.39692|.	T|.	0.17|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|C	505;567;567;567;567;567;567;567;567;567;567;567;567;567|434	.|.	ENSP00000271029:E567X|.	E|W	+|+	1|3	0|0	LPHN2|LPHN2	82190331|82190331	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.458	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		15	12	1	0	1.3612e-06	0.003163	1.54189e-06	15	12				
PLPPR4	9890	broad.mit.edu	37	1	99771294	99771294	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:99771294C>A	ENST00000370185.3	+	7	1517	c.1020C>A	c.(1018-1020)caC>caA	p.H340Q	LPPR4_ENST00000457765.1_Missense_Mutation_p.H282Q|LPPR4_ENST00000370184.1_Missense_Mutation_p.H182Q	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		340					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGTTTCAGCACAGAGACGCCC	0.448																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1018-1020)CAC>CAA		plasticity related gene 1							157.0	155.0	156.0					1																	99771294		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771294C>A																												ENST00000370185.3:c.1020C>A	1.37:g.99771294C>A	ENSP00000359204:p.His340Gln					LPPR4_uc010oue.1_Missense_Mutation_p.H282Q	p.H340Q	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1126	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	340					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1020C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	1.722	-0.496252	0.04291	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.22134	2.54;2.6;1.97	5.62	2.28	0.28536	.	0.594604	0.18818	N	0.130330	T	0.03390	0.0098	N	0.16368	0.405	0.19300	N	0.999974	P;B	0.41265	0.744;0.001	B;B	0.32864	0.154;0.008	T	0.37407	-0.9707	9	.	.	.	-32.5005	9.7007	0.40184	0.0:0.6353:0.0:0.3647	.	282;340	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	Q	340;282;340;182	ENSP00000359204:H340Q;ENSP00000394913:H282Q;ENSP00000359203:H182Q	.	H	+	3	2	RP4-788L13.1	99543882	0.995000	0.38212	1.000000	0.80357	0.632000	0.37999	0.214000	0.17541	0.723000	0.32274	0.655000	0.94253	CAC		0.448	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			36	52	1	0	1.36239e-07	0.003271	1.57104e-07	36	52				
PLPPR4	9890	broad.mit.edu	37	1	99771339	99771339	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:99771339C>A	ENST00000370185.3	+	7	1562	c.1065C>A	c.(1063-1065)aaC>aaA	p.N355K	LPPR4_ENST00000457765.1_Missense_Mutation_p.N297K|LPPR4_ENST00000370184.1_Missense_Mutation_p.N197K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		355					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AAGATCCCAACCGACTTTTAT	0.478																																							uc001dse.2		NA																	0				ovary(3)	3						c.(1063-1065)AAC>AAA		plasticity related gene 1							147.0	144.0	145.0					1																	99771339		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771339C>A																												ENST00000370185.3:c.1065C>A	1.37:g.99771339C>A	ENSP00000359204:p.Asn355Lys					LPPR4_uc010oue.1_Missense_Mutation_p.N297K	p.N355K	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1171	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	355					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1065C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	6.603	0.479671	0.12581	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.21932	2.57;2.54;1.98	5.62	1.21	0.21127	.	3.170170	0.01480	N	0.016657	T	0.05868	0.0153	N	0.22421	0.69	0.35404	D	0.79182	B;B	0.16396	0.004;0.017	B;B	0.18263	0.008;0.021	T	0.19451	-1.0305	9	.	.	.	-10.6724	9.8354	0.40966	0.0:0.5401:0.0:0.4599	.	297;355	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	355;297;355;197	ENSP00000359204:N355K;ENSP00000394913:N297K;ENSP00000359203:N197K	.	N	+	3	2	RP4-788L13.1	99543927	0.996000	0.38824	0.718000	0.30602	0.619000	0.37552	0.672000	0.25187	0.191000	0.20236	0.655000	0.94253	AAC		0.478	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			16	81	1	0	1.5739e-10	0.004007	1.87113e-10	16	81				
PLPPR4	9890	broad.mit.edu	37	1	99772332	99772332	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:99772332G>C	ENST00000370185.3	+	7	2555	c.2058G>C	c.(2056-2058)aaG>aaC	p.K686N	LPPR4_ENST00000457765.1_Missense_Mutation_p.K628N|LPPR4_ENST00000370184.1_Missense_Mutation_p.K528N	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		686					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GAGATCGCAAGAGAAGCAACA	0.512																																							uc001dse.2		NA																	0				ovary(3)	3						c.(2056-2058)AAG>AAC		plasticity related gene 1							75.0	66.0	69.0					1																	99772332		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772332G>C																												ENST00000370185.3:c.2058G>C	1.37:g.99772332G>C	ENSP00000359204:p.Lys686Asn					LPPR4_uc010oue.1_Missense_Mutation_p.K628N	p.K686N	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2164	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	686					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.2058G>C	CCDS757.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274805	0.23307	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.24723	2.42;2.4;1.84	6.02	3.12	0.35913	.	0.380519	0.31167	N	0.008126	T	0.18635	0.0447	L	0.40543	1.245	0.49582	D	0.999804	D;B	0.62365	0.991;0.002	P;B	0.59487	0.858;0.002	T	0.02553	-1.1142	9	.	.	.	-35.0688	6.3366	0.21298	0.4319:0.0:0.5681:0.0	.	628;686	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	N	686;628;528	ENSP00000359204:K686N;ENSP00000394913:K628N;ENSP00000359203:K528N	.	K	+	3	2	RP4-788L13.1	99544920	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.913000	0.39956	0.864000	0.35578	0.655000	0.94253	AAG		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			4	21	0	0	0	0.009096	0	4	21				
BCL9	607	broad.mit.edu	37	1	147091285	147091285	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:147091285C>A	ENST00000234739.3	+	8	2064	c.1324C>A	c.(1324-1326)Cca>Aca	p.P442T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	442	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ACCCTTTTCTCCAGATGAAAT	0.542			T	"""IGH@, IGL@"""	B-ALL																																		uc001epq.2		NA		Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(1324-1326)CCA>ACA		B-cell CLL/lymphoma 9							52.0	58.0	56.0					1																	147091285		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091285C>A	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1324C>A	1.37:g.147091285C>A	ENSP00000234739:p.Pro442Thr					BCL9_uc010ozr.1_Missense_Mutation_p.P368T	p.P442T	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	2064	+	all_hematologic(923;0.115)		442			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.1324C>A	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457911	0.63401	.	.	ENSG00000116128	ENST00000234739	T	0.76968	-1.06	5.47	5.47	0.80525	.	0.053350	0.85682	D	0.000000	T	0.66915	0.2838	L	0.44542	1.39	0.52099	D	0.999948	B;B	0.17667	0.023;0.023	B;B	0.23018	0.043;0.043	T	0.64664	-0.6354	10	0.72032	D	0.01	-2.5114	19.5945	0.95530	0.0:1.0:0.0:0.0	.	442;442	Q1JQ81;O00512	.;BCL9_HUMAN	T	442	ENSP00000234739:P442T	ENSP00000234739:P442T	P	+	1	0	BCL9	145557909	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.661000	0.68025	2.868000	0.98415	0.556000	0.70494	CCA		0.542	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		16	38	1	0	3.45872e-05	0.004007	3.8497e-05	16	38				
KIRREL	55243	broad.mit.edu	37	1	158064493	158064493	+	Silent	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:158064493A>G	ENST00000359209.6	+	15	1924	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A	KIRREL_ENST00000392272.2_Silent_p.A516A|KIRREL_ENST00000368172.1_Silent_p.A433A|KIRREL_ENST00000416935.2_Silent_p.A519A|KIRREL_ENST00000368173.3_Silent_p.A635A|KIRREL_ENST00000360089.4_Silent_p.A455A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	619					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTTCCAGGGCAGTGCTCTATG	0.637																																							uc001frn.3		NA																	0				ovary(1)	1						c.(1855-1857)GCA>GCG		kin of IRRE like precursor							58.0	62.0	61.0					1																	158064493		2203	4300	6503	SO:0001819	synonymous_variant	55243					integral to membrane		g.chr1:158064493A>G	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1857A>G	1.37:g.158064493A>G						KIRREL_uc010pib.1_Silent_p.A519A|KIRREL_uc009wsq.2_Silent_p.A455A|KIRREL_uc001fro.3_Silent_p.A433A|uc001frp.2_5'Flank	p.A619A	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN			15	2261	+	all_hematologic(112;0.0378)		619			Cytoplasmic (Potential).		Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	ENST00000359209.6	37	c.1857A>G	CCDS1172.2																																																																																				0.637	KIRREL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058342.3	NM_018240		7	49	0	0	0	0.001984	0	7	49				
OR6N2	81442	broad.mit.edu	37	1	158747203	158747203	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:158747203C>T	ENST00000339258.1	-	1	222	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATAGTGGTAGCTGTATACCAC	0.443																																							uc010pir.1		NA																	0					0						c.(223-225)GCT>ACT		olfactory receptor, family 6, subfamily N,							166.0	159.0	161.0					1																	158747203		2203	4300	6503	SO:0001583	missense	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747203C>T	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.223G>A	1.37:g.158747203C>T	ENSP00000344101:p.Ala75Thr						p.A75T	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	223	-	all_hematologic(112;0.0378)		75			Helical; Name=2; (Potential).		Q6IFR2	Missense_Mutation	SNP	ENST00000339258.1	37	c.223G>A	CCDS30906.1	.	.	.	.	.	.	.	.	.	.	C	0.328	-0.957815	0.02267	.	.	ENSG00000188340	ENST00000339258	T	0.00402	7.56	5.17	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38217	N	0.001764	T	0.00012	0.0000	N	0.00062	-2.325	0.30962	N	0.723579	P	0.40050	0.7	B	0.31614	0.133	T	0.00000	-1.3074	10	0.06757	T	0.87	-16.5579	4.7631	0.13118	0.1732:0.6536:0.0:0.1733	.	75	Q8NGY6	OR6N2_HUMAN	T	75	ENSP00000344101:A75T	ENSP00000344101:A75T	A	-	1	0	OR6N2	157013827	0.000000	0.05858	0.997000	0.53966	0.795000	0.44927	-0.374000	0.07484	1.417000	0.47077	-0.142000	0.14014	GCT		0.443	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			19	104	0	0	0	0.007413	0	19	104				
CRP	1401	broad.mit.edu	37	1	159683534	159683534	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:159683534G>A	ENST00000255030.5	-	2	559	c.456C>T	c.(454-456)atC>atT	p.I152I	CRP_ENST00000473196.1_5'UTR|CRP_ENST00000343919.2_Intron|CRP_ENST00000368112.1_Intron|CRP_ENST00000368111.1_Intron|CRP_ENST00000437342.1_5'UTR|CRP_ENST00000368110.1_Intron	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	152	Pentaxin.				acute-phase response (GO:0006953)|aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|complement activation, classical pathway (GO:0006958)|defense response to Gram-positive bacterium (GO:0050830)|inflammatory response (GO:0006954)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|opsonization (GO:0008228)|positive regulation of dendrite development (GO:1900006)|protein polymerization (GO:0051258)|regulation of interleukin-8 secretion (GO:2000482)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lead ion (GO:0010288)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)	calcium ion binding (GO:0005509)|cholesterol binding (GO:0015485)|choline binding (GO:0033265)|complement component C1q binding (GO:0001849)|low-density lipoprotein particle binding (GO:0030169)			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				inhaled insulin(DB05278)	CCTGCCCCAAGATGATGCTTG	0.547																																							uc001ftw.2		NA																	0				ovary(1)	1						c.(454-456)ATC>ATT		C-reactive protein, pentraxin-related precursor	Atorvastatin(DB01076)|Bezafibrate(DB01393)						252.0	252.0	252.0					1																	159683534		2203	4300	6503	SO:0001819	synonymous_variant	1401				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	g.chr1:159683534G>A	M11725	CCDS30911.1	1q23.2	2013-05-13			ENSG00000132693	ENSG00000132693			2367	protein-coding gene	gene with protein product	"""pentraxin 1"""	123260				3840479, 6857266	Standard	NM_000567		Approved	PTX1	uc001ftw.3	P02741	OTTHUMG00000035344	ENST00000255030.5:c.456C>T	1.37:g.159683534G>A						CRP_uc001ftx.1_Intron|CRP_uc001fty.1_RNA	p.I152I	NM_000567	NP_000558	P02741	CRP_HUMAN			2	560	-	all_hematologic(112;0.0429)		152			Pentaxin.		A8K078|D3DVD9|D3DVE0|Q08AK3|Q8WW75	Silent	SNP	ENST00000255030.5	37	c.456C>T	CCDS30911.1																																																																																				0.547	CRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085553.1	NM_000567		122	262	0	0	0	0.01441	0	122	262				
TAGLN2	8407	broad.mit.edu	37	1	159889539	159889539	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:159889539C>G	ENST00000368097.4	-	3	577	c.267G>C	c.(265-267)caG>caC	p.Q89H	TAGLN2_ENST00000368096.1_Missense_Mutation_p.Q110H|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.Q89H	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	89	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCTCCATCTGCTTGAAGG	0.552																																							uc001fum.1		NA																	0					0						c.(265-267)CAG>CAC		transgelin 2							201.0	186.0	191.0					1																	159889539		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159889539C>G	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.267G>C	1.37:g.159889539C>G	ENSP00000357077:p.Gln89His					CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Missense_Mutation_p.Q89H|TAGLN2_uc001fuo.1_Missense_Mutation_p.Q89H|TAGLN2_uc010piy.1_3'UTR	p.Q89H	NM_003564	NP_003555	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	317	-	all_hematologic(112;0.0597)		89			CH.		E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.267G>C	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917477	0.52546	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307;ENST00000397334	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.08	5.08	0.68730	Calponin homology domain (5);	0.000000	0.47852	U	0.000218	T	0.75627	0.3875	M	0.89840	3.065	0.51767	D	0.999938	D	0.63046	0.992	D	0.66084	0.941	T	0.80346	-0.1421	9	.	.	.	-16.4726	16.3303	0.83006	0.0:1.0:0.0:0.0	.	89	P37802	TAGL2_HUMAN	H	89;110;89;89	ENSP00000357077:Q89H;ENSP00000357076:Q110H;ENSP00000357075:Q89H;ENSP00000412429:Q89H	.	Q	-	3	2	TAGLN2	158156163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.961000	0.40432	2.521000	0.84997	0.650000	0.86243	CAG		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	NM_003564		66	138	0	0	0	0.01441	0	66	138				
PLA2G4A	5321	broad.mit.edu	37	1	186934691	186934691	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:186934691C>A	ENST00000367466.3	+	15	1882	c.1730C>A	c.(1729-1731)tCt>tAt	p.S577Y	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.S517Y	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	577	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	TTTGACTTTTCTGCAAGGCCA	0.433																																							uc001gsc.2		NA																	0				lung(2)|breast(1)	3						c.(1729-1731)TCT>TAT		cytosolic phospholipase A2, group IVA	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						160.0	148.0	152.0					1																	186934691		2203	4300	6503	SO:0001583	missense	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186934691C>A	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1730C>A	1.37:g.186934691C>A	ENSP00000356436:p.Ser577Tyr					PLA2G4A_uc010pos.1_Missense_Mutation_p.S517Y	p.S577Y	NM_024420	NP_077734	P47712	PA24A_HUMAN			15	1935	+			577	S->A: 7-fold reduced phospholipase and lysophosphatase activities. 100-fold reduced phospholipase and lysophosphatase activities; when associated with A-195.		PLA2c.		B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	37	c.1730C>A	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563018	0.65538	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	T;T	0.08546	3.08;3.08	5.59	5.59	0.84812	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.000000	0.85682	D	0.000000	T	0.38799	0.1054	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.42949	-0.9421	10	0.87932	D	0	-21.4798	18.5768	0.91158	0.0:1.0:0.0:0.0	.	517;577	E7EU42;P47712	.;PA24A_HUMAN	Y	577;517	ENSP00000356436:S577Y;ENSP00000406892:S517Y	ENSP00000356436:S577Y	S	+	2	0	PLA2G4A	185201314	1.000000	0.71417	1.000000	0.80357	0.268000	0.26511	7.311000	0.78958	2.641000	0.89580	0.591000	0.81541	TCT		0.433	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		6	84	1	0	5.9392e-07	0.001168	6.76752e-07	6	84				
DISP1	84976	broad.mit.edu	37	1	223176456	223176456	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:223176456G>A	ENST00000284476.6	+	8	1881	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	573	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGGAGCAGATGATGCTTTTGT	0.403																																							uc001hnu.1		NA																	0					0						c.(1717-1719)GAT>AAT		dispatched A							154.0	147.0	149.0					1																	223176456		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176456G>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1717G>A	1.37:g.223176456G>A	ENSP00000284476:p.Asp573Asn						p.D573N	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	1864	+			573			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1717G>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.361921	0.82353	.	.	ENSG00000154309	ENST00000284476	D	0.91407	-2.84	5.76	5.76	0.90799	Sterol-sensing domain (1);	0.041661	0.85682	D	0.000000	D	0.95468	0.8528	M	0.83953	2.67	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.93559	0.6893	10	0.27785	T	0.31	-29.0955	19.9738	0.97296	0.0:0.0:1.0:0.0	.	573	Q96F81	DISP1_HUMAN	N	573	ENSP00000284476:D573N	ENSP00000284476:D573N	D	+	1	0	DISP1	221243079	1.000000	0.71417	0.925000	0.36789	0.997000	0.91878	9.869000	0.99810	2.732000	0.93576	0.655000	0.94253	GAT		0.403	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		32	60	0	0	0	0.008361	0	32	60				
OBSCN	84033	broad.mit.edu	37	1	228522247	228522247	+	Splice_Site	SNP	T	T	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:228522247T>G	ENST00000422127.1	+	60	16131		c.e60+2		OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000570156.2_Splice_Site	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCATCAGGTGAGGCAGCCC	0.662																																							uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.e60+2		obscurin, cytoskeletal calmodulin and							18.0	23.0	21.0					1																	228522247		2060	4190	6250	SO:0001630	splice_region_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228522247T>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16087+2T>G	1.37:g.228522247T>G						OBSCN_uc001hsn.2_Splice_Site_p.D5363_splice|OBSCN_uc001hsr.1_5'Flank	p.D5363_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			60	16131	+		Prostate(94;0.0405)						Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.16087_splice	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	T	10.13	1.265949	0.23136	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4766	0.55819	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	OBSCN	226588870	1.000000	0.71417	0.995000	0.50966	0.126000	0.20510	2.612000	0.46343	2.251000	0.74343	0.482000	0.46254	.		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	Intron	2	3	0	0	0	0.004672	0	2	3				
SPRTN	83932	broad.mit.edu	37	1	231487114	231487114	+	Missense_Mutation	SNP	C	C	T	rs201636359		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:231487114C>T	ENST00000295050.7	+	4	851	c.515C>T	c.(514-516)cCg>cTg	p.P172L	SPRTN_ENST00000469904.1_3'UTR|SPRTN_ENST00000391858.4_Missense_Mutation_p.P172L|SPRTN_ENST00000008440.9_Missense_Mutation_p.P129L	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain	172	SprT-like.				cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										TGCAATGGGCCGTGCCAGCAC	0.498																																						Esophageal Squamous(43;65 937 18756 45127 47168)	uc001hur.2		NA																	0					0						c.(514-516)CCG>CTG		hypothetical protein LOC83932 isoform a							70.0	70.0	70.0					1																	231487114		2203	4300	6503	SO:0001583	missense	83932				DNA repair	nuclear speck	DNA binding|metal ion binding	g.chr1:231487114C>T	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.515C>T	1.37:g.231487114C>T	ENSP00000295050:p.Pro172Leu					C1orf124_uc001hus.2_Missense_Mutation_p.P172L|C1orf124_uc001hut.2_Missense_Mutation_p.P129L	p.P172L	NM_032018	NP_114407	Q9H040	CA124_HUMAN			4	963	+	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	172					B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	Missense_Mutation	SNP	ENST00000295050.7	37	c.515C>T	CCDS1594.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155730	0.57259	.	.	ENSG00000010072	ENST00000391858;ENST00000295050;ENST00000008440;ENST00000545269;ENST00000366644	T;T;T	0.42513	0.97;0.97;0.97	5.74	5.74	0.90152	Domain of unknown function SprT-like (2);	0.000000	0.85682	D	0.000000	T	0.67859	0.2938	M	0.85710	2.77	0.80722	D	1	D;P;D	0.89917	1.0;0.72;0.989	D;B;P	0.65140	0.932;0.179;0.845	T	0.64542	-0.6383	10	0.29301	T	0.29	-25.3878	20.2835	0.98531	0.0:1.0:0.0:0.0	.	129;172;172	B1AKT0;Q9H040-2;Q9H040	.;.;CA124_HUMAN	L	172;172;129;129;68	ENSP00000375731:P172L;ENSP00000295050:P172L;ENSP00000355604:P68L	ENSP00000008440:P129L	P	+	2	0	C1orf124	229553737	1.000000	0.71417	0.944000	0.38274	0.047000	0.14425	7.776000	0.85560	2.873000	0.98535	0.643000	0.83706	CCG		0.498	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092858.1	NM_032018		13	50	0	0	0	0.001855	0	13	50				
RBM34	23029	broad.mit.edu	37	1	235318412	235318412	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:235318412C>T	ENST00000408888.3	-	4	611	c.381G>A	c.(379-381)gcG>gcA	p.A127A	RBM34_ENST00000366606.3_Silent_p.A122A			P42696	RBM34_HUMAN	RNA binding motif protein 34	127						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			AATCAGCACTCGCTAGAGCGC	0.393																																							uc001hwn.2		NA																	0				central_nervous_system(1)	1						c.(379-381)GCG>GCA		RNA binding motif protein 34 isoform 1							116.0	98.0	104.0					1																	235318412		1817	4083	5900	SO:0001819	synonymous_variant	23029					nucleolus	nucleotide binding|RNA binding	g.chr1:235318412C>T		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.381G>A	1.37:g.235318412C>T						RBM34_uc001hwo.2_RNA|ARID4B_uc001hwp.2_RNA|RBM34_uc010pxp.1_Silent_p.A127A	p.A127A	NM_015014	NP_055829	P42696	RBM34_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)		4	411	-	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	127					A8K8J7|Q8N2Z8|Q9H5A1	Silent	SNP	ENST00000408888.3	37	c.381G>A	CCDS41477.2																																																																																				0.393	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014		22	33	0	0	0	0.00333	0	22	33				
FMN2	56776	broad.mit.edu	37	1	240601508	240601508	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:240601508G>A	ENST00000319653.9	+	16	5288	c.5058G>A	c.(5056-5058)gaG>gaA	p.E1686E	FMN2_ENST00000545751.1_Silent_p.E282E	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1686	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TTCTACAAGAGAGGTAGGTAT	0.388																																							uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(5056-5058)GAG>GAA		formin 2							97.0	97.0	97.0					1																	240601508		2203	4300	6503	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240601508G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5058G>A	1.37:g.240601508G>A						FMN2_uc010pye.1_Silent_p.E1690E|FMN2_uc010pyg.1_Silent_p.E282E	p.E1686E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5283	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1686			Potential.|FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.5058G>A	CCDS31069.2																																																																																				0.388	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		9	55	0	0	0	0.004482	0	9	55				
MAP1LC3C	440738	broad.mit.edu	37	1	242162301	242162301	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:242162301G>C	ENST00000357246.3	-	1	74	c.10C>G	c.(10-12)Cca>Gca	p.P4A		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	4					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)				endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ATTTTCTGTGGAGGCGGCATT	0.468											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001hzk.2		NA																	0				ovary(1)	1						c.(10-12)CCA>GCA		microtubule-associated protein 1 light chain 3							75.0	78.0	77.0					1																	242162301		2202	4300	6502	SO:0001583	missense	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242162301G>C	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.10C>G	1.37:g.242162301G>C	ENSP00000349785:p.Pro4Ala		OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2432		p.P4A	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	85	-			4					A0PJY8|A2RUP0	Missense_Mutation	SNP	ENST00000357246.3	37	c.10C>G	CCDS31074.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829522	0.16749	.	.	ENSG00000197769	ENST00000357246	T	0.39787	1.06	3.95	3.95	0.45737	.	0.716171	0.13236	N	0.403252	T	0.25531	0.0621	N	0.22421	0.69	0.09310	N	1	B	0.27791	0.189	B	0.22386	0.039	T	0.10291	-1.0636	10	0.16896	T	0.51	.	9.0423	0.36325	0.0:0.0:0.6492:0.3508	.	4	Q9BXW4	MLP3C_HUMAN	A	4	ENSP00000349785:P4A	ENSP00000349785:P4A	P	-	1	0	MAP1LC3C	240228924	0.980000	0.34600	0.560000	0.28344	0.858000	0.48976	2.511000	0.45476	2.034000	0.60081	0.637000	0.83480	CCA		0.468	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		22	56	0	0	0	0.00278	0	22	56				
OR2W3	343171	broad.mit.edu	37	1	248059253	248059253	+	Missense_Mutation	SNP	G	G	T	rs141229039	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:248059253G>T	ENST00000360358.3	+	1	365	c.365G>T	c.(364-366)cGg>cTg	p.R122L	OR2W3_ENST00000537741.1_Missense_Mutation_p.R122L	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCTATGACCGGTGTGTGGCT	0.602																																							uc001idp.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(364-366)CGG>CTG		olfactory receptor, family 2, subfamily W,							114.0	88.0	97.0					1																	248059253		2203	4300	6503	SO:0001583	missense	343171				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248059253G>T	N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.365G>T	1.37:g.248059253G>T	ENSP00000353516:p.Arg122Leu					OR2W3_uc010pzb.1_Missense_Mutation_p.R122L	p.R122L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	634	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		122			Cytoplasmic (Potential).		Q6IF06|Q8NG86	Missense_Mutation	SNP	ENST00000360358.3	37	c.365G>T	CCDS31099.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935967	0.73442	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.77358	-1.09;-1.09	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000026	D	0.91546	0.7330	H	0.97962	4.115	0.50813	D	0.999892	D	0.57899	0.981	P	0.57204	0.815	D	0.94409	0.7630	10	0.87932	D	0	.	18.7109	0.91656	0.0:0.0:1.0:0.0	.	122	Q7Z3T1	OR2W3_HUMAN	L	122	ENSP00000445853:R122L;ENSP00000353516:R122L	ENSP00000353516:R122L	R	+	2	0	OR2W3	246125876	0.938000	0.31826	0.093000	0.20910	0.251000	0.25915	4.084000	0.57650	2.755000	0.94549	0.603000	0.83216	CGG		0.602	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096861.1	NM_001001957		21	48	1	0	6.33239e-15	0.010504	7.84399e-15	21	48				
OR2G6	391211	broad.mit.edu	37	1	248685664	248685664	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:248685664G>A	ENST00000343414.4	+	1	749	c.717G>A	c.(715-717)ggG>ggA	p.G239G		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGGGACCTGTTCGT	0.458																																							uc001ien.1		NA																	0				ovary(2)|skin(1)	3						c.(715-717)GGG>GGA		olfactory receptor, family 2, subfamily G,							109.0	110.0	110.0					1																	248685664		2203	4300	6503	SO:0001819	synonymous_variant	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685664G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.717G>A	1.37:g.248685664G>A							p.G239G	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	717	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	239			Helical; Name=6; (Potential).		B2RP33	Silent	SNP	ENST00000343414.4	37	c.717G>A	CCDS31119.1																																																																																				0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		22	64	0	0	0	0.010504	0	22	64				
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:8006790C>T	ENST00000344293.5	+	3	1523	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	439					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468																																							uc010qbd.1		NA																	0				ovary(1)	1						c.(1315-1317)TCC>TCT		RNA polymerase II transcription factor TAFII140							79.0	80.0	80.0					10																	8006790		1911	4128	6039	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006790C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1317C>T	10.37:g.8006790C>T							p.S439S	NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN			3	1317	+			439					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.1317C>T	CCDS41487.1																																																																																				0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		25	98	0	0	0	0.00333	0	25	98				
SUV39H2	79723	broad.mit.edu	37	10	14939122	14939122	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:14939122G>A	ENST00000354919.6	+	3	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E	SUV39H2_ENST00000313519.5_Missense_Mutation_p.G92E|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	152					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AATCATAAAGGAATGATATTT	0.383																																							uc001inh.2		NA																	0				breast(2)|ovary(1)	3						c.(274-276)GGA>GAA		suppressor of variegation 3-9 homolog 2							79.0	75.0	76.0					10																	14939122		2203	4300	6503	SO:0001583	missense	79723				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	g.chr10:14939122G>A	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.455G>A	10.37:g.14939122G>A	ENSP00000346997:p.Gly152Glu					SUV39H2_uc001ing.2_Intron|SUV39H2_uc001ini.2_Missense_Mutation_p.G92E|SUV39H2_uc001inj.2_Missense_Mutation_p.G92E	p.G92E	NM_024670	NP_078946	Q9H5I1	SUV92_HUMAN			2	331	+			152					D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	ENST00000354919.6	37	c.275G>A	CCDS53494.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870080	0.72065	.	.	ENSG00000152455	ENST00000354919;ENST00000313519;ENST00000420416;ENST00000412254	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.84005	0.5377	M	0.81802	2.56	0.58432	D	0.99999	D	0.69078	0.997	D	0.81914	0.995	T	0.79631	-0.1723	10	0.02654	T	1	.	16.3909	0.83537	0.0:0.1314:0.8686:0.0	.	152	Q9H5I1	SUV92_HUMAN	E	152;92;92;92	ENSP00000346997:G152E;ENSP00000319208:G92E;ENSP00000392201:G92E	ENSP00000319208:G92E	G	+	2	0	SUV39H2	14979128	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.343000	0.72986	2.880000	0.98712	0.650000	0.86243	GGA		0.383	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670		12	35	0	0	0	0.010729	0	12	35				
PTER	9317	broad.mit.edu	37	10	16547037	16547037	+	Silent	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:16547037A>G	ENST00000378000.1	+	5	963	c.717A>G	c.(715-717)aaA>aaG	p.K239K	PTER_ENST00000423462.2_Intron|PTER_ENST00000535784.2_Silent_p.K239K|PTER_ENST00000298942.3_Silent_p.K239K	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	239					catabolic process (GO:0009056)|epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TTGATAAGAAAGAGCTCTTGG	0.393																																					Ovarian(2;46 150 15648 38137 47908)	Ovarian(2;46 150 15648 38137 47908)	uc001iog.1		NA																	0				ovary(2)	2						c.(715-717)AAA>AAG		phosphotriesterase related							189.0	180.0	183.0					10																	16547037		2203	4300	6503	SO:0001819	synonymous_variant	9317				catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding	g.chr10:16547037A>G	BC015092	CCDS7111.1, CCDS58070.1, CCDS73070.1	10p12	2003-11-05			ENSG00000165983	ENSG00000165983			9590	protein-coding gene	gene with protein product		604446				9925913	Standard	NM_001001484		Approved		uc001ioi.2	Q96BW5	OTTHUMG00000017737	ENST00000378000.1:c.717A>G	10.37:g.16547037A>G						PTER_uc001ioh.1_Silent_p.K239K|PTER_uc001ioi.1_Silent_p.K239K|PTER_uc009xjp.1_Intron	p.K239K	NM_030664	NP_109589	Q96BW5	PTER_HUMAN			5	924	+			239					B0YJ77|B3KTF5|D3DRU0|Q9BY46	Silent	SNP	ENST00000378000.1	37	c.717A>G	CCDS7111.1																																																																																				0.393	PTER-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047001.2	NM_030664		25	71	0	0	0	0.004656	0	25	71				
MLLT10	8028	broad.mit.edu	37	10	22016856	22016856	+	Splice_Site	SNP	C	C	G	rs138169869		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:22016856C>G	ENST00000307729.7	+	16	2240	c.2062C>G	c.(2062-2064)Cga>Gga	p.R688G	MLLT10_ENST00000377072.3_Splice_Site_p.R704G|MLLT10_ENST00000446906.2_Splice_Site_p.R688G|MLLT10_ENST00000377059.3_Splice_Site_p.R688G			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	688					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTCTCGCCACGGTAAGCGCT	0.423			T	"""MLL, PICALM, CDK6"""	AL																																		uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(2110-2112)CGA>GGA		myeloid/lymphoid or mixed-lineage leukemia							59.0	56.0	57.0					10																	22016856		2203	4300	6503	SO:0001630	splice_region_variant	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22016856C>G	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2063+1C>G	10.37:g.22016856C>G						MLLT10_uc001iqt.2_Missense_Mutation_p.R688G|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.R688G|MLLT10_uc001ira.2_Missense_Mutation_p.R145G|MLLT10_uc001irb.2_RNA	p.R704G	NM_004641	NP_004632	P55197	AF10_HUMAN			17	2458	+			704					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2110C>G	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225763	0.58668	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65	5.82	1.54	0.23209	.	0.061993	0.64402	D	0.000006	D	0.96012	0.8701	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.69078	0.995;0.997;0.993;0.997	P;P;D;P	0.74023	0.878;0.823;0.982;0.823	D	0.94987	0.8131	10	0.66056	D	0.02	.	15.4973	0.75666	0.5029:0.4971:0.0:0.0	.	383;688;688;704	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	G	704;688;688;523;688;347;346	ENSP00000366272:R704G;ENSP00000401406:R688G;ENSP00000307411:R688G;ENSP00000366258:R688G	ENSP00000307411:R688G	R	+	1	2	MLLT10	22056862	0.551000	0.26497	0.812000	0.32479	0.968000	0.65278	0.095000	0.15127	0.003000	0.14656	0.650000	0.86243	CGA		0.423	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1		Missense_Mutation	7	14	0	0	0	0.00308	0	7	14				
ANKRD30A	91074	broad.mit.edu	37	10	37508673	37508673	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:37508673G>A	ENST00000602533.1	+	34	3964	c.3865G>A	c.(3865-3867)Gac>Aac	p.D1289N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D1289N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.D1408N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1345					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAGAAAGCTGACAACAAAAG	0.318																																							uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(3865-3867)GAC>AAC		ankyrin repeat domain 30A							46.0	43.0	44.0					10																	37508673		1842	4091	5933	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508673G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3865G>A	10.37:g.37508673G>A	ENSP00000473551:p.Asp1289Asn						p.D1289N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3964	+			1345					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3865G>A		.	.	.	.	.	.	.	.	.	.	g	10.81	1.454456	0.26161	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.14391	2.51;2.51	2.95	-0.469	0.12142	.	.	.	.	.	T	0.07279	0.0184	N	0.17474	0.49	0.09310	N	1	B	0.26081	0.141	B	0.15052	0.012	T	0.32214	-0.9915	9	0.72032	D	0.01	.	5.6764	0.17751	0.6017:0.0:0.3983:0.0	.	1345	Q9BXX3	AN30A_HUMAN	N	1289;1408	ENSP00000354432:D1289N;ENSP00000363792:D1408N	ENSP00000354432:D1289N	D	+	1	0	ANKRD30A	37548679	0.003000	0.15002	0.001000	0.08648	0.019000	0.09904	0.785000	0.26830	0.026000	0.15269	-0.471000	0.05019	GAC		0.318	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		4	22	0	0	0	0.009096	0	4	22				
ZFAND4	93550	broad.mit.edu	37	10	46111945	46111945	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:46111945C>A	ENST00000344646.5	-	10	2338	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	ZFAND4_ENST00000374366.3_Missense_Mutation_p.G634V|ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	708							zinc ion binding (GO:0008270)										GTATCTCCTCCCTGCACTCTT	0.423																																							uc001jcp.3		NA																	0					0						c.(2122-2124)GGG>GTG		AN1, ubiquitin-like, homolog							181.0	159.0	166.0					10																	46111945		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46111945C>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.2123G>T	10.37:g.46111945C>A	ENSP00000339484:p.Gly708Val					ANUBL1_uc001jcl.3_Missense_Mutation_p.G228V|ANUBL1_uc001jcm.3_Missense_Mutation_p.G708V|ANUBL1_uc009xmu.2_Missense_Mutation_p.G634V|ANUBL1_uc001jcn.3_Missense_Mutation_p.G634V|ANUBL1_uc001jco.3_3'UTR	p.G708V	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			10	2365	-			708			AN1-type.		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.2123G>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513259	0.85389	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.30448	1.53;1.55	5.86	5.86	0.93980	Zinc finger, AN1-type (2);	0.124980	0.53938	D	0.000060	T	0.64713	0.2623	M	0.90542	3.125	0.80722	D	1	D	0.61697	0.99	D	0.77004	0.989	T	0.70949	-0.4733	10	0.87932	D	0	-19.3523	17.6957	0.88281	0.0:1.0:0.0:0.0	.	708	Q86XD8	ANUB1_HUMAN	V	708;634;590	ENSP00000339484:G708V;ENSP00000363486:G634V	ENSP00000339484:G708V	G	-	2	0	ANUBL1	45431951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.452000	0.80683	2.776000	0.95493	0.655000	0.94253	GGG		0.423	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		35	22	1	0	1.26612e-14	0.003271	1.56331e-14	35	22				
PCDH15	65217	broad.mit.edu	37	10	55566757	55566757	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:55566757T>C	ENST00000373965.2	-	36	5031	c.4637A>G	c.(4636-4638)aAt>aGt	p.N1546S	PCDH15_ENST00000414778.1_Missense_Mutation_p.N1543S	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATATATATATTGCCGTTGAT	0.483										HNSCC(58;0.16)																													uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4630-4632)AAT>AGT		protocadherin 15 isoform CD3-1 precursor							80.0	72.0	74.0					10																	55566757		1568	3581	5149	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566757T>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4637A>G	10.37:g.55566757T>C	ENSP00000363076:p.Asn1546Ser	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.N1539S	p.N1544S	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5026	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4631A>G		.	.	.	.	.	.	.	.	.	.	T	16.13	3.034725	0.54896	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.60548	0.18;0.18	5.86	5.86	0.93980	.	.	.	.	.	T	0.49236	0.1545	L	0.48362	1.52	0.80722	D	1	P;P	0.43750	0.816;0.816	B;B	0.33121	0.158;0.158	T	0.57957	-0.7721	9	0.87932	D	0	.	15.9283	0.79639	0.0:0.0:0.0:1.0	.	1537;1543	C6ZEF7;C9J4F3	.;.	S	1546;1543;1539	ENSP00000363076:N1546S;ENSP00000410304:N1543S	ENSP00000363076:N1546S	N	-	2	0	PCDH15	55236763	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.791000	0.62460	2.240000	0.73641	0.533000	0.62120	AAT		0.483	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		9	36	0	0	0	0.006214	0	9	36				
ANK3	288	broad.mit.edu	37	10	61844939	61844939	+	Missense_Mutation	SNP	G	G	A	rs371069694		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:61844939G>A	ENST00000280772.2	-	31	4012	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	ANK3_ENST00000503366.1_Missense_Mutation_p.S1275F|ANK3_ENST00000373827.2_Missense_Mutation_p.S1268F|ANK3_ENST00000355288.2_Missense_Mutation_p.S408F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1274	UPA domain. {ECO:0000250}.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTGTAAAGGAGACACAATC	0.388																																							uc001jky.2		NA																	0				skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(3820-3822)TCC>TTC		ankyrin 3 isoform 1							73.0	70.0	71.0					10																	61844939		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61844939G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.3821C>T	10.37:g.61844939G>A	ENSP00000280772:p.Ser1274Phe					ANK3_uc001jkw.2_Missense_Mutation_p.S408F|ANK3_uc009xpa.2_Missense_Mutation_p.S408F|ANK3_uc001jkx.2_Missense_Mutation_p.S452F|ANK3_uc010qih.1_Missense_Mutation_p.S1275F|ANK3_uc001jkz.3_Missense_Mutation_p.S1268F|ANK3_uc001jla.1_Missense_Mutation_p.S340F|ANK3_uc001jlb.1_Missense_Mutation_p.S792F|ANK3_uc001jkv.2_5'Flank	p.S1274F	NM_020987	NP_066267	Q12955	ANK3_HUMAN			31	4013	-			1274					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.3821C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152147	0.94645	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	6.17	6.17	0.99709	.	0.000000	0.41823	D	0.000811	T	0.65883	0.2734	M	0.88906	2.99	0.80722	D	1	P;D;D;D;D;D;D	0.89917	0.556;0.999;0.999;1.0;0.999;0.999;0.998	B;D;D;D;D;D;D	0.91635	0.274;0.996;0.997;0.993;0.996;0.999;0.991	T	0.69308	-0.5179	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1275;408;807;1268;1274;509;408	E9PE32;A8KA62;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;ANK3_HUMAN;.;.	F	1274;1268;408;408;1275;1254;509;909;909;407;807	ENSP00000280772:S1274F;ENSP00000362933:S1268F;ENSP00000347436:S408F;ENSP00000425236:S1275F	ENSP00000280772:S1274F	S	-	2	0	ANK3	61514945	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.841000	0.99482	2.941000	0.99782	0.655000	0.94253	TCC		0.388	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		20	4	0	0	0	0.012319	0	20	4				
MYPN	84665	broad.mit.edu	37	10	69959140	69959140	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:69959140C>T	ENST00000358913.5	+	17	3789	c.3301C>T	c.(3301-3303)Ccc>Tcc	p.P1101S	MYPN_ENST00000354393.2_Missense_Mutation_p.P826S|MYPN_ENST00000540630.1_Missense_Mutation_p.P1101S	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1101	Ig-like 4.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGTTTACCGCCCCCGGAGCT	0.507																																							uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(3301-3303)CCC>TCC		myopalladin							58.0	50.0	53.0					10																	69959140		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69959140C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3301C>T	10.37:g.69959140C>T	ENSP00000351790:p.Pro1101Ser					MYPN_uc001jnn.3_Missense_Mutation_p.P826S|MYPN_uc001jno.3_Missense_Mutation_p.P1101S|MYPN_uc009xpt.2_Missense_Mutation_p.P1101S|MYPN_uc010qit.1_Missense_Mutation_p.P807S|MYPN_uc010qiu.1_RNA	p.P1101S	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			18	3486	+			1101			Ig-like 4.|Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.3301C>T	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123322	0.20959	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.66638	-0.22;-0.22;-0.22	5.38	4.45	0.53987	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.468210	0.23440	N	0.048150	T	0.63733	0.2536	L	0.53780	1.695	0.26924	N	0.966607	B;B;B	0.33694	0.421;0.017;0.109	B;B;B	0.37601	0.254;0.005;0.077	T	0.57365	-0.7824	9	.	.	.	.	13.6569	0.62344	0.4112:0.5888:0.0:0.0	.	1101;826;1101	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	S	826;826;1101;1101	ENSP00000346369:P826S;ENSP00000351790:P1101S;ENSP00000441668:P1101S	.	P	+	1	0	MYPN	69629146	0.941000	0.31946	0.958000	0.39756	0.961000	0.63080	2.104000	0.41815	1.420000	0.47138	0.655000	0.94253	CCC		0.507	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		10	20	0	0	0	0.008291	0	10	20				
SLC29A3	55315	broad.mit.edu	37	10	73122032	73122032	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:73122032C>T	ENST00000373189.5	+	6	1147	c.1095C>T	c.(1093-1095)ctC>ctT	p.L365L	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	365					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCCGGCAGCTCACCGCCTGGA	0.597																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	Esophageal Squamous(200;1319 2142 18949 31248 39672)	uc001jrr.3		NA																	0					0						c.(1093-1095)CTC>CTT		solute carrier family 29 (nucleoside							148.0	140.0	143.0					10																	73122032		2203	4300	6503	SO:0001819	synonymous_variant	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122032C>T	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1095C>T	10.37:g.73122032C>T						SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Silent_p.L219L|SLC29A3_uc001jrt.3_Silent_p.L159L|SLC29A3_uc001jru.3_Silent_p.L177L	p.L365L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN			6	1152	+			365			Cytoplasmic (Potential).		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Silent	SNP	ENST00000373189.5	37	c.1095C>T	CCDS7310.1																																																																																				0.597	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		32	146	0	0	0	0.008361	0	32	146				
CYP2C19	1557	broad.mit.edu	37	10	96534866	96534866	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:96534866A>G	ENST00000371321.3	+	2	302	c.220A>G	c.(220-222)Atg>Gtg	p.M74V	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	74			M -> T (in dbSNP:rs28399505). {ECO:0000269|PubMed:15469410}.		arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	CCTGGAACGCATGGTGGTGCT	0.453																																							uc010qnz.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(220-222)ATG>GTG		cytochrome P450, family 2, subfamily C,	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						210.0	188.0	196.0					10																	96534866		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96534866A>G	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.220A>G	10.37:g.96534866A>G	ENSP00000360372:p.Met74Val					CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.1_Missense_Mutation_p.M52V	p.M74V	NM_000769	NP_000760	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	2	220	+		Colorectal(252;0.09)	74					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.220A>G	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.098960	0.00033	.	.	ENSG00000165841	ENST00000371321	T	0.66815	-0.23	3.74	-0.0226	0.13947	.	0.784300	0.11068	U	0.603303	T	0.23210	0.0561	N	0.00335	-1.625	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36237	-0.9756	10	0.02654	T	1	.	6.7831	0.23657	0.5204:0.0:0.4796:0.0	.	74	P33261	CP2CJ_HUMAN	V	74	ENSP00000360372:M74V	ENSP00000360372:M74V	M	+	1	0	CYP2C19	96524856	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	1.032000	0.30178	0.044000	0.15775	0.333000	0.21579	ATG		0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		52	28	0	0	0	0.01441	0	52	28				
CHUK	1147	broad.mit.edu	37	10	101960516	101960516	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:101960516C>A	ENST00000370397.7	-	15	1677	c.1591G>T	c.(1591-1593)Gag>Tag	p.E531*		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	531					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ATCTGATCCTCCAGGTATCCA	0.398																																					Ovarian(159;52 1904 10536 35305 37148)	Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(1591-1593)GAG>TAG		conserved helix-loop-helix ubiquitous kinase							116.0	110.0	112.0					10																	101960516		2203	4300	6503	SO:0001587	stop_gained	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101960516C>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1591G>T	10.37:g.101960516C>A	ENSP00000359424:p.Glu531*						p.E531*	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	15	1646	-		Colorectal(252;0.117)	531					O14666|Q13132|Q5W0I4|Q92467	Nonsense_Mutation	SNP	ENST00000370397.7	37	c.1591G>T	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	38	6.744244	0.97805	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.84	4.95	0.65309	.	0.046488	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-10.6932	12.709	0.57080	0.0:0.9207:0.0:0.0793	.	.	.	.	X	531	.	ENSP00000359424:E531X	E	-	1	0	CHUK	101950506	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.246000	0.78247	1.482000	0.48325	0.650000	0.86243	GAG		0.398	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		7	51	1	0	1.26484e-09	0.00308	1.49446e-09	7	51				
PAX2	5076	broad.mit.edu	37	10	102546746	102546746	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:102546746G>C	ENST00000428433.1	+	6	1213	c.663G>C	c.(661-663)ttG>ttC	p.L221F	PAX2_ENST00000553492.1_Intron|PAX2_ENST00000556085.1_Intron|PAX2_ENST00000370296.2_Missense_Mutation_p.L221F|PAX2_ENST00000361791.3_Intron|PAX2_ENST00000355243.3_Intron	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	221					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GTGGAGGTTTGCATCTGGTCT	0.512											OREG0002760	type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay																											uc001krk.3		NA																	0					0						c.(661-663)TTG>TTC		paired box protein 2 isoform e							120.0	114.0	116.0					10																	102546746		1975	4164	6139	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102546746G>C		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.663G>C	10.37:g.102546746G>C	ENSP00000396259:p.Leu221Phe		OREG0002760	type=REGULATORY REGION|Gene=PAX2(intragenic)|Dataset=Vista Enhancers|EvidenceSubtype=In-vivo LacZ Expression Assay	1367	PAX2_uc001krl.3_Intron|PAX2_uc001krm.3_Missense_Mutation_p.L221F|PAX2_uc001kro.3_Intron|PAX2_uc001krn.3_Intron|PAX2_uc010qps.1_Intron|PAX2_uc001krp.1_Intron	p.L221F	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	6	1213	+		Colorectal(252;0.234)	221					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.663G>C	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	2.267	-0.367908	0.05069	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433	D;D	0.96802	-4.04;-4.13	5.41	2.23	0.28157	.	0.293599	0.18627	N	0.135700	D	0.88474	0.6446	N	0.14661	0.345	0.25416	N	0.988313	B	0.02656	0.0	B	0.01281	0.0	T	0.76906	-0.2786	9	.	.	.	.	4.1174	0.10088	0.1736:0.0:0.502:0.3244	.	221	Q02962	PAX2_HUMAN	F	113;221;221	ENSP00000359319:L221F;ENSP00000396259:L221F	.	L	+	3	2	PAX2	102536736	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.332000	0.19751	0.574000	0.29417	0.655000	0.94253	TTG		0.512	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				16	17	0	0	0	0.004007	0	16	17				
CCDC186	55088	broad.mit.edu	37	10	115895981	115895981	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr10:115895981C>T	ENST00000369287.3	-	8	1617	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	C10orf118_ENST00000543782.1_Missense_Mutation_p.E49K	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		451										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GCATCAAGCTCATTTGATTTA	0.353																																							uc001lbb.1		NA																	0				ovary(2)	2						c.(1351-1353)GAG>AAG		CTCL tumor antigen L14-2							141.0	136.0	138.0					10																	115895981		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115895981C>T																												ENST00000369287.3:c.1351G>A	10.37:g.115895981C>T	ENSP00000358293:p.Glu451Lys					C10orf118_uc009xyd.1_Missense_Mutation_p.E49K|C10orf118_uc001lbc.1_Missense_Mutation_p.E451K|C10orf118_uc009xye.1_RNA	p.E451K	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	8	2003	-		Colorectal(252;0.172)|Breast(234;0.188)	451			Potential.		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.1351G>A	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	C	33	5.212154	0.95069	.	.	ENSG00000165813	ENST00000369287;ENST00000543782;ENST00000430353	T;T	0.58358	0.34;0.34	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.70885	0.3275	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.85130	0.99;0.997	T	0.67325	-0.5699	10	0.26408	T	0.33	.	17.2665	0.87088	0.0:1.0:0.0:0.0	.	49;451	F6VCB7;Q7Z3E2	.;CJ118_HUMAN	K	451;49;557	ENSP00000358293:E451K;ENSP00000441576:E49K	ENSP00000358293:E451K	E	-	1	0	C10orf118	115885971	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.780000	0.85658	2.475000	0.83589	0.543000	0.68304	GAG		0.353	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			5	40	0	0	0	0.000602	0	5	40				
OR52B4	143496	broad.mit.edu	37	11	4388806	4388806	+	Silent	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:4388806G>C	ENST00000408920.2	-	1	810	c.720C>G	c.(718-720)ctC>ctG	p.L240L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	240					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAATGTGTTGAGAGCTTTGT	0.453																																							uc010qye.1		NA																	0					0						c.(718-720)CTC>CTG		olfactory receptor, family 52, subfamily B,							123.0	130.0	127.0					11																	4388806		2080	4223	6303	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4388806G>C	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.720C>G	11.37:g.4388806G>C							p.L240L	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	720	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	240			Helical; Name=6; (Potential).		A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.720C>G	CCDS41609.1																																																																																				0.453	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		13	29	0	0	0	0.013537	0	13	29				
MMP26	56547	broad.mit.edu	37	11	4825663	4825663	+	Intron	SNP	T	T	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:4825663T>A	ENST00000380390.1	+	1	72				OR52R1_ENST00000380382.1_Missense_Mutation_p.Y62F|OR52R1_ENST00000356069.2_5'Flank|MMP26_ENST00000477339.1_Intron			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CTGCAGATGATAACAATCAAA	0.403																																							uc010qym.1		NA																	0				skin(1)	1						c.(184-186)TAT>TTT		olfactory receptor, family 52, subfamily R,							98.0	95.0	96.0					11																	4825663		2201	4298	6499	SO:0001627	intron_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825663T>A	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-145+37092T>A	11.37:g.4825663T>A							p.Y62F	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	185	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	Error:Variant_position_missing_in_Q8NGF1_after_alignment					Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	ENST00000380390.1	37	c.185A>T	CCDS7752.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760550	0.49468	.	.	ENSG00000176937	ENST00000380382	T	0.00367	7.78	5.25	-1.87	0.07737	.	.	.	.	.	T	0.00178	0.0005	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11690	-1.0577	5	.	.	.	.	3.73	0.08489	0.3666:0.1708:0.0:0.4626	.	.	.	.	F	62	ENSP00000369742:Y62F	.	Y	-	2	0	OR52R1	4782239	0.002000	0.14202	0.000000	0.03702	0.224000	0.24922	-0.014000	0.12656	-0.084000	0.12595	-0.417000	0.06048	TAT		0.403	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3	NM_021801		9	26	0	0	0	0.006214	0	9	26				
OR51B5	282763	broad.mit.edu	37	11	5364617	5364617	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:5364617G>A	ENST00000300773.2	-	1	192	c.138C>T	c.(136-138)ctC>ctT	p.L46L	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	46					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)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTTAATGAGAAGAAGGA	0.493																																							uc001map.1		NA																	0				skin(1)	1						c.(136-138)CTC>CTT		olfactory receptor, family 51, subfamily B,							66.0	71.0	69.0					11																	5364617		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364617G>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.138C>T	11.37:g.5364617G>A						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Silent_p.L46L	p.L46L	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	138	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	46			Cytoplasmic (Potential).		B2RN59	Silent	SNP	ENST00000300773.2	37	c.138C>T	CCDS31378.1																																																																																				0.493	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		15	22	0	0	0	0.003163	0	15	22				
OR51Q1	390061	broad.mit.edu	37	11	5443687	5443687	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:5443687T>G	ENST00000300778.4	+	1	347	c.257T>G	c.(256-258)cTt>cGt	p.L86R	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCATGCAGCTTCTCTGGTTC	0.522																																							uc010qzd.1		NA																	0				ovary(1)	1						c.(256-258)CTT>CGT		olfactory receptor, family 51, subfamily Q,							162.0	146.0	152.0					11																	5443687		2201	4297	6498	SO:0001583	missense	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5443687T>G	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.257T>G	11.37:g.5443687T>G	ENSP00000300778:p.Leu86Arg					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L86R	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	257	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	86			Extracellular (Potential).		B2RNN1	Missense_Mutation	SNP	ENST00000300778.4	37	c.257T>G	CCDS31381.1	.	.	.	.	.	.	.	.	.	.	T	14.51	2.558147	0.45590	.	.	ENSG00000167360	ENST00000300778	T	0.00856	5.61	5.0	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.685017	0.13283	N	0.399579	T	0.02571	0.0078	L	0.48218	1.51	0.09310	N	1	D	0.60160	0.987	P	0.57960	0.83	T	0.48364	-0.9042	10	0.87932	D	0	.	10.0709	0.42332	0.0:0.0823:0.0:0.9177	.	86	Q8NH59	O51Q1_HUMAN	R	86	ENSP00000300778:L86R	ENSP00000300778:L86R	L	+	2	0	OR51Q1	5400263	0.000000	0.05858	0.247000	0.24249	0.792000	0.44763	0.107000	0.15375	2.133000	0.65898	0.311000	0.20440	CTT		0.522	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		14	62	0	0	0	0.00245	0	14	62				
DNHD1	144132	broad.mit.edu	37	11	6523987	6523987	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:6523987C>G	ENST00000527990.2	+	2	751	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	DNHD1_ENST00000254579.6_Missense_Mutation_p.Q251E|DNHD1_ENST00000354685.3_Missense_Mutation_p.Q251E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	251					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACACAGGTCTCAGCTTGACTA	0.493																																							uc001mdw.3		NA																	0				ovary(2)	2						c.(751-753)CAG>GAG		dynein heavy chain domain 1 isoform 1							80.0	68.0	72.0					11																	6523987		2201	4296	6497	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6523987C>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.751C>G	11.37:g.6523987C>G	ENSP00000436180:p.Gln251Glu					DNHD1_uc001mdp.2_Missense_Mutation_p.Q251E	p.Q251E	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	4	1315	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	251					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.751C>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284599	0.23392	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.25912	1.77;2.76;1.77	5.63	3.75	0.43078	.	1.037430	0.07577	N	0.919635	T	0.25232	0.0613	M	0.68317	2.08	0.09310	N	1	B;P	0.41450	0.437;0.75	B;B	0.39590	0.079;0.304	T	0.15607	-1.0431	10	0.06891	T	0.86	.	7.0226	0.24922	0.1717:0.7404:0.0:0.0879	.	251;251	Q96M86;Q96M86-4	DNHD1_HUMAN;.	E	251	ENSP00000254579:Q251E;ENSP00000346716:Q251E;ENSP00000436180:Q251E	ENSP00000254579:Q251E	Q	+	1	0	DNHD1	6480563	0.005000	0.15991	0.019000	0.16419	0.278000	0.26855	1.337000	0.33862	0.720000	0.32209	-0.319000	0.08680	CAG		0.493	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		13	15	0	0	0	0.013537	0	13	15				
RNF141	50862	broad.mit.edu	37	11	10555597	10555597	+	Missense_Mutation	SNP	C	C	G	rs149870408		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:10555597C>G	ENST00000265981.2	-	2	251	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	RNF141_ENST00000528665.1_Missense_Mutation_p.E37Q	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141	37					protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CCAAGAAATTCTTCATAAGTT	0.393																																					Ovarian(8;377 410 25844 26058 41491)	Ovarian(8;377 410 25844 26058 41491)	uc001mis.1		NA																	0					0						c.(109-111)GAA>CAA		ring finger protein 141							154.0	137.0	143.0					11																	10555597		2201	4294	6495	SO:0001583	missense	50862						zinc ion binding	g.chr11:10555597C>G	AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5		ENST00000265981.2:c.109G>C	11.37:g.10555597C>G	ENSP00000265981:p.Glu37Gln					RNF141_uc009yga.1_RNA|RNF141_uc001mit.1_Missense_Mutation_p.E37Q	p.E37Q	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN		all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)	2	262	-			37					A8K149|Q9NZB4	Missense_Mutation	SNP	ENST00000265981.2	37	c.109G>C	CCDS7803.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122224	0.94429	.	.	ENSG00000110315	ENST00000265981;ENST00000528665;ENST00000533412	T	0.72835	-0.69	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.83335	0.5232	M	0.64997	1.995	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.82151	-0.0599	10	0.52906	T	0.07	-23.0967	20.4026	0.99000	0.0:1.0:0.0:0.0	.	37	Q8WVD5	RN141_HUMAN	Q	37	ENSP00000265981:E37Q	ENSP00000265981:E37Q	E	-	1	0	RNF141	10512173	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.165000	0.77544	2.829000	0.97493	0.643000	0.83706	GAA		0.393	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385888.1	NM_016422		18	32	0	0	0	0.007413	0	18	32				
MADD	8567	broad.mit.edu	37	11	47315475	47315475	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:47315475G>C	ENST00000311027.5	+	22	3622	c.3457G>C	c.(3457-3459)Gag>Cag	p.E1153Q	MADD_ENST00000395336.3_Missense_Mutation_p.E1153Q|MADD_ENST00000406482.1_Missense_Mutation_p.E1072Q|MADD_ENST00000395344.3_Missense_Mutation_p.E1072Q|MADD_ENST00000402799.1_Missense_Mutation_p.E1072Q|MADD_ENST00000342922.4_Missense_Mutation_p.E1115Q|MADD_ENST00000405573.2_5'UTR|MADD_ENST00000402192.2_Missense_Mutation_p.E1115Q|MADD_ENST00000407859.3_Missense_Mutation_p.E1092Q|MADD_ENST00000349238.3_Missense_Mutation_p.E1135Q	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGGTGAGACAGAGGAGAAAAA	0.478																																							uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3457-3459)GAG>CAG		MAP-kinase activating death domain-containing							155.0	140.0	145.0					11																	47315475		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47315475G>C	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3457G>C	11.37:g.47315475G>C	ENSP00000310933:p.Glu1153Gln					MADD_uc001neq.2_Missense_Mutation_p.E1115Q|MADD_uc001nev.1_Missense_Mutation_p.E1072Q|MADD_uc001nes.1_Missense_Mutation_p.E1092Q|MADD_uc001net.1_Missense_Mutation_p.E1135Q|MADD_uc009yln.1_Missense_Mutation_p.E1072Q|MADD_uc001neu.1_Missense_Mutation_p.E1072Q|MADD_uc001nex.2_Missense_Mutation_p.E1153Q|MADD_uc001nez.2_Missense_Mutation_p.E1072Q|MADD_uc001new.2_Missense_Mutation_p.E1115Q|MADD_uc009ylo.2_Missense_Mutation_p.E71Q	p.E1153Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	22	3648	+			1153						Missense_Mutation	SNP	ENST00000311027.5	37	c.3457G>C	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.262114	0.80358	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08008	3.34;3.15;3.15;3.35;3.27;3.16;3.14;3.26;3.34	5.47	5.47	0.80525	.	0.153884	0.64402	D	0.000019	T	0.14830	0.0358	L	0.34521	1.04	0.80722	D	1	P;B;B;P;P;P;B;B;P;P	0.40066	0.701;0.258;0.391;0.561;0.515;0.515;0.255;0.261;0.574;0.554	P;B;P;P;B;B;P;B;B;P	0.49421	0.464;0.135;0.61;0.514;0.264;0.264;0.542;0.311;0.405;0.542	T	0.03268	-1.1054	10	0.33940	T	0.23	-14.4799	19.321	0.94240	0.0:0.0:1.0:0.0	.	1072;1072;1153;1072;1072;1072;1135;1092;1153;1115	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Q	1115;1072;1072;1072;1135;1153;1092;1072;1153;1115	ENSP00000343902:E1115Q;ENSP00000385585:E1072Q;ENSP00000384435:E1072Q;ENSP00000304505:E1135Q;ENSP00000310933:E1153Q;ENSP00000384204:E1092Q;ENSP00000378753:E1072Q;ENSP00000378745:E1153Q;ENSP00000384287:E1115Q	ENSP00000310933:E1153Q	E	+	1	0	MADD	47272051	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.439000	0.97543	2.547000	0.85894	0.655000	0.94253	GAG		0.478	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			16	31	0	0	0	0.008871	0	16	31				
OR4X2	119764	broad.mit.edu	37	11	48267148	48267148	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:48267148G>A	ENST00000302329.3	+	1	541	c.493G>A	c.(493-495)Gtg>Atg	p.V165M		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGGCCCCAATGTGATCAATCA	0.493																																							uc001ngs.1		NA																	0					0						c.(493-495)GTG>ATG		olfactory receptor, family 4, subfamily X,							288.0	258.0	268.0					11																	48267148		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267148G>A	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.493G>A	11.37:g.48267148G>A	ENSP00000307751:p.Val165Met						p.V165M	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	493	+			165			Extracellular (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.493G>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449836	0.43531	.	.	ENSG00000172208	ENST00000302329	T	0.00207	8.55	5.37	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.136255	0.32868	N	0.005544	T	0.00300	0.0009	M	0.82193	2.58	0.22762	N	0.998764	P	0.37636	0.603	B	0.39503	0.301	T	0.19943	-1.0290	10	0.72032	D	0.01	.	10.65	0.45642	0.144:0.0:0.856:0.0	.	165	Q8NGF9	OR4X2_HUMAN	M	165	ENSP00000307751:V165M	ENSP00000307751:V165M	V	+	1	0	OR4X2	48223724	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.132000	0.10467	0.608000	0.30000	0.650000	0.86243	GTG		0.493	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		78	191	0	0	0	0.01441	0	78	191				
OR4P4	81300	broad.mit.edu	37	11	55406751	55406751	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:55406751G>A	ENST00000314612.2	+	1	918	c.918G>A	c.(916-918)ctG>ctA	p.L306L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L306L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398																																							uc010rij.1		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(916-918)CTG>CTA		olfactory receptor, family 4, subfamily P,							117.0	116.0	116.0					11																	55406751		2177	3987	6164	SO:0001819	synonymous_variant	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406751G>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.918G>A	11.37:g.55406751G>A							p.L306L	NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN			1	918	+			306			Cytoplasmic (Potential).			Silent	SNP	ENST00000314612.2	37	c.918G>A	CCDS31504.1																																																																																				0.398	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		8	24	0	0	0	0.00308	0	8	24				
OR4S2	219431	broad.mit.edu	37	11	55418793	55418793	+	Silent	SNP	A	A	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:55418793A>T	ENST00000312422.2	+	1	414	c.414A>T	c.(412-414)acA>acT	p.T138T		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	138						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(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACCGGGAGACATGCAATAAAA	0.438																																							uc001nhs.1		NA																	0				skin(2)|ovary(1)	3						c.(412-414)ACA>ACT		olfactory receptor, family 4, subfamily S,							202.0	168.0	180.0					11																	55418793		2182	4037	6219	SO:0001819	synonymous_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418793A>T	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.414A>T	11.37:g.55418793A>T							p.T138T	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	414	+		all_epithelial(135;0.0748)	138			Helical; Name=4; (Potential).		Q6IF72	Silent	SNP	ENST00000312422.2	37	c.414A>T	CCDS31505.1																																																																																				0.438	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		96	59	0	0	0	0.01441	0	96	59				
OR5M10	390167	broad.mit.edu	37	11	56344765	56344765	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:56344765C>A	ENST00000526812.2	-	1	498	c.433G>T	c.(433-435)Gtc>Ttc	p.V145F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GGCACAGTGACCAGAGAGATG	0.438																																							uc001niz.1		NA																	0					0						c.(433-435)GTC>TTC		olfactory receptor, family 5, subfamily M,							182.0	172.0	176.0					11																	56344765		2022	4202	6224	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344765C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.433G>T	11.37:g.56344765C>A	ENSP00000436004:p.Val145Phe						p.V145F	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN			1	433	-			145			Helical; Name=4; (Potential).		B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.433G>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	16.09	3.023147	0.54683	.	.	ENSG00000254834	ENST00000526812	T	0.39997	1.05	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.70613	0.3244	H	0.94345	3.525	0.09310	N	1	D	0.53885	0.963	P	0.58266	0.836	T	0.67237	-0.5721	9	0.87932	D	0	.	15.3464	0.74340	0.0:1.0:0.0:0.0	.	145	Q6IEU7	OR5MA_HUMAN	F	145	ENSP00000436004:V145F	ENSP00000436004:V145F	V	-	1	0	OR5M10	56101341	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	0.606000	0.24194	2.238000	0.73509	0.632000	0.83419	GTC		0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		58	32	1	0	5.86059e-21	0.01441	7.45187e-21	58	32				
MS4A3	932	broad.mit.edu	37	11	59837144	59837144	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:59837144G>C	ENST00000278865.3	+	6	684	c.611G>C	c.(610-612)aGa>aCa	p.R204T	MS4A3_ENST00000358152.2_Missense_Mutation_p.R158T|MS4A3_ENST00000395032.2_Missense_Mutation_p.R81T|MS4A3_ENST00000534744.1_Missense_Mutation_p.R158T	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	204						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAATTCAAGAGAGGTGAGA	0.403																																							uc001nom.2		NA																	0				ovary(2)|skin(1)	3						c.(610-612)AGA>ACA		membrane-spanning 4-domains, subfamily A, member							202.0	192.0	196.0					11																	59837144		2201	4295	6496	SO:0001583	missense	932					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	g.chr11:59837144G>C	L35848	CCDS31567.1, CCDS31568.1, CCDS41651.1	11q12-q13.1	2008-03-25				ENSG00000149516			7317	protein-coding gene	gene with protein product		606498		CD20L		7524084	Standard	NM_006138		Approved	HTM4	uc001nom.3	Q96HJ5		ENST00000278865.3:c.611G>C	11.37:g.59837144G>C	ENSP00000278865:p.Arg204Thr					MS4A3_uc001non.2_Missense_Mutation_p.R158T|MS4A3_uc001noo.2_Missense_Mutation_p.R81T	p.R204T	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN			6	739	+		all_epithelial(135;0.245)	204			Cytoplasmic (Potential).		A8MTP8|Q8NHW2	Missense_Mutation	SNP	ENST00000278865.3	37	c.611G>C	CCDS31567.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820585	0.32145	.	.	ENSG00000149516	ENST00000395032;ENST00000358152;ENST00000278865;ENST00000534744	T;T;T	0.30448	1.53;3.11;1.53	4.75	1.64	0.23874	.	4.631050	0.00397	N	0.000043	T	0.47967	0.1474	M	0.62723	1.935	0.09310	N	1	D;D	0.71674	0.998;0.997	D;P	0.66979	0.948;0.888	T	0.33266	-0.9875	10	0.14656	T	0.56	-7.9829	5.4731	0.16680	0.3641:0.0:0.6359:0.0	.	158;204	Q96HJ5-2;Q96HJ5	.;MS4A3_HUMAN	T	81;158;204;158	ENSP00000350872:R158T;ENSP00000278865:R204T;ENSP00000434117:R158T	ENSP00000278865:R204T	R	+	2	0	MS4A3	59593720	0.000000	0.05858	0.006000	0.13384	0.014000	0.08584	-0.010000	0.12743	0.606000	0.29965	0.643000	0.83706	AGA		0.403	MS4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394417.1			97	68	0	0	0	0.01441	0	97	68				
PHOX2A	401	broad.mit.edu	37	11	71952288	71952288	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:71952288C>T	ENST00000298231.5	-	2	434	c.263G>A	c.(262-264)cGc>cAc	p.R88H	PHOX2A_ENST00000544057.1_5'UTR	NM_005169.3	NP_005160.2	O14813	PHX2A_HUMAN	paired-like homeobox 2a	88					dopaminergic neuron differentiation (GO:0071542)|locus ceruleus development (GO:0021703)|midbrain development (GO:0030901)|noradrenergic neuron differentiation (GO:0003357)|oculomotor nerve formation (GO:0021623)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of respiratory gaseous exchange (GO:0043576)|somatic motor neuron differentiation (GO:0021523)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)|trochlear nerve formation (GO:0021642)	nuclear chromatin (GO:0000790)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	5						CCGCTGCTTGCGCTTCTCGTG	0.647																																							uc001osh.3		NA																	0					0						c.(262-264)CGC>CAC		paired-like homeobox 2a							47.0	44.0	45.0					11																	71952288		2200	4293	6493	SO:0001583	missense	401				noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:71952288C>T	AF022722	CCDS8214.1	11q13.4	2014-09-04	2007-07-12	2003-02-14	ENSG00000165462	ENSG00000165462		"""Homeoboxes / PRD class"""	691	protein-coding gene	gene with protein product		602753	"""aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive"", ""paired-like (aristaless) homeobox 2a"""	ARIX, FEOM2		8661014, 11600883	Standard	NM_005169		Approved	PMX2A, CFEOM2	uc001osh.4	O14813	OTTHUMG00000167899	ENST00000298231.5:c.263G>A	11.37:g.71952288C>T	ENSP00000298231:p.Arg88His						p.R88H	NM_005169	NP_005160	O14813	PHX2A_HUMAN			2	435	-			88					A8K3N0|Q8IVZ2	Missense_Mutation	SNP	ENST00000298231.5	37	c.263G>A	CCDS8214.1	.	.	.	.	.	.	.	.	.	.	N	36	5.692379	0.96793	.	.	ENSG00000165462	ENST00000298231	D	0.95788	-3.81	4.64	4.64	0.57946	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.142071	0.32970	N	0.005436	D	0.97148	0.9068	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.97789	1.0237	10	0.87932	D	0	.	16.3147	0.82913	0.0:1.0:0.0:0.0	.	88	O14813	PHX2A_HUMAN	H	88	ENSP00000298231:R88H	ENSP00000298231:R88H	R	-	2	0	PHOX2A	71629936	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.549000	0.82163	2.410000	0.81850	0.456000	0.33151	CGC		0.647	PHOX2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396885.1	NM_005169		16	32	0	0	0	0.006122	0	16	32				
CAPN5	726	broad.mit.edu	37	11	76833722	76833722	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:76833722C>G	ENST00000278559.3	+	12	1893	c.1704C>G	c.(1702-1704)ttC>ttG	p.F568L	CAPN5_ENST00000529629.1_Missense_Mutation_p.F568L|CAPN5_ENST00000456580.2_Missense_Mutation_p.F608L|CAPN5_ENST00000531028.1_Intron	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	568	C2.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AAGGCATCTTCTACCGCAAGA	0.582																																							uc001oxx.2		NA																	0					0						c.(1702-1704)TTC>TTG		calpain 5							128.0	112.0	118.0					11																	76833722		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76833722C>G		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1704C>G	11.37:g.76833722C>G	ENSP00000278559:p.Phe568Leu					CAPN5_uc009yup.2_Missense_Mutation_p.F608L|CAPN5_uc009yuq.2_Missense_Mutation_p.F604L|CAPN5_uc001oxy.2_Missense_Mutation_p.F608L|CAPN5_uc001oya.2_Missense_Mutation_p.F130L	p.F568L	NM_004055	NP_004046	O15484	CAN5_HUMAN			12	1889	+			568			C2.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1704C>G	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902192	0.72754	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.77358	-1.09;-1.09;-1.09	4.93	2.01	0.26516	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.97110	0.998;1.0;1.0;0.998	T	0.83220	-0.0069	10	0.87932	D	0	.	8.9801	0.35959	0.0:0.7576:0.0:0.2424	.	606;608;608;568	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	L	568;608;568;608	ENSP00000278559:F568L;ENSP00000432332:F568L;ENSP00000409996:F608L	ENSP00000278559:F568L	F	+	3	2	CAPN5	76511370	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	1.768000	0.38511	0.595000	0.29777	0.655000	0.94253	TTC		0.582	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	NM_004055		69	24	0	0	0	0.01441	0	69	24				
PRCP	5547	broad.mit.edu	37	11	82536054	82536054	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:82536054T>C	ENST00000313010.3	-	9	1579	c.1385A>G	c.(1384-1386)aAg>aGg	p.K462R	PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.K483R|PRCP_ENST00000535099.1_Missense_Mutation_p.K357R	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	462					angiogenesis involved in wound healing (GO:0060055)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|energy homeostasis (GO:0097009)|glucose homeostasis (GO:0042593)|negative regulation of systemic arterial blood pressure (GO:0003085)|plasma kallikrein-kinin cascade (GO:0002353)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	serine-type carboxypeptidase activity (GO:0004185)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CAAGGCATTCTTGGTGCGGAG	0.502																																							uc001ozs.2		NA																	0				skin(1)	1						c.(1384-1386)AAG>AGG		prolylcarboxypeptidase isoform 1 preproprotein							104.0	96.0	99.0					11																	82536054		2203	4300	6503	SO:0001583	missense	5547				blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity	g.chr11:82536054T>C	BC001500, BI827978, L13977	CCDS8262.1, CCDS41695.1	11q14	2005-10-04				ENSG00000137509			9344	protein-coding gene	gene with protein product		176785				8344943	Standard	NM_199418		Approved	PCP, HUMPCP	uc001ozr.3	P42785		ENST00000313010.3:c.1385A>G	11.37:g.82536054T>C	ENSP00000317362:p.Lys462Arg					PRCP_uc001ozr.2_Missense_Mutation_p.K483R	p.K462R	NM_005040	NP_005031	P42785	PCP_HUMAN			9	1498	-			462					A8MU24|B2R7B7|B3KRK5|B5BU34	Missense_Mutation	SNP	ENST00000313010.3	37	c.1385A>G	CCDS8262.1	.	.	.	.	.	.	.	.	.	.	T	6.426	0.446670	0.12223	.	.	ENSG00000137509	ENST00000313010;ENST00000393399;ENST00000535099	T;T;T	0.13901	2.55;2.55;2.55	5.78	-4.34	0.03666	.	0.731705	0.14602	N	0.309584	T	0.05777	0.0151	N	0.04132	-0.27	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.15052	0.003;0.012	T	0.35051	-0.9804	9	.	.	.	-0.4297	16.5547	0.84482	0.0:0.6012:0.0:0.3988	.	462;483	P42785;A8MU24	PCP_HUMAN;.	R	462;483;357	ENSP00000317362:K462R;ENSP00000377055:K483R;ENSP00000442077:K357R	.	K	-	2	0	PRCP	82213702	0.514000	0.26202	0.036000	0.18154	0.025000	0.11179	0.019000	0.13444	-0.670000	0.05282	-0.456000	0.05471	AAG		0.502	PRCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391792.1	NM_005040		17	39	0	0	0	0.006122	0	17	39				
GRIA4	2893	broad.mit.edu	37	11	105774606	105774606	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:105774606C>A	ENST00000530497.1	+	7	952	c.952C>A	c.(952-954)Cag>Aag	p.Q318K	GRIA4_ENST00000525187.1_Missense_Mutation_p.Q318K|GRIA4_ENST00000393125.2_Missense_Mutation_p.Q318K|GRIA4_ENST00000393127.2_Missense_Mutation_p.Q318K|GRIA4_ENST00000428631.2_Missense_Mutation_p.Q318K|GRIA4_ENST00000282499.5_Missense_Mutation_p.Q318K			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	318					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TCTTAGGAGGCAGAAAATTGA	0.443																																							uc001pix.2		NA																	0				ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8						c.(952-954)CAG>AAG		glutamate receptor, ionotrophic, AMPA 4 isoform	L-Glutamic Acid(DB00142)						126.0	124.0	125.0					11																	105774606		2202	4299	6501	SO:0001583	missense	2893				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105774606C>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.952C>A	11.37:g.105774606C>A	ENSP00000435775:p.Gln318Lys					GRIA4_uc001piu.1_Missense_Mutation_p.Q318K|GRIA4_uc001piw.2_Missense_Mutation_p.Q318K|GRIA4_uc009yxk.1_Missense_Mutation_p.Q318K	p.Q318K	NM_000829	NP_000820	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	8	1398	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	318			Extracellular (Potential).		Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.952C>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413486	0.62511	.	.	ENSG00000152578	ENST00000393125;ENST00000282499;ENST00000393127;ENST00000428631;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92;1.92	5.73	4.82	0.62117	Extracellular ligand-binding receptor (1);	0.000000	0.64402	D	0.000007	T	0.43897	0.1268	L	0.39898	1.24	0.80722	D	1	B;D;D	0.54601	0.051;0.967;0.963	B;D;P	0.72625	0.064;0.978;0.868	T	0.42632	-0.9440	10	0.72032	D	0.01	.	17.1991	0.86901	0.0:0.8739:0.126:0.0	.	318;318;318	P48058;G3V164;Q86XE8	GRIA4_HUMAN;.;.	K	318	ENSP00000376833:Q318K;ENSP00000282499:Q318K;ENSP00000376835:Q318K;ENSP00000415551:Q318K;ENSP00000435775:Q318K;ENSP00000432180:Q318K	ENSP00000282499:Q318K	Q	+	1	0	GRIA4	105279816	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	1.542000	0.49330	-0.165000	0.13383	CAG		0.443	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			8	90	1	0	3.09899e-07	0.004482	3.5417e-07	8	90				
NXPE2	120406	broad.mit.edu	37	11	114569363	114569363	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:114569363G>A	ENST00000389586.4	+	3	919	c.729G>A	c.(727-729)caG>caA	p.Q243Q	NXPE2_ENST00000375475.5_Silent_p.Q243Q	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	243						integral component of membrane (GO:0016021)											AACTGTGCCAGTACATGGATG	0.473																																							uc009yyy.2		NA																	0				ovary(1)	1						c.(727-729)CAG>CAA		hypothetical protein LOC120406							90.0	77.0	81.0					11																	114569363		692	1591	2283	SO:0001819	synonymous_variant	120406					integral to membrane		g.chr11:114569363G>A	AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.729G>A	11.37:g.114569363G>A							p.Q243Q	NM_182495	NP_872301	Q96DL1	FA55B_HUMAN			3	827	+			243					Q2NKI8	Silent	SNP	ENST00000389586.4	37	c.729G>A	CCDS44738.1																																																																																				0.473	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1	NM_182495		16	40	0	0	0	0.004007	0	16	40				
TECTA	7007	broad.mit.edu	37	11	121008503	121008503	+	Silent	SNP	C	C	T	rs142573400	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:121008503C>T	ENST00000392793.1	+	11	3586	c.3315C>T	c.(3313-3315)taC>taT	p.Y1105Y	TECTA_ENST00000264037.2_Silent_p.Y1105Y			O75443	TECTA_HUMAN	tectorin alpha	1105	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCTCAGGCTACGGCCACTACC	0.582																																							uc010rzo.1		NA																	0				breast(6)|ovary(2)|skin(2)	10						c.(3313-3315)TAC>TAT		tectorin alpha precursor		C		3,4403	8.1+/-20.4	0,3,2200	118.0	85.0	96.0		3315	-10.5	0.1	11	dbSNP_134	96	0,8598		0,0,4299	no	coding-synonymous	TECTA	NM_005422.2		0,3,6499	TT,TC,CC		0.0,0.0681,0.0231		1105/2156	121008503	3,13001	2203	4299	6502	SO:0001819	synonymous_variant	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121008503C>T	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3315C>T	11.37:g.121008503C>T							p.Y1105Y	NM_005422	NP_005413	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	10	3315	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1105			VWFD 3.			Silent	SNP	ENST00000392793.1	37	c.3315C>T	CCDS8434.1																																																																																				0.582	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	NM_005422		5	31	0	0	0	0.000602	0	5	31				
SORL1	6653	broad.mit.edu	37	11	121476152	121476152	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr11:121476152G>C	ENST00000260197.7	+	35	4949	c.4820G>C	c.(4819-4821)aGc>aCc	p.S1607T	SORL1_ENST00000534286.1_Missense_Mutation_p.S517T|SORL1_ENST00000525532.1_Missense_Mutation_p.S551T|SORL1_ENST00000532694.1_Missense_Mutation_p.S453T|SORL1_ENST00000527934.1_Missense_Mutation_p.S222T	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1607	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GAGACCCACAGCAATAAGACA	0.448																																							uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.(4819-4821)AGC>ACC		sortilin-related receptor containing LDLR class							155.0	160.0	158.0					11																	121476152		2203	4299	6502	SO:0001583	missense	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121476152G>C	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.4820G>C	11.37:g.121476152G>C	ENSP00000260197:p.Ser1607Thr					SORL1_uc010rzp.1_Missense_Mutation_p.S453T|SORL1_uc010rzq.1_Missense_Mutation_p.S222T	p.S1607T	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	35	4900	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)	1607			Extracellular (Potential).|Fibronectin type-III 1.		B2RNX7|Q92856	Missense_Mutation	SNP	ENST00000260197.7	37	c.4820G>C	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212546	0.58452	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.7	5.7	0.88788	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.76494	0.989;0.999	P;D	0.81914	0.817;0.995	T	0.50389	-0.8834	10	0.09843	T	0.71	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	222;1607	E9PKB0;Q92673	.;SORL_HUMAN	T	1607;551;453;517;222	ENSP00000260197:S1607T;ENSP00000434634:S551T;ENSP00000432131:S453T;ENSP00000436447:S517T;ENSP00000435405:S222T	ENSP00000260197:S1607T	S	+	2	0	SORL1	120981362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.284000	0.72652	2.683000	0.91414	0.655000	0.94253	AGC		0.448	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105		22	151	0	0	0	0.014323	0	22	151				
B4GALNT3	283358	broad.mit.edu	37	12	674430	674430	+	IGR	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:674430C>A	ENST00000266383.5	+	0	5068				NINJ2_ENST00000305108.4_Missense_Mutation_p.A180S|NINJ2_ENST00000397265.3_Missense_Mutation_p.A127S|NINJ2_ENST00000537416.1_5'Flank|NINJ2_ENST00000542920.1_Missense_Mutation_p.A98S	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3						metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GCCCTGGCAGCCAGGAACCCT	0.562																																							uc001qil.2		NA																	0				ovary(2)	2						c.(538-540)GCT>TCT		ninjurin 2							67.0	60.0	62.0					12																	674430		2203	4300	6503	SO:0001628	intergenic_variant	4815				nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane		g.chr12:674430C>A	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283		12.37:g.674430C>A							p.A180S	NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)		3	629	-	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		134			Extracellular (Potential).		Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	ENST00000266383.5	37	c.538G>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	2.665	-0.278892	0.05642	.	.	ENSG00000171840	ENST00000305108;ENST00000397265;ENST00000542920	T;T;T	0.47528	0.84;0.91;0.93	4.88	0.46	0.16684	.	0.717193	0.13055	N	0.417374	T	0.41949	0.1181	M	0.65975	2.015	0.48185	D	0.999604	B	0.09022	0.002	B	0.13407	0.009	T	0.19418	-1.0306	10	0.36615	T	0.2	-1.6208	7.1258	0.25471	0.0:0.5264:0.2056:0.2681	.	134	Q9NZG7	NINJ2_HUMAN	S	180;127;98	ENSP00000307552:A180S;ENSP00000380435:A127S;ENSP00000438831:A98S	ENSP00000307552:A180S	A	-	1	0	NINJ2	544691	0.997000	0.39634	0.012000	0.15200	0.007000	0.05969	0.747000	0.26290	-0.044000	0.13491	-1.579000	0.00862	GCT		0.562	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593		15	35	1	0	0.000308642	0.003163	0.000339595	15	35				
CACNA1C	775	broad.mit.edu	37	12	2760808	2760808	+	Silent	SNP	C	C	T	rs150092451	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:2760808C>T	ENST00000347598.4	+	34	4092	c.4092C>T	c.(4090-4092)aaC>aaT	p.N1364N	CACNA1C_ENST00000399621.1_Silent_p.N1316N|CACNA1C_ENST00000399644.1_Silent_p.N1316N|CACNA1C_ENST00000406454.3_Silent_p.N1316N|CACNA1C_ENST00000399641.1_Silent_p.N1316N|CACNA1C_ENST00000327702.7_Silent_p.N1316N|CACNA1C_ENST00000399606.1_Silent_p.N1336N|CACNA1C_ENST00000399601.1_Silent_p.N1316N|CACNA1C_ENST00000344100.3_Silent_p.N1338N|CACNA1C_ENST00000399617.1_Silent_p.N1316N|CACNA1C_ENST00000399649.1_Silent_p.N1303N|CACNA1C_ENST00000399629.1_Silent_p.N1333N|CACNA1C_ENST00000399638.1_Silent_p.N1344N|CACNA1C_ENST00000399634.1_Silent_p.N1316N|CACNA1C_ENST00000399591.1_Silent_p.N1305N|CACNA1C_ENST00000399597.1_Silent_p.N1316N|CACNA1C_ENST00000399655.1_Silent_p.N1316N|CACNA1C_ENST00000399637.1_Silent_p.N1316N|CACNA1C_ENST00000399603.1_Silent_p.N1316N|CACNA1C_ENST00000335762.5_Silent_p.N1341N|CACNA1C_ENST00000399595.1_Silent_p.N1305N|CACNA1C_ENST00000402845.3_Silent_p.N1316N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1364					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.N851N(1)|p.N1394N(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTCCAGAACGCAGAGGAAA	0.617													C|||	6	0.00119808	0.0	0.0	5008	,	,		19034	0.001		0.0	False		,,,				2504	0.0051						uc009zdu.1		NA																	2	Substitution - coding silent(2)		upper_aerodigestive_tract(2)	ovary(10)|central_nervous_system(1)	11						c.(4090-4092)AAC>AAT		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	C	,,,,,,,,,,,,,,,,,,,,,,	0,4376		0,0,2188	104.0	116.0	112.0		3948,4092,4014,3948,4032,4008,3948,3948,3948,3999,3915,3915,3909,3948,3948,3948,3948,3939,3915,3948,3948,3915,4092	-1.9	1.0	12	dbSNP_134	112	1,8595		0,1,4297	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,1,6485	TT,TC,CC		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,,,,,,,,	1316/2139,1364/2187,1338/2180,1316/2174,1344/2167,1336/2159,1316/2158,1316/2158,1316/2158,1333/2156,1305/2147,1305/2147,1303/2145,1316/2139,1316/2139,1316/2139,1316/2139,1313/2136,1305/2128,1316/2139,1316/2174,1305/2199,1364/2222	2760808	1,12971	2188	4298	6486	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2760808C>T	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4092C>T	12.37:g.2760808C>T						CACNA1C_uc009zdv.1_Silent_p.N1313N|CACNA1C_uc001qkb.2_Silent_p.N1316N|CACNA1C_uc001qkc.2_Silent_p.N1316N|CACNA1C_uc001qke.2_Silent_p.N1305N|CACNA1C_uc001qkf.2_Silent_p.N1305N|CACNA1C_uc001qjz.2_Silent_p.N1316N|CACNA1C_uc001qkd.2_Silent_p.N1316N|CACNA1C_uc001qkg.2_Silent_p.N1303N|CACNA1C_uc009zdw.1_Silent_p.N1338N|CACNA1C_uc001qkh.2_Silent_p.N1305N|CACNA1C_uc001qkl.2_Silent_p.N1364N|CACNA1C_uc001qkn.2_Silent_p.N1316N|CACNA1C_uc001qko.2_Silent_p.N1336N|CACNA1C_uc001qkp.2_Silent_p.N1316N|CACNA1C_uc001qkr.2_Silent_p.N1333N|CACNA1C_uc001qku.2_Silent_p.N1316N|CACNA1C_uc001qkq.2_Silent_p.N1344N|CACNA1C_uc001qks.2_Silent_p.N1316N|CACNA1C_uc001qkt.2_Silent_p.N1316N|CACNA1C_uc001qki.1_Silent_p.N1052N|CACNA1C_uc001qkj.1_Silent_p.N1052N|CACNA1C_uc001qkk.1_Silent_p.N1052N|CACNA1C_uc001qkm.1_Silent_p.N1041N|CACNA1C_uc010sea.1_Silent_p.N7N	p.N1364N	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	34	4405	+			1364			Extracellular (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.4092C>T	CCDS44788.1																																																																																				0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		28	73	0	0	0	0.013726	0	28	73				
GDF3	9573	broad.mit.edu	37	12	7848123	7848123	+	Nonsense_Mutation	SNP	G	G	A	rs373943760		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:7848123G>A	ENST00000329913.3	-	1	249	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	68					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CATAAGTCTCGGGAGACCCCA	0.498																																							uc001qte.2		NA																	0				skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(202-204)CGA>TGA		growth differentiation factor 3 precursor		G	stop/ARG	0,4406		0,0,2203	54.0	56.0	55.0		202	2.5	0.0	12		55	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	GDF3	NM_020634.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		68/365	7848123	1,13005	2203	4300	6503	SO:0001587	stop_gained	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7848123G>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.202C>T	12.37:g.7848123G>A	ENSP00000331745:p.Arg68*						p.R68*	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			1	238	-			68					Q8NEJ4	Nonsense_Mutation	SNP	ENST00000329913.3	37	c.202C>T	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764651	0.90020	0.0	1.16E-4	ENSG00000184344	ENST00000329913	.	.	.	3.45	2.54	0.30619	.	2.753320	0.01231	N	0.008358	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	8.0815	0.30748	0.0:0.0:0.7583:0.2417	.	.	.	.	X	68	.	ENSP00000331745:R68X	R	-	1	2	GDF3	7739390	0.043000	0.20138	0.011000	0.14972	0.784000	0.44337	2.622000	0.46427	0.775000	0.33450	0.313000	0.20887	CGA		0.498	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			6	71	0	0	0	0.001168	0	6	71				
A2ML1	144568	broad.mit.edu	37	12	8995850	8995850	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:8995850C>T	ENST00000299698.7	+	12	1549	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	A2ML1_ENST00000539547.1_5'Flank	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGCATCCACCGGCTAAACGG	0.542																																							uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(1369-1371)CGG>TGG		alpha-2-macroglobulin-like 1 precursor							84.0	86.0	85.0					12																	8995850		1983	4175	6158	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:8995850C>T	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1369C>T	12.37:g.8995850C>T	ENSP00000299698:p.Arg457Trp					A2ML1_uc001qva.1_Missense_Mutation_p.R37W|A2ML1_uc010sgm.1_5'Flank	p.R457W	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			12	1467	+			301						Missense_Mutation	SNP	ENST00000299698.7	37	c.1369C>T	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725667	0.30593	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459	T;T	0.65549	-0.16;-0.16	4.24	1.31	0.21738	Alpha-2-macroglobulin, N-terminal 2 (1);	1.607280	0.03807	N	0.265322	T	0.69984	0.3172	L	0.46157	1.445	0.09310	N	0.999995	D	0.67145	0.996	P	0.58970	0.849	T	0.54029	-0.8354	10	0.72032	D	0.01	.	7.9094	0.29782	0.2825:0.638:0.0:0.0795	.	457	A8K2U0	A2ML1_HUMAN	W	457;457;7	ENSP00000299698:R457W;ENSP00000443174:R7W	ENSP00000299698:R457W	R	+	1	2	A2ML1	8887117	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	1.132000	0.31418	0.289000	0.22422	-0.310000	0.09108	CGG		0.542	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		10	129	0	0	0	0.008291	0	10	129				
GPRC5D	55507	broad.mit.edu	37	12	13102817	13102817	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:13102817C>T	ENST00000228887.1	-	1	501	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	RP11-392P7.6_ENST00000538231.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V168M|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, class C, group 5, member D	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACAAAGTCCACATTGAGCTGG	0.478																																							uc010shp.1		NA																	0					0						c.(502-504)GTG>ATG		G protein-coupled receptor, family C, group 5,							148.0	109.0	122.0					12																	13102817		2203	4300	6503	SO:0001583	missense	55507					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:13102817C>T	AF209923	CCDS8658.1	12p13.3	2014-01-30	2014-01-30		ENSG00000111291	ENSG00000111291		"""GPCR / Class C : Orphans"""	13310	protein-coding gene	gene with protein product		607437	"""G protein-coupled receptor, family C, group 5, member D"""				Standard	XM_005253421		Approved		uc010shp.2	Q9NZD1	OTTHUMG00000168711	ENST00000228887.1:c.502G>A	12.37:g.13102817C>T	ENSP00000228887:p.Val168Met						p.V168M	NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.15)	1	502	-		Prostate(47;0.183)	168			Helical; Name=5; (Potential).		Q3KNV3|Q7Z5J9|Q8TDS6	Missense_Mutation	SNP	ENST00000228887.1	37	c.502G>A	CCDS8658.1	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584423	0.28268	.	.	ENSG00000111291	ENST00000228887;ENST00000396333	D;D	0.88664	-2.41;-2.41	6.03	3.04	0.35103	GPCR, family 3, C-terminal (1);	0.486738	0.19636	N	0.109569	T	0.77718	0.4172	N	0.15975	0.35	0.09310	N	0.999999	B	0.15930	0.015	B	0.24701	0.055	T	0.65212	-0.6223	10	0.37606	T	0.19	.	6.1865	0.20500	0.0:0.3706:0.4458:0.1836	.	168	Q9NZD1	GPC5D_HUMAN	M	168	ENSP00000228887:V168M;ENSP00000379624:V168M	ENSP00000228887:V168M	V	-	1	0	GPRC5D	12994084	0.001000	0.12720	0.754000	0.31244	0.364000	0.29643	0.009000	0.13219	0.848000	0.35191	-0.136000	0.14681	GTG		0.478	GPRC5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400687.1			11	55	0	0	0	0.008291	0	11	55				
PTPRO	5800	broad.mit.edu	37	12	15699627	15699627	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:15699627G>A	ENST00000281171.4	+	13	2619	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q	PTPRO_ENST00000442921.2_5'UTR|PTPRO_ENST00000542557.1_5'UTR|PTPRO_ENST00000445537.2_5'UTR|PTPRO_ENST00000348962.2_Silent_p.Q763Q|PTPRO_ENST00000544244.1_5'UTR	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	763	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCCAGTCAGAAAACCAAAC	0.393																																							uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(2287-2289)CAG>CAA		receptor-type protein tyrosine phosphatase O							133.0	134.0	134.0					12																	15699627		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15699627G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.2289G>A	12.37:g.15699627G>A						PTPRO_uc001rcw.1_Silent_p.Q763Q|PTPRO_uc001rcx.1_5'UTR|PTPRO_uc001rcy.1_5'UTR|PTPRO_uc001rcz.1_5'UTR|PTPRO_uc001rda.1_5'UTR	p.Q763Q	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			13	2463	+		Hepatocellular(102;0.244)	763			Fibronectin type-III 8.|Extracellular (Potential).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.2289G>A	CCDS8675.1																																																																																				0.393	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			6	46	0	0	0	0.00308	0	6	46				
ABCC9	10060	broad.mit.edu	37	12	22005368	22005368	+	Silent	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:22005368C>A	ENST00000261201.4	-	21	2576	c.2577G>T	c.(2575-2577)ctG>ctT	p.L859L	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L823L|ABCC9_ENST00000261200.4_Silent_p.L859L	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	859	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	TGTCATCTTGCAGGAATTTCA	0.403																																							uc001rfi.1		NA																	0				ovary(4)|skin(2)	6						c.(2575-2577)CTG>CTT		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						125.0	118.0	120.0					12																	22005368		2203	4300	6503	SO:0001819	synonymous_variant	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:22005368C>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.2577G>T	12.37:g.22005368C>A						ABCC9_uc001rfh.2_Silent_p.L859L|ABCC9_uc001rfj.1_Silent_p.L823L	p.L859L	NM_005691	NP_005682	O60706	ABCC9_HUMAN			21	2597	-			859			Cytoplasmic (Potential).|ABC transporter 1.		O60707	Silent	SNP	ENST00000261201.4	37	c.2577G>T	CCDS8694.1																																																																																				0.403	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		7	73	1	0	1.06961e-07	0.00308	1.23714e-07	7	73				
FAR2	55711	broad.mit.edu	37	12	29446406	29446406	+	Silent	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:29446406C>G	ENST00000536681.3	+	3	609	c.363C>G	c.(361-363)ctC>ctG	p.L121L	FAR2_ENST00000182377.4_Silent_p.L121L|FAR2_ENST00000547116.1_Silent_p.L24L|RP11-996F15.2_ENST00000553105.1_RNA	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	121					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						ACGACACTCTCAGGTACATTC	0.383																																							uc001ris.3		NA																	0					0						c.(361-363)CTC>CTG		fatty acyl CoA reductase 2							126.0	129.0	128.0					12																	29446406		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29446406C>G	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.363C>G	12.37:g.29446406C>G						FAR2_uc001rit.2_Silent_p.L121L|FAR2_uc009zjm.2_Silent_p.L24L|uc001riu.1_RNA	p.L121L	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			3	510	+			121					F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.363C>G	CCDS8717.1																																																																																				0.383	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		9	122	0	0	0	0.006214	0	9	122				
ALG10B	144245	broad.mit.edu	37	12	38714744	38714744	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:38714744T>C	ENST00000308742.4	+	3	1467	c.1151T>C	c.(1150-1152)aTa>aCa	p.I384T	ALG10B_ENST00000551464.1_Intron|AC117372.1_ENST00000401168.2_RNA	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	384					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transferase activity, transferring hexosyl groups (GO:0016758)			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTTGGAGTATAGCTGACTCA	0.308																																							uc001rln.3		NA																	0				ovary(2)|skin(1)	3						c.(1150-1152)ATA>ACA		asparagine-linked glycosylation 10 homolog B							86.0	89.0	88.0					12																	38714744		2201	4299	6500	SO:0001583	missense	144245				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr12:38714744T>C	AY845858	CCDS31772.1	12q12	2013-03-04	2013-03-04		ENSG00000175548	ENSG00000175548	2.4.1.256		31088	protein-coding gene	gene with protein product	"""potassium channel regulator 1"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""		"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast)"""				Standard	NM_001013620		Approved	KCR1	uc001rln.4	Q5I7T1	OTTHUMG00000169298	ENST00000308742.4:c.1151T>C	12.37:g.38714744T>C	ENSP00000310120:p.Ile384Thr					ALG10B_uc001rlo.3_Missense_Mutation_p.I354T|ALG10B_uc010skk.1_Missense_Mutation_p.I324T	p.I384T	NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN			3	1290	+	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)	384			Helical; (Potential).		B2RPF4	Missense_Mutation	SNP	ENST00000308742.4	37	c.1151T>C	CCDS31772.1	.	.	.	.	.	.	.	.	.	.	t	13.82	2.350418	0.41599	.	.	ENSG00000175548	ENST00000308742	T	0.57752	0.38	3.34	3.34	0.38264	.	0.148529	0.64402	D	0.000013	T	0.39064	0.1064	L	0.38692	1.165	0.80722	D	1	B	0.33448	0.412	B	0.30316	0.114	T	0.38373	-0.9664	10	0.46703	T	0.11	.	10.3594	0.43984	0.0:0.0:0.0:1.0	.	384	Q5I7T1	AG10B_HUMAN	T	384	ENSP00000310120:I384T	ENSP00000310120:I384T	I	+	2	0	ALG10B	37001011	1.000000	0.71417	0.966000	0.40874	0.991000	0.79684	7.515000	0.81761	1.764000	0.52075	0.533000	0.62120	ATA		0.308	ALG10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403349.1	NM_001013620		29	37	0	0	0	0.00632	0	29	37				
PLEKHA8P1	51054	broad.mit.edu	37	12	45567729	45567729	+	RNA	SNP	A	A	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:45567729A>C	ENST00000256692.5	-	0	956					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TATTTTCCTCACTTGATATGC	0.318																																							uc001rom.1		NA																	0					0						c.(418-420)AGT>AGG		pleckstrin homology domain containing, family A							74.0	74.0	74.0					12																	45567729		2203	4300	6503			51054							g.chr12:45567729A>C	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567729A>C						PLEKHA9_uc009zke.2_Missense_Mutation_p.S140R	p.S140R	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	957	-	Lung SC(27;0.192)|Renal(347;0.236)								Missense_Mutation	SNP	ENST00000256692.5	37	c.420T>G																																																																																					0.318	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		6	37	0	0	0	0.001168	0	6	37				
OR8S1	341568	broad.mit.edu	37	12	48920124	48920124	+	Missense_Mutation	SNP	C	C	T	rs370071506		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:48920124C>T	ENST00000310194.1	+	1	710	c.710C>T	c.(709-711)gCc>gTc	p.A237V	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGAAGCAAGGCCTTCTCCACC	0.517																																							uc010slu.1		NA																	0				skin(1)	1						c.(709-711)GCC>GTC		olfactory receptor, family 8, subfamily S,		C	VAL/ALA	0,4406		0,0,2203	126.0	111.0	116.0		710	5.0	1.0	12		116	1,8599	1.2+/-3.3	0,1,4299	no	missense	OR8S1	NM_001005203.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	237/360	48920124	1,13005	2203	4300	6503	SO:0001583	missense	341568				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:48920124C>T		CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.710C>T	12.37:g.48920124C>T	ENSP00000310632:p.Ala237Val						p.A237V	NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN			1	710	+			237			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000310194.1	37	c.710C>T	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419783	0.83559	0.0	1.16E-4	ENSG00000197376	ENST00000310194	T	0.00342	8.03	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.367991	0.19979	N	0.101819	T	0.00608	0.0020	M	0.75264	2.295	0.29360	N	0.864755	P	0.40000	0.698	P	0.50934	0.654	T	0.35968	-0.9767	10	0.66056	D	0.02	-30.5989	15.9065	0.79433	0.0:1.0:0.0:0.0	.	237	Q8NH09	OR8S1_HUMAN	V	237	ENSP00000310632:A237V	ENSP00000310632:A237V	A	+	2	0	OR8S1	47206391	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.516000	0.73755	2.604000	0.88044	0.655000	0.94253	GCC		0.517	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			17	71	0	0	0	0.00499	0	17	71				
TENC1	23371	broad.mit.edu	37	12	53452199	53452199	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:53452199C>A	ENST00000314250.6	+	15	1485	c.1195C>A	c.(1195-1197)Ccc>Acc	p.P399T	TENC1_ENST00000451358.1_Missense_Mutation_p.P399T|TENC1_ENST00000379902.3_Missense_Mutation_p.P275T|TENC1_ENST00000546602.1_Missense_Mutation_p.P399T|TENC1_ENST00000549700.1_Missense_Mutation_p.P399T|TENC1_ENST00000314276.3_Missense_Mutation_p.P409T|TENC1_ENST00000552570.1_Missense_Mutation_p.P399T	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	399	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCTCACTTTCCCCAAGGACCA	0.627																																							uc001sbp.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1195-1197)CCC>ACC		tensin like C1 domain containing phosphatase							94.0	80.0	85.0					12																	53452199		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53452199C>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.1195C>A	12.37:g.53452199C>A	ENSP00000319684:p.Pro399Thr					TENC1_uc001sbl.2_Missense_Mutation_p.P275T|TENC1_uc001sbn.2_Missense_Mutation_p.P409T|TENC1_uc001sbo.1_Missense_Mutation_p.P399T|TENC1_uc001sbq.2_5'UTR|TENC1_uc001sbr.2_5'Flank|TENC1_uc009zmr.2_5'Flank	p.P399T	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			15	1330	+			399			C2 tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.1195C>A	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158317	0.38119	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.43	0.261	0.15592	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.523695	0.20170	N	0.097749	T	0.65964	0.2742	N	0.13235	0.315	0.28463	N	0.915791	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.12156	0.001;0.007;0.001	T	0.50004	-0.8878	10	0.18276	T	0.48	-5.4598	4.2509	0.10695	0.5135:0.2991:0.0:0.1874	.	399;399;409	Q63HR2;F8W661;Q63HR2-4	TENC1_HUMAN;.;.	T	275;409;399;399;399;399;399;399	ENSP00000369232:P275T;ENSP00000319756:P409T;ENSP00000319684:P399T;ENSP00000393362:P399T;ENSP00000449363:P399T;ENSP00000447021:P399T;ENSP00000449361:P399T	ENSP00000319684:P399T	P	+	1	0	TENC1	51738466	0.127000	0.22367	0.998000	0.56505	0.935000	0.57460	0.838000	0.27572	0.182000	0.20032	0.655000	0.94253	CCC		0.627	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		8	48	1	0	2.17888e-05	0.006214	2.43224e-05	8	48				
USP15	9958	broad.mit.edu	37	12	62783422	62783422	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:62783422G>A	ENST00000280377.5	+	13	1653	c.1595G>A	c.(1594-1596)aGa>aAa	p.R532K	USP15_ENST00000353364.3_Missense_Mutation_p.R503K|USP15_ENST00000393654.3_Missense_Mutation_p.R507K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	532	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGATTTCACAGAATATTCGCT	0.284																																					Melanoma(181;615 2041 39364 49691 50001)	Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NA																	0				ovary(2)|lung(1)	3						c.(1594-1596)AGA>AAA		ubiquitin specific peptidase 15							87.0	99.0	95.0					12																	62783422		2203	4299	6502	SO:0001583	missense	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62783422G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.1595G>A	12.37:g.62783422G>A	ENSP00000280377:p.Arg532Lys					USP15_uc001srb.1_Missense_Mutation_p.R503K	p.R532K	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	13	1604	+			532					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Missense_Mutation	SNP	ENST00000280377.5	37	c.1595G>A	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894207	0.17613	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	T;T;T	0.17854	2.28;2.25;2.28	5.89	5.89	0.94794	RNA 3&apos (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);	0.051062	0.85682	D	0.000000	T	0.11623	0.0283	N	0.11000	0.08	0.47584	D	0.99946	B;B	0.15930	0.015;0.012	B;B	0.14578	0.011;0.009	T	0.25117	-1.0141	9	.	.	.	-19.6611	20.2617	0.98447	0.0:0.0:1.0:0.0	.	532;503	Q9Y4E8;Q9Y4E8-2	UBP15_HUMAN;.	K	503;532;507	ENSP00000258123:R503K;ENSP00000280377:R532K;ENSP00000377264:R507K	.	R	+	2	0	USP15	61069689	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.923000	0.63412	2.793000	0.96121	0.655000	0.94253	AGA		0.284	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		19	92	0	0	0	0.010504	0	19	92				
NAV3	89795	broad.mit.edu	37	12	78593140	78593140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:78593140G>T	ENST00000397909.2	+	37	6717	c.6544G>T	c.(6544-6546)Gaa>Taa	p.E2182*	NAV3_ENST00000536525.2_Nonsense_Mutation_p.E2160*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.E2160*|NAV3_ENST00000266692.7_Nonsense_Mutation_p.E1983*|NAV3_ENST00000541270.1_Nonsense_Mutation_p.E12*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2182						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAATCATACAGAACCAGTGAA	0.279										HNSCC(70;0.22)																													uc001syp.2		NA																	0				large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(6544-6546)GAA>TAA		neuron navigator 3							75.0	74.0	74.0					12																	78593140		1798	4061	5859	SO:0001587	stop_gained	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78593140G>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6544G>T	12.37:g.78593140G>T	ENSP00000381007:p.Glu2182*	HNSCC(70;0.22)				NAV3_uc001syo.2_Nonsense_Mutation_p.E2160*|NAV3_uc010sub.1_Nonsense_Mutation_p.E1639*|NAV3_uc009zsf.2_Nonsense_Mutation_p.E991*	p.E2182*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			37	6717	+			2182					Q8NFW7|Q9Y2E7	Nonsense_Mutation	SNP	ENST00000397909.2	37	c.6544G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.985943|5.985943	0.97173|0.97173	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788;ENST00000541270|ENST00000552895;ENST00000551162	.|.	.|.	.|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.000000|.	0.40728|.	U|.	0.001040|.	.|T	.|0.80014	.|0.4546	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77373	.|-0.2612	.|3	0.87932|.	D|.	0|.	-23.6421|-23.6421	20.2245|20.2245	0.98337|0.98337	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	2160;2182;2160;1983;774;782;12|1054;49	.|.	ENSP00000228327:E2160X|.	E|R	+|+	1|2	0|0	NAV3|NAV3	77117271|77117271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.813000|9.813000	0.99286|0.99286	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.279	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		11	26	1	0	9.05144e-12	0.001855	1.08617e-11	11	26				
CDK17	5128	broad.mit.edu	37	12	96691485	96691485	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:96691485C>G	ENST00000261211.3	-	8	1333	c.730G>C	c.(730-732)Gat>Cat	p.D244H	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.D191H|CDK17_ENST00000543119.2_Missense_Mutation_p.D244H	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	244	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TGTTTTAAATCCTTTAATAGT	0.303																																							uc001tep.1		NA																	0				ovary(3)|lung(2)|kidney(1)|central_nervous_system(1)	7						c.(730-732)GAT>CAT		PCTAIRE protein kinase 2							92.0	98.0	96.0					12																	96691485		2203	4296	6499	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96691485C>G		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.730G>C	12.37:g.96691485C>G	ENSP00000261211:p.Asp244His					CDK17_uc009ztk.2_Missense_Mutation_p.D244H|CDK17_uc010svb.1_Missense_Mutation_p.D191H	p.D244H	NM_002595	NP_002586	Q00537	CDK17_HUMAN			8	1219	-			244			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.730G>C	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619602	0.66787	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.64803	-0.12;-0.12;-0.12	5.57	5.57	0.84162	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	N	0.17379	0.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.983	T	0.72616	-0.4239	10	0.62326	D	0.03	-18.8494	19.1555	0.93509	0.0:1.0:0.0:0.0	.	244;244	A8K1U6;Q00537	.;CDK17_HUMAN	H	244;244;191	ENSP00000261211:D244H;ENSP00000444459:D244H;ENSP00000442926:D191H	ENSP00000261211:D244H	D	-	1	0	CDK17	95215616	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.600000	0.87896	0.655000	0.94253	GAT		0.303	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		17	44	0	0	0	0.00499	0	17	44				
ANO4	121601	broad.mit.edu	37	12	101504206	101504206	+	Missense_Mutation	SNP	T	T	C	rs200708403		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:101504206T>C	ENST00000392977.3	+	23	2384	c.2174T>C	c.(2173-2175)aTc>aCc	p.I725T	ANO4_ENST00000392979.3_Missense_Mutation_p.I690T|ANO4_ENST00000299222.9_Missense_Mutation_p.I245T|ANO4_ENST00000550015.1_Missense_Mutation_p.I245T			Q32M45	ANO4_HUMAN	anoctamin 4	725					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTCACAACTATCTTTGTGGCA	0.363										HNSCC(74;0.22)																													uc010svm.1		NA																	0				ovary(4)|skin(2)	6						c.(2173-2175)ATC>ACC		anoctamin 4							93.0	94.0	93.0					12																	101504206		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101504206T>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2174T>C	12.37:g.101504206T>C	ENSP00000376703:p.Ile725Thr	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.I690T|ANO4_uc001thx.2_Missense_Mutation_p.I725T|ANO4_uc001thy.2_Missense_Mutation_p.I245T	p.I725T	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			23	2746	+			725			Helical; (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.2174T>C		.	.	.	.	.	.	.	.	.	.	T	22.9	4.350767	0.82132	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.42	5.42	0.78866	.	0.069713	0.56097	D	0.000036	T	0.81278	0.4789	M	0.84511	2.7	0.58432	D	0.999992	D;D;D	0.89917	0.997;0.999;1.0	D;D;D	0.87578	0.995;0.996;0.998	D	0.84750	0.0756	10	0.87932	D	0	.	15.4748	0.75468	0.0:0.0:0.0:1.0	.	245;725;690	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	T	690;245;725;245	ENSP00000376705:I690T;ENSP00000299222:I245T;ENSP00000376703:I725T;ENSP00000450192:I245T	ENSP00000299222:I245T	I	+	2	0	ANO4	100028337	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.055000	0.61198	0.533000	0.62120	ATC		0.363	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		12	45	0	0	0	0.00245	0	12	45				
C12orf45	121053	broad.mit.edu	37	12	105380132	105380132	+	Start_Codon_SNP	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:105380132T>C	ENST00000552951.1	+	1	45	c.2T>C	c.(1-3)aTg>aCg	p.M1T	C12orf45_ENST00000280749.5_Start_Codon_SNP_p.M1T	NM_152318.2	NP_689531.2	Q8N5I9	CL045_HUMAN	chromosome 12 open reading frame 45	1										large_intestine(1)|lung(2)	3						GAGGGAAGCATGGAGGTCCAT	0.652																																							uc001tlb.2		NA																	0					0						c.(1-3)ATG>ACG		hypothetical protein LOC121053							20.0	25.0	23.0					12																	105380132		1944	4146	6090	SO:0001582	initiator_codon_variant	121053							g.chr12:105380132T>C	BC032326	CCDS41825.1	12q23.3	2012-05-30			ENSG00000151131	ENSG00000151131			28628	protein-coding gene	gene with protein product						12477932	Standard	NM_152318		Approved	MGC40397	uc001tlb.3	Q8N5I9	OTTHUMG00000169822	ENST00000552951.1:c.2T>C	12.37:g.105380132T>C	ENSP00000447057:p.Met1Thr						p.M1T	NM_152318	NP_689531	Q8N5I9	CL045_HUMAN			1	35	+			1						Missense_Mutation	SNP	ENST00000552951.1	37	c.2T>C	CCDS41825.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330896	0.60853	.	.	ENSG00000151131	ENST00000552951;ENST00000280749	T;T	0.38560	1.37;1.13	3.8	2.65	0.31530	.	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	.	.	.	0.80722	D	1	P	0.46512	0.879	B	0.42030	0.373	T	0.14531	-1.0469	9	0.87932	D	0	0.1473	5.7804	0.18304	0.0:0.1216:0.0:0.8784	.	1	Q8N5I9	CL045_HUMAN	T	1	ENSP00000447057:M1T;ENSP00000280749:M1T	ENSP00000280749:M1T	M	+	2	0	C12orf45	103904262	1.000000	0.71417	0.908000	0.35775	0.180000	0.23129	1.666000	0.37460	0.805000	0.34159	0.454000	0.30748	ATG		0.652	C12orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406076.1	NM_152318	Missense_Mutation	5	7	0	0	0	0.000602	0	5	7				
RNF10	9921	broad.mit.edu	37	12	121001687	121001687	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:121001687A>T	ENST00000325954.4	+	10	2067	c.1606A>T	c.(1606-1608)Agg>Tgg	p.R536W	RNF10_ENST00000413266.2_Missense_Mutation_p.R541W	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	536					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCCTGGAGAGGAGCCCCGA	0.567																																							uc001typ.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1606-1608)AGG>TGG		ring finger protein 10							149.0	139.0	143.0					12																	121001687		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001687A>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1606A>T	12.37:g.121001687A>T	ENSP00000322242:p.Arg536Trp					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R447W	p.R536W	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			10	2089	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		536					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1606A>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298917	0.60195	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T;T	0.17691	2.26;2.26;2.26	5.7	4.81	0.61882	.	0.327282	0.34314	N	0.004076	T	0.17704	0.0425	L	0.38175	1.15	0.30416	N	0.778545	P;P	0.48694	0.914;0.739	P;B	0.44623	0.455;0.191	T	0.03034	-1.1080	10	0.37606	T	0.19	.	13.9612	0.64180	0.3447:0.6553:0.0:0.0	.	541;536	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	W	536;536;541;80	ENSP00000322242:R536W;ENSP00000415682:R541W;ENSP00000439859:R80W	ENSP00000322242:R536W	R	+	1	2	RNF10	119486070	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.326000	0.43849	1.384000	0.46424	-0.460000	0.05396	AGG		0.567	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			33	77	0	0	0	0.004289	0	33	77				
TMEM132D	121256	broad.mit.edu	37	12	129563160	129563160	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr12:129563160G>A	ENST00000422113.2	-	8	2360	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	TMEM132D_ENST00000389441.4_Silent_p.L216L	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	678					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTGCAAGGAGAGTGACAGCC	0.572																																							uc009zyl.1		NA																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2032-2034)CTC>CTT		transmembrane protein 132D precursor							149.0	126.0	134.0					12																	129563160		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:129563160G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2034C>T	12.37:g.129563160G>A						TMEM132D_uc001uia.2_Silent_p.L216L	p.L678L	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2362	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	678			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.2034C>T	CCDS9266.1																																																																																				0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		13	60	0	0	0	0.001855	0	13	60				
USPL1	10208	broad.mit.edu	37	13	31205581	31205581	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr13:31205581C>G	ENST00000255304.4	+	4	1180	c.838C>G	c.(838-840)Cta>Gta	p.L280V	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	280	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAATACACTTCTATATACCAG	0.373																																					Ovarian(60;318 1180 1554 28110 31601)	Ovarian(60;318 1180 1554 28110 31601)	uc001utc.2		NA																	0				pancreas(2)|skin(1)	3						c.(838-840)CTA>GTA		ubiquitin specific peptidase like 1							69.0	72.0	71.0					13																	31205581		2203	4300	6503	SO:0001583	missense	10208				ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity	g.chr13:31205581C>G	X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.838C>G	13.37:g.31205581C>G	ENSP00000255304:p.Leu280Val					USPL1_uc001utb.2_Missense_Mutation_p.L99V|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	p.L280V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)	4	1270	+		Lung SC(185;0.0257)|Breast(139;0.203)	280					Q14109|Q6AI45|Q8IY30|Q8IYE8	Missense_Mutation	SNP	ENST00000255304.4	37	c.838C>G	CCDS9336.1	.	.	.	.	.	.	.	.	.	.	C	8.705	0.910716	0.17833	.	.	ENSG00000132952	ENST00000255304	T	0.03831	3.79	5.94	2.93	0.34026	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.304797	0.31381	N	0.007760	T	0.11367	0.0277	M	0.74881	2.28	0.09310	N	1	D	0.56521	0.976	P	0.56398	0.797	T	0.08554	-1.0716	10	0.40728	T	0.16	-10.1592	3.8118	0.08799	0.1188:0.5247:0.2059:0.1507	.	280	Q5W0Q7	USPL1_HUMAN	V	280	ENSP00000255304:L280V	ENSP00000255304:L280V	L	+	1	2	USPL1	30103581	0.009000	0.17119	0.084000	0.20598	0.006000	0.05464	0.343000	0.19944	1.521000	0.48983	-0.291000	0.09656	CTA		0.373	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044369.1	NM_005800		24	11	0	0	0	0.00278	0	24	11				
AKAP11	11215	broad.mit.edu	37	13	42877626	42877626	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr13:42877626C>G	ENST00000025301.2	+	8	4919	c.4744C>G	c.(4744-4746)Ctt>Gtt	p.L1582V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1582					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTGTCACCTCTTACAGGTCA	0.453																																							uc001uys.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(4744-4746)CTT>GTT		A-kinase anchor protein 11							86.0	81.0	83.0					13																	42877626		2203	4300	6503	SO:0001583	missense	11215				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	g.chr13:42877626C>G	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4744C>G	13.37:g.42877626C>G	ENSP00000025301:p.Leu1582Val						p.L1582V	NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)	8	4919	+		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)	1582					O75124|Q9NUK7	Missense_Mutation	SNP	ENST00000025301.2	37	c.4744C>G	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	7.175	0.588393	0.13812	.	.	ENSG00000023516	ENST00000025301	T	0.59638	0.25	5.58	4.73	0.59995	.	0.202642	0.33572	N	0.004773	T	0.65821	0.2728	M	0.69823	2.125	0.09310	N	1	D	0.59767	0.986	P	0.58520	0.84	T	0.58814	-0.7570	10	0.34782	T	0.22	.	7.619	0.28175	0.0:0.7455:0.0:0.2545	.	1582	Q9UKA4	AKA11_HUMAN	V	1582	ENSP00000025301:L1582V	ENSP00000025301:L1582V	L	+	1	0	AKAP11	41775626	0.039000	0.19947	0.939000	0.37840	0.572000	0.35998	0.984000	0.29565	2.604000	0.88044	0.655000	0.94253	CTT		0.453	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248		17	18	0	0	0	0.004007	0	17	18				
GPC6	10082	broad.mit.edu	37	13	95050757	95050757	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr13:95050757C>A	ENST00000377047.4	+	8	1942	c.1327C>A	c.(1327-1329)Cag>Aag	p.Q443K		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	443					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTCACCAACCAGATCAACAA	0.478																																							uc001vlt.2		NA																	0					0						c.(1327-1329)CAG>AAG		glypican 6 precursor							129.0	103.0	111.0					13																	95050757		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:95050757C>A	AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.1327C>A	13.37:g.95050757C>A	ENSP00000366246:p.Gln443Lys						p.Q443K	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN			8	1959	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)	443					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.1327C>A	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	C	33	5.280625	0.95489	.	.	ENSG00000183098	ENST00000377047	T	0.59364	0.27	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80607	0.4655	M	0.88640	2.97	0.47737	D	0.999503	D	0.71674	0.998	D	0.70016	0.967	D	0.83458	0.0052	10	0.62326	D	0.03	.	19.5463	0.95299	0.0:1.0:0.0:0.0	.	443	Q9Y625	GPC6_HUMAN	K	443	ENSP00000366246:Q443K	ENSP00000366246:Q443K	Q	+	1	0	GPC6	93848758	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.679000	0.91253	0.655000	0.94253	CAG		0.478	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		19	20	1	0	7.87624e-14	0.00278	9.66287e-14	19	20				
OR4M1	441670	broad.mit.edu	37	14	20248685	20248685	+	Silent	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:20248685C>A	ENST00000315957.4	+	1	285	c.204C>A	c.(202-204)ctC>ctA	p.L68L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGGCCCTCCTTGATATTT	0.423																																							uc010tku.1		NA																	0					0						c.(202-204)CTC>CTA		olfactory receptor, family 4, subfamily M,							299.0	318.0	312.0					14																	20248685		2203	4300	6503	SO:0001819	synonymous_variant	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20248685C>A		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.204C>A	14.37:g.20248685C>A							p.L68L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	204	+	all_cancers(95;0.00108)		68			Helical; Name=2; (Potential).		B9EH18|Q6IFA3	Silent	SNP	ENST00000315957.4	37	c.204C>A	CCDS32021.1																																																																																				0.423	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1			69	460	1	0	3.13743e-37	0.01441	4.04286e-37	69	460				
OR4K14	122740	broad.mit.edu	37	14	20482822	20482822	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:20482822G>A	ENST00000305045.2	-	1	530	c.531C>T	c.(529-531)agC>agT	p.S177S		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CACAGAAGAAGCTGTCTACCT	0.488																																							uc010tky.1		NA																	0				skin(2)|large_intestine(1)	3						c.(529-531)AGC>AGT		olfactory receptor, family 4, subfamily K,							84.0	82.0	83.0					14																	20482822		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482822G>A		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.531C>T	14.37:g.20482822G>A							p.S177S	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	531	-	all_cancers(95;0.00108)		177			Extracellular (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.531C>T	CCDS32027.1																																																																																				0.488	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			14	33	0	0	0	0.003163	0	14	33				
ACIN1	22985	broad.mit.edu	37	14	23530555	23530555	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:23530555G>T	ENST00000262710.1	-	17	3877	c.3550C>A	c.(3550-3552)Cgc>Agc	p.R1184S	ACIN1_ENST00000357481.2_Missense_Mutation_p.R426S|ACIN1_ENST00000557515.1_Missense_Mutation_p.R425S|ACIN1_ENST00000397341.3_Missense_Mutation_p.R426S|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1144S|ACIN1_ENST00000338631.6_Missense_Mutation_p.R457S|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1171S|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1126S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1184	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCTTGCGGCGGCGGTCACGG	0.562																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(3550-3552)CGC>AGC		apoptotic chromatin condensation inducer 1							146.0	153.0	150.0					14																	23530555		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530555G>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3550C>A	14.37:g.23530555G>T	ENSP00000262710:p.Arg1184Ser					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.R426S|ACIN1_uc001wiq.3_Missense_Mutation_p.R426S|ACIN1_uc001wir.3_Missense_Mutation_p.R457S|ACIN1_uc001wis.3_Missense_Mutation_p.R865S|ACIN1_uc010akg.2_Missense_Mutation_p.R1171S	p.R1184S	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3878	-	all_cancers(95;1.36e-05)		1184			Arg/Asp/Glu/Lys-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3550C>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960655	0.74016	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T;T;T;T;T	0.05447	3.44;3.44;3.44;3.44;3.44;3.44;3.44	4.79	4.79	0.61399	.	0.000000	0.40222	N	0.001157	T	0.11537	0.0281	L	0.43923	1.385	0.54753	D	0.999988	D;D;P;P;P	0.61080	0.989;0.981;0.947;0.872;0.872	P;P;P;B;B	0.58620	0.842;0.7;0.571;0.269;0.269	T	0.14868	-1.0457	10	0.08837	T	0.75	-5.8907	12.2289	0.54476	0.0:0.0:0.8295:0.1705	.	1171;1184;1144;457;426	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	S	425;457;426;1184;1144;426;1171	ENSP00000451138:R425S;ENSP00000345541:R457S;ENSP00000350073:R426S;ENSP00000262710:R1184S;ENSP00000405677:R1144S;ENSP00000380502:R426S;ENSP00000451328:R1171S	ENSP00000262710:R1184S	R	-	1	0	ACIN1	22600395	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.278000	0.33179	2.627000	0.88993	0.563000	0.77884	CGC		0.562	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		16	82	1	0	0.00316338	0.003163	0.00341218	16	82				
ACIN1	22985	broad.mit.edu	37	14	23549752	23549752	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:23549752C>G	ENST00000262710.1	-	6	1293	c.966G>C	c.(964-966)gaG>gaC	p.E322D	ACIN1_ENST00000457657.1_Missense_Mutation_p.E282D|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E322D|ACIN1_ENST00000605057.1_Missense_Mutation_p.E264D	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	322	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTTGGGTCTCTCATCCATCA	0.463																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(964-966)GAG>GAC		apoptotic chromatin condensation inducer 1							253.0	214.0	227.0					14																	23549752		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549752C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.966G>C	14.37:g.23549752C>G	ENSP00000262710:p.Glu322Asp					ACIN1_uc001wis.3_Missense_Mutation_p.E4D|ACIN1_uc010akg.2_Missense_Mutation_p.E322D|ACIN1_uc010tnj.1_Missense_Mutation_p.E282D	p.E322D	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1294	-	all_cancers(95;1.36e-05)		322			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.966G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	14.31	2.496967	0.44352	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.22743	1.94;1.94;1.94	5.02	4.12	0.48240	.	0.000000	0.41500	D	0.000861	T	0.16128	0.0388	N	0.24115	0.695	0.33238	D	0.556885	P;P;P	0.43788	0.729;0.61;0.817	B;B;B	0.43950	0.437;0.253;0.373	T	0.17471	-1.0368	10	0.39692	T	0.17	-14.2735	9.5283	0.39178	0.0:0.903:0.0:0.097	.	322;322;282	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	D	322;282;322	ENSP00000262710:E322D;ENSP00000405677:E282D;ENSP00000451328:E322D	ENSP00000262710:E322D	E	-	3	2	ACIN1	22619592	0.946000	0.32159	0.993000	0.49108	0.984000	0.73092	0.139000	0.16036	1.322000	0.45245	0.650000	0.86243	GAG		0.463	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		14	50	0	0	0	0.005443	0	14	50				
ACIN1	22985	broad.mit.edu	37	14	23549790	23549790	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:23549790C>G	ENST00000262710.1	-	6	1255	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	ACIN1_ENST00000457657.1_Missense_Mutation_p.E270Q|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Missense_Mutation_p.E310Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E252Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	310	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTAGGTATCTCTTCCCCTTCT	0.458																																							uc001wit.3		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(928-930)GAG>CAG		apoptotic chromatin condensation inducer 1							237.0	208.0	218.0					14																	23549790		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23549790C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.928G>C	14.37:g.23549790C>G	ENSP00000262710:p.Glu310Gln					ACIN1_uc001wis.3_5'UTR|ACIN1_uc010akg.2_Missense_Mutation_p.E310Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E270Q	p.E310Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	6	1256	-	all_cancers(95;1.36e-05)		310			Glu-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.928G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083616	0.55861	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.28666	1.6;1.6;1.6	4.87	4.87	0.63330	.	0.000000	0.41396	D	0.000885	T	0.41026	0.1141	L	0.27053	0.805	0.26807	N	0.969082	D;D	0.67145	0.996;0.993	D;D	0.75484	0.986;0.968	T	0.21861	-1.0233	10	0.27785	T	0.31	-13.3895	15.5431	0.76070	0.0:1.0:0.0:0.0	.	310;310	G3V3M7;Q9UKV3	.;ACINU_HUMAN	Q	310;270;310	ENSP00000262710:E310Q;ENSP00000405677:E270Q;ENSP00000451328:E310Q	ENSP00000262710:E310Q	E	-	1	0	ACIN1	22619630	0.718000	0.27976	0.213000	0.23690	0.932000	0.56968	3.682000	0.54656	2.537000	0.85549	0.650000	0.86243	GAG		0.458	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		19	58	0	0	0	0.003271	0	19	58				
DAAM1	23002	broad.mit.edu	37	14	59830421	59830421	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:59830421C>G	ENST00000395125.1	+	23	2800	c.2777C>G	c.(2776-2778)tCt>tGt	p.S926C	DAAM1_ENST00000360909.3_Missense_Mutation_p.S916C|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.S926C	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	926	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AAGTTTGTGTCTGTTGTCAGC	0.463																																							uc001xdz.1		NA																	0				ovary(1)	1						c.(2776-2778)TCT>TGT		dishevelled-associated activator of							129.0	116.0	120.0					14																	59830421		2203	4300	6503	SO:0001583	missense	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59830421C>G	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2777C>G	14.37:g.59830421C>G	ENSP00000378557:p.Ser926Cys					DAAM1_uc001xea.1_Missense_Mutation_p.S916C|DAAM1_uc001xec.1_RNA	p.S926C	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	24	2902	+			926			FH2.		Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	c.2777C>G	CCDS9737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.066148|5.066148	0.93898|0.93898	.|.	.|.	ENSG00000100592|ENSG00000100592	ENST00000358498|ENST00000360909;ENST00000351081;ENST00000395125	.|T;T;T	.|0.19394	.|2.15;2.15;2.15	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.50514|0.50514	0.1620|0.1620	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.995;0.999	.|P;D	.|0.71656	.|0.757;0.974	T|T	0.48234|0.48234	-0.9053|-0.9053	6|10	0.31617|0.59425	T|D	0.26|0.04	.|.	20.0693|20.0693	0.97712|0.97712	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|916;926	.|Q9Y4D1-2;Q9Y4D1	.|.;DAAM1_HUMAN	V|C	875|916;926;926	.|ENSP00000354162:S916C;ENSP00000247170:S926C;ENSP00000378557:S926C	ENSP00000351287:L875V|ENSP00000247170:S926C	L|S	+|+	1|2	2|0	DAAM1|DAAM1	58900174|58900174	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.993000|0.993000	0.82548|0.82548	5.970000|5.970000	0.70431|0.70431	2.758000|2.758000	0.94735|0.94735	0.563000|0.563000	0.77884|0.77884	CTG|TCT		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992		23	23	0	0	0	0.00278	0	23	23				
SIPA1L1	26037	broad.mit.edu	37	14	72169178	72169178	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:72169178C>T	ENST00000555818.1	+	12	3950	c.3602C>T	c.(3601-3603)aCg>aTg	p.T1201M	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1201M|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T676M|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1201					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAAAATCCACGCCTAGCTGG	0.478																																							uc001xms.2		NA																	0				ovary(3)|breast(1)	4						c.(3601-3603)ACG>ATG		signal-induced proliferation-associated 1 like							122.0	103.0	109.0					14																	72169178		2203	4300	6503	SO:0001583	missense	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72169178C>T	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.3602C>T	14.37:g.72169178C>T	ENSP00000450832:p.Thr1201Met					SIPA1L1_uc001xmt.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmu.2_Missense_Mutation_p.T1201M|SIPA1L1_uc001xmv.2_Missense_Mutation_p.T1201M|SIPA1L1_uc010ttm.1_Missense_Mutation_p.T676M|SIPA1L1_uc001xmw.2_Translation_Start_Site	p.T1201M	NM_015556	NP_056371	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	12	3950	+			1201					J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	c.3602C>T	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738649	0.49045	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.02	5.14	0.70334	.	0.417428	0.29321	N	0.012489	T	0.59959	0.2232	L	0.51422	1.61	0.51767	D	0.999934	D;D;D;D;D	0.89917	0.994;1.0;0.99;0.994;1.0	P;D;P;P;D	0.63192	0.804;0.912;0.642;0.669;0.912	T	0.61043	-0.7142	10	0.51188	T	0.08	-19.0983	13.8237	0.63338	0.0:0.9295:0.0:0.0705	.	676;1201;676;1201;1201	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	M	1201;1201;1201;676	ENSP00000370630:T1201M;ENSP00000450832:T1201M;ENSP00000351352:T1201M;ENSP00000440682:T676M	ENSP00000351352:T1201M	T	+	2	0	SIPA1L1	71238931	1.000000	0.71417	0.991000	0.47740	0.023000	0.10783	4.872000	0.63050	1.561000	0.49584	-0.143000	0.13931	ACG		0.478	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		25	28	0	0	0	0.00333	0	25	28				
SERPINA12	145264	broad.mit.edu	37	14	94962778	94962778	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:94962778C>A	ENST00000341228.2	-	4	1632	c.837G>T	c.(835-837)aaG>aaT	p.K279N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.K279N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	279					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGTGCTTCAGCTTGCCCTCAT	0.473																																							uc001ydj.2		NA																	0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(835-837)AAG>AAT		serine (or cysteine) proteinase inhibitor, clade							186.0	175.0	179.0					14																	94962778		2203	4300	6503	SO:0001583	missense	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94962778C>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.837G>T	14.37:g.94962778C>A	ENSP00000342109:p.Lys279Asn						p.K279N	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	4	1633	-			279						Missense_Mutation	SNP	ENST00000341228.2	37	c.837G>T	CCDS9926.1	.	.	.	.	.	.	.	.	.	.	C	9.671	1.146665	0.21288	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.88124	-2.34;-2.34	5.46	-4.23	0.03789	Serpin domain (3);	0.372260	0.25912	N	0.027497	T	0.80014	0.4546	L	0.52266	1.64	0.24157	N	0.99567	B	0.21309	0.054	B	0.30572	0.117	T	0.68823	-0.5307	10	0.54805	T	0.06	.	6.6497	0.22955	0.0:0.2793:0.2174:0.5034	.	279	Q8IW75	SPA12_HUMAN	N	279	ENSP00000451738:K279N;ENSP00000342109:K279N	ENSP00000342109:K279N	K	-	3	2	SERPINA12	94032531	0.002000	0.14202	0.021000	0.16686	0.291000	0.27294	-1.028000	0.03589	-0.668000	0.05296	0.561000	0.74099	AAG		0.473	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850		50	71	1	0	3.94638e-17	0.01441	4.95232e-17	50	71				
MTA1	9112	broad.mit.edu	37	14	105911754	105911754	+	Splice_Site	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr14:105911754G>C	ENST00000331320.7	+	3	310		c.e3-1		MTA1_ENST00000406191.1_Splice_Site|MTA1_ENST00000405646.1_Splice_Site	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1						circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGTTACAGACGGCCAATG	0.647																																							uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.e3-1		metastasis associated protein							123.0	88.0	100.0					14																	105911754		2203	4300	6503	SO:0001630	splice_region_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105911754G>C	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.97-1G>C	14.37:g.105911754G>C						MTA1_uc001yqy.2_Splice_Site|MTA1_uc001yqz.1_Splice_Site|MTA1_uc001yra.1_Splice_Site	p.T33_splice	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	3	284	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)						A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Splice_Site	SNP	ENST00000331320.7	37	c.97_splice	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359127	0.61403	.	.	ENSG00000182979	ENST00000331320;ENST00000406191;ENST00000405646	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4783	0.75504	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTA1	104982799	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	7.684000	0.84104	2.063000	0.61619	0.484000	0.47621	.		0.647	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15		Intron	20	50	0	0	0	0.014323	0	20	50				
HERC2	8924	broad.mit.edu	37	15	28517458	28517458	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:28517458G>C	ENST00000261609.7	-	9	1094	c.986C>G	c.(985-987)tCc>tGc	p.S329C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.S329F(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCCCTGGGCGGAACGCTCATT	0.542																																							uc001zbj.2		NA																	1	Substitution - Missense(1)		cervix(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(985-987)TCC>TGC		hect domain and RLD 2							67.0	53.0	58.0					15																	28517458		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28517458G>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.986C>G	15.37:g.28517458G>C	ENSP00000261609:p.Ser329Cys					HERC2_uc001zbl.1_Missense_Mutation_p.S24C	p.S329C	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	9	1092	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	329						Missense_Mutation	SNP	ENST00000261609.7	37	c.986C>G	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849811	0.91277	.	.	ENSG00000128731	ENST00000261609	T	0.39592	1.07	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.48995	0.1531	L	0.40543	1.245	0.58432	D	0.999999	P	0.44578	0.838	P	0.49708	0.62	T	0.42137	-0.9469	10	0.51188	T	0.08	.	19.5567	0.95351	0.0:0.0:1.0:0.0	.	329	O95714	HERC2_HUMAN	C	329	ENSP00000261609:S329C	ENSP00000261609:S329C	S	-	2	0	HERC2	26191053	1.000000	0.71417	0.460000	0.27093	0.980000	0.70556	9.794000	0.99096	2.641000	0.89580	0.650000	0.86243	TCC		0.542	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		5	23	0	0	0	0.000602	0	5	23				
C15orf54	400360	broad.mit.edu	37	15	39544847	39544847	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:39544847G>A	ENST00000318578.3	+	2	879	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.E171K|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	171										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TCATTTCATTGAAGTGTTCAA	0.453																																							uc001zkg.2		NA																	0					0						c.(511-513)GAA>AAA		hypothetical protein LOC400360							79.0	68.0	72.0					15																	39544847		2200	4297	6497	SO:0001583	missense	400360							g.chr15:39544847G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.511G>A	15.37:g.39544847G>A	ENSP00000323686:p.Glu171Lys						p.E171K	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	879	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	171					B7ZVZ9	Missense_Mutation	SNP	ENST00000318578.3	37	c.511G>A	CCDS10049.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757372	0.31137	.	.	ENSG00000175746	ENST00000318578	T	0.38240	1.15	4.4	1.4	0.22301	.	.	.	.	.	T	0.18341	0.0440	N	0.08118	0	0.09310	N	1	B	0.20550	0.046	B	0.19666	0.026	T	0.22103	-1.0226	9	0.87932	D	0	.	6.1205	0.20150	0.3474:0.0:0.6526:0.0	.	171	Q8N8G6	CO054_HUMAN	K	171	ENSP00000323686:E171K	ENSP00000323686:E171K	E	+	1	0	C15orf54	37332139	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.391000	0.07323	0.191000	0.20236	-0.140000	0.14226	GAA		0.453	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		22	38	0	0	0	0.012319	0	22	38				
CDAN1	146059	broad.mit.edu	37	15	43020852	43020852	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:43020852C>T	ENST00000356231.3	-	20	2825	c.2802G>A	c.(2800-2802)cgG>cgA	p.R934R		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	934					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CTGCTTACTCCCGCCCCAGGG	0.557																																							uc001zql.2		NA																	0				ovary(2)	2						c.(2800-2802)CGG>CGA		codanin 1							62.0	62.0	62.0					15																	43020852		2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43020852C>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2802G>A	15.37:g.43020852C>T						CDAN1_uc001zqj.2_RNA|CDAN1_uc001zqk.2_Silent_p.R260R	p.R934R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	20	2919	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	934					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.2802G>A	CCDS32209.1																																																																																				0.557	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		18	42	0	0	0	0.010504	0	18	42				
CILP	8483	broad.mit.edu	37	15	65499247	65499247	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:65499247C>A	ENST00000261883.4	-	4	463	c.297G>T	c.(295-297)tgG>tgT	p.W99C		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	99					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCGCAGGTGTCCAGTCAGTGG	0.632																																							uc002aon.2		NA																	0				ovary(4)|pancreas(2)|skin(1)	7						c.(295-297)TGG>TGT		cartilage intermediate layer protein							36.0	33.0	34.0					15																	65499247		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499247C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.297G>T	15.37:g.65499247C>A	ENSP00000261883:p.Trp99Cys						p.W99C	NM_003613	NP_003604	O75339	CILP1_HUMAN			4	478	-			99					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.297G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251739	0.80135	.	.	ENSG00000138615	ENST00000261883	T	0.16743	2.32	5.58	5.58	0.84498	.	0.055301	0.85682	D	0.000000	T	0.45377	0.1339	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.42378	-0.9455	10	0.87932	D	0	-1.4938	17.0674	0.86563	0.0:1.0:0.0:0.0	.	99	O75339	CILP1_HUMAN	C	99	ENSP00000261883:W99C	ENSP00000261883:W99C	W	-	3	0	CILP	63286300	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	7.709000	0.84645	2.619000	0.88677	0.561000	0.74099	TGG		0.632	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		12	17	1	0	3.07112e-06	0.010729	3.44827e-06	12	17				
HCN4	10021	broad.mit.edu	37	15	73614946	73614946	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:73614946G>T	ENST00000261917.3	-	8	4481	c.3488C>A	c.(3487-3489)cCc>cAc	p.P1163H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1163					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AGACAGAGGGGGTGGCAAAGA	0.677																																							uc002avp.2		NA																	0				ovary(5)|liver(1)	6						c.(3487-3489)CCC>CAC		hyperpolarization activated cyclic							27.0	26.0	26.0					15																	73614946		2195	4296	6491	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73614946G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.3488C>A	15.37:g.73614946G>T	ENSP00000261917:p.Pro1163His						p.P1163H	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	4482	-			1163			Cytoplasmic (Potential).		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.3488C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	3.713	-0.059185	0.07317	.	.	ENSG00000138622	ENST00000261917	D	0.97041	-4.22	3.4	2.46	0.29980	.	.	.	.	.	D	0.94159	0.8126	L	0.54323	1.7	0.22754	N	0.998772	B	0.09022	0.002	B	0.04013	0.001	D	0.87613	0.2505	9	0.44086	T	0.13	.	5.8355	0.18605	0.0:0.1843:0.5199:0.2957	.	1163	Q9Y3Q4	HCN4_HUMAN	H	1163	ENSP00000261917:P1163H	ENSP00000261917:P1163H	P	-	2	0	HCN4	71401999	1.000000	0.71417	0.799000	0.32177	0.002000	0.02628	3.933000	0.56545	0.602000	0.29896	-0.556000	0.04195	CCC		0.677	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		11	10	1	0	2.80697e-09	0.010729	3.30637e-09	11	10				
ISLR2	57611	broad.mit.edu	37	15	74425518	74425518	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:74425518C>T	ENST00000361742.3	+	4	1192	c.423C>T	c.(421-423)gaC>gaT	p.D141D	ISLR2_ENST00000565159.1_Silent_p.D141D|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Silent_p.D141D|ISLR2_ENST00000435464.1_Silent_p.D141D|ISLR2_ENST00000445793.1_Silent_p.D141D|ISLR2_ENST00000419208.1_Silent_p.D141D|ISLR2_ENST00000453268.2_Silent_p.D141D	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	141					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCCCCGGGACGCACTCGGTG	0.637																																							uc002axd.2		NA																	0					0						c.(421-423)GAC>GAT		immunoglobulin superfamily containing							54.0	56.0	55.0					15																	74425518		2198	4297	6495	SO:0001819	synonymous_variant	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425518C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.423C>T	15.37:g.74425518C>T						ISLR2_uc002axe.2_Silent_p.D141D|ISLR2_uc010bjg.2_Silent_p.D141D|ISLR2_uc010bjf.2_Silent_p.D141D	p.D141D	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1192	+			141			LRR 4.|Extracellular (Potential).		A8K352|Q9P263	Silent	SNP	ENST00000361742.3	37	c.423C>T	CCDS10259.1																																																																																				0.637	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		10	104	0	0	0	0.006214	0	10	104				
ALPK3	57538	broad.mit.edu	37	15	85411403	85411403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:85411403C>T	ENST00000258888.5	+	14	5607	c.5440C>T	c.(5440-5442)Cag>Tag	p.Q1814*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1814	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.				heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCCTCCCACCAGTGCAATGC	0.632																																							uc002ble.2		NA																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(5440-5442)CAG>TAG		alpha-kinase 3							104.0	116.0	112.0					15																	85411403		2203	4299	6502	SO:0001587	stop_gained	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85411403C>T	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.5440C>T	15.37:g.85411403C>T	ENSP00000258888:p.Gln1814*					ALPK3_uc010upc.1_Nonsense_Mutation_p.Q115*	p.Q1814*	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		14	5607	+			1814			Alpha-type protein kinase.		Q9P2L6	Nonsense_Mutation	SNP	ENST00000258888.5	37	c.5440C>T	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	C	44	11.233315	0.99534	.	.	ENSG00000136383	ENST00000258888	.	.	.	4.66	2.67	0.31697	.	0.320173	0.30575	N	0.009337	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-6.3495	11.3103	0.49360	0.3306:0.6694:0.0:0.0	.	.	.	.	X	1814	.	ENSP00000258888:Q1814X	Q	+	1	0	ALPK3	83212407	1.000000	0.71417	0.995000	0.50966	0.857000	0.48899	3.527000	0.53517	0.611000	0.30052	0.561000	0.74099	CAG		0.632	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		118	134	0	0	0	0.01441	0	118	134				
NTRK3	4916	broad.mit.edu	37	15	88423650	88423650	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:88423650G>A	ENST00000360948.2	-	18	2346	c.2185C>T	c.(2185-2187)Cac>Tac	p.H729Y	NTRK3_ENST00000357724.2_Missense_Mutation_p.H721Y|NTRK3_ENST00000557856.1_Missense_Mutation_p.H707Y|NTRK3_ENST00000394480.2_Missense_Mutation_p.H715Y|NTRK3_ENST00000355254.2_Missense_Mutation_p.H715Y	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	729	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCATGGTGTGTCCTCCCACC	0.507			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																													uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(2185-2187)CAC>TAC		neurotrophic tyrosine kinase, receptor, type 3							86.0	70.0	76.0					15																	88423650		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88423650G>A	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2185C>T	15.37:g.88423650G>A	ENSP00000354207:p.His729Tyr	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.H707Y|NTRK3_uc002bmf.1_Missense_Mutation_p.H715Y	p.H729Y	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2347	-			729			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.2185C>T	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401419	0.83120	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88500	0.6453	L	0.47016	1.485	0.80722	D	1	D;D;D	0.69078	0.997;0.991;0.997	D;D;D	0.70227	0.968;0.946;0.968	D	0.89244	0.3586	10	0.72032	D	0.01	.	17.9204	0.88964	0.0:0.0:1.0:0.0	.	707;715;729	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	Y	715;729;721;715	ENSP00000377990:H715Y;ENSP00000354207:H729Y;ENSP00000350356:H721Y;ENSP00000347397:H715Y	ENSP00000347397:H715Y	H	-	1	0	NTRK3	86224654	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	7.637000	0.83313	2.562000	0.86427	0.655000	0.94253	CAC		0.507	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				4	51	0	0	0	0.000602	0	4	51				
UNC45A	55898	broad.mit.edu	37	15	91479540	91479540	+	Silent	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr15:91479540C>G	ENST00000418476.2	+	4	316	c.276C>G	c.(274-276)gtC>gtG	p.V92V	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Silent_p.V77V|AC068831.3_ENST00000438890.1_RNA|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	92					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGGGGATGTCAAAGCACTCT	0.577																																							uc002bqg.2		NA																	0				ovary(2)	2						c.(274-276)GTC>GTG		smooth muscle cell associated protein-1 isoform							65.0	68.0	67.0					15																	91479540		2198	4298	6496	SO:0001819	synonymous_variant	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91479540C>G		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.276C>G	15.37:g.91479540C>G						UNC45A_uc002bqd.2_Silent_p.V77V|UNC45A_uc010uqo.1_Silent_p.V84V|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Silent_p.V92V	p.V92V	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		4	616	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		92			TPR 3.		A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	ENST00000418476.2	37	c.276C>G	CCDS10367.1																																																																																				0.577	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		42	69	0	0	0	0.01441	0	42	69				
OR1F2P	26184	broad.mit.edu	37	16	3266186	3266186	+	RNA	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:3266186C>A	ENST00000576468.1	+	0	418																											CAGACACACACCTCAGTGAAG	0.522																																							uc010uwv.1		NA																	0					0						c.(475-477)CAC>CAA		RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2;																																						26184							g.chr16:3266186C>A																													16.37:g.3266186C>A							p.H159Q	NR_002169						1	625	+									Missense_Mutation	SNP	ENST00000576468.1	37	c.477C>A																																																																																					0.522	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			32	31	1	0	5.45727e-16	0.008361	6.80387e-16	32	31				
DNAH3	55567	broad.mit.edu	37	16	20996669	20996669	+	Silent	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:20996669T>C	ENST00000261383.3	-	48	7394	c.7395A>G	c.(7393-7395)gcA>gcG	p.A2465A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2465	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTCATTGCCTGCGTAGTTCT	0.537																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7393-7395)GCA>GCG		dynein, axonemal, heavy chain 3							84.0	61.0	69.0					16																	20996669		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20996669T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7395A>G	16.37:g.20996669T>C						DNAH3_uc010vbd.1_5'Flank	p.A2465A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7395	-			2465			AAA 4 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.7395A>G	CCDS10594.1																																																																																				0.537	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		31	14	0	0	0	0.007291	0	31	14				
DNAH3	55567	broad.mit.edu	37	16	21069459	21069459	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:21069459G>T	ENST00000261383.3	-	27	3871	c.3872C>A	c.(3871-3873)tCc>tAc	p.S1291Y	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1291Y	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1291	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCAAAAGATGGAGGAGACACA	0.488																																							uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3871-3873)TCC>TAC		dynein, axonemal, heavy chain 3							90.0	87.0	88.0					16																	21069459		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21069459G>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3872C>A	16.37:g.21069459G>T	ENSP00000261383:p.Ser1291Tyr						p.S1291Y	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	27	3872	-			1291			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3872C>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.919708	0.33908	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.60171	0.21;0.21	5.37	4.4	0.53042	.	0.129270	0.52532	D	0.000061	T	0.69477	0.3115	M	0.80982	2.52	0.44302	D	0.997178	P	0.49961	0.93	P	0.50049	0.629	T	0.76487	-0.2941	10	0.72032	D	0.01	.	16.5329	0.84366	0.0:0.1307:0.8693:0.0	.	1291	Q8TD57	DYH3_HUMAN	Y	1291	ENSP00000261383:S1291Y;ENSP00000394245:S1291Y	ENSP00000261383:S1291Y	S	-	2	0	DNAH3	20976960	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.972000	0.49256	1.370000	0.46153	0.585000	0.79938	TCC		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		8	44	1	0	0.00621372	0.006214	0.00668366	8	44				
RABEP2	79874	broad.mit.edu	37	16	28916339	28916339	+	Silent	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:28916339A>G	ENST00000358201.4	-	13	2223	c.1635T>C	c.(1633-1635)gcT>gcC	p.A545A	RABEP2_ENST00000357573.6_Silent_p.A509A|RABEP2_ENST00000544477.1_Silent_p.A474A	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	545					endocytosis (GO:0006897)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCAGGGTCTCAGCCTGGCGGA	0.652																																					Pancreas(66;639 1284 10093 31061 49099)	Pancreas(66;639 1284 10093 31061 49099)	uc002drq.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(1633-1635)GCT>GCC		rabaptin, RAB GTPase binding effector protein 2							47.0	54.0	51.0					16																	28916339		2098	4224	6322	SO:0001819	synonymous_variant	79874				endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity	g.chr16:28916339A>G	AK026935	CCDS42140.1	16p11.2	2014-09-11			ENSG00000177548	ENSG00000177548			24817	protein-coding gene	gene with protein product		611869				12477932	Standard	NM_024816		Approved	FRA, FLJ23282	uc002drq.3	Q9H5N1	OTTHUMG00000176593	ENST00000358201.4:c.1635T>C	16.37:g.28916339A>G						uc010vct.1_Intron|RABEP2_uc010vdf.1_Silent_p.A474A|RABEP2_uc010byn.2_Silent_p.A509A	p.A545A	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN			13	1683	-			545						Silent	SNP	ENST00000358201.4	37	c.1635T>C	CCDS42140.1																																																																																				0.652	RABEP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432691.1	NM_024816		18	17	0	0	0	0.007413	0	18	17				
HSD3B7	80270	broad.mit.edu	37	16	30999232	30999232	+	Nonsense_Mutation	SNP	G	G	T	rs199637063		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:30999232G>T	ENST00000297679.5	+	7	931	c.838G>T	c.(838-840)Gga>Tga	p.G280*	HSD3B7_ENST00000262520.6_3'UTR|AC135048.1_ENST00000602217.1_5'Flank|HSD3B7_ENST00000353250.5_3'UTR	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	280					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity (GO:0047016)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGCCCCTGCGGACTGCGGCT	0.642																																							uc002eaf.2		NA																	0					0						c.(838-840)GGA>TGA		hydroxy-delta-5-steroid dehydrogenase, 3 beta-							107.0	112.0	110.0					16																	30999232		2197	4300	6497	SO:0001587	stop_gained	80270				bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	g.chr16:30999232G>T	AF277719	CCDS10698.1, CCDS45466.1	16p11.2	2011-09-14			ENSG00000099377	ENSG00000099377	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	18324	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 11E, member 3"""	607764				11067870, 19027726	Standard	NM_001142777		Approved	C(27)-3BETA-HSD, SDR11E3	uc002eaf.2	Q9H2F3	OTTHUMG00000132417	ENST00000297679.5:c.838G>T	16.37:g.30999232G>T	ENSP00000297679:p.Gly280*					HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Nonsense_Mutation_p.G280*	p.G280*	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN			7	944	+			280					Q96M28|Q9BSN9	Nonsense_Mutation	SNP	ENST00000297679.5	37	c.838G>T	CCDS10698.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329994	0.81690	.	.	ENSG00000099377	ENST00000297679	.	.	.	5.1	5.1	0.69264	.	0.198119	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.0268	17.2911	0.87157	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000297679:G280X	G	+	1	0	HSD3B7	30906733	0.985000	0.35326	0.945000	0.38365	0.607000	0.37147	2.944000	0.49034	2.362000	0.80069	0.655000	0.94253	GGA		0.642	HSD3B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255554.2			114	76	1	0	4.37143e-48	0.01441	5.67104e-48	114	76				
ZNF423	23090	broad.mit.edu	37	16	49672682	49672682	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:49672682G>A	ENST00000561648.1	-	4	434	c.381C>T	c.(379-381)ctC>ctT	p.L127L	ZNF423_ENST00000562520.1_Silent_p.L67L|ZNF423_ENST00000567169.1_Silent_p.L10L|ZNF423_ENST00000262383.2_Silent_p.L127L|ZNF423_ENST00000535559.1_Silent_p.L10L|ZNF423_ENST00000563137.2_Silent_p.L67L|ZNF423_ENST00000562871.1_Silent_p.L67L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	127					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CCTCCTCGCCGAGGCCGAGGT	0.602																																							uc002efs.2		NA																	0				ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(379-381)CTC>CTT		zinc finger protein 423							59.0	56.0	57.0					16																	49672682		2198	4300	6498	SO:0001819	synonymous_variant	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49672682G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.381C>T	16.37:g.49672682G>A						ZNF423_uc010vgn.1_Silent_p.L10L	p.L127L	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	679	-		all_cancers(37;0.0155)	127					O94860|Q76N04|Q9NZ13	Silent	SNP	ENST00000561648.1	37	c.381C>T	CCDS32445.1																																																																																				0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		28	15	0	0	0	0.005443	0	28	15				
PDPR	55066	broad.mit.edu	37	16	70166109	70166109	+	Silent	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:70166109G>T	ENST00000288050.4	+	9	1860	c.903G>T	c.(901-903)ctG>ctT	p.L301L	PDPR_ENST00000398122.3_Silent_p.L201L|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000568530.1_Silent_p.L301L	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	301					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GTGGCATCCTGTCTGGGGGCT	0.468																																							uc002eyf.1		NA																	0				breast(1)	1						c.(901-903)CTG>CTT		pyruvate dehydrogenase phosphatase regulatory							64.0	64.0	64.0					16																	70166109		1851	4093	5944	SO:0001819	synonymous_variant	55066				glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity	g.chr16:70166109G>T		CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.903G>T	16.37:g.70166109G>T						CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Silent_p.L201L|PDPR_uc002eyg.1_Silent_p.L29L	p.L301L	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.124)	9	1860	+			301					A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	c.903G>T	CCDS45520.1																																																																																				0.468	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990		23	59	1	0	3.62531e-18	0.004289	4.56432e-18	23	59				
MTHFSD	64779	broad.mit.edu	37	16	86565716	86565716	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:86565716G>A	ENST00000360900.6	-	8	1078	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	MTHFSD_ENST00000381214.5_Silent_p.D351D|MTHFSD_ENST00000546093.1_Silent_p.D188D|MTHFSD_ENST00000322911.6_Silent_p.D350D|MTHFSD_ENST00000543303.2_Silent_p.D350D	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	351	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						CTGCGGCAGAGTCCGGGTAAT	0.701																																							uc002fjn.2		NA																	0					0						c.(1051-1053)GAC>GAT		methenyltetrahydrofolate synthetase domain							8.0	10.0	9.0					16																	86565716		1874	4060	5934	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86565716G>A	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.1053C>T	16.37:g.86565716G>A						MTHFSD_uc010voo.1_Silent_p.D331D|MTHFSD_uc002fjo.2_Silent_p.D188D|MTHFSD_uc002fjm.2_Silent_p.D350D|MTHFSD_uc010vop.1_Silent_p.D188D|MTHFSD_uc010voq.1_Silent_p.D350D|MTHFSD_uc010vor.1_Silent_p.D351D	p.D351D	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			8	1104	-			351			RRM.		A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.1053C>T	CCDS54047.1																																																																																				0.701	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		7	20	0	0	0	0.001984	0	7	20				
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACACGCACCTCAAAGCTGTTC	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	10	0	0	0	0.001855	0	14	10				
MYOCD	93649	broad.mit.edu	37	17	12666905	12666905	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:12666905G>C	ENST00000343344.4	+	13	2761	c.2761G>C	c.(2761-2763)Gat>Cat	p.D921H	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000425538.1_Missense_Mutation_p.D969H			Q8IZQ8	MYCD_HUMAN	myocardin	921					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CGATTTCCTGGATGTCACTGA	0.512																																							uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2761-2763)GAT>CAT		myocardin isoform 2							56.0	52.0	53.0					17																	12666905		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666905G>C	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2761G>C	17.37:g.12666905G>C	ENSP00000341835:p.Asp921His					MYOCD_uc002gno.2_Missense_Mutation_p.D969H|MYOCD_uc002gnq.2_Missense_Mutation_p.D645H	p.D921H	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	3060	+			921					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2761G>C	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675779	0.88445	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.78924	-1.22;-1.14	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.89291	0.6673	M	0.79693	2.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89459	0.3735	10	0.87932	D	0	-26.2618	19.4349	0.94788	0.0:0.0:1.0:0.0	.	645;969;921	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	H	645;969;921;631	ENSP00000341835:D921H;ENSP00000400148:D631H	ENSP00000341835:D921H	D	+	1	0	MYOCD	12607630	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	9.414000	0.97362	2.894000	0.99253	0.655000	0.94253	GAT		0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		3	34	0	0	0	0.004672	0	3	34				
ELAC2	60528	broad.mit.edu	37	17	12905612	12905612	+	Missense_Mutation	SNP	C	C	A	rs376713626		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:12905612C>A	ENST00000338034.4	-	14	1522	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L	ELAC2_ENST00000395962.2_Missense_Mutation_p.R409L|ELAC2_ENST00000609345.1_5'Flank|ELAC2_ENST00000426905.3_Missense_Mutation_p.R388L	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	428					mitochondrial tRNA 3'-trailer cleavage, endonucleolytic (GO:0072684)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCTCCTGGGACGGAGCTGGTA	0.493																																							uc002gnz.3		NA																	0					0						c.(1282-1284)CGT>CTT		elaC homolog 2 isoform 1							76.0	72.0	74.0					17																	12905612		2203	4300	6503	SO:0001583	missense	60528	Hereditary_Prostate_Cancer			tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	g.chr17:12905612C>A	AF304370	CCDS11164.1, CCDS54093.1	17p11.2	2013-05-24	2013-05-24		ENSG00000006744	ENSG00000006744	3.1.26.11		14198	protein-coding gene	gene with protein product	"""tRNase Z (long form)"""	605367	"""elaC (E. coli) homolog 2"", ""elaC homolog 2 (E. coli)"""			10986046, 16636667, 21559454	Standard	NM_018127		Approved	FLJ10530, HPC2	uc010vvr.2	Q9BQ52	OTTHUMG00000058764	ENST00000338034.4:c.1283G>T	17.37:g.12905612C>A	ENSP00000337445:p.Arg428Leu					ELAC2_uc002gnu.3_5'Flank|ELAC2_uc002gnv.3_Missense_Mutation_p.R56L|ELAC2_uc002gnw.3_Missense_Mutation_p.R86L|ELAC2_uc002gnx.3_Missense_Mutation_p.R188L|ELAC2_uc010vvo.1_Missense_Mutation_p.R226L|ELAC2_uc010vvp.1_Missense_Mutation_p.R409L|ELAC2_uc010vvq.1_Missense_Mutation_p.R427L|ELAC2_uc010vvr.1_Missense_Mutation_p.R388L	p.R428L	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN			14	1378	-			428					B4DPL9|Q6IA94|Q9HAS8|Q9HAS9|Q9NVT1	Missense_Mutation	SNP	ENST00000338034.4	37	c.1283G>T	CCDS11164.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428418	0.62844	.	.	ENSG00000006744	ENST00000426905;ENST00000338034;ENST00000395962;ENST00000457438	T;T;T	0.67523	0.18;-0.26;-0.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83663	0.5303	M	0.85945	2.785	0.80722	D	1	D;P;D;P;D;D;D;D	0.89917	0.999;0.951;0.999;0.901;1.0;0.989;1.0;1.0	D;B;D;P;D;P;D;D	0.81914	0.981;0.442;0.986;0.483;0.981;0.781;0.995;0.991	D	0.84146	0.0420	10	0.48119	T	0.1	-22.1063	17.5547	0.87887	0.0:1.0:0.0:0.0	.	388;411;409;226;428;188;413;56	B4DPL9;E9PGJ0;G5E9D5;E7ES68;Q9BQ52;B3KSU9;B4DT15;Q9BQ52-3	.;.;.;.;RNZ2_HUMAN;.;.;.	L	388;428;409;106	ENSP00000405223:R388L;ENSP00000337445:R428L;ENSP00000379291:R409L	ENSP00000337445:R428L	R	-	2	0	ELAC2	12846337	1.000000	0.71417	0.920000	0.36463	0.995000	0.86356	7.292000	0.78731	2.755000	0.94549	0.655000	0.94253	CGT		0.493	ELAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129934.5			14	30	1	0	1.3612e-06	0.003163	1.54189e-06	14	30				
FLCN	201163	broad.mit.edu	37	17	17131313	17131313	+	Missense_Mutation	SNP	C	C	G	rs369115472		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:17131313C>G	ENST00000285071.4	-	4	593	c.139G>C	c.(139-141)Gaa>Caa	p.E47Q	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.E47Q|FLCN_ENST00000389169.5_Missense_Mutation_p.E47Q	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	47					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCTTCCTCTTCTTCCGCCTGC	0.652									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																														uc002gra.3		NA																	0				thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(139-141)GAA>CAA		folliculin isoform 1		C	GLN/GLU,GLN/GLU	0,4406		0,0,2203	106.0	73.0	84.0		139,139	5.5	1.0	17		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FLCN	NM_144606.5,NM_144997.5	29,29	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	47/343,47/580	17131313	1,13005	2203	4300	6503	SO:0001583	missense	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17131313C>G	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.139G>C	17.37:g.17131313C>G	ENSP00000285071:p.Glu47Gln					PLD6_uc010cpn.2_RNA|FLCN_uc002grb.3_Missense_Mutation_p.E47Q|FLCN_uc002grc.2_Missense_Mutation_p.E47Q	p.E47Q	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			4	643	-			47					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.139G>C	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063134	0.76187	0.0	1.16E-4	ENSG00000154803	ENST00000285071;ENST00000389169;ENST00000389168;ENST00000389171	D;D	0.92647	-3.08;-2.93	5.54	5.54	0.83059	.	0.093679	0.85682	D	0.000000	D	0.88340	0.6410	N	0.22421	0.69	0.44439	D	0.997364	D;P;B	0.53462	0.96;0.745;0.026	P;P;B	0.46585	0.521;0.506;0.042	D	0.86109	0.1561	10	0.17369	T	0.5	-9.7234	18.4682	0.90763	0.0:1.0:0.0:0.0	.	47;47;47	Q8NFG4-3;Q8NFG4-2;Q8NFG4	.;.;FLCN_HUMAN	Q	47	ENSP00000285071:E47Q;ENSP00000373821:E47Q	ENSP00000285071:E47Q	E	-	1	0	FLCN	17072038	1.000000	0.71417	1.000000	0.80357	0.557000	0.35523	7.140000	0.77322	2.606000	0.88127	0.655000	0.94253	GAA		0.652	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		19	24	0	0	0	0.008871	0	19	24				
MYO15A	51168	broad.mit.edu	37	17	18051508	18051508	+	Silent	SNP	C	C	T	rs377161484		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:18051508C>T	ENST00000205890.5	+	31	7013	c.6675C>T	c.(6673-6675)gaC>gaT	p.D2225D	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2225	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGCGCTGGACGTGGGCTGCT	0.672																																							uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(6673-6675)GAC>GAT		myosin XV		C		1,4247		0,1,2123	30.0	33.0	32.0		6675	-1.0	1.0	17		32	0,8490		0,0,4245	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6368	TT,TC,CC		0.0,0.0235,0.0079		2225/3531	18051508	1,12737	2124	4245	6369	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18051508C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6675C>T	17.37:g.18051508C>T							p.D2225D	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			30	7013	+	all_neural(463;0.228)		2225			Tail.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.6675C>T	CCDS42271.1																																																																																				0.672	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	34	0	0	0	0.001984	0	5	34				
SSH2	85464	broad.mit.edu	37	17	27959598	27959598	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:27959598C>T	ENST00000269033.3	-	15	2684	c.2533G>A	c.(2533-2535)Gag>Aag	p.E845K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E872K	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	845					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTCCCCCTCAGCTGGTTCC	0.577																																							uc002heo.1		NA																	0				skin(2)	2						c.(2533-2535)GAG>AAG		slingshot 2							137.0	122.0	127.0					17																	27959598		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959598C>T	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2533G>A	17.37:g.27959598C>T	ENSP00000269033:p.Glu845Lys					SSH2_uc010wbh.1_Missense_Mutation_p.E872K	p.E845K	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2533	-			845					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2533G>A	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659149	0.67586	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.10668	2.86;2.85	6.08	6.08	0.98989	.	0.424492	0.23981	N	0.042663	T	0.15522	0.0374	M	0.62723	1.935	0.34797	D	0.736349	P;P	0.47910	0.902;0.842	P;B	0.46543	0.52;0.185	T	0.11131	-1.0600	10	0.17369	T	0.5	-16.1252	10.9013	0.47054	0.0:0.8615:0.0:0.1385	.	872;845	F5H527;Q76I76	.;SSH2_HUMAN	K	845;872	ENSP00000269033:E845K;ENSP00000444743:E872K	ENSP00000269033:E845K	E	-	1	0	SSH2	24983724	0.909000	0.30893	0.388000	0.26195	0.615000	0.37417	3.340000	0.52143	2.894000	0.99253	0.655000	0.94253	GAG		0.577	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		23	177	0	0	0	0.014323	0	23	177				
SYNRG	11276	broad.mit.edu	37	17	35937553	35937553	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:35937553C>G	ENST00000339208.6	-	7	888	c.748G>C	c.(748-750)Gat>Cat	p.D250H	SYNRG_ENST00000394378.2_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000345615.4_Intron|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000585472.1_Intron|SYNRG_ENST00000346661.4_Missense_Mutation_p.D250H|SYNRG_ENST00000588194.1_Intron	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	250					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACATCCATCTACAGCAACC	0.438																																							uc002hoa.2		NA																	0				ovary(2)	2						c.(748-750)GAT>CAT		synergin, gamma isoform 1							261.0	258.0	259.0					17																	35937553		2203	4300	6503	SO:0001583	missense	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35937553C>G	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.748G>C	17.37:g.35937553C>G	ENSP00000343610:p.Asp250His					SYNRG_uc010wde.1_Intron|SYNRG_uc010wdf.1_Intron|SYNRG_uc002hoc.2_Intron|SYNRG_uc002hoe.2_Intron|SYNRG_uc002hod.2_Intron|SYNRG_uc010wdg.1_Intron|SYNRG_uc002hob.2_Missense_Mutation_p.D250H|SYNRG_uc002hof.2_5'Flank|SYNRG_uc010cvd.1_Intron|SYNRG_uc002hog.1_Missense_Mutation_p.D384H|SYNRG_uc010wdh.1_Missense_Mutation_p.D351H	p.D250H	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN			7	831	-			250					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Missense_Mutation	SNP	ENST00000339208.6	37	c.748G>C	CCDS11321.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744113	0.69418	.	.	ENSG00000006114	ENST00000346661;ENST00000345615;ENST00000394379	T	0.33438	1.41	5.46	5.46	0.80206	.	0.391626	0.27298	N	0.020013	T	0.46983	0.1421	L	0.44542	1.39	0.38893	D	0.957163	D;B;B	0.71674	0.998;0.201;0.201	D;B;B	0.63113	0.911;0.053;0.053	T	0.45131	-0.9282	10	0.56958	D	0.05	-8.6539	17.4774	0.87662	0.0:1.0:0.0:0.0	.	351;250;250	A8MYE0;Q9UMZ2-5;Q9UMZ2	.;.;SYNRG_HUMAN	H	250;250;351	ENSP00000005279:D250H	ENSP00000315722:D250H	D	-	1	0	SYNRG	33011666	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.100000	0.50275	2.543000	0.85770	0.591000	0.81541	GAT		0.438	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	NM_007247		117	518	0	0	0	0.01441	0	117	518				
FBXL20	84961	broad.mit.edu	37	17	37425091	37425091	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:37425091C>T	ENST00000264658.6	-	12	1182	c.922G>A	c.(922-924)Gag>Aag	p.E308K	FBXL20_ENST00000577399.1_Missense_Mutation_p.E310K|FBXL20_ENST00000394294.3_Missense_Mutation_p.E276K|FBXL20_ENST00000583610.1_Missense_Mutation_p.E308K	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	308					behavioral fear response (GO:0001662)	cytoplasm (GO:0005737)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TGAACACACTCTTCCAGGTCC	0.328																																							uc010wed.1		NA																	0				ovary(1)	1						c.(922-924)GAG>AAG		F-box and leucine-rich repeat protein 20							133.0	128.0	130.0					17																	37425091		2203	4300	6503	SO:0001583	missense	84961					cytoplasm		g.chr17:37425091C>T	BC007557	CCDS32640.1, CCDS54116.1	17q21.2	2011-06-09				ENSG00000108306		"""F-boxes / Leucine-rich repeats"""	24679	protein-coding gene	gene with protein product		609086				12477932	Standard	NM_032875		Approved	MGC15482, Fbl2, Fbl20	uc002hrt.3	Q96IG2		ENST00000264658.6:c.922G>A	17.37:g.37425091C>T	ENSP00000264658:p.Glu308Lys					FBXL20_uc002hrt.2_Missense_Mutation_p.E308K|FBXL20_uc010cvu.2_Missense_Mutation_p.E276K	p.E308K	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	LUAD - Lung adenocarcinoma(14;0.146)		12	1143	-			308			LRR 9.		A8K729|Q38J52	Missense_Mutation	SNP	ENST00000264658.6	37	c.922G>A	CCDS32640.1	.	.	.	.	.	.	.	.	.	.	C	34	5.329092	0.95733	.	.	ENSG00000108306	ENST00000264658;ENST00000394294	T;T	0.00892	5.57;5.57	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.02888	0.0086	L	0.41356	1.27	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.71184	0.972;0.937	T	0.71038	-0.4708	10	0.09590	T	0.72	.	18.3623	0.90379	0.0:1.0:0.0:0.0	.	276;308	Q96IG2-2;Q96IG2	.;FXL20_HUMAN	K	308;276	ENSP00000264658:E308K;ENSP00000377832:E276K	ENSP00000264658:E308K	E	-	1	0	FBXL20	34678617	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.747000	0.85070	2.420000	0.82092	0.650000	0.86243	GAG		0.328	FBXL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444315.2	NM_032875		28	223	0	0	0	0.009535	0	28	223				
CDK12	51755	broad.mit.edu	37	17	37619117	37619117	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:37619117A>C	ENST00000447079.4	+	1	826	c.793A>C	c.(793-795)Agt>Cgt	p.S265R	CDK12_ENST00000430627.2_Missense_Mutation_p.S265R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	265					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACAAGAAAAGTCCTGGAAG	0.537			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													uc010cvv.2		NA		Rec	yes		17	17q12	51755		cyclin-dependent kinase 12			E					0				ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1)	19						c.(793-795)AGT>CGT		Cdc2-related kinase, arginine/serine-rich							103.0	107.0	105.0					17																	37619117		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37619117A>C	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.793A>C	17.37:g.37619117A>C	ENSP00000398880:p.Ser265Arg	TCGA Ovarian(9;0.13)				CDK12_uc010wef.1_Missense_Mutation_p.S265R|CDK12_uc002hrw.3_Missense_Mutation_p.S265R	p.S265R	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN			1	1379	+			265					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.793A>C	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094676	0.76870	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42900	0.96;1.11	5.17	5.17	0.71159	.	0.000000	0.52532	D	0.000069	T	0.56077	0.1961	L	0.48642	1.525	0.49130	D	0.999755	D;D;D	0.76494	0.998;0.996;0.999	D;D;D	0.80764	0.986;0.974;0.994	T	0.51284	-0.8725	10	0.27785	T	0.31	-7.3385	15.0324	0.71717	1.0:0.0:0.0:0.0	.	265;265;265	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	R	265	ENSP00000407720:S265R;ENSP00000398880:S265R	ENSP00000407720:S265R	S	+	1	0	CDK12	34872643	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.170000	0.64990	1.961000	0.56991	0.460000	0.39030	AGT		0.537	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		29	304	0	0	0	0.00632	0	29	304				
THRA	7067	broad.mit.edu	37	17	38243028	38243028	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:38243028C>T	ENST00000264637.4	+	7	1225	c.645C>T	c.(643-645)ttC>ttT	p.F215F	THRA_ENST00000450525.2_Silent_p.F215F|THRA_ENST00000546243.1_Silent_p.F215F|THRA_ENST00000394121.4_Silent_p.F215F|THRA_ENST00000584985.1_Silent_p.F215F	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	215	Ligand-binding.				cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGGAAGCCTTCAGCGAGTTTA	0.582											OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc002htw.2		NA																	0					0						c.(643-645)TTC>TTT		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						136.0	101.0	113.0					17																	38243028		2203	4300	6503	SO:0001819	synonymous_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38243028C>T	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.645C>T	17.37:g.38243028C>T			OREG0024390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	876	THRA_uc010cwp.1_Silent_p.F215F|THRA_uc002htv.2_Silent_p.F215F|THRA_uc002htx.2_Silent_p.F215F	p.F215F	NM_003250	NP_003241	P10827	THA_HUMAN			7	1128	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	215			Ligand-binding.		A8K3B5|P21205|Q8N6A1|Q96H73	Silent	SNP	ENST00000264637.4	37	c.645C>T	CCDS11360.1																																																																																				0.582	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			8	142	0	0	0	0.006214	0	8	142				
THRA	7067	broad.mit.edu	37	17	38244755	38244755	+	Splice_Site	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:38244755T>C	ENST00000264637.4	+	8	1562		c.e8+2		THRA_ENST00000450525.2_Splice_Site|THRA_ENST00000546243.1_Splice_Site|THRA_ENST00000394121.4_Splice_Site|THRA_ENST00000584985.1_Splice_Site	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha						cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TGTCAACAGGTACCTGCTGAT	0.557																																							uc002htw.2		NA																	0					0						c.e8+2		thyroid hormone receptor, alpha isoform 2	Levothyroxine(DB00451)|Liothyronine(DB00279)						97.0	89.0	91.0					17																	38244755		2203	4300	6503	SO:0001630	splice_region_variant	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38244755T>C	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.982+2T>C	17.37:g.38244755T>C						THRA_uc010cwp.1_Splice_Site_p.D328_splice|THRA_uc002htv.2_Splice_Site_p.D328_splice|THRA_uc002htx.2_Splice_Site_p.D328_splice	p.D328_splice	NM_003250	NP_003241	P10827	THA_HUMAN			8	1465	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)						A8K3B5|P21205|Q8N6A1|Q96H73	Splice_Site	SNP	ENST00000264637.4	37	c.982_splice	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	t	21.3	4.134179	0.77662	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2785	0.60200	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	THRA	35498281	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.759000	0.85235	1.784000	0.52394	0.398000	0.26397	.		0.557	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2		Intron	12	236	0	0	0	0.013537	0	12	236				
KRT10	3858	broad.mit.edu	37	17	38975393	38975393	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:38975393C>T	ENST00000269576.5	-	7	1403	c.1394G>A	c.(1393-1395)gGc>gAc	p.G465D	TMEM99_ENST00000301665.3_5'UTR	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	465	Gly-rich.|Tail.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				acttccgccgccgcgtccgcc	0.672																																							uc002hvi.2		NA																	0					0						c.(1393-1395)GGC>GAC		keratin 10							12.0	12.0	12.0					17																	38975393		1412	3071	4483	SO:0001583	missense	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38975393C>T	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.1394G>A	17.37:g.38975393C>T	ENSP00000269576:p.Gly465Asp					KRT10_uc010cxd.2_Intron|TMEM99_uc002hvj.1_5'UTR	p.G465D	NM_000421	NP_000412	P13645	K1C10_HUMAN			7	1420	-		Breast(137;0.000301)	465			Gly-rich.|Tail.		Q14664|Q8N175	Missense_Mutation	SNP	ENST00000269576.5	37	c.1394G>A	CCDS11377.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969716	0.74246	.	.	ENSG00000186395	ENST00000269576	D	0.98455	-4.94	3.8	3.8	0.43715	.	0.650278	0.11989	N	0.510062	D	0.93792	0.8015	N	0.08118	0	0.80722	D	1	P	0.48694	0.914	B	0.40444	0.329	D	0.92522	0.6026	10	0.51188	T	0.08	.	11.878	0.52558	0.0:1.0:0.0:0.0	.	465	P13645	K1C10_HUMAN	D	465	ENSP00000269576:G465D	ENSP00000269576:G465D	G	-	2	0	KRT10	36228919	0.041000	0.20044	0.696000	0.30242	0.518000	0.34316	1.649000	0.37281	2.060000	0.61445	0.430000	0.28490	GGC		0.672	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		11	22	0	0	0	0.013537	0	11	22				
KRT17	3872	broad.mit.edu	37	17	39777023	39777023	+	Missense_Mutation	SNP	G	G	A	rs374932182		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:39777023G>A	ENST00000311208.8	-	6	1136	c.1069C>T	c.(1069-1071)Cgc>Tgc	p.R357C	JUP_ENST00000540235.1_Missense_Mutation_p.R516C	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	357	Coil 2.|Rod.			R -> L (in Ref. 4; AL353997/AC022596). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				ATCTCGCAGCGAAGCTGGGCC	0.627																																					Pancreas(92;1242 2086 39193 50508)	Pancreas(92;1242 2086 39193 50508)	uc002hxh.2		NA																	0				ovary(1)|skin(1)	2						c.(1069-1071)CGC>TGC		keratin 17		G	CYS/ARG	0,4406		0,0,2203	57.0	59.0	58.0		1069	4.0	1.0	17		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT17	NM_000422.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	357/433	39777023	1,13005	2203	4300	6503	SO:0001583	missense	3872	Steatocystoma_Multiplex			epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39777023G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1069C>T	17.37:g.39777023G>A	ENSP00000308452:p.Arg357Cys					JUP_uc010wfs.1_Intron	p.R357C	NM_000422	NP_000413	Q04695	K1C17_HUMAN			6	1190	-		Breast(137;0.000307)	357	R -> L (in Ref. 4; AL353997/AC022596).		Coil 2.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	ENST00000311208.8	37	c.1069C>T	CCDS11402.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799287	0.70567	0.0	1.16E-4	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.91521	-2.86;-2.86	4.02	4.02	0.46733	Filament (1);	0.000000	0.47852	D	0.000202	D	0.94594	0.8258	H	0.98738	4.315	0.45528	D	0.998482	B	0.24963	0.115	B	0.30316	0.114	D	0.94808	0.7976	10	0.87932	D	0	.	12.6993	0.57022	0.0:0.0:0.8349:0.1651	.	357	Q04695	K1C17_HUMAN	C	357;516	ENSP00000308452:R357C;ENSP00000441751:R516C	ENSP00000441751:R516C	R	-	1	0	JUP;KRT17	37030549	0.821000	0.29204	1.000000	0.80357	0.807000	0.45602	1.433000	0.34947	2.246000	0.74042	0.561000	0.74099	CGC		0.627	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		20	120	0	0	0	0.012319	0	20	120				
HOXB2	3212	broad.mit.edu	37	17	46620955	46620955	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:46620955G>A	ENST00000330070.4	-	2	1713	c.546C>T	c.(544-546)ctC>ctT	p.L182L	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	182					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GCCTTTCGGTGAGGTCCAGCA	0.612																																							uc002inm.2		NA																	0					0						c.(544-546)CTC>CTT		homeobox B2							58.0	64.0	62.0					17																	46620955		2195	4292	6487	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46620955G>A		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.546C>T	17.37:g.46620955G>A							p.L182L	NM_002145	NP_002136	P14652	HXB2_HUMAN			2	666	-			182			Homeobox.		P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.546C>T	CCDS11527.1																																																																																				0.612	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			28	182	0	0	0	0.009535	0	28	182				
CYB561	1534	broad.mit.edu	37	17	61511886	61511886	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:61511886G>A	ENST00000392976.1	-	6	932	c.633C>T	c.(631-633)ttC>ttT	p.F211F	CYB561_ENST00000582034.1_Silent_p.F182F|CYB561_ENST00000360793.3_Silent_p.F211F|CYB561_ENST00000448884.2_3'UTR|CYB561_ENST00000542042.1_Silent_p.F278F|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000392975.2_Silent_p.F211F|RP11-269G24.4_ENST00000584608.1_lincRNA|CYB561_ENST00000581573.1_Silent_p.F211F|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582997.1_Silent_p.F218F	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	211	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		CCGCCCCACCGAAGCAGGCCA	0.652																																							uc002jap.2		NA																	0				ovary(1)	1						c.(631-633)TTC>TTT		cytochrome b-561							47.0	47.0	47.0					17																	61511886		2203	4300	6503	SO:0001819	synonymous_variant	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61511886G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.633C>T	17.37:g.61511886G>A						CYB561_uc002jaq.2_Silent_p.F257F|CYB561_uc002jar.2_Silent_p.F211F|CYB561_uc002jas.2_Silent_p.F211F|CYB561_uc010ddt.2_3'UTR|CYB561_uc002jat.2_Silent_p.F211F|CYB561_uc010wpf.1_3'UTR|CYB561_uc010wpg.1_Silent_p.F182F	p.F211F	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	5	1035	-			211			Cytochrome b561.|Helical; (Potential).		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.633C>T	CCDS11636.1																																																																																				0.652	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		5	36	0	0	0	0.000602	0	5	36				
KIAA0195	9772	broad.mit.edu	37	17	73485368	73485368	+	Silent	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr17:73485368G>T	ENST00000314256.7	+	8	1180	c.786G>T	c.(784-786)ctG>ctT	p.L262L	KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Silent_p.L272L|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	262						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACATGGCCCTGTCCCGACCAG	0.582																																							uc002jnz.3		NA																	0				ovary(1)	1						c.(784-786)CTG>CTT		hypothetical protein LOC9772							93.0	72.0	79.0					17																	73485368		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73485368G>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.786G>T	17.37:g.73485368G>T						KIAA0195_uc010wsa.1_Silent_p.L272L|KIAA0195_uc010wsb.1_5'Flank	p.L262L	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		8	1061	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		262					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.786G>T	CCDS32732.1																																																																																				0.582	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		10	29	1	0	4.68919e-08	0.008291	5.44003e-08	10	29				
EPB41L3	23136	broad.mit.edu	37	18	5489114	5489114	+	Silent	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr18:5489114C>A	ENST00000341928.2	-	2	409	c.69G>T	c.(67-69)gcG>gcT	p.A23A	EPB41L3_ENST00000400111.3_Silent_p.A23A|EPB41L3_ENST00000540638.2_Silent_p.A23A|EPB41L3_ENST00000544123.1_Silent_p.A23A|EPB41L3_ENST00000342933.3_Silent_p.A23A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	23					apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						cctgcgcccccgccgccTCCT	0.687																																							uc002kmt.1		NA																	0				ovary(5)	5						c.(67-69)GCG>GCT		erythrocyte membrane protein band 4.1-like 3							18.0	20.0	19.0					18																	5489114		2136	4161	6297	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5489114C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.69G>T	18.37:g.5489114C>A						EPB41L3_uc010wzh.1_Silent_p.A23A|EPB41L3_uc002kmu.1_Silent_p.A23A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A45A|EPB41L3_uc002kmv.1_5'UTR	p.A23A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			2	155	-			23					B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.69G>T	CCDS11838.1																																																																																				0.687	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		19	20	1	0	7.45023e-12	0.010504	8.9683e-12	19	20				
CEP76	79959	broad.mit.edu	37	18	12686344	12686344	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr18:12686344C>G	ENST00000262127.2	-	8	1264	c.1039G>C	c.(1039-1041)Ggt>Cgt	p.G347R	CEP76_ENST00000423709.2_Missense_Mutation_p.G272R|PSMG2_ENST00000589405.1_3'UTR|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	347					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CGTTCATAACCAAGGACATTA	0.443																																							uc002kri.2		NA																	0					0						c.(1039-1041)GGT>CGT		centrosomal protein 76kDa							113.0	102.0	106.0					18																	12686344		2203	4300	6503	SO:0001583	missense	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12686344C>G	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.1039G>C	18.37:g.12686344C>G	ENSP00000262127:p.Gly347Arg					PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Missense_Mutation_p.G169R|CEP76_uc010wzz.1_Missense_Mutation_p.G272R|CEP76_uc010xaa.1_Missense_Mutation_p.G169R	p.G347R	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			8	1195	-			347					B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	37	c.1039G>C	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	32	5.150956	0.94645	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	T;T	0.79352	-1.26;-1.25	5.74	5.74	0.90152	.	0.046820	0.85682	D	0.000000	T	0.75125	0.3807	L	0.40543	1.245	0.80722	D	1	P;P;P	0.49090	0.454;0.919;0.919	B;B;B	0.43052	0.128;0.406;0.406	T	0.77938	-0.2400	10	0.62326	D	0.03	-1.6667	19.9135	0.97033	0.0:1.0:0.0:0.0	.	272;347;169	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	R	347;272	ENSP00000262127:G347R;ENSP00000403074:G272R	ENSP00000262127:G347R	G	-	1	0	CEP76	12676344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.072000	0.71238	2.711000	0.92665	0.591000	0.81541	GGT		0.443	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899		9	20	0	0	0	0.006214	0	9	20				
FAM210A	125228	broad.mit.edu	37	18	13682015	13682015	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr18:13682015T>C	ENST00000322247.3	-	3	449	c.62A>G	c.(61-63)cAt>cGt	p.H21R	FAM210A_ENST00000402563.1_Missense_Mutation_p.H21R|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	21						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ACCAGCATTATGTGGTTCCAA	0.418																																							uc010dlh.2		NA																	0				breast(2)	2						c.(61-63)CAT>CGT		hypothetical protein LOC125228							152.0	135.0	141.0					18																	13682015		2203	4300	6503	SO:0001583	missense	125228					integral to membrane		g.chr18:13682015T>C	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.62A>G	18.37:g.13682015T>C	ENSP00000323635:p.His21Arg					C18orf19_uc010dlg.2_Missense_Mutation_p.H21R|C18orf19_uc010dli.2_Missense_Mutation_p.H21R|C18orf19_uc002ksj.3_Missense_Mutation_p.H21R|C18orf19_uc010dlj.2_Intron	p.H21R	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN			3	494	-			21					D3DUJ4	Missense_Mutation	SNP	ENST00000322247.3	37	c.62A>G	CCDS11866.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.135343	0.00335	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.44083	0.93;0.93	5.48	1.53	0.23141	.	0.833766	0.10777	N	0.635279	T	0.31734	0.0806	L	0.44542	1.39	0.09310	N	1	B	0.24823	0.112	B	0.14023	0.01	T	0.21177	-1.0253	10	0.07325	T	0.83	0.2222	13.626	0.62165	0.0:0.0:0.5167:0.4833	.	21	Q96ND0	CR019_HUMAN	R	21	ENSP00000323635:H21R;ENSP00000386115:H21R	ENSP00000323635:H21R	H	-	2	0	C18orf19	13672015	0.990000	0.36364	0.025000	0.17156	0.053000	0.15095	0.347000	0.20014	0.378000	0.24764	0.533000	0.62120	CAT		0.418	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254637.1	NM_152352		16	49	0	0	0	0.00499	0	16	49				
CTIF	9811	broad.mit.edu	37	18	46343675	46343675	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr18:46343675C>T	ENST00000256413.3	+	10	1750	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	CTIF_ENST00000382998.4_Silent_p.F487F	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	485	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GCGAGGTCTTCGGCACCATGC	0.647																																							uc002ldc.2		NA																	0					0						c.(1453-1455)TTC>TTT		hypothetical protein LOC9811 isoform 1							99.0	72.0	81.0					18																	46343675		2203	4300	6503	SO:0001819	synonymous_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46343675C>T	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.1455C>T	18.37:g.46343675C>T						KIAA0427_uc002ldd.2_Silent_p.F487F|KIAA0427_uc002lde.3_Silent_p.F114F	p.F485F	NM_014772	NP_055587	O43310	CTIF_HUMAN			10	1740	+			485			MIF4G.		B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	c.1455C>T	CCDS11935.1																																																																																				0.647	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772		12	48	0	0	0	0.013537	0	12	48				
MBD1	4152	broad.mit.edu	37	18	47801575	47801575	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr18:47801575A>G	ENST00000591416.1	-	9	1264	c.833T>C	c.(832-834)aTg>aCg	p.M278T	MBD1_ENST00000269471.5_Missense_Mutation_p.M278T|MBD1_ENST00000585595.1_Missense_Mutation_p.M303T|MBD1_ENST00000347968.3_Missense_Mutation_p.M278T|MBD1_ENST00000398493.1_Missense_Mutation_p.M278T|MBD1_ENST00000398488.1_Missense_Mutation_p.M278T|MBD1_ENST00000398495.2_Missense_Mutation_p.M303T|MBD1_ENST00000424334.2_Missense_Mutation_p.M329T|MBD1_ENST00000436910.1_Missense_Mutation_p.M278T|MBD1_ENST00000353909.3_Missense_Mutation_p.M229T|MBD1_ENST00000588937.1_Missense_Mutation_p.M278T|MBD1_ENST00000590208.1_Missense_Mutation_p.M278T|MBD1_ENST00000587605.1_Missense_Mutation_p.M278T|MBD1_ENST00000269468.5_Missense_Mutation_p.M278T|MBD1_ENST00000585672.1_Missense_Mutation_p.M229T|MBD1_ENST00000339998.6_Missense_Mutation_p.M278T|MBD1_ENST00000591535.1_Missense_Mutation_p.M278T|MBD1_ENST00000349085.2_Missense_Mutation_p.M278T|MBD1_ENST00000457839.2_Missense_Mutation_p.M303T|MBD1_ENST00000382948.5_Missense_Mutation_p.M278T			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	278					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTGGCAGCCATCTTGGAGTC	0.647																																							uc010dow.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(832-834)ATG>ACG		methyl-CpG binding domain protein 1 isoform 1							40.0	48.0	45.0					18																	47801575		2203	4300	6503	SO:0001583	missense	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47801575A>G	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.833T>C	18.37:g.47801575A>G	ENSP00000467017:p.Met278Thr					MBD1_uc002lef.2_Missense_Mutation_p.M85T|MBD1_uc002leg.2_Missense_Mutation_p.M229T|MBD1_uc010xdi.1_Missense_Mutation_p.M329T|MBD1_uc002leh.3_Missense_Mutation_p.M278T|MBD1_uc002len.2_Missense_Mutation_p.M278T|MBD1_uc002lei.3_Missense_Mutation_p.M278T|MBD1_uc002lej.3_Missense_Mutation_p.M278T|MBD1_uc002lek.3_Missense_Mutation_p.M229T|MBD1_uc002lel.3_Missense_Mutation_p.M278T|MBD1_uc002lem.3_Missense_Mutation_p.M278T|MBD1_uc010xdj.1_Missense_Mutation_p.M278T|MBD1_uc010xdk.1_Missense_Mutation_p.M303T|MBD1_uc010dox.1_Missense_Mutation_p.M278T|MBD1_uc002leo.2_Missense_Mutation_p.M278T	p.M278T	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			9	1270	-			278					A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Missense_Mutation	SNP	ENST00000591416.1	37	c.833T>C	CCDS11943.1	.	.	.	.	.	.	.	.	.	.	A	9.352	1.065846	0.20067	.	.	ENSG00000141644	ENST00000382948;ENST00000353909;ENST00000349085;ENST00000269468;ENST00000347968;ENST00000436910;ENST00000269471;ENST00000424334;ENST00000339998;ENST00000398495;ENST00000457839;ENST00000398493;ENST00000398488	D;D;D;D;D;D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.59;-3.6;-3.63;-3.61;-3.63;-3.63;-3.63	4.68	-2.28	0.06826	.	0.934137	0.09067	N	0.853465	D	0.82779	0.5111	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B	0.26845	0.116;0.139;0.048;0.022;0.067;0.161;0.067;0.152;0.022;0.067;0.022;0.067	B;B;B;B;B;B;B;B;B;B;B;B	0.23716	0.021;0.021;0.03;0.013;0.048;0.031;0.048;0.023;0.013;0.048;0.013;0.048	T	0.72239	-0.4351	10	0.14252	T	0.57	0.863	0.0831	0.00033	0.3228:0.1657:0.1903:0.3212	.	278;329;278;278;278;278;229;278;278;278;303;278	B4DUR3;B4DI41;Q9UIS9-8;A8K654;Q9UIS9-6;Q9UIS9-2;Q9UIS9-5;Q9UIS9-4;Q9UIS9;Q9UIS9-7;B4DXJ5;Q9UIS9-3	.;.;.;.;.;.;.;.;MBD1_HUMAN;.;.;.	T	278;229;278;278;278;278;278;329;278;278;303;278;278	ENSP00000372407:M278T;ENSP00000269469:M229T;ENSP00000342531:M278T;ENSP00000269468:M278T;ENSP00000285102:M278T;ENSP00000409561:M278T;ENSP00000269471:M278T;ENSP00000408846:M329T;ENSP00000339546:M278T;ENSP00000405268:M303T;ENSP00000381506:M278T;ENSP00000381502:M278T	ENSP00000269468:M278T	M	-	2	0	MBD1	46055573	0.001000	0.12720	0.019000	0.16419	0.942000	0.58702	-0.195000	0.09546	-0.239000	0.09710	0.402000	0.26972	ATG		0.647	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3	NM_015846		14	47	0	0	0	0.00499	0	14	47				
ZNF77	58492	broad.mit.edu	37	19	2934107	2934107	+	Nonsense_Mutation	SNP	G	G	A	rs146879198	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:2934107G>A	ENST00000314531.4	-	4	1110	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCATGTTCTCGAAGAGACGAG	0.493																																							uc002lws.3		NA																	0				ovary(1)	1						c.(1018-1020)CGA>TGA		zinc finger protein 77		G	stop/ARG	0,4406		0,0,2203	105.0	93.0	97.0		1018	-3.1	0.0	19	dbSNP_134	97	5,8595	4.3+/-15.6	0,5,4295	yes	stop-gained	ZNF77	NM_021217.2		0,5,6498	AA,AG,GG		0.0581,0.0,0.0384		340/546	2934107	5,13001	2203	4300	6503	SO:0001587	stop_gained	58492				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	g.chr19:2934107G>A	X65230	CCDS12099.1	19p13.3	2013-01-08	2006-05-12					"""Zinc fingers, C2H2-type"", ""-"""	13150	protein-coding gene	gene with protein product		194551	"""zinc finger protein 77 (pT1)"""			8478004	Standard	NM_021217		Approved	pT1	uc002lws.4	Q15935		ENST00000314531.4:c.1018C>T	19.37:g.2934107G>A	ENSP00000319053:p.Arg340*						p.R340*	NM_021217	NP_067040	Q15935	ZNF77_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1149	-			340			C2H2-type 5.		Q86XJ3|Q9NPP0	Nonsense_Mutation	SNP	ENST00000314531.4	37	c.1018C>T	CCDS12099.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528695	0.96446	0.0	5.81E-4	ENSG00000175691	ENST00000341064;ENST00000314531	.	.	.	3.28	-3.07	0.05363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	11.4478	0.50134	0.0:0.0:0.2107:0.7893	.	.	.	.	X	134;340	.	ENSP00000319053:R340X	R	-	1	2	ZNF77	2885107	0.000000	0.05858	0.000000	0.03702	0.712000	0.41017	-0.244000	0.08903	-0.244000	0.09639	0.491000	0.48974	CGA		0.493	ZNF77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451924.1	NM_021217		24	47	0	0	0	0.014323	0	24	47				
SEMA6B	10501	broad.mit.edu	37	19	4548324	4548324	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:4548324A>G	ENST00000586582.1	-	13	1715	c.1405T>C	c.(1405-1407)Tct>Cct	p.S469P	SEMA6B_ENST00000301293.3_Missense_Mutation_p.S469P|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000586965.1_Missense_Mutation_p.S469P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	469	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGCCCAGACGTCCCTGAG	0.647																																							uc010duc.1		NA																	0				skin(1)	1						c.(1405-1407)TCT>CCT		semaphorin 6B precursor							53.0	52.0	52.0					19																	4548324		2203	4300	6503	SO:0001583	missense	10501				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr19:4548324A>G	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1405T>C	19.37:g.4548324A>G	ENSP00000467290:p.Ser469Pro					SEMA6B_uc010dud.2_Missense_Mutation_p.S469P|SEMA6B_uc010xih.1_Missense_Mutation_p.S469P	p.S469P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1443	-		Hepatocellular(1079;0.137)	469			Extracellular (Potential).|Sema.		A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	c.1405T>C	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	5.298	0.240318	0.10023	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12569	2.67	4.01	-8.03	0.01114	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	8.881020	0.00575	U	0.000318	T	0.17365	0.0417	L	0.45422	1.42	0.09310	N	1	P;B	0.38473	0.633;0.408	P;B	0.50162	0.633;0.351	T	0.39881	-0.9592	10	0.48119	T	0.1	.	4.2721	0.10792	0.2042:0.5093:0.0981:0.1884	.	469;469	B4DT36;Q9H3T3	.;SEM6B_HUMAN	P	469	ENSP00000301293:S469P	ENSP00000301292:S469P	S	-	1	0	SEMA6B	4499324	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-3.499000	0.00450	-2.051000	0.00904	-0.636000	0.03981	TCT		0.647	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458656.2	NM_032108		36	25	0	0	0	0.004289	0	36	25				
KEAP1	9817	broad.mit.edu	37	19	10602822	10602822	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:10602822C>A	ENST00000171111.5	-	3	1303	c.756G>T	c.(754-756)tgG>tgT	p.W252C	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.W252C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	252	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CGTACTTGACCCAGTTGATGC	0.622																																							uc002moq.1		NA																	0				lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(754-756)TGG>TGT		kelch-like ECH-associated protein 1							74.0	66.0	69.0					19																	10602822		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602822C>A	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.756G>T	19.37:g.10602822C>A	ENSP00000171111:p.Trp252Cys					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.W252C	p.W252C	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	912	-			252			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.756G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589605	0.86851	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.85702	-2.02;-2.02	5.61	5.61	0.85477	BTB/Kelch-associated (2);	0.111154	0.64402	D	0.000003	D	0.95108	0.8415	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96448	0.9332	10	0.87932	D	0	.	17.1459	0.86766	0.0:1.0:0.0:0.0	.	252	Q14145	KEAP1_HUMAN	C	252	ENSP00000171111:W252C;ENSP00000377245:W252C	ENSP00000171111:W252C	W	-	3	0	KEAP1	10463822	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.702000	0.84576	2.656000	0.90262	0.561000	0.74099	TGG		0.622	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		44	23	1	0	1.8453e-21	0.010771	2.35413e-21	44	23				
CYP4F3	4051	broad.mit.edu	37	19	15760024	15760024	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:15760024C>T	ENST00000221307.8	+	6	627	c.580C>T	c.(580-582)Cac>Tac	p.H194Y	CYP4F3_ENST00000591058.1_Missense_Mutation_p.H194Y|CYP4F3_ENST00000586182.2_Missense_Mutation_p.H194Y|CYP4F3_ENST00000585846.1_Missense_Mutation_p.H194Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	194					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATGTTTGAGCACATCAGCCT	0.577																																							uc002nbj.2		NA																	0				ovary(3)	3						c.(580-582)CAC>TAC		cytochrome P450, family 4, subfamily F,							119.0	103.0	108.0					19																	15760024		2203	4300	6503	SO:0001583	missense	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15760024C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.580C>T	19.37:g.15760024C>T	ENSP00000221307:p.His194Tyr					CYP4F3_uc010xok.1_Missense_Mutation_p.H194Y|CYP4F3_uc010xol.1_Missense_Mutation_p.H194Y|CYP4F3_uc010xom.1_Missense_Mutation_p.H45Y|CYP4F3_uc002nbk.2_Missense_Mutation_p.H194Y|CYP4F3_uc010xon.1_5'Flank	p.H194Y	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			6	630	+			194					B7Z8Z3|O60634|Q5U740	Missense_Mutation	SNP	ENST00000221307.8	37	c.580C>T	CCDS12332.1	.	.	.	.	.	.	.	.	.	.	.	12.90	2.075227	0.36662	.	.	ENSG00000186529	ENST00000538865;ENST00000221307	T	0.68181	-0.31	3.34	0.98	0.19750	.	0.151107	0.42964	U	0.000635	T	0.55016	0.1894	L	0.31578	0.945	0.39518	D	0.968465	B;B	0.16603	0.01;0.018	B;B	0.35688	0.151;0.208	T	0.49447	-0.8939	10	0.59425	D	0.04	.	6.8402	0.23959	0.206:0.6097:0.1843:0.0	.	194;194	B7Z8Z3;Q08477	.;CP4F3_HUMAN	Y	121;194	ENSP00000221307:H194Y	ENSP00000221307:H194Y	H	+	1	0	CYP4F3	15621024	0.970000	0.33590	0.998000	0.56505	0.991000	0.79684	2.329000	0.43876	0.067000	0.16545	0.491000	0.48974	CAC		0.577	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		73	30	0	0	0	0.01441	0	73	30				
ZFP14	57677	broad.mit.edu	37	19	36831959	36831959	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:36831959C>T	ENST00000270001.7	-	5	884	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	257					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCCTTACATTCATAGGGTTTT	0.448																																							uc002odx.1		NA																	0				ovary(1)	1						c.(769-771)GAA>AAA		zinc finger protein 14-like							79.0	82.0	81.0					19																	36831959		2203	4300	6503	SO:0001583	missense	57677				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36831959C>T	AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.769G>A	19.37:g.36831959C>T	ENSP00000270001:p.Glu257Lys					ZFP14_uc010xtd.1_Missense_Mutation_p.E258K|ZFP14_uc010eex.1_Missense_Mutation_p.E257K	p.E257K	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN			4	862	-	Esophageal squamous(110;0.162)		257			C2H2-type 4.		A7MD23	Missense_Mutation	SNP	ENST00000270001.7	37	c.769G>A	CCDS33002.1	.	.	.	.	.	.	.	.	.	.	c	15.55	2.866123	0.51588	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.19250	2.16	4.07	4.07	0.47477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47093	D	0.000257	T	0.08935	0.0221	N	0.04132	-0.27	0.80722	D	1	B;B	0.23540	0.037;0.087	B;B	0.30716	0.055;0.119	T	0.23833	-1.0177	10	0.12103	T	0.63	.	7.3737	0.26817	0.1876:0.6304:0.182:0.0	.	257;257	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	K	257	ENSP00000270001:E257K	ENSP00000270001:E257K	E	-	1	0	ZFP14	41523799	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.523000	0.06230	2.259000	0.74868	0.549000	0.68633	GAA		0.448	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452528.1	NM_020917		57	26	0	0	0	0.01441	0	57	26				
MEGF8	1954	broad.mit.edu	37	19	42861133	42861133	+	Splice_Site	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:42861133G>A	ENST00000251268.6	+	27	4830	c.4830G>A	c.(4828-4830)aaG>aaA	p.K1610K	MEGF8_ENST00000334370.4_Splice_Site_p.K1543K	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1610					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGCAGGAGAAGGTGAGCATCT	0.622																																							uc002otl.3		NA																	0				ovary(1)	1						c.(4627-4629)AAG>AAA		multiple EGF-like-domains 8							34.0	28.0	30.0					19																	42861133		2203	4297	6500	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42861133G>A	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4830+1G>A	19.37:g.42861133G>A						MEGF8_uc002otm.3_Silent_p.K1151K	p.K1543K	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			26	5264	+		Prostate(69;0.00682)	1610			Extracellular (Potential).|Kelch 8.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.4629G>A																																																																																					0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	Silent	5	9	0	0	0	0.001168	0	5	9				
TMEM143	55260	broad.mit.edu	37	19	48845932	48845932	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:48845932T>C	ENST00000293261.3	-	6	1146	c.830A>G	c.(829-831)cAg>cGg	p.Q277R	TMEM143_ENST00000436660.2_Missense_Mutation_p.Q212R|TMEM143_ENST00000377431.2_Missense_Mutation_p.Q177R|TMEM143_ENST00000435956.3_Missense_Mutation_p.Q242R|TMEM143_ENST00000541566.1_Missense_Mutation_p.Q167R	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	277					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CAGGGCGCGCTGCAGGGTGGG	0.637																																							uc002pix.1		NA																	0					0						c.(829-831)CAG>CGG		transmembrane protein 143							61.0	50.0	54.0					19																	48845932		2203	4300	6503	SO:0001583	missense	55260					integral to membrane|mitochondrion		g.chr19:48845932T>C	AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.830A>G	19.37:g.48845932T>C	ENSP00000293261:p.Gln277Arg					TMEM143_uc002piw.1_Intron|TMEM143_uc002piy.1_Missense_Mutation_p.Q242R|TMEM143_uc010xzn.1_Missense_Mutation_p.Q212R|TMEM143_uc010elw.1_Missense_Mutation_p.Q177R|TMEM143_uc010xzo.1_Missense_Mutation_p.Q67R	p.Q277R	NM_018273	NP_060743	Q96AN5	TM143_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)	6	839	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)	277					A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	c.830A>G	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	T	11.91	1.781015	0.31502	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.43688	0.94;0.94;0.95	4.63	2.48	0.30137	.	0.819285	0.10705	N	0.643521	T	0.27169	0.0666	N	0.19112	0.55	0.22880	N	0.998616	B;B;B;B	0.30709	0.002;0.291;0.065;0.288	B;B;B;B	0.30105	0.003;0.064;0.037;0.111	T	0.21381	-1.0247	10	0.59425	D	0.04	-6.1298	6.6062	0.22726	0.0:0.0846:0.1554:0.76	.	212;177;242;277	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	R	277;177;242;212;167	ENSP00000293261:Q277R;ENSP00000397038:Q242R;ENSP00000444275:Q167R	ENSP00000293261:Q277R	Q	-	2	0	TMEM143	53537744	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	3.146000	0.50631	0.232000	0.21100	0.374000	0.22700	CAG		0.637	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1	NM_018273		3	34	0	0	0	0.004672	0	3	34				
ALDH16A1	126133	broad.mit.edu	37	19	49969066	49969066	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:49969066T>A	ENST00000293350.4	+	13	1803	c.1640T>A	c.(1639-1641)aTc>aAc	p.I547N	CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.I384N|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.I496N|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.I382N	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	547						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TCCAGGCCCATCCGGGATTCG	0.647																																							uc002pnt.2		NA																	0				skin(1)	1						c.(1639-1641)ATC>AAC		aldehyde dehydrogenase 16 family, member A1							38.0	41.0	40.0					19																	49969066		2203	4300	6503	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49969066T>A	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1640T>A	19.37:g.49969066T>A	ENSP00000293350:p.Ile547Asn					ALDH16A1_uc010yar.1_Missense_Mutation_p.I496N|ALDH16A1_uc010yas.1_Missense_Mutation_p.I382N|ALDH16A1_uc010yat.1_Missense_Mutation_p.I384N	p.I547N	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	13	1756	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	547					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.1640T>A	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.039560	0.35989	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	4.77	3.76	0.43208	Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.266394	0.33792	N	0.004549	T	0.44726	0.1307	L	0.55017	1.72	0.40295	D	0.978548	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74348	0.965;0.977;0.983	T	0.40136	-0.9579	10	0.87932	D	0	-7.353	6.1917	0.20528	0.0:0.1996:0.0:0.8004	.	384;496;547	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	N	547;496;384;382	ENSP00000293350:I547N;ENSP00000410142:I496N;ENSP00000445088:I384N;ENSP00000398675:I382N	ENSP00000293350:I547N	I	+	2	0	ALDH16A1	54660878	0.004000	0.15560	0.946000	0.38457	0.042000	0.13812	1.088000	0.30877	0.698000	0.31739	0.459000	0.35465	ATC		0.647	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	NM_153329		4	30	0	0	0	0.009096	0	4	30				
LRRC4B	94030	broad.mit.edu	37	19	51021288	51021288	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:51021288G>A	ENST00000599957.1	-	3	1879	c.1682C>T	c.(1681-1683)aCg>aTg	p.T561M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T561M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	561					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T561M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGCGTTCTCCGTCACATCCGT	0.657																																							uc002pss.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	central_nervous_system(1)|skin(1)	2						c.(1681-1683)ACG>ATG		leucine rich repeat containing 4B precursor							42.0	45.0	44.0					19																	51021288		2143	4263	6406	SO:0001583	missense	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021288G>A	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1682C>T	19.37:g.51021288G>A	ENSP00000471502:p.Thr561Met						p.T561M	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	1819	-		all_neural(266;0.131)	561			Extracellular (Potential).		Q3ZCQ4|Q58F20	Missense_Mutation	SNP	ENST00000599957.1	37	c.1682C>T	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442721	0.63067	.	.	ENSG00000131409	ENST00000389201	T	0.33865	1.39	3.27	3.27	0.37495	.	0.000000	0.34531	U	0.003890	T	0.35566	0.0936	L	0.34521	1.04	0.39453	D	0.967435	D	0.67145	0.996	P	0.51550	0.673	T	0.18967	-1.0320	10	0.39692	T	0.17	.	12.3875	0.55340	0.0:0.0:1.0:0.0	.	561	Q9NT99	LRC4B_HUMAN	M	561	ENSP00000373853:T561M	ENSP00000373853:T561M	T	-	2	0	LRRC4B	55713100	0.979000	0.34478	1.000000	0.80357	0.971000	0.66376	1.940000	0.40223	1.823000	0.53134	0.462000	0.41574	ACG		0.657	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		12	27	0	0	0	0.010729	0	12	27				
ZNF175	7728	broad.mit.edu	37	19	52090283	52090283	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:52090283C>T	ENST00000262259.2	+	5	1057	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	233					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTCAGCTATTCAGCCATAGCT	0.423																																							uc002pxb.2		NA																	0					0						c.(697-699)TTC>TTT		zinc finger protein 175							72.0	67.0	68.0					19																	52090283		2203	4299	6502	SO:0001819	synonymous_variant	7728				response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:52090283C>T	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.699C>T	19.37:g.52090283C>T							p.F233F	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)	5	1077	+		all_neural(266;0.0299)	233					A8K9H2	Silent	SNP	ENST00000262259.2	37	c.699C>T	CCDS12837.1																																																																																				0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147		18	33	0	0	0	0.007413	0	18	33				
ZNF528	84436	broad.mit.edu	37	19	52905244	52905244	+	5'UTR	SNP	A	A	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:52905244A>T	ENST00000360465.3	+	0	404				ZNF528_ENST00000598192.1_5'UTR|ZNF528_ENST00000531472.1_3'UTR|ZNF528_ENST00000594530.1_5'Flank|ZNF528_ENST00000391788.2_5'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAACTTGGAAGAGGAAAGAA	0.418																																							uc002pzh.2		NA																	0				ovary(1)|skin(1)	2						c.(-24--20)GAAGA>GATGA		zinc finger protein 528							227.0	208.0	214.0					19																	52905244		2203	4300	6503	SO:0001623	5_prime_UTR_variant	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52905244A>T	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.-23A>T	19.37:g.52905244A>T						ZNF528_uc002pzi.2_Translation_Start_Site		NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	4	404	+								B3KPN4|Q86T88|Q96JK0	Translation_Start_Site	SNP	ENST00000360465.3	37	c.-22A>T	CCDS33091.1																																																																																				0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		7	14	0	0	0	0.00308	0	7	14				
BIRC8	112401	broad.mit.edu	37	19	53793115	53793115	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:53793115C>G	ENST00000426466.1	-	1	1760	c.513G>C	c.(511-513)caG>caC	p.Q171H		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	171					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTTCTCTCTGCAATGAAG	0.433																																							uc002qbk.2		NA																	0				lung(1)	1						c.(511-513)CAG>CAC		baculoviral IAP repeat-containing 8							84.0	83.0	83.0					19																	53793115		2203	4300	6503	SO:0001583	missense	112401				apoptosis		zinc ion binding	g.chr19:53793115C>G	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.513G>C	19.37:g.53793115C>G	ENSP00000412957:p.Gln171His						p.Q171H	NM_033341	NP_203127	Q96P09	BIRC8_HUMAN		GBM - Glioblastoma multiforme(134;0.00304)	1	1761	-			171					Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	c.513G>C	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	9.699	1.154080	0.21371	.	.	ENSG00000163098	ENST00000426466	T	0.37584	1.19	0.338	0.338	0.15974	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.35740	0.0942	M	0.68317	2.08	0.09310	N	1	P	0.48162	0.906	B	0.43701	0.428	T	0.21449	-1.0245	8	0.48119	T	0.1	-5.0393	.	.	.	.	171	Q96P09	BIRC8_HUMAN	H	171	ENSP00000412957:Q171H	ENSP00000412957:Q171H	Q	-	3	2	BIRC8	58484927	0.214000	0.23563	0.015000	0.15790	0.010000	0.07245	1.143000	0.31553	0.451000	0.26802	0.134000	0.15878	CAG		0.433	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341		23	48	0	0	0	0.012319	0	23	48				
NLRP7	199713	broad.mit.edu	37	19	55452960	55452960	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:55452960C>T	ENST00000590030.1	-	1	160	c.120G>A	c.(118-120)aaG>aaA	p.K40K	NLRP7_ENST00000448121.2_Silent_p.K40K|NLRP7_ENST00000328092.5_Silent_p.K40K|NLRP7_ENST00000588756.1_Silent_p.K40K|NLRP7_ENST00000592784.1_Silent_p.K40K|NLRP7_ENST00000446217.1_Silent_p.K68K|NLRP7_ENST00000340844.2_Silent_p.K40K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	40	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		ACCATGGGGTCTTCTGTAGCA	0.478																																							uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(118-120)AAG>AAA		NACHT, leucine rich repeat and PYD containing 7							89.0	84.0	86.0					19																	55452960		2203	4300	6503	SO:0001819	synonymous_variant	199713						ATP binding	g.chr19:55452960C>T	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.120G>A	19.37:g.55452960C>T						NLRP7_uc002qig.3_Silent_p.K40K|NLRP7_uc002qii.3_Silent_p.K40K|NLRP7_uc010esk.2_Silent_p.K40K|NLRP7_uc010esl.2_Silent_p.K68K	p.K40K	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	2	196	-			40			DAPIN.		E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	c.120G>A	CCDS33109.1																																																																																				0.478	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		25	56	0	0	0	0.00333	0	25	56				
USP29	57663	broad.mit.edu	37	19	57640670	57640670	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:57640670C>G	ENST00000254181.4	+	4	1081	c.627C>G	c.(625-627)aaC>aaG	p.N209K	USP29_ENST00000598197.1_Missense_Mutation_p.N209K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	209					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATAGGAAGAACCCATCAAGTT	0.353																																							uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(625-627)AAC>AAG		ubiquitin specific peptidase 29							67.0	73.0	71.0					19																	57640670		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640670C>G		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.627C>G	19.37:g.57640670C>G	ENSP00000254181:p.Asn209Lys						p.N209K	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	983	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	209						Missense_Mutation	SNP	ENST00000254181.4	37	c.627C>G	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.540963	0.00142	.	.	ENSG00000131864	ENST00000254181	T	0.33438	1.41	2.28	0.101	0.14517	.	.	.	.	.	T	0.05868	0.0153	N	0.00446	-1.495	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.37220	-0.9715	9	0.02654	T	1	-0.6174	3.9756	0.09473	0.5826:0.2175:0.0:0.2	.	209	Q9HBJ7	UBP29_HUMAN	K	209	ENSP00000254181:N209K	ENSP00000254181:N209K	N	+	3	2	USP29	62332482	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	-0.134000	0.10436	-0.060000	0.13132	-1.482000	0.00985	AAC		0.353	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			10	54	0	0	0	0.008291	0	10	54				
ZSCAN1	284312	broad.mit.edu	37	19	58565065	58565065	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:58565065C>T	ENST00000282326.1	+	6	1120	c.873C>T	c.(871-873)ccC>ccT	p.P291P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	291					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTGGGCGGCCCTTCCAGTGTG	0.652																																							uc002qrc.1		NA																	0				ovary(2)	2						c.(871-873)CCC>CCT		zinc finger and SCAN domain containing 1							64.0	60.0	62.0					19																	58565065		2203	4300	6503	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565065C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.873C>T	19.37:g.58565065C>T							p.P291P	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1120	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	291					Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.873C>T	CCDS12969.1																																																																																				0.652	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		6	65	0	0	0	0.001984	0	6	65				
ZNF544	27300	broad.mit.edu	37	19	58773169	58773169	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr19:58773169G>C	ENST00000596652.1	+	6	1431	c.1197G>C	c.(1195-1197)caG>caC	p.Q399H	CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000269829.4_Missense_Mutation_p.Q399H|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000415203.2_Missense_Mutation_p.Q371H|ZNF544_ENST00000600220.1_Missense_Mutation_p.Q371H|ZNF544_ENST00000596929.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000600044.1_Missense_Mutation_p.Q371H|ZNF544_ENST00000599953.1_Missense_Mutation_p.Q257H			Q6NX49	ZN544_HUMAN	zinc finger protein 544	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCATACATCAGAGGACACACA	0.463																																							uc010euo.2		NA																	0				pancreas(1)	1						c.(1195-1197)CAG>CAC		zinc finger protein 544							84.0	83.0	83.0					19																	58773169		2203	4300	6503	SO:0001583	missense	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773169G>C	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1197G>C	19.37:g.58773169G>C	ENSP00000469635:p.Gln399His					ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.Q371H|ZNF544_uc010yhy.1_Missense_Mutation_p.Q371H|ZNF544_uc002qrt.3_Missense_Mutation_p.Q257H|ZNF544_uc002qru.3_Missense_Mutation_p.Q257H|uc002qrx.1_Intron	p.Q399H	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1671	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	399			C2H2-type 2.		A8K6J1|Q9UEX4	Missense_Mutation	SNP	ENST00000596652.1	37	c.1197G>C	CCDS12973.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931507	0.52866	.	.	ENSG00000198131	ENST00000269829;ENST00000415203;ENST00000441758	T;T	0.18502	2.21;2.21	2.66	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16727	0.0402	M	0.64676	1.99	0.80722	D	1	B;P;P	0.43352	0.277;0.697;0.804	B;B;B	0.42030	0.097;0.284;0.373	T	0.04593	-1.0940	9	0.62326	D	0.03	.	3.6107	0.08060	0.1453:0.0:0.6147:0.24	.	371;371;399	B7ZAY1;B4DL50;Q6NX49	.;.;ZN544_HUMAN	H	399;371;63	ENSP00000269829:Q399H;ENSP00000394341:Q371H	ENSP00000269829:Q399H	Q	+	3	2	ZNF544	63464981	0.018000	0.18449	0.029000	0.17559	0.941000	0.58515	0.941000	0.29005	0.418000	0.25898	0.491000	0.48974	CAG		0.463	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		9	53	0	0	0	0.006214	0	9	53				
PXDN	7837	broad.mit.edu	37	2	1657494	1657494	+	Silent	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:1657494A>G	ENST00000252804.4	-	16	2060	c.2010T>C	c.(2008-2010)gtT>gtC	p.V670V		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	670					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGCCTGTTCAACTGTGTAAG	0.498																																							uc002qxa.2		NA																	0				pancreas(6)|ovary(2)	8						c.(2008-2010)GTT>GTC		peroxidasin precursor							63.0	65.0	64.0					2																	1657494		1946	4147	6093	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1657494A>G	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2010T>C	2.37:g.1657494A>G						PXDN_uc002qxb.1_Silent_p.V670V	p.V670V	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	16	2074	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	670					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.2010T>C	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	A	1.775	-0.483295	0.04383	.	.	ENSG00000130508	ENST00000433670	.	.	.	5.14	-0.741	0.11112	.	.	.	.	.	T	0.48624	0.1510	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34976	-0.9807	4	.	.	.	-33.8321	4.595	0.12325	0.3757:0.326:0.2316:0.0668	.	.	.	.	S	666	.	.	L	-	2	0	PXDN	1636501	0.995000	0.38212	0.945000	0.38365	0.060000	0.15804	0.508000	0.22692	-0.023000	0.13963	-1.315000	0.01301	TTG		0.498	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		4	2	0	0	0	0.009096	0	4	2				
C2orf48	348738	broad.mit.edu	37	2	10282472	10282472	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:10282472A>G	ENST00000381786.3	+	3	452	c.163A>G	c.(163-165)Agt>Ggt	p.S55G		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	55										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		ggggtgcgccagtggaagcgg	0.592																																							uc002rai.1		NA																	0					0						c.(163-165)AGT>GGT		hypothetical protein LOC348738							139.0	135.0	137.0					2																	10282472		2203	4300	6503	SO:0001583	missense	348738							g.chr2:10282472A>G	AK057831	CCDS1670.1	2p25.1	2006-09-01			ENSG00000163009	ENSG00000163009			26322	protein-coding gene	gene with protein product						12477932	Standard	NM_182626		Approved	FLJ25102	uc021vds.1	Q96LS8	OTTHUMG00000119017	ENST00000381786.3:c.163A>G	2.37:g.10282472A>G	ENSP00000371205:p.Ser55Gly						p.S55G	NM_182626	NP_872432	Q96LS8	CB048_HUMAN		Epithelial(75;0.188)	3	452	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		55						Missense_Mutation	SNP	ENST00000381786.3	37	c.163A>G	CCDS1670.1	.	.	.	.	.	.	.	.	.	.	a	3.860	-0.029985	0.07543	.	.	ENSG00000163009	ENST00000381786	T	0.37752	1.18	1.12	-1.85	0.07784	.	.	.	.	.	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18398	-1.0338	9	0.87932	D	0	.	4.5041	0.11879	0.4627:0.0:0.5373:0.0	.	55	Q96LS8	CB048_HUMAN	G	55	ENSP00000371205:S55G	ENSP00000371205:S55G	S	+	1	0	C2orf48	10199923	0.001000	0.12720	0.009000	0.14445	0.115000	0.19883	-0.731000	0.04909	-0.605000	0.05753	0.248000	0.18094	AGT		0.592	C2orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239217.1	NM_182626		19	101	0	0	0	0.00278	0	19	101				
SLC4A1AP	22950	broad.mit.edu	37	2	27886720	27886720	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:27886720G>A	ENST00000326019.6	+	1	383	c.101G>A	c.(100-102)aGg>aAg	p.R34K	SUPT7L_ENST00000464789.2_5'Flank|SUPT7L_ENST00000405491.1_5'Flank|SUPT7L_ENST00000337768.5_5'Flank|SUPT7L_ENST00000406540.1_5'Flank|SUPT7L_ENST00000404798.2_5'Flank	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	34						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GACGTGGACAGGAACGTAAAG	0.572																																							uc002rlk.3		NA																	0					0						c.(100-102)AGG>AAG		solute carrier family 4 (anion exchanger),							130.0	124.0	126.0					2																	27886720		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27886720G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.101G>A	2.37:g.27886720G>A	ENSP00000323837:p.Arg34Lys					SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank	p.R34K	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN			1	383	+	Acute lymphoblastic leukemia(172;0.155)		34					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.101G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640495	0.67244	.	.	ENSG00000163798	ENST00000326019	T	0.40225	1.04	4.08	4.08	0.47627	.	.	.	.	.	T	0.19644	0.0472	N	0.08118	0	0.20563	N	0.999882	B	0.29037	0.231	B	0.21360	0.034	T	0.05022	-1.0911	9	0.07030	T	0.85	-0.1489	11.9686	0.53051	0.0:0.0:1.0:0.0	.	34	Q9BWU0	NADAP_HUMAN	K	34	ENSP00000323837:R34K	ENSP00000323837:R34K	R	+	2	0	SLC4A1AP	27740224	0.996000	0.38824	0.807000	0.32361	0.039000	0.13416	3.073000	0.50057	2.271000	0.75665	0.555000	0.69702	AGG		0.572	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		21	80	0	0	0	0.008871	0	21	80				
ALK	238	broad.mit.edu	37	2	30142880	30142880	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:30142880G>C	ENST00000389048.3	-	1	1552	c.646C>G	c.(646-648)Ctc>Gtc	p.L216V	ALK_ENST00000431873.1_Missense_Mutation_p.L216V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	216					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	ATCTGGAAGAGAAGGCGGGGC	0.562			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														uc002rmy.2		NA	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(646-648)CTC>GTC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						33.0	41.0	38.0					2																	30142880		2202	4299	6501	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30142880G>C	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.646C>G	2.37:g.30142880G>C	ENSP00000373700:p.Leu216Val						p.L216V	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			1	1553	-	Acute lymphoblastic leukemia(172;0.155)		216			Extracellular (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.646C>G	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466036	0.43839	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.82893	-1.66;2.39	5.23	5.23	0.72850	.	.	.	.	.	T	0.73048	0.3537	N	0.24115	0.695	0.26767	N	0.969874	P	0.43788	0.817	B	0.39339	0.297	T	0.65651	-0.6116	8	.	.	.	.	13.5015	0.61459	0.0:0.1567:0.8433:0.0	.	216	Q9UM73	ALK_HUMAN	V	216	ENSP00000373700:L216V;ENSP00000414027:L216V	.	L	-	1	0	ALK	29996384	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	2.047000	0.41269	2.596000	0.87737	0.655000	0.94253	CTC		0.562	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		19	12	0	0	0	0.010504	0	19	12				
GALNT14	79623	broad.mit.edu	37	2	31165110	31165110	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:31165110C>T	ENST00000349752.5	-	9	1527	c.888G>A	c.(886-888)ggG>ggA	p.G296G	GALNT14_ENST00000324589.5_Silent_p.G301G|GALNT14_ENST00000356174.3_Silent_p.G263G|GALNT14_ENST00000420311.2_Silent_p.G261G|GALNT14_ENST00000406653.1_Silent_p.G276G|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	296	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TATCATATTTCCCCAGGTAAT	0.493																																							uc002rnr.2		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(886-888)GGG>GGA		N-acetylgalactosaminyltransferase 14							145.0	132.0	136.0					2																	31165110		2203	4300	6503	SO:0001819	synonymous_variant	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31165110C>T	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.888G>A	2.37:g.31165110C>T						GALNT14_uc002rnq.2_Silent_p.G276G|GALNT14_uc002rns.2_Silent_p.G301G|GALNT14_uc010ymr.1_Silent_p.G261G|GALNT14_uc010ezo.1_Silent_p.G263G|GALNT14_uc010ezp.1_Intron	p.G296G	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			9	1507	-	Acute lymphoblastic leukemia(172;0.155)		296			Lumenal (Potential).|Catalytic subdomain B.		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Silent	SNP	ENST00000349752.5	37	c.888G>A	CCDS1773.2																																																																																				0.493	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		48	19	0	0	0	0.01441	0	48	19				
BIRC6	57448	broad.mit.edu	37	2	32800426	32800426	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:32800426C>T	ENST00000421745.2	+	66	13482	c.13348C>T	c.(13348-13350)Cgt>Tgt	p.R4450C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4450					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTATACCAACCGTTTAAGGTA	0.358																																					Pancreas(94;175 1509 16028 18060 45422)	Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NA																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(13348-13350)CGT>TGT		baculoviral IAP repeat-containing 6							100.0	101.0	101.0					2																	32800426		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32800426C>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13348C>T	2.37:g.32800426C>T	ENSP00000393596:p.Arg4450Cys						p.R4450C	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			66	13482	+	Acute lymphoblastic leukemia(172;0.155)		4450					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.13348C>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	22.7	4.323450	0.81580	.	.	ENSG00000115760	ENST00000421745	T	0.76060	-0.99	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83926	0.5360	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.84718	0.0738	10	0.66056	D	0.02	.	14.6541	0.68820	0.1454:0.8546:0.0:0.0	.	4450	Q9NR09	BIRC6_HUMAN	C	4450	ENSP00000393596:R4450C	ENSP00000393596:R4450C	R	+	1	0	BIRC6	32653930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.502000	0.53332	2.701000	0.92244	0.655000	0.94253	CGT		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		43	26	0	0	0	0.00874	0	43	26				
EPAS1	2034	broad.mit.edu	37	2	46607470	46607470	+	Silent	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:46607470G>C	ENST00000263734.3	+	12	2169	c.1659G>C	c.(1657-1659)gcG>gcC	p.A553A		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	553					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)			GGCTCTTGGCGGAGAACCCAC	0.597																																							uc002ruv.2		NA																	0				ovary(1)|skin(1)	2						c.(1657-1659)GCG>GCC		endothelial PAS domain protein 1							67.0	76.0	73.0					2																	46607470		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.chr2:46607470G>C	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.1659G>C	2.37:g.46607470G>C						EPAS1_uc002ruw.2_Silent_p.A19A	p.A553A	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2147	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	553					Q86VA2|Q99630	Silent	SNP	ENST00000263734.3	37	c.1659G>C	CCDS1825.1																																																																																				0.597	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430		108	39	0	0	0	0.01441	0	108	39				
NRXN1	9378	broad.mit.edu	37	2	50149334	50149334	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:50149334G>A	ENST00000406316.2	-	22	5658	c.4182C>T	c.(4180-4182)atC>atT	p.I1394I	NRXN1_ENST00000402717.3_Silent_p.I1416I|NRXN1_ENST00000405472.3_Silent_p.I1416I|NRXN1_ENST00000406859.3_Silent_p.I1394I|NRXN1_ENST00000401669.2_Silent_p.I1424I|NRXN1_ENST00000404971.1_Silent_p.I1464I|NRXN1_ENST00000342183.5_Silent_p.I359I|NRXN1_ENST00000401710.1_Silent_p.I412I	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1394					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGACTCCCGGATCACTTCTG	0.532																																							uc010fbp.2		NA																	0				ovary(2)	2						c.(1075-1077)ATC>ATT		neurexin 1 isoform beta precursor							69.0	58.0	62.0					2																	50149334		2203	4300	6503	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50149334G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.4182C>T	2.37:g.50149334G>A						NRXN1_uc002rxb.3_Silent_p.I1093I|NRXN1_uc010fbq.2_Silent_p.I1464I|NRXN1_uc002rxe.3_Silent_p.I1394I|NRXN1_uc010yon.1_Silent_p.I59I|NRXN1_uc002rxa.3_Silent_p.I56I	p.I359I	NM_138735	NP_620072	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	1884	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	359			Extracellular (Potential).		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.1077C>T	CCDS54360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.268|6.268	0.417604|0.417604	0.11870|0.11870	.|.	.|.	ENSG00000179915|ENSG00000179915	ENST00000378262|ENST00000412315	.|.	.|.	.|.	5.95|5.95	-6.63|-6.63	0.01807|0.01807	.|.	.|.	.|.	.|.	.|.	T|T	0.59252|0.59252	0.2180|0.2180	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.61931|0.61931	-0.6961|-0.6961	4|4	.|.	.|.	.|.	.|.	12.8595|12.8595	0.57906|0.57906	0.298:0.0:0.6236:0.0784|0.298:0.0:0.6236:0.0784	.|.	.|.	.|.	.|.	S|F	61|127	.|.	.|.	P|S	-|-	1|2	0|0	NRXN1|NRXN1	50002838|50002838	0.995000|0.995000	0.38212|0.38212	0.858000|0.858000	0.33744|0.33744	0.985000|0.985000	0.73830|0.73830	0.260000|0.260000	0.18424|0.18424	-1.448000|-1.448000	0.01941|0.01941	-0.309000|-0.309000	0.09137|0.09137	CCG|TCC		0.532	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			15	41	0	0	0	0.004007	0	15	41				
VPS54	51542	broad.mit.edu	37	2	64169644	64169644	+	Silent	SNP	G	G	C	rs373361920		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:64169644G>C	ENST00000272322.4	-	11	1507	c.1353C>G	c.(1351-1353)ctC>ctG	p.L451L	VPS54_ENST00000409558.4_Silent_p.L439L|VPS54_ENST00000354504.3_Silent_p.L298L			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	451					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.L451L(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AAATATCCTTGAGCAGATCAA	0.328																																							uc002scq.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1351-1353)CTC>CTG		vacuolar protein sorting 54 isoform 1		G	,	2,4404		0,2,2201	29.0	29.0	29.0		1317,1353	1.0	1.0	2		29	0,8582		0,0,4291	no	coding-synonymous,coding-synonymous	VPS54	NM_001005739.1,NM_016516.2	,	0,2,6492	CC,CG,GG		0.0,0.0454,0.0154	,	439/966,451/978	64169644	2,12986	2203	4291	6494	SO:0001819	synonymous_variant	51542				protein transport|retrograde transport, endosome to Golgi			g.chr2:64169644G>C	AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.1353C>G	2.37:g.64169644G>C						VPS54_uc002scp.2_Silent_p.L439L|VPS54_uc010fct.2_Silent_p.L298L	p.L451L	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN			11	1516	-			451					Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	c.1353C>G	CCDS33208.1																																																																																				0.328	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2	NM_016516		12	12	0	0	0	0.003163	0	12	12				
C2orf78	388960	broad.mit.edu	37	2	74042383	74042383	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:74042383C>T	ENST00000409561.1	+	3	1154	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	345										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCCTACTAATCTCTTGACACT	0.438																																							uc002sjr.1		NA																	0				ovary(2)	2						c.(1033-1035)CTC>TTC		hypothetical protein LOC388960							53.0	51.0	52.0					2																	74042383		1877	4117	5994	SO:0001583	missense	388960							g.chr2:74042383C>T	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.1033C>T	2.37:g.74042383C>T	ENSP00000387124:p.Leu345Phe						p.L345F	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			3	1154	+			345						Missense_Mutation	SNP	ENST00000409561.1	37	c.1033C>T	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644480	0.00792	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	4.92	-1.86	0.07760	.	1.037100	0.07702	N	0.940643	T	0.16938	0.0407	N	0.17082	0.46	0.09310	N	1	B	0.18610	0.029	B	0.23716	0.048	T	0.28004	-1.0057	9	0.13470	T	0.59	0.8823	1.2597	0.01999	0.1425:0.3578:0.1391:0.3605	.	345	A6NCI8	CB078_HUMAN	F	345	.	ENSP00000340692:L345F	L	+	1	0	C2orf78	73895891	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.197000	0.09518	-0.669000	0.05289	-0.355000	0.07637	CTC		0.438	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		26	32	0	0	0	0.00333	0	26	32				
LIPT1	51601	broad.mit.edu	37	2	99778437	99778437	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:99778437C>T	ENST00000393473.2	+	3	241	c.17C>T	c.(16-18)tCa>tTa	p.S6L	LIPT1_ENST00000340066.1_Missense_Mutation_p.S6L|LIPT1_ENST00000393477.3_Missense_Mutation_p.S6L|MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393474.3_Missense_Mutation_p.S6L|LIPT1_ENST00000393471.2_Missense_Mutation_p.S6L	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	6					cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	ATCCCATTTTCAATGAAGAAT	0.323																																					GBM(84;665 1268 21657 25485 30647)	GBM(84;665 1268 21657 25485 30647)	uc002szm.3		NA																	0					0						c.(16-18)TCA>TTA		lipoyltransferase 1 precursor	Lipoic Acid(DB00166)						34.0	35.0	35.0					2																	99778437		2202	4295	6497	SO:0001583	missense	51601				lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity	g.chr2:99778437C>T	AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.17C>T	2.37:g.99778437C>T	ENSP00000377115:p.Ser6Leu					MRPL30_uc002szl.1_Intron|LIPT1_uc002szn.3_Missense_Mutation_p.S6L|LIPT1_uc002szo.3_Missense_Mutation_p.S6L|LIPT1_uc002szp.3_Missense_Mutation_p.S6L|LIPT1_uc002szq.3_Missense_Mutation_p.S6L|MRPL30_uc002szr.2_Intron	p.S6L	NM_145198	NP_660199	Q9Y234	LIPT_HUMAN			4	357	+			6					Q4ZFZ1	Missense_Mutation	SNP	ENST00000393473.2	37	c.17C>T	CCDS2039.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936832	0.34189	.	.	ENSG00000144182	ENST00000393473;ENST00000393477;ENST00000393474;ENST00000340066;ENST00000393471;ENST00000449211;ENST00000434566;ENST00000415142;ENST00000436234	.	.	.	5.06	4.18	0.49190	.	0.429786	0.22881	N	0.054509	T	0.56441	0.1985	M	0.62723	1.935	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.58346	-0.7652	9	0.87932	D	0	-2.947	7.6928	0.28577	0.1619:0.7559:0.0:0.0822	.	6	Q9Y234	LIPT_HUMAN	L	6	.	ENSP00000342071:S6L	S	+	2	0	LIPT1	99144869	0.891000	0.30450	0.988000	0.46212	0.980000	0.70556	1.932000	0.40143	1.362000	0.46000	0.655000	0.94253	TCA		0.323	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253128.1	NM_015929		17	12	0	0	0	0.007413	0	17	12				
ST6GAL2	84620	broad.mit.edu	37	2	107460238	107460238	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:107460238G>T	ENST00000409382.3	-	2	806	c.196C>A	c.(196-198)Cat>Aat	p.H66N	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.H66N|AC016994.2_ENST00000425419.1_RNA|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.H66N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	66					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAGGGCTCATGTGCGGCGCCC	0.706																																							uc002tdq.2		NA																	0				pancreas(6)|ovary(4)|skin(1)	11						c.(196-198)CAT>AAT		ST6 beta-galactosamide							14.0	18.0	17.0					2																	107460238		2180	4266	6446	SO:0001583	missense	84620				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr2:107460238G>T	AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.196C>A	2.37:g.107460238G>T	ENSP00000386942:p.His66Asn					ST6GAL2_uc002tdr.2_Missense_Mutation_p.H66N|ST6GAL2_uc002tds.3_Missense_Mutation_p.H66N	p.H66N	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN			2	315	-			66			Lumenal (Potential).		D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	ENST00000409382.3	37	c.196C>A	CCDS2073.1	.	.	.	.	.	.	.	.	.	.	G	7.942	0.743082	0.15642	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.30182	2.55;2.55;1.54	5.64	3.76	0.43208	.	0.635950	0.17363	N	0.176950	T	0.21347	0.0514	N	0.24115	0.695	0.09310	N	1	B;B	0.32467	0.372;0.094	B;B	0.24155	0.051;0.023	T	0.06356	-1.0831	10	0.52906	T	0.07	-15.0737	15.0746	0.72066	0.0:0.2697:0.7303:0.0	.	66;66	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	N	66	ENSP00000355273:H66N;ENSP00000386942:H66N;ENSP00000387332:H66N	ENSP00000355273:H66N	H	-	1	0	ST6GAL2	106826670	0.942000	0.31987	0.328000	0.25416	0.008000	0.06430	2.326000	0.43849	0.667000	0.31107	0.655000	0.94253	CAT		0.706	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330065.1	NM_032528		7	39	1	0	5.4927e-09	0.004482	6.43048e-09	7	39				
ARHGEF4	50649	broad.mit.edu	37	2	131797647	131797647	+	Missense_Mutation	SNP	G	G	A	rs201247468		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:131797647G>A	ENST00000326016.5	+	7	1325	c.806G>A	c.(805-807)gGa>gAa	p.G269E	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.G198E|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G269E|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G269E|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G269E|ARHGEF4_ENST00000428230.2_Intron	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	269					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGGAACAGCGGAGCGGAGGAC	0.672																																							uc002tsa.1		NA																	0				breast(3)|ovary(2)|skin(1)	6						c.(805-807)GGA>GAA		Rho guanine nucleotide exchange factor 4 isoform							41.0	41.0	41.0					2																	131797647		2198	4298	6496	SO:0001583	missense	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797647G>A	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.806G>A	2.37:g.131797647G>A	ENSP00000316845:p.Gly269Glu					ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.G269E|ARHGEF4_uc010fmx.1_Missense_Mutation_p.G269E|ARHGEF4_uc002tsc.1_5'UTR	p.G269E	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1326	+		Prostate(154;0.055)	269					Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	c.806G>A	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	G	5.902	0.350583	0.11182	.	.	ENSG00000136002	ENST00000326016;ENST00000392953;ENST00000525839;ENST00000409303;ENST00000355771	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	4.93	2.64	0.31445	Src homology-3 domain (1);Dbl homology (DH) domain (1);	0.906209	0.09583	N	0.782553	T	0.67562	0.2906	L	0.27053	0.805	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.51934	-0.8642	10	0.08381	T	0.77	.	4.6665	0.12668	0.6351:0.0:0.3649:0.0	.	269;269;269	E9PEM0;Q9NR80-4;Q9NR80	.;.;ARHG4_HUMAN	E	269;269;269;269;198	ENSP00000316845:G269E;ENSP00000376680:G269E;ENSP00000432267:G269E;ENSP00000387285:G269E;ENSP00000348017:G198E	ENSP00000316845:G269E	G	+	2	0	ARHGEF4	131514117	0.402000	0.25311	0.002000	0.10522	0.037000	0.13140	2.070000	0.41491	0.941000	0.37499	0.491000	0.48974	GGA		0.672	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			5	12	0	0	0	0.000602	0	5	12				
CCDC148	130940	broad.mit.edu	37	2	159196885	159196885	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:159196885G>C	ENST00000283233.5	-	5	668	c.355C>G	c.(355-357)Cag>Gag	p.Q119E	CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33E|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128E|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119E	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATGTGCACTGTTGTTCTGAT	0.338																																							uc002tzq.2		NA																	0				ovary(2)	2						c.(355-357)CAG>GAG		coiled-coil domain containing 148							124.0	123.0	123.0					2																	159196885		2203	4300	6503	SO:0001583	missense	130940							g.chr2:159196885G>C		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.355C>G	2.37:g.159196885G>C	ENSP00000283233:p.Gln119Glu					CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Missense_Mutation_p.Q66E|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Missense_Mutation_p.Q33E|CCDC148_uc002tzs.1_Missense_Mutation_p.Q119E	p.Q119E	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			5	618	-			119					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.355C>G	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	A	4.565	0.104945	0.08731	.	.	ENSG00000153237	ENST00000283233;ENST00000409187;ENST00000536771;ENST00000409889	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.67	4.52	0.55395	.	.	.	.	.	T	0.18882	0.0453	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.32134	-0.9918	9	0.02654	T	1	-0.008	7.931	0.29901	0.8484:0.0:0.1516:0.0	.	33;119	F5H839;Q8NFR7	.;CC148_HUMAN	E	119;128;33;119	ENSP00000283233:Q119E;ENSP00000386674:Q128E;ENSP00000443740:Q33E;ENSP00000386583:Q119E	ENSP00000283233:Q119E	Q	-	1	0	CCDC148	158905131	0.201000	0.23410	0.864000	0.33941	0.166000	0.22503	0.296000	0.19083	0.422000	0.26005	-1.061000	0.02294	CAG		0.338	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		3	42	0	0	0	0.004672	0	3	42				
PSMD14	10213	broad.mit.edu	37	2	162242025	162242025	+	Silent	SNP	A	A	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:162242025A>C	ENST00000409682.3	+	8	1217	c.513A>C	c.(511-513)ggA>ggC	p.G171G		NM_005805.5	NP_005796.1	O00487	PSDE_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 14	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K63-linked deubiquitination (GO:0070536)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, lid subcomplex (GO:0008541)	endopeptidase activator activity (GO:0061133)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|proteasome binding (GO:0070628)|ubiquitin thiolesterase activity (GO:0004221)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	12						TGGTCTTAGGACATGAACCAA	0.318																																							uc002ubu.2		NA																	0				breast(1)	1						c.(511-513)GGA>GGC		proteasome 26S subunit, non-ATPase 14							91.0	87.0	88.0					2																	162242025		1865	4105	5970	SO:0001819	synonymous_variant	10213				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity	g.chr2:162242025A>C	U86782	CCDS46437.1	2q14.3	2008-05-22			ENSG00000115233	ENSG00000115233		"""Proteasome (prosome, macropain) subunits"""	16889	protein-coding gene	gene with protein product		607173				9374539	Standard	NM_005805		Approved	POH1, pad1, Rpn11	uc002ubu.3	O00487	OTTHUMG00000153882	ENST00000409682.3:c.513A>C	2.37:g.162242025A>C							p.G171G	NM_005805	NP_005796	O00487	PSDE_HUMAN			8	980	+			171					B3KNW2|O00176	Silent	SNP	ENST00000409682.3	37	c.513A>C	CCDS46437.1																																																																																				0.318	PSMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332833.1	NM_005805		7	24	0	0	0	0.00308	0	7	24				
IFIH1	64135	broad.mit.edu	37	2	163124634	163124634	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:163124634C>G	ENST00000263642.2	-	14	3165	c.2770G>C	c.(2770-2772)Gag>Cag	p.E924Q		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	924					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCATTTTCTCAATTACATGG	0.388																																							uc002uce.2		NA																	0				ovary(1)	1						c.(2770-2772)GAG>CAG		interferon induced with helicase C domain 1							127.0	127.0	127.0					2																	163124634		2203	4300	6503	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163124634C>G	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.2770G>C	2.37:g.163124634C>G	ENSP00000263642:p.Glu924Gln						p.E924Q	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN			14	2992	-			924					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.2770G>C	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538877	0.85917	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.52295	0.67	4.83	4.83	0.62350	C-terminal domain of RIG-I (1);	0.107907	0.64402	D	0.000007	T	0.72630	0.3484	M	0.87180	2.865	0.52099	D	0.999941	D	0.89917	1.0	D	0.73380	0.98	T	0.75402	-0.3330	10	0.39692	T	0.17	-12.931	18.2919	0.90133	0.0:1.0:0.0:0.0	.	924	Q9BYX4	IFIH1_HUMAN	Q	924	ENSP00000263642:E924Q	ENSP00000263642:E924Q	E	-	1	0	IFIH1	162832880	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.182000	0.77689	2.383000	0.81215	0.650000	0.86243	GAG		0.388	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	NM_022168		6	41	0	0	0	0.001168	0	6	41				
SCN1A	6323	broad.mit.edu	37	2	166930121	166930121	+	Missense_Mutation	SNP	G	G	A	rs374317182		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:166930121G>A	ENST00000303395.4	-	1	10	c.11C>T	c.(10-12)aCa>aTa	p.T4I	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T4I|SCN1A_ENST00000409050.1_Missense_Mutation_p.T4I|SCN1A_ENST00000423058.2_Missense_Mutation_p.T4I|AC010127.3_ENST00000599041.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	4					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACAAGCACTGTTTGCTCCAT	0.383																																							uc010zcz.1		NA																	0				ovary(6)|skin(6)|large_intestine(1)	13						c.(10-12)ACA>ATA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	G	ILE/THR,ILE/THR,ILE/THR,ILE/THR	0,4406		0,0,2203	128.0	121.0	124.0		11,11,11,11	5.8	1.0	2		124	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	89,89,89,89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign,benign	4/2010,4/1982,4/2010,4/1999	166930121	1,13005	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166930121G>A	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.11C>T	2.37:g.166930121G>A	ENSP00000303540:p.Thr4Ile						p.T4I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			1	29	-			4					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.11C>T	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597152	0.66332	0.0	1.16E-4	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96104	-3.91;-3.91;-3.86;-3.84	5.77	5.77	0.91146	.	0.193185	0.36893	N	0.002358	D	0.91676	0.7369	N	0.14661	0.345	0.40874	D	0.983938	B	0.26547	0.152	B	0.30251	0.113	D	0.88657	0.3186	10	0.59425	D	0.04	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	4	P35498-2	.	I	4	ENSP00000407030:T4I;ENSP00000303540:T4I;ENSP00000364554:T4I;ENSP00000386312:T4I	ENSP00000303540:T4I	T	-	2	0	SCN1A	166638367	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.273000	0.65564	2.885000	0.99019	0.655000	0.94253	ACA		0.383	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		25	85	0	0	0	0.005443	0	25	85				
TTN	7273	broad.mit.edu	37	2	179452360	179452360	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:179452360C>G	ENST00000591111.1	-	256	58977	c.58753G>C	c.(58753-58755)Gac>Cac	p.D19585H	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12353H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12286H|TTN_ENST00000460472.2_Missense_Mutation_p.D12161H|TTN_ENST00000589042.1_Missense_Mutation_p.D21226H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18658H|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19585	Ig-like 109.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATAGTGTCAACCAGATCA	0.453																																							uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(55972-55974)GAC>CAC		titin isoform N2-A							95.0	89.0	91.0					2																	179452360		1933	4149	6082	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179452360C>G	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.58753G>C	2.37:g.179452360C>G	ENSP00000465570:p.Asp19585His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12353H|TTN_uc010zfi.1_Missense_Mutation_p.D12286H|TTN_uc010zfj.1_Missense_Mutation_p.D12161H	p.D18658H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		255	56196	-			19585					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.55972G>C		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444093	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71239	0.3316	M	0.84948	2.725	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74009	-0.3802	9	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	12161;12286;12353;19585	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	18658;12161;12353;12286;12159	ENSP00000343764:D18658H;ENSP00000434586:D12161H;ENSP00000340554:D12353H;ENSP00000352154:D12286H	ENSP00000340554:D12353H	D	-	1	0	TTN	179160606	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	7.770000	0.85390	2.835000	0.97688	0.650000	0.86243	GAC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		8	40	0	0	0	0.004482	0	8	40				
ZSWIM2	151112	broad.mit.edu	37	2	187703872	187703872	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:187703872T>C	ENST00000295131.2	-	4	347	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	103					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATCTCTCTTTCTCCAAGACC	0.403																																							uc002upu.1		NA																	0				ovary(2)|skin(1)	3						c.(307-309)GAA>GGA		zinc finger, SWIM domain containing 2							142.0	140.0	141.0					2																	187703872		2203	4300	6503	SO:0001583	missense	151112				apoptosis		zinc ion binding	g.chr2:187703872T>C	AK128006	CCDS33348.1	2q32.2	2008-02-05			ENSG00000163012	ENSG00000163012		"""Zinc fingers, SWIM-type"", ""Zinc fingers, ZZ-type"""	30990	protein-coding gene	gene with protein product						12477932	Standard	NM_182521		Approved	MGC33890, ZZZ2	uc002upu.1	Q8NEG5	OTTHUMG00000154259	ENST00000295131.2:c.308A>G	2.37:g.187703872T>C	ENSP00000295131:p.Glu103Gly						p.E103G	NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		4	348	-			103					B3KXV6|Q53SI3|Q57ZY3	Missense_Mutation	SNP	ENST00000295131.2	37	c.308A>G	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.451971	0.63290	.	.	ENSG00000163012	ENST00000295131	T	0.26223	1.75	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000069	T	0.50803	0.1637	M	0.76002	2.32	0.45239	D	0.998243	D	0.89917	1.0	D	0.85130	0.997	T	0.54543	-0.8278	10	0.72032	D	0.01	-21.5098	13.1558	0.59516	0.0:0.0:0.0:1.0	.	103	Q8NEG5	ZSWM2_HUMAN	G	103	ENSP00000295131:E103G	ENSP00000295131:E103G	E	-	2	0	ZSWIM2	187412117	1.000000	0.71417	0.875000	0.34327	0.362000	0.29581	5.424000	0.66464	2.084000	0.62774	0.528000	0.53228	GAA		0.403	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	NM_182521		64	139	0	0	0	0.01441	0	64	139				
COL5A2	1290	broad.mit.edu	37	2	189931462	189931462	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:189931462C>T	ENST00000374866.3	-	22	1722	c.1448G>A	c.(1447-1449)gGg>gAg	p.G483E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	483					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TACTGGTTCCCCTTTTGGGCC	0.363																																							uc002uqk.2		NA																	0				ovary(2)	2						c.(1447-1449)GGG>GAG		alpha 2 type V collagen preproprotein							84.0	90.0	88.0					2																	189931462		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189931462C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1448G>A	2.37:g.189931462C>T	ENSP00000364000:p.Gly483Glu					COL5A2_uc010frx.2_Intron	p.G483E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		22	1723	-			483					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1448G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036834	0.93630	.	.	ENSG00000204262	ENST00000374866	D	0.99619	-6.28	5.67	5.67	0.87782	.	0.000000	0.53938	D	0.000042	D	0.99806	0.9916	H	0.97131	3.945	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97175	0.9847	9	.	.	.	.	19.7461	0.96252	0.0:1.0:0.0:0.0	.	483	P05997	CO5A2_HUMAN	E	483	ENSP00000364000:G483E	.	G	-	2	0	COL5A2	189639707	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.654000	0.67974	2.833000	0.97629	0.585000	0.79938	GGG		0.363	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		49	105	0	0	0	0.01441	0	49	105				
PLCL1	5334	broad.mit.edu	37	2	198949080	198949080	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:198949080T>C	ENST00000428675.1	+	2	1237	c.839T>C	c.(838-840)aTc>aCc	p.I280T	PLCL1_ENST00000437704.2_Missense_Mutation_p.I182T	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	280					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAAGCCAAGATCAGGTTAAAG	0.418																																							uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(838-840)ATC>ACC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)						107.0	113.0	111.0					2																	198949080		2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198949080T>C	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.839T>C	2.37:g.198949080T>C	ENSP00000402861:p.Ile280Thr					PLCL1_uc002uuv.3_Missense_Mutation_p.I201T	p.I280T	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			2	1130	+			280					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.839T>C	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	T	17.87	3.496102	0.64186	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.46063	0.88;0.88	6.04	6.04	0.98038	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.52725	0.1752	L	0.58810	1.83	0.58432	D	0.999994	D;P	0.52996	0.957;0.864	P;P	0.52159	0.691;0.52	T	0.49597	-0.8923	9	.	.	.	.	16.5763	0.84648	0.0:0.0:0.0:1.0	.	280;206	Q15111;B4DYZ4	PLCL1_HUMAN;.	T	280;182	ENSP00000402861:I280T;ENSP00000414138:I182T	.	I	+	2	0	PLCL1	198657325	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.029000	0.88807	2.317000	0.78254	0.459000	0.35465	ATC		0.418	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		34	37	0	0	0	0.010818	0	34	37				
AOX1	316	broad.mit.edu	37	2	201515816	201515816	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:201515816G>A	ENST00000374700.2	+	26	3208	c.2967G>A	c.(2965-2967)agG>agA	p.R989R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	989					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACTCCTTGAGGAAAGTTGCTG	0.453																																							uc002uvx.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(2965-2967)AGG>AGA		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						162.0	157.0	159.0					2																	201515816		2203	4300	6503	SO:0001819	synonymous_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201515816G>A	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.2967G>A	2.37:g.201515816G>A						AOX1_uc010zhf.1_Silent_p.R545R|AOX1_uc010fsu.2_Silent_p.R355R	p.R989R	NM_001159	NP_001150	Q06278	ADO_HUMAN			26	3068	+			989					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Silent	SNP	ENST00000374700.2	37	c.2967G>A	CCDS33360.1																																																																																				0.453	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		21	134	0	0	0	0.014323	0	21	134				
ZNF142	7701	broad.mit.edu	37	2	219509702	219509702	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:219509702T>G	ENST00000449707.1	-	8	1958	c.1537A>C	c.(1537-1539)Atg>Ctg	p.M513L	ZNF142_ENST00000411696.2_Missense_Mutation_p.M513L	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ACCTCACACATCAGAGACTTG	0.597																																					Colon(170;867 1942 8995 15834 18053)	Colon(170;867 1942 8995 15834 18053)	uc002vin.2		NA																	0				breast(2)|ovary(1)|skin(1)	4						c.(1537-1539)ATG>CTG		zinc finger protein 142							59.0	66.0	64.0					2																	219509702		2168	4275	6443	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219509702T>G	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.1537A>C	2.37:g.219509702T>G	ENSP00000408643:p.Met513Leu					ZNF142_uc002vil.2_Missense_Mutation_p.M474L|ZNF142_uc010fvt.2_Missense_Mutation_p.M350L|ZNF142_uc002vim.2_Missense_Mutation_p.M350L	p.M513L	NM_001105537	NP_001099007	P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	8	1973	-		Renal(207;0.0474)	513			C2H2-type 12.		Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.1537A>C	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112566	0.77210	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.39406	1.08;1.08	5.95	5.95	0.96441	Zinc finger, C2H2-like (1);	0.131207	0.85682	D	0.000000	T	0.52805	0.1757	L	0.34521	1.04	0.31814	N	0.626838	P;P	0.46784	0.884;0.836	D;D	0.68039	0.919;0.955	T	0.54180	-0.8332	10	0.21014	T	0.42	5.1365	16.4237	0.83790	0.0:0.0:0.0:1.0	.	513;350	P52746;A8MWU9	ZN142_HUMAN;.	L	513	ENSP00000408643:M513L;ENSP00000398798:M513L	ENSP00000398798:M513L	M	-	1	0	ZNF142	219217946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.995000	0.63908	2.279000	0.76181	0.533000	0.62120	ATG		0.597	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		26	49	0	0	0	0.004656	0	26	49				
SPEG	10290	broad.mit.edu	37	2	220327061	220327061	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:220327061C>T	ENST00000312358.7	+	8	2790	c.2658C>T	c.(2656-2658)gtC>gtT	p.V886V	SPEG_ENST00000396698.1_Silent_p.V782V|SPEG_ENST00000396689.2_Silent_p.V37V|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396686.1_Silent_p.V37V|SPEG_ENST00000396695.2_Silent_p.V94V|SPEG_ENST00000396688.1_Silent_p.V37V	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	886	Ig-like 3.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCAAGATGTCATCATGAGCA	0.602																																							uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(2656-2658)GTC>GTT		SPEG complex locus							27.0	30.0	29.0					2																	220327061		2004	4178	6182	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220327061C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2658C>T	2.37:g.220327061C>T						SPEG_uc002vlm.2_RNA|SPEG_uc010fwh.1_Silent_p.V94V|SPEG_uc002vln.1_Silent_p.V94V|SPEG_uc002vlp.1_Silent_p.V94V|SPEG_uc002vlq.2_Silent_p.V37V	p.V886V	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	8	2658	+		Renal(207;0.0183)	886			Ig-like 3.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.2658C>T	CCDS42824.1																																																																																				0.602	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		3	5	0	0	0	0.004672	0	3	5				
AP1S3	130340	broad.mit.edu	37	2	224642491	224642492	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:224642491_224642492CC>AA	ENST00000446015.2	-	2	131_132	c.98_99GG>TT	c.(97-99)cGG>cTT	p.R33L	AP1S3_ENST00000396654.2_Missense_Mutation_p.R33L|AP1S3_ENST00000409375.1_Missense_Mutation_p.R33L|AP1S3_ENST00000443700.1_Missense_Mutation_p.R33L|AP1S3_ENST00000423110.1_Missense_Mutation_p.R33L|AP1S3_ENST00000396653.2_Missense_Mutation_p.R33L			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	33					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAACAATTTCCCGGGTGATCTT	0.401																																							uc010fwx.1		NA																	0					0						c.(97-99)CGG>CTT		adaptor-related protein complex 1, sigma 3																																				SO:0001583	missense	130340				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity	g.chr2:224642491_224642492CC>AA	AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.98_99delinsAA	2.37:g.224642491_224642492delinsAA	ENSP00000388738:p.Arg33Leu					AP1S3_uc002vnn.2_Missense_Mutation_p.R33L|AP1S3_uc010fww.2_RNA|AP1S3_uc002vno.2_RNA	p.R33L	NM_001039569	NP_001034658	Q96PC3	AP1S3_HUMAN		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)	2	250_251	-		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)	33					B4DQZ1|Q8WTY1|Q96DD1	Missense_Mutation	DNP	ENST00000446015.2	37	c.98_99GG>TT																																																																																					0.401	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000383293.1			19	27	0	0	0	0.004672	0	19	27				
SPHKAP	80309	broad.mit.edu	37	2	228996711	228996711	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:228996711G>A	ENST00000392056.3	-	2	169	c.123C>T	c.(121-123)atC>atT	p.I41I	SPHKAP_ENST00000344657.5_Silent_p.I41I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	41						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TACAGGCTGTGATGGAGTTCC	0.468																																							uc002vpq.2		NA																	0				skin(5)|ovary(4)|lung(1)	10						c.(121-123)ATC>ATT		sphingosine kinase type 1-interacting protein							90.0	96.0	94.0					2																	228996711		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228996711G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.123C>T	2.37:g.228996711G>A						SPHKAP_uc002vpp.2_Silent_p.I41I|SPHKAP_uc010zlx.1_Silent_p.I41I	p.I41I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	2	170	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	41					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.123C>T	CCDS46537.1																																																																																				0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		26	96	0	0	0	0.004656	0	26	96				
UGT1A9	54600	broad.mit.edu	37	2	234581085	234581085	+	Missense_Mutation	SNP	G	G	A	rs372244167		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:234581085G>A	ENST00000354728.4	+	1	587	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	UGT1A1_ENST00000609637.1_Missense_Mutation_p.A169T|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	169					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	CGTGGTCTTCGCCAGGGGAAT	0.458																																							uc002vus.2		NA																	0				ovary(3)|breast(1)|skin(1)	5						c.(505-507)GCC>ACC		UDP glycosyltransferase 1 family, polypeptide A9	Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398)						156.0	159.0	158.0					2																	234581085		2203	4300	6503	SO:0001583	missense	54600				drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding	g.chr2:234581085G>A	AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.505G>A	2.37:g.234581085G>A	ENSP00000346768:p.Ala169Thr					UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.A169T	p.A169T	NM_021027	NP_066307	O60656	UD19_HUMAN		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	1	542	+		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)	169					B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	c.505G>A	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	g	1.445	-0.566636	0.03910	.	.	ENSG00000241119	ENST00000354728	T	0.61742	0.08	3.41	-6.83	0.01693	.	.	.	.	.	T	0.23171	0.0560	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.16988	-1.0384	9	0.62326	D	0.03	.	0.4003	0.00425	0.272:0.1513:0.2056:0.3711	.	169;169	Q5DSZ5;O60656	.;UD19_HUMAN	T	169	ENSP00000346768:A169T	ENSP00000346768:A169T	A	+	1	0	UGT1A9	234245824	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-2.721000	0.00811	-2.721000	0.00389	-3.407000	0.00038	GCC		0.458	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027		32	201	0	0	0	0.003271	0	32	201				
ANO7	50636	broad.mit.edu	37	2	242140746	242140746	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:242140746C>T	ENST00000274979.8	+	7	853	c.750C>T	c.(748-750)ttC>ttT	p.F250F	ANO7_ENST00000402430.3_Silent_p.F249F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	250					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ACACCTTCTTCACAAGCACCA	0.592																																							uc002wax.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(748-750)TTC>TTT		transmembrane protein 16G isoform NGEP long							118.0	94.0	102.0					2																	242140746		2203	4300	6503	SO:0001819	synonymous_variant	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242140746C>T	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.750C>T	2.37:g.242140746C>T							p.F250F	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			7	853	+			250			Cytoplasmic (Potential).		Q6IWH6	Silent	SNP	ENST00000274979.8	37	c.750C>T	CCDS33423.1																																																																																				0.592	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		21	36	0	0	0	0.008871	0	21	36				
D2HGDH	728294	broad.mit.edu	37	2	242690737	242690737	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:242690737G>A	ENST00000321264.4	+	8	1283	c.1074G>A	c.(1072-1074)ctG>ctA	p.L358L	D2HGDH_ENST00000403782.1_Silent_p.L224L|D2HGDH_ENST00000486953.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	358					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCCACTTCCTGGAGCACGCGC	0.612																																							uc002wce.1		NA																	0					0						c.(1072-1074)CTG>CTA		D-2-hydroxyglutarate dehydrogenase precursor							58.0	55.0	56.0					2																	242690737		2203	4296	6499	SO:0001819	synonymous_variant	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242690737G>A	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.1074G>A	2.37:g.242690737G>A						D2HGDH_uc010zpc.1_RNA|D2HGDH_uc010fzq.1_Silent_p.L224L|D2HGDH_uc002wcg.1_Intron|D2HGDH_uc002wch.2_Intron|D2HGDH_uc002wci.2_Silent_p.L57L	p.L358L	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	8	1247	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	358					B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Silent	SNP	ENST00000321264.4	37	c.1074G>A	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	G	4.594	0.110425	0.08780	.	.	ENSG00000180902	ENST00000432449	.	.	.	5.1	2.25	0.28309	.	.	.	.	.	T	0.54886	0.1886	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46331	-0.9199	4	.	.	.	-4.9213	6.9517	0.24548	0.2136:0.1288:0.6577:0.0	.	.	.	.	R	112	.	.	G	+	1	0	D2HGDH	242339410	1.000000	0.71417	0.998000	0.56505	0.290000	0.27261	0.891000	0.28309	0.519000	0.28406	0.561000	0.74099	GGA		0.612	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783		21	27	0	0	0	0.014323	0	21	27				
PCED1A	64773	broad.mit.edu	37	20	2816190	2816190	+	Missense_Mutation	SNP	C	C	A	rs544217065		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:2816190C>A	ENST00000360652.2	-	8	1785	c.1283G>T	c.(1282-1284)cGg>cTg	p.R428L	PCED1A_ENST00000356872.3_Missense_Mutation_p.R377L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	428																	GTGTCTGAGCCGCTGCCTGCA	0.622																																							uc002wgz.1		NA																	0				ovary(2)	2						c.(1282-1284)CGG>CTG		hypothetical protein LOC64773							68.0	62.0	64.0					20																	2816190		2203	4300	6503	SO:0001583	missense	64773						hydrolase activity|protein binding	g.chr20:2816190C>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1283G>T	20.37:g.2816190C>A	ENSP00000353868:p.Arg428Leu					FAM113A_uc002whb.1_Missense_Mutation_p.R279L|FAM113A_uc002wha.1_Missense_Mutation_p.R279L|FAM113A_uc010zqa.1_Missense_Mutation_p.R275L|FAM113A_uc002whc.1_Missense_Mutation_p.R377L	p.R428L	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			8	1780	-			428					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.1283G>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920253	0.73098	.	.	ENSG00000132635	ENST00000356872;ENST00000360652	T;T	0.47528	0.84;0.86	3.7	3.7	0.42460	.	0.090204	0.42682	D	0.000670	T	0.61615	0.2361	L	0.58101	1.795	0.37478	D	0.915891	D;D;D;D	0.71674	0.998;0.997;0.997;0.997	D;D;D;D	0.80764	0.994;0.987;0.987;0.987	T	0.67998	-0.5525	10	0.72032	D	0.01	-7.4444	11.2528	0.49037	0.0:1.0:0.0:0.0	.	377;424;275;428	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	377;428	ENSP00000349334:R377L;ENSP00000353868:R428L	ENSP00000349334:R377L	R	-	2	0	FAM113A	2764190	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.239000	0.51360	2.366000	0.80165	0.555000	0.69702	CGG		0.622	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		39	22	1	0	1.07121e-22	0.006999	1.37115e-22	39	22				
CDS2	8760	broad.mit.edu	37	20	5159590	5159590	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:5159590C>G	ENST00000460006.1	+	5	824	c.517C>G	c.(517-519)Ctc>Gtc	p.L173V	CDS2_ENST00000379062.4_Missense_Mutation_p.L53V|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_5'UTR	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	173					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						TTCCTTTACTCTCTATCTAAT	0.408																																							uc002wls.2		NA																	0					0						c.(517-519)CTC>GTC		phosphatidate cytidylyltransferase 2							168.0	156.0	160.0					20																	5159590		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5159590C>G	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.517C>G	20.37:g.5159590C>G	ENSP00000419879:p.Leu173Val					CDS2_uc002wlr.1_Missense_Mutation_p.L95V|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.L118V|CDS2_uc010zqu.1_Missense_Mutation_p.L53V|CDS2_uc002wlv.2_Missense_Mutation_p.L75V|CDS2_uc010zqv.1_5'UTR	p.L173V	NM_003818	NP_003809	O95674	CDS2_HUMAN			5	774	+			173			Helical; (Potential).		B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.517C>G	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318719	0.81469	.	.	ENSG00000101290	ENST00000460006;ENST00000450570;ENST00000379062	T;T;T	0.56103	0.48;0.48;0.48	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.74596	0.3737	M	0.85945	2.785	0.80722	D	1	D;D;D;D	0.63046	0.971;0.971;0.992;0.992	D;D;D;D	0.67900	0.926;0.926;0.954;0.954	T	0.78653	-0.2120	10	0.59425	D	0.04	-20.8453	16.89	0.86084	0.0:1.0:0.0:0.0	.	53;173;173;173	E7EQ83;B3KM95;O95674;B3KNK4	.;.;CDS2_HUMAN;.	V	173;118;53	ENSP00000419879:L173V;ENSP00000403205:L118V;ENSP00000368352:L53V	ENSP00000368352:L53V	L	+	1	0	CDS2	5107590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.581000	0.60949	2.545000	0.85829	0.655000	0.94253	CTC		0.408	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			31	49	0	0	0	0.013726	0	31	49				
OTOR	56914	broad.mit.edu	37	20	16730565	16730565	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:16730565G>T	ENST00000246081.2	+	3	317	c.273G>T	c.(271-273)caG>caT	p.Q91H	OTOR_ENST00000486129.1_3'UTR	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	91	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGATGGCCAGGACGAGATGG	0.502																																							uc002wpj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(271-273)CAG>CAT		otoraplin precursor							98.0	78.0	85.0					20																	16730565		2203	4300	6503	SO:0001583	missense	56914				sensory perception of sound	extracellular region		g.chr20:16730565G>T	AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.273G>T	20.37:g.16730565G>T	ENSP00000246081:p.Gln91His					OTOR_uc002wpk.2_RNA	p.Q91H	NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN			3	317	+			91			SH3.		D3DW22|Q3MIU6	Missense_Mutation	SNP	ENST00000246081.2	37	c.273G>T	CCDS13124.1	.	.	.	.	.	.	.	.	.	.	G	8.494	0.862708	0.17178	.	.	ENSG00000125879	ENST00000246081	T	0.81415	-1.49	5.78	2.58	0.30949	Src homology-3 domain (2);Variant SH3 (1);	0.365590	0.32161	N	0.006486	T	0.65491	0.2696	N	0.22421	0.69	0.33801	D	0.626685	B	0.29766	0.256	B	0.35470	0.203	T	0.65001	-0.6274	10	0.24483	T	0.36	-30.8066	5.7545	0.18164	0.2159:0.0:0.6415:0.1426	.	91	Q9NRC9	OTOR_HUMAN	H	91	ENSP00000246081:Q91H	ENSP00000246081:Q91H	Q	+	3	2	OTOR	16678565	1.000000	0.71417	0.861000	0.33841	0.525000	0.34531	1.064000	0.30579	1.470000	0.48102	0.655000	0.94253	CAG		0.502	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078108.2			5	25	1	0	0.00116845	0.001168	0.00127467	5	25				
TM9SF4	9777	broad.mit.edu	37	20	30720911	30720911	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:30720911C>T	ENST00000398022.2	+	2	346	c.111C>T	c.(109-111)aaC>aaT	p.N37N	TM9SF4_ENST00000217315.5_Silent_p.N20N	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	37						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCACCAGAACGATCCCGTAG	0.517																																							uc002wxj.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(109-111)AAC>AAT		transmembrane 9 superfamily protein member 4							135.0	112.0	120.0					20																	30720911		2203	4300	6503	SO:0001819	synonymous_variant	9777					integral to membrane		g.chr20:30720911C>T	BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.111C>T	20.37:g.30720911C>T						TM9SF4_uc010ztr.1_Translation_Start_Site|TM9SF4_uc010zts.1_Translation_Start_Site|TM9SF4_uc002wxk.2_Silent_p.N20N	p.N37N	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	346	+			37					B0QYT7|Q9NUA3	Silent	SNP	ENST00000398022.2	37	c.111C>T	CCDS13196.2																																																																																				0.517	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323568.1	NM_014742		5	56	0	0	0	0.000602	0	5	56				
GHRH	2691	broad.mit.edu	37	20	35885254	35885254	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:35885254G>A	ENST00000373614.2	-	2	150	c.39C>T	c.(37-39)ctC>ctT	p.L13L	GHRH_ENST00000373611.2_Silent_p.L13L|GHRH_ENST00000237527.3_Silent_p.L13L			P01286	SLIB_HUMAN	growth hormone releasing hormone	13					adenohypophysis development (GO:0021984)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell-cell signaling (GO:0007267)|growth hormone secretion (GO:0030252)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|response to food (GO:0032094)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|terminal bouton (GO:0043195)	growth hormone-releasing hormone activity (GO:0016608)|growth hormone-releasing hormone receptor binding (GO:0031770)			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				AGCTGTTGCTGAGGGTGAGGA	0.612																																							uc002xgr.2		NA																	0				ovary(1)	1						c.(37-39)CTC>CTT		growth hormone releasing hormone preproprotein							71.0	53.0	59.0					20																	35885254		2203	4300	6503	SO:0001819	synonymous_variant	2691				activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding	g.chr20:35885254G>A		CCDS13292.1, CCDS54460.1	20q11.2	2014-01-30			ENSG00000118702	ENSG00000118702		"""Endogenous ligands"""	4265	protein-coding gene	gene with protein product	"""sermorelin"", ""somatocrinin"", ""somatoliberin"""	139190		GHRF		3918305	Standard	NM_021081		Approved		uc002xgr.3	P01286	OTTHUMG00000032413	ENST00000373614.2:c.39C>T	20.37:g.35885254G>A						GHRH_uc002xgs.2_Silent_p.L13L|GHRH_uc002xgt.2_Silent_p.L13L	p.L13L	NM_021081	NP_066567	P01286	SLIB_HUMAN			1	39	-		Myeloproliferative disorder(115;0.00878)	13					Q4KN10|Q5JYR1	Silent	SNP	ENST00000373614.2	37	c.39C>T	CCDS13292.1																																																																																				0.612	GHRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079094.2			6	31	0	0	0	0.00308	0	6	31				
JPH2	57158	broad.mit.edu	37	20	42788372	42788372	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:42788372C>A	ENST00000372980.3	-	2	1927	c.1055G>T	c.(1054-1056)cGc>cTc	p.R352L		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	352					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CAGCATGCGGCGCTTGGTGTC	0.667																																							uc002xli.1		NA																	0					0						c.(1054-1056)CGC>CTC		junctophilin 2 isoform 1							55.0	45.0	49.0					20																	42788372		2203	4300	6503	SO:0001583	missense	57158				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr20:42788372C>A	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.1055G>T	20.37:g.42788372C>A	ENSP00000362071:p.Arg352Leu						p.R352L	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		2	1928	-		Myeloproliferative disorder(115;0.0122)	352			Cytoplasmic (Potential).		E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	c.1055G>T	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	15.04	2.714293	0.48622	.	.	ENSG00000149596	ENST00000372980	T	0.60299	0.2	3.12	2.04	0.26737	.	0.063648	0.64402	U	0.000018	T	0.41166	0.1147	L	0.46157	1.445	0.80722	D	1	P	0.35894	0.526	B	0.31869	0.137	T	0.43893	-0.9363	10	0.62326	D	0.03	.	3.0458	0.06153	0.0:0.4778:0.0:0.5221	.	352	Q9BR39	JPH2_HUMAN	L	352	ENSP00000362071:R352L	ENSP00000362071:R352L	R	-	2	0	JPH2	42221786	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.684000	0.61686	1.550000	0.49438	0.306000	0.20318	CGC		0.667	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1			15	40	1	0	6.49762e-13	0.006122	7.89584e-13	15	40				
UBE2C	11065	broad.mit.edu	37	20	44444383	44444383	+	Splice_Site	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:44444383A>G	ENST00000356455.4	+	4	540	c.420A>G	c.(418-420)ggA>ggG	p.G140G	UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000372568.4_Splice_Site_p.G101G|UBE2C_ENST00000405520.1_Splice_Site_p.G101G|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000352551.5_Splice_Site_p.G111G	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	140					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				GCCTTCTAGGAGGTGACTTTA	0.542																																							uc002xpm.2		NA																	0					0						c.(418-420)GGA>GGG		ubiquitin-conjugating enzyme E2C isoform 1							102.0	91.0	95.0					20																	44444383		2203	4300	6503	SO:0001630	splice_region_variant	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44444383A>G	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.421+1A>G	20.37:g.44444383A>G						UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Silent_p.G101G|UBE2C_uc002xpo.2_Silent_p.G111G|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Silent_p.G101G	p.G140G	NM_007019	NP_008950	O00762	UBE2C_HUMAN			4	500	+		Myeloproliferative disorder(115;0.0122)	140					A6NP33|E1P5N7|G3XAB7	Silent	SNP	ENST00000356455.4	37	c.420A>G	CCDS13370.1																																																																																				0.542	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019	Silent	13	83	0	0	0	0.013537	0	13	83				
MC3R	4159	broad.mit.edu	37	20	54823932	54823932	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:54823932G>A	ENST00000243911.2	+	1	145	c.33G>A	c.(31-33)caG>caA	p.Q11Q		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	11					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTCTGTTCAGCCAACACTGC	0.587																																							uc002xxb.2		NA																	0				ovary(2)|breast(2)	4						c.(31-33)CAG>CAA		melanocortin 3 receptor							134.0	135.0	134.0					20																	54823932		2203	4300	6503	SO:0001819	synonymous_variant	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54823932G>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.33G>A	20.37:g.54823932G>A							p.Q11Q	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	145	+			48			Extracellular (Potential).		Q4KN27|Q9H517	Silent	SNP	ENST00000243911.2	37	c.33G>A	CCDS13449.2																																																																																				0.587	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			81	168	0	0	0	0.01441	0	81	168				
HMGB1P1	10357	broad.mit.edu	37	20	56063817	56063817	+	IGR	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:56063817G>C								RBM38 (79428 upstream) : CTCFL (7217 downstream)																							TGGGATCCTTGAACTTCTTTT	0.453																																							uc010zzl.1		NA																	0					NA						c.(265-267)TTC>TTG		high-mobility group box 1-like 1							103.0	113.0	110.0					20																	56063817		2203	4298	6501	SO:0001628	intergenic_variant	0							g.chr20:56063817G>C																													20.37:g.56063817G>C							p.F89L	NM_001008735	NP_001008735					1	267	-									Missense_Mutation	SNP		37	c.267C>G																																																																																				0	0.453									29	88	0	0	0	0.008361	0	29	88				
ZNF831	128611	broad.mit.edu	37	20	57767550	57767550	+	Silent	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr20:57767550C>G	ENST00000371030.2	+	1	1476	c.1476C>G	c.(1474-1476)ctC>ctG	p.L492L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	492							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCACTCAGCTCTCCACCACCG	0.701																																							uc002yan.2		NA																	0				skin(13)|ovary(1)	14						c.(1474-1476)CTC>CTG		zinc finger protein 831							24.0	29.0	27.0					20																	57767550		2003	4159	6162	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767550C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1476C>G	20.37:g.57767550C>G							p.L492L	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	1476	+	all_lung(29;0.0085)		492					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.1476C>G	CCDS42894.1																																																																																				0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		24	59	0	0	0	0.00333	0	24	59				
KRTAP26-1	388818	broad.mit.edu	37	21	31692174	31692174	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:31692174G>A	ENST00000360542.3	-	1	433	c.180C>T	c.(178-180)tgC>tgT	p.C60C		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	60						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTGGTTCACCGCAGGTCTCTT	0.567																																							uc002ynw.2		NA																	0				ovary(1)	1						c.(178-180)TGC>TGT		keratin associated protein 26-1							116.0	113.0	114.0					21																	31692174		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692174G>A	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.180C>T	21.37:g.31692174G>A							p.C60C	NM_203405	NP_981950	Q6PEX3	KR261_HUMAN			1	434	-			60					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.180C>T	CCDS13588.1																																																																																				0.567	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		38	53	0	0	0	0.007835	0	38	53				
DONSON	29980	broad.mit.edu	37	21	34951771	34951771	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:34951771G>A	ENST00000303071.5	-	9	1514	c.1448C>T	c.(1447-1449)tCa>tTa	p.S483L	DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron|DONSON_ENST00000303113.6_Missense_Mutation_p.S469L	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	483					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						CATGGTCAGTGAATGCAGAGA	0.448																																							uc002ysk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1447-1449)TCA>TTA		downstream neighbor of SON							158.0	142.0	147.0					21																	34951771		2203	4300	6503	SO:0001583	missense	29980				multicellular organismal development	nucleus		g.chr21:34951771G>A	AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1448C>T	21.37:g.34951771G>A	ENSP00000307143:p.Ser483Leu					DONSON_uc002ysi.1_Missense_Mutation_p.S243L|DONSON_uc002ysj.2_Missense_Mutation_p.S116L|DONSON_uc002ysl.2_Missense_Mutation_p.S116L|DONSON_uc010gme.2_Missense_Mutation_p.S456L|DONSON_uc002ysm.2_Missense_Mutation_p.S483L	p.S483L	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN			9	1515	-			483					Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	ENST00000303071.5	37	c.1448C>T	CCDS13632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.88|10.88	1.475468|1.475468	0.26511|0.26511	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000303071	.|.	.|.	.|.	5.82|5.82	3.98|3.98	0.46160|0.46160	.|.	.|0.313939	.|0.35555	.|N	.|0.003138	T|T	0.64583|0.64583	0.2611|0.2611	M|M	0.84846|0.84846	2.72|2.72	0.49582|0.49582	D|D	0.999808|0.999808	.|B;B	.|0.21905	.|0.062;0.062	.|B;B	.|0.19666	.|0.026;0.026	T|T	0.63102|0.63102	-0.6712|-0.6712	5|9	.|0.52906	.|T	.|0.07	-5.2119|-5.2119	10.5793|10.5793	0.45246|0.45246	0.0692:0.0:0.7975:0.1333|0.0692:0.0:0.7975:0.1333	.|.	.|469;483	.|F8W8A5;Q9NYP3	.|.;DONS_HUMAN	Y|L	454|469;483	.|.	.|ENSP00000307143:S483L	H|S	-|-	1|2	0|0	DONSON|DONSON	33873641|33873641	0.268000|0.268000	0.24133|0.24133	0.002000|0.002000	0.10522|0.10522	0.165000|0.165000	0.22458|0.22458	1.589000|1.589000	0.36644|0.36644	0.779000|0.779000	0.33543|0.33543	0.467000|0.467000	0.42956|0.42956	CAC|TCA		0.448	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141184.1	NM_017613		7	39	0	0	0	0.001984	0	7	39				
PRDM15	63977	broad.mit.edu	37	21	43280475	43280475	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:43280475C>G	ENST00000269844.3	-	8	1008	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PRDM15_ENST00000447207.2_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.E37Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.E37Q|PRDM15_ENST00000538201.1_5'UTR	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCAGCCATCTCTGACACCTGT	0.463																																							uc002yzq.1		NA																	0					0						c.(898-900)GAG>CAG		PR domain containing 15 isoform 1							106.0	94.0	98.0					21																	43280475		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43280475C>G	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.898G>C	21.37:g.43280475C>G	ENSP00000269844:p.Glu300Gln					PRDM15_uc002yzo.2_Missense_Mutation_p.E37Q|PRDM15_uc002yzp.2_Missense_Mutation_p.E37Q|PRDM15_uc002yzr.1_Missense_Mutation_p.E37Q	p.E300Q	NM_022115	NP_071398	P57071	PRD15_HUMAN			8	1009	-			300					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.898G>C	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667248	0.29604	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000269844	T;T;T	0.10192	3.11;3.11;2.9	4.73	3.85	0.44370	.	.	.	.	.	T	0.08403	0.0209	L	0.27053	0.805	0.22591	N	0.998959	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.15870	0.014;0.011;0.007	T	0.25047	-1.0143	9	0.54805	T	0.06	.	8.4172	0.32678	0.0:0.8014:0.0:0.1986	.	300;37;37	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	37;37;300	ENSP00000408592:E37Q;ENSP00000381556:E37Q;ENSP00000269844:E300Q	ENSP00000269844:E300Q	E	-	1	0	PRDM15	42153544	0.001000	0.12720	0.041000	0.18516	0.943000	0.58893	1.162000	0.31786	1.100000	0.41517	0.563000	0.77884	GAG		0.463	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		25	17	0	0	0	0.008361	0	25	17				
KRTAP10-5	386680	broad.mit.edu	37	21	45999772	45999772	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:45999772T>C	ENST00000400372.1	-	1	709	c.684A>G	c.(682-684)atA>atG	p.I228M	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	228	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CGGGCCTGCATATGGGGCGGC	0.677																																							uc002zfl.1		NA																	0					0						c.(682-684)ATA>ATG		keratin associated protein 10-5							64.0	74.0	71.0					21																	45999772		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999772T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.684A>G	21.37:g.45999772T>C	ENSP00000383223:p.Ile228Met					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.I228M	NM_198694	NP_941967	P60370	KR105_HUMAN			1	710	-			228			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.684A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	t	7.084	0.570758	0.13560	.	.	ENSG00000241123	ENST00000400372	T	0.00724	5.78	3.66	1.72	0.24424	.	.	.	.	.	T	0.00637	0.0021	N	0.08118	0	0.22330	N	0.999199	B	0.29766	0.256	B	0.37989	0.262	T	0.50110	-0.8866	9	0.62326	D	0.03	.	3.7735	0.08650	0.0:0.5592:0.2067:0.2341	.	228	P60370	KR105_HUMAN	M	228	ENSP00000383223:I228M	ENSP00000383223:I228M	I	-	3	3	KRTAP10-5	44824200	.	.	0.988000	0.46212	0.040000	0.13550	.	.	0.301000	0.22738	-0.392000	0.06488	ATA		0.677	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			3	87	0	0	0	0.004672	0	3	87				
KRTAP10-5	386680	broad.mit.edu	37	21	45999774	45999774	+	Missense_Mutation	SNP	T	T	C	rs200900562	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:45999774T>C	ENST00000400372.1	-	1	707	c.682A>G	c.(682-684)Ata>Gta	p.I228V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	228	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I228V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGCATATGGGGCGGCAG	0.682													.|||	3	0.000599042	0.0	0.0	5008	,	,		18832	0.0		0.001	False		,,,				2504	0.002						uc002zfl.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(682-684)ATA>GTA		keratin associated protein 10-5							65.0	76.0	72.0					21																	45999774		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999774T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.682A>G	21.37:g.45999774T>C	ENSP00000383223:p.Ile228Val					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.I228V	NM_198694	NP_941967	P60370	KR105_HUMAN			1	708	-			228			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.682A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.194699	0.00299	.	.	ENSG00000241123	ENST00000400372	T	0.00640	6.03	3.66	-0.867	0.10655	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.555	0.21064	N	0.999794	B	0.20550	0.046	B	0.25405	0.06	T	0.45396	-0.9264	9	0.02654	T	1	.	3.5285	0.07768	0.1652:0.5698:0.1611:0.1039	.	228	P60370	KR105_HUMAN	V	228	ENSP00000383223:I228V	ENSP00000383223:I228V	I	-	1	0	KRTAP10-5	44824202	.	.	0.972000	0.41901	0.048000	0.14542	.	.	-0.051000	0.13334	-0.835000	0.03068	ATA		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			3	91	0	0	0	0.004672	0	3	91				
PCNT	5116	broad.mit.edu	37	21	47786839	47786839	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr21:47786839G>A	ENST00000359568.5	+	15	3057	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	984					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GACCATCCGTGAGGAGCACAG	0.502																																							uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(2950-2952)GAG>AAG		pericentrin							101.0	111.0	108.0					21																	47786839		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47786839G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2950G>A	21.37:g.47786839G>A	ENSP00000352572:p.Glu984Lys					PCNT_uc002zjj.2_Missense_Mutation_p.E866K	p.E984K	NM_006031	NP_006022	O95613	PCNT_HUMAN			15	3057	+	Breast(49;0.112)		984					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.2950G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184985	0.38609	.	.	ENSG00000160299	ENST00000359568	T	0.28454	1.61	5.29	2.46	0.29980	.	1.351800	0.05426	N	0.545104	T	0.24431	0.0592	L	0.50333	1.59	0.09310	N	1	B;B	0.23442	0.053;0.085	B;B	0.15484	0.013;0.006	T	0.30119	-0.9989	10	0.06625	T	0.88	.	6.1281	0.20189	0.1662:0.1552:0.6786:0.0	.	866;984	O95613-2;O95613	.;PCNT_HUMAN	K	984	ENSP00000352572:E984K	ENSP00000352572:E984K	E	+	1	0	PCNT	46611267	1.000000	0.71417	0.004000	0.12327	0.008000	0.06430	1.849000	0.39318	0.607000	0.29982	-0.258000	0.10820	GAG		0.502	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		40	111	0	0	0	0.00623	0	40	111				
CCT8L2	150160	broad.mit.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:17072541G>A	ENST00000359963.3	-	1	1159	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	300					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493																																							uc002zlp.1		NA																	0				ovary(1)	1						c.(898-900)GAC>GAT		T-complex protein 1							194.0	173.0	180.0					22																	17072541		2203	4300	6503	SO:0001819	synonymous_variant	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072541G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.900C>T	22.37:g.17072541G>A							p.D300D	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1160	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	300					A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	37	c.900C>T	CCDS13738.1																																																																																				0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			65	157	0	0	0	0.01441	0	65	157				
GAB4	128954	broad.mit.edu	37	22	17472947	17472947	+	Silent	SNP	G	G	A	rs556110776		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:17472947G>A	ENST00000400588.1	-	2	401	c.294C>T	c.(292-294)ctC>ctT	p.L98L	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	98	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCTGCTCACAGAGGTTCAGGT	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22394	0.0		0.0	False		,,,				2504	0.0						uc002zlw.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(292-294)CTC>CTT		GRB2-associated binding protein family, member							218.0	229.0	225.0					22																	17472947		2196	4299	6495	SO:0001819	synonymous_variant	128954							g.chr22:17472947G>A	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.294C>T	22.37:g.17472947G>A						GAB4_uc010gqs.1_Silent_p.L98L	p.L98L	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			2	402	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	98			PH.			Silent	SNP	ENST00000400588.1	37	c.294C>T	CCDS42976.1																																																																																				0.488	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		86	166	0	0	0	0.01441	0	86	166				
HPS4	89781	broad.mit.edu	37	22	26861450	26861450	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:26861450G>A	ENST00000398145.2	-	10	1390	c.774C>T	c.(772-774)ctC>ctT	p.L258L	HPS4_ENST00000398141.1_Silent_p.L271L|HPS4_ENST00000336873.5_Silent_p.L258L|HPS4_ENST00000402105.3_Silent_p.L253L|HPS4_ENST00000493455.2_5'Flank	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	258					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GGAACTCGTGGAGACTAATGG	0.488									Hermansky-Pudlak syndrome																														uc003acl.2		NA																	0					0						c.(772-774)CTC>CTT		light ear protein isoform a							131.0	115.0	120.0					22																	26861450		2203	4300	6503	SO:0001819	synonymous_variant	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26861450G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.774C>T	22.37:g.26861450G>A						HPS4_uc003aci.2_Silent_p.L253L|HPS4_uc003acj.2_Silent_p.L122L|HPS4_uc003ack.2_Silent_p.L49L|HPS4_uc003acn.2_Silent_p.L104L|HPS4_uc010gvd.1_Silent_p.L276L|HPS4_uc003ach.2_5'UTR	p.L258L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			10	1433	-			258					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	ENST00000398145.2	37	c.774C>T	CCDS13835.1																																																																																				0.488	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		12	52	0	0	0	0.013537	0	12	52				
TRIOBP	11078	broad.mit.edu	37	22	38120013	38120013	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:38120013C>T	ENST00000406386.3	+	7	1705	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	484					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGTGCCCAGCGGGACAATCC	0.602																																							uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(1450-1452)CGG>TGG		TRIO and F-actin binding protein isoform 6							52.0	50.0	51.0					22																	38120013		1897	4072	5969	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120013C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1450C>T	22.37:g.38120013C>T	ENSP00000384312:p.Arg484Trp					TRIOBP_uc003atu.2_Missense_Mutation_p.R312W|TRIOBP_uc003atq.1_Missense_Mutation_p.R484W|TRIOBP_uc003ats.1_Missense_Mutation_p.R312W	p.R484W	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	1721	+	Melanoma(58;0.0574)		484					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1450C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	10.82	1.458068	0.26161	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22336	1.96	2.92	-1.03	0.10102	.	.	.	.	.	T	0.19644	0.0472	L	0.44542	1.39	0.09310	N	1	D	0.69078	0.997	P	0.50378	0.639	T	0.13764	-1.0497	9	0.72032	D	0.01	.	1.4996	0.02474	0.3799:0.3262:0.1735:0.1204	.	484	Q9H2D6	TARA_HUMAN	W	484	ENSP00000384312:R484W	ENSP00000384312:R484W	R	+	1	2	TRIOBP	36449959	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.621000	0.02044	-0.231000	0.09825	0.289000	0.19496	CGG		0.602	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			30	110	0	0	0	0.004878	0	30	110				
PICK1	9463	broad.mit.edu	37	22	38466861	38466861	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:38466861G>T	ENST00000404072.3	+	7	803	c.456G>T	c.(454-456)agG>agT	p.R152S	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Missense_Mutation_p.R152S|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	152	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TTGTCAAGAGGCTAGAGGAGC	0.627																																							uc003auq.2		NA																	0					0						c.(454-456)AGG>AGT		protein interacting with C kinase 1							44.0	43.0	43.0					22																	38466861		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38466861G>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.456G>T	22.37:g.38466861G>T	ENSP00000385205:p.Arg152Ser					PICK1_uc003aur.2_Missense_Mutation_p.R152S|PICK1_uc003aus.2_Missense_Mutation_p.R152S|PICK1_uc003aut.2_Missense_Mutation_p.R152S	p.R152S	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			7	846	+	Melanoma(58;0.045)		152			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.456G>T	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.705828	0.68615	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.79454	-1.27;-1.27;-1.27	5.24	0.312	0.15837	Arfaptin-like (3);	0.041393	0.85682	D	0.000000	T	0.73892	0.3645	M	0.71581	2.175	0.54753	D	0.999986	B	0.19583	0.037	B	0.28638	0.092	T	0.67703	-0.5602	10	0.87932	D	0	-33.0164	8.4831	0.33054	0.5501:0.0:0.4499:0.0	.	152	Q9NRD5	PICK1_HUMAN	S	152	ENSP00000385205:R152S;ENSP00000398141:R152S;ENSP00000349465:R152S	ENSP00000349465:R152S	R	+	3	2	PICK1	36796807	0.998000	0.40836	0.996000	0.52242	0.896000	0.52359	0.498000	0.22530	-0.045000	0.13468	0.655000	0.94253	AGG		0.627	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		10	32	1	0	0.000673444	0.008291	0.000736759	10	32				
PNPLA3	80339	broad.mit.edu	37	22	44322984	44322984	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr22:44322984C>T	ENST00000216180.3	+	2	530	c.357C>T	c.(355-357)acC>acT	p.T119T	PNPLA3_ENST00000423180.2_Silent_p.T115T|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	119	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TCTCTCTTACCAGAGTGTCTG	0.493																																							uc003bei.1		NA																	0					0						c.(355-357)ACC>ACT		patatin-like phospholipase domain containing 3							85.0	76.0	79.0					22																	44322984		2203	4300	6503	SO:0001819	synonymous_variant	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44322984C>T		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.357C>T	22.37:g.44322984C>T						PNPLA3_uc010gzm.1_RNA	p.T119T	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			2	530	+		Ovarian(80;0.024)|all_neural(38;0.0416)	119			Lumenal (Potential).|Patatin.		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	c.357C>T	CCDS14054.1																																																																																				0.493	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		20	46	0	0	0	0.014323	0	20	46				
FANCD2	2177	broad.mit.edu	37	3	10136010	10136010	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:10136010G>T	ENST00000419585.1	+	40	4087	c.3926G>T	c.(3925-3927)tGt>tTt	p.C1309F	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000287647.3_Missense_Mutation_p.C1309F|FANCD2_ENST00000383807.1_Missense_Mutation_p.C1309F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1309					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CTGAAGCAATGTATGCCGCTC	0.458			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														uc003buw.2		NA	yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(3925-3927)TGT>TTT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							254.0	267.0	263.0					3																	10136010		2203	4300	6503	SO:0001583	missense	2177	FanconAnemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10136010G>T	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.3926G>T	3.37:g.10136010G>T	ENSP00000398754:p.Cys1309Phe					FANCD2_uc003bux.1_Missense_Mutation_p.C1309F|FANCD2_uc003buy.1_Missense_Mutation_p.C1309F|FANCD2_uc010hcw.1_RNA|C3orf24_uc003buz.2_Intron	p.C1309F	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	40	4004	+			1309					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.3926G>T	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.565403	0.86439	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.50813	0.73;0.73;0.73	5.8	5.8	0.92144	.	0.099487	0.64402	D	0.000002	T	0.65533	0.2700	M	0.63428	1.95	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63597	0.916;0.916	T	0.66200	-0.5983	10	0.66056	D	0.02	.	17.6122	0.88056	0.0:0.0:1.0:0.0	.	1309;1309	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	F	1309	ENSP00000287647:C1309F;ENSP00000373318:C1309F;ENSP00000398754:C1309F	ENSP00000287647:C1309F	C	+	2	0	FANCD2	10111010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.156000	0.77453	2.758000	0.94735	0.644000	0.83932	TGT		0.458	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1			111	153	1	0	3.21225e-43	0.01441	4.15321e-43	111	153				
OXNAD1	92106	broad.mit.edu	37	3	16336367	16336367	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:16336367G>T	ENST00000285083.5	+	6	760	c.295G>T	c.(295-297)Gat>Tat	p.D99Y	OXNAD1_ENST00000605932.1_Missense_Mutation_p.D99Y|OXNAD1_ENST00000544043.1_Missense_Mutation_p.D117Y|OXNAD1_ENST00000606098.1_Missense_Mutation_p.D99Y|OXNAD1_ENST00000435829.2_Missense_Mutation_p.D117Y	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	99	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TTTTAGGGTTGATTTCTTTAT	0.338																																							uc003caw.2		NA																	0				skin(1)	1						c.(295-297)GAT>TAT		oxidoreductase NAD-binding domain containing 1							128.0	131.0	130.0					3																	16336367		2203	4300	6503	SO:0001583	missense	92106						oxidoreductase activity	g.chr3:16336367G>T	AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.295G>T	3.37:g.16336367G>T	ENSP00000285083:p.Asp99Tyr					OXNAD1_uc010her.1_RNA|OXNAD1_uc003cax.2_Missense_Mutation_p.D99Y|OXNAD1_uc011awb.1_Missense_Mutation_p.D117Y	p.D99Y	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN			6	752	+			99			FAD-binding FR-type.		Q2HYC7|Q59FA4	Missense_Mutation	SNP	ENST00000285083.5	37	c.295G>T	CCDS2630.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014012	0.75161	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.13538	2.58;2.58;2.58	5.93	5.06	0.68205	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.52503	-0.8567	10	0.87932	D	0	-4.492	14.7928	0.69854	0.0688:0.0:0.9312:0.0	.	117;99	F5H620;Q96HP4	.;OXND1_HUMAN	Y	99;99;117	ENSP00000285083:D99Y;ENSP00000389872:D99Y;ENSP00000437967:D117Y	ENSP00000285083:D99Y	D	+	1	0	OXNAD1	16311371	1.000000	0.71417	0.997000	0.53966	0.852000	0.48524	6.267000	0.72546	1.515000	0.48885	0.655000	0.94253	GAT		0.338	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252109.1	NM_138381		19	37	1	0	5.03518e-11	0.007413	6.0234e-11	19	37				
THRB	7068	broad.mit.edu	37	3	24174828	24174828	+	Silent	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:24174828T>C	ENST00000356447.4	-	8	1148	c.864A>G	c.(862-864)aaA>aaG	p.K288K	THRB_ENST00000416420.1_Silent_p.K288K|THRB_ENST00000280696.5_Silent_p.K303K|THRB_ENST00000396671.2_Silent_p.K288K	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	288	Interaction with NR2F6.|Ligand-binding.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TAGGCAACTTTTTGGCAAAAT	0.383																																					Melanoma(21;896 1043 15021 37958)	Melanoma(21;896 1043 15021 37958)	uc003ccx.3		NA																	0				skin(2)|pancreas(1)	3						c.(862-864)AAA>AAG		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						115.0	107.0	109.0					3																	24174828		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24174828T>C		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.864A>G	3.37:g.24174828T>C						THRB_uc010hfe.2_Silent_p.K288K|THRB_uc003ccy.3_Silent_p.K288K|THRB_uc003ccz.3_Silent_p.K283K	p.K288K	NM_001128176	NP_001121648	P10828	THB_HUMAN			9	1213	-			288			Ligand-binding.|Interaction with NR2F6.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.864A>G	CCDS2641.1																																																																																				0.383	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		4	28	0	0	0	0.009096	0	4	28				
ZNF860	344787	broad.mit.edu	37	3	32031784	32031784	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:32031784A>G	ENST00000360311.4	+	2	1762	c.1213A>G	c.(1213-1215)Aaa>Gaa	p.K405E		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	405					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)|lung(4)|ovary(1)	8						TGATTGTCACAAAGTCTTCAG	0.363																																							uc011axg.1		NA																	0				ovary(1)	1						c.(1213-1215)AAA>GAA		zinc finger protein 860							58.0	51.0	53.0					3																	32031784		692	1591	2283	SO:0001583	missense	344787				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:32031784A>G	AK294003	CCDS46784.1	3p24.1	2013-01-08			ENSG00000197385	ENSG00000197385		"""Zinc fingers, C2H2-type"", ""-"""	34513	protein-coding gene	gene with protein product							Standard	NM_001137674		Approved		uc011axg.2	A6NHJ4	OTTHUMG00000155838	ENST00000360311.4:c.1213A>G	3.37:g.32031784A>G	ENSP00000373274:p.Lys405Glu						p.K405E	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN			2	1762	+			405			C2H2-type 7.		B4DFA4	Missense_Mutation	SNP	ENST00000360311.4	37	c.1213A>G	CCDS46784.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.440953	0.43326	.	.	ENSG00000197385	ENST00000360311	T	0.60040	0.22	0.336	0.336	0.15958	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.52581	0.1743	M	0.79258	2.445	0.21355	N	0.999717	B	0.27765	0.188	B	0.27076	0.076	T	0.47142	-0.9140	8	.	.	.	.	4.9796	0.14158	0.9998:0.0:2.0E-4:0.0	.	405	A6NHJ4	ZN860_HUMAN	E	405	ENSP00000373274:K405E	.	K	+	1	0	ZNF860	32006788	0.829000	0.29322	0.050000	0.19076	0.048000	0.14542	3.970000	0.56824	0.327000	0.23409	0.317000	0.21355	AAA		0.363	ZNF860-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341957.1			5	32	0	0	0	0.001984	0	5	32				
MLH1	4292	broad.mit.edu	37	3	37053345	37053345	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:37053345G>A	ENST00000231790.2	+	7	796	c.580G>A	c.(580-582)Gtt>Att	p.V194I	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.V96I|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000536378.1_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	194					ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TAGTTTCTCAGTTAAAAAAGT	0.353		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														uc003cgl.2		1	yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	D|Mis|N|F|S	E.coli MutL homolog gene			"""E, O"""		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		1	Whole gene deletion(1)	p.0?(1)	ovary(1)	large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77						c.(580-582)GTT>ATT	MMR	MutL protein homolog 1							197.0	211.0	206.0					3																	37053345		2203	4300	6503	SO:0001583	missense	4292	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	g.chr3:37053345G>A	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.580G>A	3.37:g.37053345G>A	ENSP00000231790:p.Val194Ile					MLH1_uc011aye.1_5'UTR|MLH1_uc011ayb.1_5'UTR|MLH1_uc010hge.2_Missense_Mutation_p.V194I|MLH1_uc003cgn.3_5'UTR|MLH1_uc011ayc.1_Missense_Mutation_p.V96I|MLH1_uc011ayd.1_5'UTR|MLH1_uc003cgo.2_5'UTR|MLH1_uc010hgg.1_5'Flank|MLH1_uc010hgh.1_5'Flank|MLH1_uc010hgi.1_5'Flank|MLH1_uc010hgj.1_5'Flank|MLH1_uc010hgk.2_5'Flank|MLH1_uc010hgl.1_5'Flank	p.V194I	NM_000249	NP_000240	P40692	MLH1_HUMAN			7	640	+			194					B4DI13|B4DQ11|E9PCU2	Missense_Mutation	SNP	ENST00000231790.2	37	c.580G>A	CCDS2663.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166556	0.57476	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000435176	D;D	0.89939	-2.59;-2.59	5.92	5.92	0.95590	DNA mismatch repair protein, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.86711	0.5998	L	0.49571	1.57	0.80722	D	1	B;B;B	0.34015	0.25;0.435;0.129	B;B;B	0.29267	0.1;0.099;0.041	D	0.84405	0.0562	10	0.40728	T	0.16	-20.9725	20.3248	0.98698	0.0:0.0:1.0:0.0	.	96;194;194	E9PCU2;Q53GX1;P40692	.;.;MLH1_HUMAN	I	194;160;160;58;96	ENSP00000231790:V194I;ENSP00000402564:V96I	ENSP00000231790:V194I	V	+	1	0	MLH1	37028349	1.000000	0.71417	0.999000	0.59377	0.771000	0.43674	6.849000	0.75414	2.818000	0.97014	0.655000	0.94253	GTT		0.353	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253337.2	NM_000249		27	121	0	0	0	0.008361	0	27	121				
DOCK3	1795	broad.mit.edu	37	3	51198034	51198034	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:51198034A>G	ENST00000266037.9	+	12	961	c.938A>G	c.(937-939)tAc>tGc	p.Y313C		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	313					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACCTGCACTACAGGCGACCA	0.493																																							uc011bds.1		NA																	0					0						c.(937-939)TAC>TGC		dedicator of cytokinesis 3							70.0	71.0	71.0					3																	51198034		2038	4196	6234	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51198034A>G	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.938A>G	3.37:g.51198034A>G	ENSP00000266037:p.Tyr313Cys						p.Y313C	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	12	961	+			313					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.938A>G	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894918	0.91962	.	.	ENSG00000088538	ENST00000266037	T	0.05081	3.5	5.8	5.8	0.92144	.	0.057697	0.64402	D	0.000001	T	0.23451	0.0567	M	0.83012	2.62	0.80722	D	1	D	0.62365	0.991	P	0.57548	0.823	T	0.01121	-1.1445	10	0.40728	T	0.16	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	313	Q8IZD9	DOCK3_HUMAN	C	313	ENSP00000266037:Y313C	ENSP00000266037:Y313C	Y	+	2	0	DOCK3	51173074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.245000	0.95431	2.227000	0.72691	0.460000	0.39030	TAC		0.493	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		9	10	0	0	0	0.004482	0	9	10				
PTPRG	5793	broad.mit.edu	37	3	62240846	62240846	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:62240846G>A	ENST00000474889.1	+	16	2892	c.2515G>A	c.(2515-2517)Gag>Aag	p.E839K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E810K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	839					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACACATCGGTGAGCTCTATTC	0.373																																							uc003dlb.2		NA																	0				ovary(5)|lung(2)	7						c.(2515-2517)GAG>AAG		protein tyrosine phosphatase, receptor type, G							142.0	138.0	139.0					3																	62240846		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62240846G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2515G>A	3.37:g.62240846G>A	ENSP00000418112:p.Glu839Lys					PTPRG_uc003dlc.2_Missense_Mutation_p.E810K|PTPRG_uc011bfi.1_Missense_Mutation_p.E85K	p.E839K	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	16	3234	+			839			Cytoplasmic (Potential).		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2515G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	34	5.321883	0.95682	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.10960	2.82;2.82	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.29190	0.0726	M	0.61703	1.905	0.80722	D	1	P;B;D	0.59357	0.828;0.372;0.985	B;B;P	0.58721	0.277;0.133;0.844	T	0.00431	-1.1743	10	0.66056	D	0.02	.	19.5255	0.95203	0.0:0.0:1.0:0.0	.	85;810;839	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	K	839;810	ENSP00000418112:E839K;ENSP00000295874:E810K	ENSP00000295874:E810K	E	+	1	0	PTPRG	62215886	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.372000	0.97165	2.624000	0.88883	0.650000	0.86243	GAG		0.373	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		24	39	0	0	0	0.008361	0	24	39				
PROS1	5627	broad.mit.edu	37	3	93615521	93615521	+	Silent	SNP	G	G	A	rs554787241		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:93615521G>A	ENST00000394236.3	-	9	1180	c.864C>T	c.(862-864)tgC>tgT	p.C288C	PROS1_ENST00000407433.1_Silent_p.C157C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	288					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCAAGGGAAGGCACACTGAAA	0.358													G|||	1	0.000199681	0.0	0.0	5008	,	,		16795	0.0		0.0	False		,,,				2504	0.001						uc003drb.3		NA																	0				large_intestine(1)	1	GRCh37	CM051207	PROS1	M		c.(862-864)TGC>TGT		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						73.0	79.0	77.0					3																	93615521		2203	4299	6502	SO:0001819	synonymous_variant	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93615521G>A		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.864C>T	3.37:g.93615521G>A						PROS1_uc010hoo.2_Silent_p.C157C|PROS1_uc003dqz.3_Silent_p.C157C	p.C288C	NM_000313	NP_000304	P07225	PROS_HUMAN			9	1205	-			288					A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Silent	SNP	ENST00000394236.3	37	c.864C>T	CCDS2923.1																																																																																				0.358	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		40	97	0	0	0	0.00623	0	40	97				
IGSF11	152404	broad.mit.edu	37	3	118621435	118621435	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:118621435T>A	ENST00000393775.2	-	7	1533	c.1228A>T	c.(1228-1230)Aca>Tca	p.T410S	IGSF11_ENST00000441144.2_Missense_Mutation_p.T385S|IGSF11_ENST00000425327.2_Missense_Mutation_p.T409S|IGSF11_ENST00000491903.1_Missense_Mutation_p.T382S|IGSF11_ENST00000354673.2_Missense_Mutation_p.T409S|IGSF11_ENST00000489689.1_Missense_Mutation_p.T386S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	410					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTTCCAGTGTTGCGTGGCTG	0.527																																							uc003ebw.2		NA																	0					0						c.(1228-1230)ACA>TCA		immunoglobulin superfamily, member 11 isoform b							145.0	123.0	130.0					3																	118621435		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118621435T>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.1228A>T	3.37:g.118621435T>A	ENSP00000377370:p.Thr410Ser					IGSF11_uc011biv.1_Missense_Mutation_p.T382S|IGSF11_uc003ebx.2_Missense_Mutation_p.T386S|IGSF11_uc003eby.2_Missense_Mutation_p.T409S|IGSF11_uc003ebz.2_Missense_Mutation_p.T385S|IGSF11_uc010hqs.2_Missense_Mutation_p.T409S	p.T410S	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			7	1475	-			410			Cytoplasmic (Potential).		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.1228A>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657190	0.29425	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.86230	-1.13;-1.35;-2.09;-1.13;-2.03;-1.99	5.03	1.42	0.22433	.	0.144057	0.64402	D	0.000006	T	0.79633	0.4479	L	0.39898	1.24	0.47341	D	0.999395	P;P;P;P;P	0.44521	0.748;0.837;0.668;0.748;0.748	B;B;B;B;B	0.41374	0.193;0.355;0.355;0.193;0.193	T	0.72994	-0.4122	10	0.42905	T	0.14	.	8.0604	0.30629	0.0:0.2359:0.0:0.7641	.	382;385;409;386;410	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	S	409;410;386;409;385;382	ENSP00000406092:T409S;ENSP00000377370:T410S;ENSP00000420486:T386S;ENSP00000346700:T409S;ENSP00000401240:T385S;ENSP00000417413:T382S	ENSP00000346700:T409S	T	-	1	0	IGSF11	120104125	0.996000	0.38824	0.001000	0.08648	0.151000	0.21798	2.417000	0.44653	0.106000	0.17784	0.533000	0.62120	ACA		0.527	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			38	70	0	0	0	0.00623	0	38	70				
A4GNT	51146	broad.mit.edu	37	3	137843425	137843425	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:137843425C>G	ENST00000236709.3	-	3	905	c.704G>C	c.(703-705)tGg>tCg	p.W235S		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	235					carbohydrate metabolic process (GO:0005975)|glycoprotein biosynthetic process (GO:0009101)|negative regulation of epithelial cell proliferation (GO:0050680)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylglucosaminyltransferase activity (GO:0008375)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAGTTTACACCATACCCTCAA	0.463																																							uc003ers.2		NA																	0				central_nervous_system(1)	1						c.(703-705)TGG>TCG		alpha-1,4-N-acetylglucosaminyltransferase							81.0	87.0	85.0					3																	137843425		2203	4300	6503	SO:0001583	missense	51146				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:137843425C>G	AF141315	CCDS3097.1	3p14.3	2010-12-14			ENSG00000118017	ENSG00000118017			17968	protein-coding gene	gene with protein product						10430883	Standard	NM_016161		Approved	alpha4GnT	uc003ers.2	Q9UNA3	OTTHUMG00000159820	ENST00000236709.3:c.704G>C	3.37:g.137843425C>G	ENSP00000236709:p.Trp235Ser						p.W235S	NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN			3	906	-			235			Lumenal (Potential).		Q0VDK1|Q0VDK2	Missense_Mutation	SNP	ENST00000236709.3	37	c.704G>C	CCDS3097.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392991	0.25118	.	.	ENSG00000118017	ENST00000236709	T	0.80653	-1.4	5.21	4.3	0.51218	Alpha 1,4-glycosyltransferase domain (1);	0.351548	0.26605	N	0.023449	T	0.75679	0.3882	M	0.69358	2.11	0.49389	D	0.999786	B	0.16166	0.016	B	0.20384	0.029	T	0.69639	-0.5091	10	0.25106	T	0.35	-23.8674	9.1329	0.36857	0.2686:0.6159:0.1155:0.0	.	235	Q9UNA3	A4GCT_HUMAN	S	235	ENSP00000236709:W235S	ENSP00000236709:W235S	W	-	2	0	A4GNT	139326115	1.000000	0.71417	0.988000	0.46212	0.897000	0.52465	2.716000	0.47219	2.419000	0.82065	0.563000	0.77884	TGG		0.463	A4GNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357557.1	NM_016161		24	56	0	0	0	0.014323	0	24	56				
PRR23C	389152	broad.mit.edu	37	3	138762903	138762903	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:138762903C>T	ENST00000413199.1	-	1	831	c.560G>A	c.(559-561)aGc>aAc	p.S187N	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.S187N	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	187										breast(2)|lung(7)|skin(2)	11						CCGGTAGGGGCTGAACATACT	0.652																																							uc011bmt.1		NA																	0				skin(1)	1						c.(559-561)AGC>AAC		proline rich 23C							25.0	31.0	30.0					3																	138762903		692	1591	2283	SO:0001583	missense	389152							g.chr3:138762903C>T		CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.560G>A	3.37:g.138762903C>T	ENSP00000396648:p.Ser187Asn						p.S187N	NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN			1	832	-			187						Missense_Mutation	SNP	ENST00000413199.1	37	c.560G>A	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	C	5.640	0.302741	0.10678	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.13	1.24	0.21308	.	.	.	.	.	T	0.29288	0.0729	L	0.44542	1.39	0.09310	N	1	B	0.27286	0.174	B	0.30316	0.114	T	0.27468	-1.0073	8	0.14252	T	0.57	.	4.4488	0.11611	0.0:0.6348:0.2317:0.1335	.	187	Q6ZRP0	PR23C_HUMAN	N	187	.	ENSP00000396648:S187N	S	-	2	0	PRR23C	140245593	0.001000	0.12720	0.014000	0.15608	0.083000	0.17756	-0.050000	0.11904	0.336000	0.23639	0.455000	0.32223	AGC		0.652	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361502.1	NM_001134657		7	16	0	0	0	0.001984	0	7	16				
RTP1	132112	broad.mit.edu	37	3	186917551	186917551	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr3:186917551G>T	ENST00000312295.4	+	2	515	c.485G>T	c.(484-486)cGc>cTc	p.R162L	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	162					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACCAGCCTGCGCGAGCAGTGC	0.677																																							uc003frg.2		NA																	0				ovary(2)|breast(1)	3						c.(484-486)CGC>CTC		receptor transporting protein 1							29.0	28.0	28.0					3																	186917551		2203	4299	6502	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917551G>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.485G>T	3.37:g.186917551G>T	ENSP00000311712:p.Arg162Leu						p.R162L	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	515	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		162			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.485G>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	16.72	3.202403	0.58234	.	.	ENSG00000175077	ENST00000312295	T	0.22134	1.97	5.7	5.7	0.88788	.	0.277274	0.40144	N	0.001165	T	0.12050	0.0293	N	0.05534	-0.03	0.34717	D	0.728331	P	0.36438	0.553	B	0.40410	0.328	T	0.05305	-1.0893	10	0.02654	T	1	.	15.3379	0.74273	0.0:0.0:1.0:0.0	.	162	P59025	RTP1_HUMAN	L	162	ENSP00000311712:R162L	ENSP00000311712:R162L	R	+	2	0	RTP1	188400245	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	2.405000	0.44548	2.711000	0.92665	0.561000	0.74099	CGC		0.677	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		25	12	1	0	6.07407e-21	0.007291	7.69784e-21	25	12				
PDE6B	5158	broad.mit.edu	37	4	654380	654380	+	Missense_Mutation	SNP	G	G	A	rs144664551		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:654380G>A	ENST00000496514.1	+	12	1613	c.1592G>A	c.(1591-1593)cGa>cAa	p.R531Q	PDE6B_ENST00000429163.2_Missense_Mutation_p.R252Q|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.R531Q			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	531					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GGCGTGGTCCGAAAGTTCCAG	0.587													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0				GBM(71;463 1194 9848 25922 46834)	GBM(71;463 1194 9848 25922 46834)	uc003gap.2		NA																	0					0						c.(1591-1593)CGA>CAA		phosphodiesterase 6B isoform 1							64.0	57.0	60.0					4																	654380		2202	4300	6502	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:654380G>A	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1592G>A	4.37:g.654380G>A	ENSP00000420295:p.Arg531Gln					PDE6B_uc003gao.3_Missense_Mutation_p.R531Q|PDE6B_uc011buy.1_Missense_Mutation_p.R252Q	p.R531Q	NM_000283	NP_000274	P35913	PDE6B_HUMAN			12	1645	+			531					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.1592G>A	CCDS33932.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	7.903	0.734882	0.15574	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.75260	-0.92;-0.92;-0.92	4.25	3.23	0.37069	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.059944	0.64402	D	0.000005	T	0.40040	0.1101	N	0.01576	-0.805	0.32581	N	0.528499	B;B	0.27656	0.116;0.184	B;B	0.25987	0.03;0.065	T	0.42783	-0.9431	10	0.23891	T	0.37	.	3.7741	0.08653	0.3428:0.0:0.6572:0.0	.	531;531	P35913;P35913-2	PDE6B_HUMAN;.	Q	531;531;252	ENSP00000255622:R531Q;ENSP00000420295:R531Q;ENSP00000406334:R252Q	ENSP00000255622:R531Q	R	+	2	0	PDE6B	644380	1.000000	0.71417	0.972000	0.41901	0.636000	0.38137	4.993000	0.63895	1.917000	0.55516	0.297000	0.19635	CGA		0.587	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		5	26	0	0	0	0.001984	0	5	26				
BOD1L1	259282	broad.mit.edu	37	4	13603329	13603329	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:13603329G>C	ENST00000040738.5	-	10	5330	c.5195C>G	c.(5194-5196)gCa>gGa	p.A1732G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1732						nucleus (GO:0005634)	DNA binding (GO:0003677)										TCTGCCTTCTGCTCCTGTACA	0.502																																							uc003gmz.1		NA																	0				ovary(5)|breast(1)	6						c.(5194-5196)GCA>GGA		biorientation of chromosomes in cell division							152.0	145.0	147.0					4																	13603329		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603329G>C	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5195C>G	4.37:g.13603329G>C	ENSP00000040738:p.Ala1732Gly					BOD1L_uc010idr.1_Missense_Mutation_p.A1069G	p.A1732G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			10	5312	-			1732					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5195C>G	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	14.75	2.630092	0.46944	.	.	ENSG00000038219	ENST00000040738	T	0.09538	2.97	4.81	3.94	0.45596	.	0.321554	0.24497	N	0.038011	T	0.08358	0.0208	L	0.27053	0.805	0.28112	N	0.930971	P	0.37781	0.608	B	0.32980	0.156	T	0.14839	-1.0458	10	0.72032	D	0.01	-4.7721	13.8986	0.63787	0.0789:0.0:0.9211:0.0	.	1732	Q8NFC6	BOD1L_HUMAN	G	1732	ENSP00000040738:A1732G	ENSP00000040738:A1732G	A	-	2	0	BOD1L	13212427	0.997000	0.39634	0.229000	0.23960	0.854000	0.48673	4.692000	0.61746	2.364000	0.80123	0.561000	0.74099	GCA		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		26	119	0	0	0	0.00333	0	26	119				
ANAPC4	29945	broad.mit.edu	37	4	25394003	25394003	+	Missense_Mutation	SNP	G	G	A	rs371711389		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:25394003G>A	ENST00000315368.3	+	10	891	c.749G>A	c.(748-750)cGg>cAg	p.R250Q	ANAPC4_ENST00000510092.1_Missense_Mutation_p.R250Q	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GAAGTAACTCGGATGGCCAGA	0.343																																							uc003gro.2		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)|skin(1)	5						c.(748-750)CGG>CAG		anaphase-promoting complex subunit 4		G	GLN/ARG	0,4404		0,0,2202	141.0	135.0	137.0		749	5.7	1.0	4		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANAPC4	NM_013367.2	43	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	250/809	25394003	1,13003	2202	4300	6502	SO:0001583	missense	29945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr4:25394003G>A	AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.749G>A	4.37:g.25394003G>A	ENSP00000318775:p.Arg250Gln					ANAPC4_uc003grp.2_Missense_Mutation_p.R135Q|ANAPC4_uc010iet.1_Missense_Mutation_p.R59Q|ANAPC4_uc010ieu.1_Missense_Mutation_p.R59Q	p.R250Q	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN			10	878	+		Breast(46;0.0503)	250					A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Missense_Mutation	SNP	ENST00000315368.3	37	c.749G>A	CCDS3434.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714236	0.89112	0.0	1.16E-4	ENSG00000053900	ENST00000315368;ENST00000510092	T;T	0.30182	1.54;1.54	5.72	5.72	0.89469	Anaphase-promoting complex subunit 4 long domain (1);	0.048843	0.85682	D	0.000000	T	0.35393	0.0930	L	0.34521	1.04	0.45005	D	0.998023	D;D;D	0.67145	0.985;0.985;0.996	B;P;P	0.52031	0.339;0.671;0.688	T	0.02037	-1.1225	10	0.13470	T	0.59	-18.2513	19.8753	0.96867	0.0:0.0:1.0:0.0	.	250;250;250	Q9UJX5-2;E9PCR4;Q9UJX5	.;.;APC4_HUMAN	Q	250	ENSP00000318775:R250Q;ENSP00000426654:R250Q	ENSP00000318775:R250Q	R	+	2	0	ANAPC4	25003101	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.450000	0.80656	2.711000	0.92665	0.655000	0.94253	CGG		0.343	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367		11	52	0	0	0	0.001855	0	11	52				
PCDH7	5099	broad.mit.edu	37	4	30725930	30725930	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:30725930G>A	ENST00000361762.2	+	1	3894	c.2886G>A	c.(2884-2886)caG>caA	p.Q962Q	PCDH7_ENST00000543491.1_Silent_p.Q962Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	962					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAAATGGACAGAGGTATGATA	0.473																																							uc003gsk.1		NA																	0		p.P962P(1)		upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2884-2886)CAG>CAA		protocadherin 7 isoform a precursor							96.0	99.0	98.0					4																	30725930		2203	4300	6503	SO:0001819	synonymous_variant	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725930G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2886G>A	4.37:g.30725930G>A						PCDH7_uc011bxw.1_Silent_p.Q915Q|PCDH7_uc011bxx.1_Silent_p.Q962Q	p.Q962Q	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3894	+			962			Cytoplasmic (Potential).		O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	c.2886G>A	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	G	1.755	-0.488285	0.04352	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.02	2.18	0.27775	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	4.9661	0.14091	0.3147:0.0:0.5511:0.1342	.	.	.	.	K	652	.	.	E	+	1	0	PCDH7	30335028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.587000	0.46128	0.646000	0.30693	0.561000	0.74099	GAG		0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		14	74	0	0	0	0.00499	0	14	74				
ATP10D	57205	broad.mit.edu	37	4	47514737	47514737	+	Missense_Mutation	SNP	C	C	G	rs377416576		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:47514737C>G	ENST00000273859.3	+	2	449	c.180C>G	c.(178-180)ttC>ttG	p.F60L	ATP10D_ENST00000504445.1_Missense_Mutation_p.F60L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	60					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TCCAGCCCTTCAAGGATGAGT	0.463																																							uc003gxk.1		NA																	0				ovary(2)|pancreas(1)	3						c.(178-180)TTC>TTG		ATPase, class V, type 10D							87.0	84.0	85.0					4																	47514737		2203	4300	6503	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47514737C>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.180C>G	4.37:g.47514737C>G	ENSP00000273859:p.Phe60Leu					ATP10D_uc003gxj.3_Missense_Mutation_p.F60L	p.F60L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			2	344	+			60			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.180C>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	C	4.675	0.125524	0.08931	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	T;T	0.75821	-0.97;-0.97	5.1	4.24	0.50183	.	0.241771	0.38217	N	0.001775	T	0.59418	0.2192	L	0.49778	1.585	0.24333	N	0.994997	B;B	0.34161	0.093;0.439	B;B	0.29942	0.029;0.109	T	0.45862	-0.9232	10	0.12430	T	0.62	-24.7531	5.7323	0.18047	0.0:0.7444:0.0:0.2556	.	60;60	Q9P241;Q6PEW3	AT10D_HUMAN;.	L	60	ENSP00000273859:F60L;ENSP00000420909:F60L	ENSP00000273859:F60L	F	+	3	2	ATP10D	47209494	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	1.514000	0.35834	2.519000	0.84933	0.557000	0.71058	TTC		0.463	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		11	50	0	0	0	0.010729	0	11	50				
SGCB	6443	broad.mit.edu	37	4	52890175	52890175	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:52890175C>A	ENST00000381431.5	-	6	1127	c.905G>T	c.(904-906)aGc>aTc	p.S302I	SGCB_ENST00000535450.1_Missense_Mutation_p.S232I	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	302	Cys-rich.				cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CATGTTCTGGCTGGTTACTTG	0.493																																							uc003gzj.2		NA																	0					0						c.(904-906)AGC>ATC		sarcoglycan, beta							120.0	102.0	108.0					4																	52890175		2203	4300	6503	SO:0001583	missense	6443				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma		g.chr4:52890175C>A	U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.905G>T	4.37:g.52890175C>A	ENSP00000370839:p.Ser302Ile					SGCB_uc011bzp.1_Missense_Mutation_p.S232I	p.S302I	NM_000232	NP_000223	Q16585	SGCB_HUMAN	GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)		6	965	-			302			Extracellular (Potential).|Cys-rich.		B7Z635|O00661	Missense_Mutation	SNP	ENST00000381431.5	37	c.905G>T	CCDS3488.1	.	.	.	.	.	.	.	.	.	.	C	8.678	0.904536	0.17760	.	.	ENSG00000163069	ENST00000381431;ENST00000535450	D;D	0.94793	-3.52;-3.52	5.54	4.7	0.59300	.	0.761015	0.13652	N	0.372187	D	0.89884	0.6844	N	0.22421	0.69	0.24258	N	0.995292	B;B	0.22909	0.077;0.022	B;B	0.22152	0.038;0.038	T	0.81079	-0.1095	10	0.38643	T	0.18	-37.3375	13.6468	0.62286	0.0:0.9254:0.0:0.0746	.	232;302	B7Z635;Q16585	.;SGCB_HUMAN	I	302;232	ENSP00000370839:S302I;ENSP00000441199:S232I	ENSP00000370839:S302I	S	-	2	0	SGCB	52584932	0.976000	0.34144	0.771000	0.31576	0.477000	0.33069	2.405000	0.44548	1.463000	0.47967	0.591000	0.81541	AGC		0.493	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250596.2			18	34	1	0	1.56452e-12	0.007413	1.88924e-12	18	34				
LPHN3	23284	broad.mit.edu	37	4	62758580	62758580	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:62758580G>A	ENST00000514591.1	+	9	1812	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	LPHN3_ENST00000508946.1_Missense_Mutation_p.E495K|LPHN3_ENST00000514996.1_Missense_Mutation_p.E495K|LPHN3_ENST00000507164.1_Missense_Mutation_p.E563K|LPHN3_ENST00000508693.1_Missense_Mutation_p.E563K|LPHN3_ENST00000506746.1_Missense_Mutation_p.E563K|LPHN3_ENST00000512091.2_Missense_Mutation_p.E495K|LPHN3_ENST00000506720.1_Missense_Mutation_p.E563K|LPHN3_ENST00000509896.1_Missense_Mutation_p.E563K|LPHN3_ENST00000514157.1_Missense_Mutation_p.E495K|LPHN3_ENST00000511324.1_Missense_Mutation_p.E563K|LPHN3_ENST00000545650.1_Missense_Mutation_p.E495K|LPHN3_ENST00000506700.1_Missense_Mutation_p.E495K|LPHN3_ENST00000507625.1_Missense_Mutation_p.E563K|LPHN3_ENST00000504896.1_Missense_Mutation_p.E495K			Q9HAR2	LPHN3_HUMAN	latrophilin 3	495					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCCAGCTCTCGAAGAGAGCTG	0.502																																							uc010ihh.2		NA																	0				lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1483-1485)GAA>AAA		latrophilin 3 precursor							72.0	68.0	69.0					4																	62758580		1914	4133	6047	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62758580G>A	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1483G>A	4.37:g.62758580G>A	ENSP00000422533:p.Glu495Lys					LPHN3_uc003hcq.3_Missense_Mutation_p.E495K|LPHN3_uc003hcs.1_Missense_Mutation_p.E324K	p.E495K	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			7	1656	+			495			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1483G>A	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564018	0.65651	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.69685	-0.4;-0.4;-0.41;-0.41;-0.39;-0.4;-0.41;-0.41;-0.41;-0.4;-0.4;-0.41;-0.42;-0.42;-0.41	5.83	5.83	0.93111	.	0.585977	0.17803	N	0.161488	T	0.59865	0.2225	L	0.36672	1.1	0.37646	D	0.922235	B;B	0.29805	0.059;0.257	B;B	0.19666	0.015;0.026	T	0.62831	-0.6771	10	0.62326	D	0.03	.	19.1256	0.93382	0.0:0.0:1.0:0.0	.	495;495	E9PE04;Q9HAR2-2	.;.	K	495;495;563;563;495;495;495;495;495;563;563;563;495;495;495;563;563;495	ENSP00000423388:E495K;ENSP00000422533:E495K;ENSP00000423787:E563K;ENSP00000425033:E563K;ENSP00000424120:E495K;ENSP00000439831:E495K;ENSP00000421476:E563K;ENSP00000424030:E563K;ENSP00000421372:E563K;ENSP00000425201:E495K;ENSP00000423434:E495K;ENSP00000421627:E495K;ENSP00000420931:E563K;ENSP00000425884:E563K;ENSP00000424258:E495K	ENSP00000280009:E495K	E	+	1	0	LPHN3	62441175	0.997000	0.39634	0.929000	0.37066	0.788000	0.44548	3.103000	0.50298	2.763000	0.94921	0.563000	0.77884	GAA		0.502	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			5	19	0	0	0	0.001168	0	5	19				
UGT2B7	7364	broad.mit.edu	37	4	69978250	69978250	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:69978250C>T	ENST00000305231.7	+	6	1432	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	UGT2B7_ENST00000508661.1_3'UTR|UGT2B7_ENST00000509763.1_3'UTR	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	462					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GAGCAGTCTTCTGGATTGAAT	0.423																																							uc003heg.3		NA																	0				ovary(1)|skin(1)	2						c.(1384-1386)TTC>TTT		UDP glucuronosyltransferase 2B7 precursor							124.0	124.0	124.0					4																	69978250		2203	4298	6501	SO:0001819	synonymous_variant	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69978250C>T	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1386C>T	4.37:g.69978250C>T						UGT2B7_uc010ihq.2_3'UTR	p.F462F	NM_001074	NP_001065	P16662	UD2B7_HUMAN			6	1432	+			462					B2R810|Q6GTW0	Silent	SNP	ENST00000305231.7	37	c.1386C>T	CCDS3526.1																																																																																				0.423	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		26	83	0	0	0	0.00632	0	26	83				
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs376418550	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577																																							uc003hlk.2		NA																	3	Substitution - Missense(3)		endometrium(2)|prostate(1)	lung(1)	1						c.(1378-1380)CAG>CAC		BMP-2 inducible kinase isoform a							40.0	45.0	44.0					4																	79792085		2203	4300	6503	SO:0001583	missense	55589					nucleus	ATP binding|protein serine/threonine kinase activity	g.chr4:79792085G>C	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1380G>C	4.37:g.79792085G>C	ENSP00000334836:p.Gln460His					BMP2K_uc010ijl.1_RNA|BMP2K_uc003hlj.2_Missense_Mutation_p.Q460H|BMP2K_uc003hll.2_5'Flank	p.Q460H	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN			11	1546	+			460			Gln/His-rich.		O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	ENST00000335016.5	37	c.1380G>C	CCDS47083.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.089|8.089	0.774118|0.774118	0.16051|0.16051	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502613|ENST00000502871;ENST00000335016;ENST00000264889	.|T;T	.|0.74002	.|0.79;-0.8	5.12|5.12	2.26|2.26	0.28386|0.28386	.|.	.|1.238260	.|0.06146	.|N	.|0.673324	T|T	0.57504|0.57504	0.2058|0.2058	N|N	0.15975|0.15975	0.35|0.35	0.30181|0.30181	N|N	0.800383|0.800383	.|B;B	.|0.06786	.|0.001;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.51803|0.51803	-0.8659|-0.8659	5|10	.|0.42905	.|T	.|0.14	0.0809|0.0809	5.9141|5.9141	0.19045|0.19045	0.0722:0.2493:0.5501:0.1284|0.0722:0.2493:0.5501:0.1284	.|.	.|460;460	.|Q9NSY1;Q4W5H2	.|BMP2K_HUMAN;.	P|H	153|460;460;474	.|ENSP00000421768:Q460H;ENSP00000334836:Q460H	.|ENSP00000264889:Q474H	A|Q	+|+	1|3	0|2	BMP2K|BMP2K	80011109|80011109	0.996000|0.996000	0.38824|0.38824	0.995000|0.995000	0.50966|0.50966	0.181000|0.181000	0.23173|0.23173	0.092000|0.092000	0.15066|0.15066	0.524000|0.524000	0.28502|0.28502	0.460000|0.460000	0.39030|0.39030	GCA|CAG		0.577	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_017593		6	278	0	0	0	0.00308	0	6	278				
PDLIM5	10611	broad.mit.edu	37	4	95444920	95444920	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:95444920G>T	ENST00000317968.4	+	3	278	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	PDLIM5_ENST00000437932.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000538141.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000508216.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000318007.5_Missense_Mutation_p.D48Y|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.D48Y|PDLIM5_ENST00000450793.1_Missense_Mutation_p.D48Y|PDLIM5_ENST00000514743.1_Missense_Mutation_p.D48Y	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	48	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAGAATAGGCGATGTGGTTCT	0.378																																							uc003hti.2		NA																	0				ovary(1)|skin(1)	2						c.(142-144)GAT>TAT		PDZ and LIM domain 5 isoform a							121.0	111.0	115.0					4																	95444920		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95444920G>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.142G>T	4.37:g.95444920G>T	ENSP00000321746:p.Asp48Tyr					PDLIM5_uc003htf.2_Missense_Mutation_p.D48Y|PDLIM5_uc003htg.2_Missense_Mutation_p.D48Y|PDLIM5_uc011cdx.1_Missense_Mutation_p.D48Y|PDLIM5_uc003hth.2_Missense_Mutation_p.D48Y|PDLIM5_uc003htj.2_5'UTR|PDLIM5_uc003htk.2_Missense_Mutation_p.D48Y|PDLIM5_uc011cdy.1_Intron	p.D48Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	3	293	+		Hepatocellular(203;0.114)	48			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.142G>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732727	0.89482	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.91650	0.7361	H	0.96604	3.85	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0	D	0.93571	0.6904	10	0.87932	D	0	.	20.0147	0.97475	0.0:0.0:1.0:0.0	.	48;48;48;48;48;48	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	Y	48	ENSP00000398469:D48Y;ENSP00000369527:D48Y;ENSP00000322021:D48Y;ENSP00000401579:D48Y;ENSP00000439795:D48Y;ENSP00000321746:D48Y;ENSP00000424297:D48Y;ENSP00000426804:D48Y;ENSP00000424360:D48Y	ENSP00000321746:D48Y	D	+	1	0	PDLIM5	95663943	1.000000	0.71417	0.884000	0.34674	0.979000	0.70002	9.143000	0.94623	2.823000	0.97156	0.650000	0.86243	GAT		0.378	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			10	15	1	0	4.68919e-08	0.008291	5.44003e-08	10	15				
GLRA3	8001	broad.mit.edu	37	4	175598396	175598396	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:175598396C>T	ENST00000274093.3	-	7	1262	c.760G>A	c.(760-762)Gga>Aga	p.G254R	GLRA3_ENST00000340217.5_Missense_Mutation_p.G254R	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	254					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)|Ivermectin(DB00602)|Lindane(DB00431)	AGATAGTATCCCATTTGTCGC	0.428																																							uc003ity.1		NA																	0				ovary(3)	3						c.(760-762)GGA>AGA		glycine receptor, alpha 3 isoform a	Glycine(DB00145)						125.0	116.0	119.0					4																	175598396		2203	4300	6503	SO:0001583	missense	8001				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chr4:175598396C>T	AF017724	CCDS3822.1, CCDS43283.1	4q34.1	2012-02-07			ENSG00000145451	ENSG00000145451		"""Ligand-gated ion channels / Glycine receptors"""	4328	protein-coding gene	gene with protein product		600421				9677400	Standard	NM_001042543		Approved		uc003ity.1	O75311	OTTHUMG00000149816	ENST00000274093.3:c.760G>A	4.37:g.175598396C>T	ENSP00000274093:p.Gly254Arg					GLRA3_uc003itz.1_Missense_Mutation_p.G254R	p.G254R	NM_006529	NP_006520	O75311	GLRA3_HUMAN		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	7	1263	-		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)	254			Helical; (Probable).		D3DP44|O75816|Q5D0E3	Missense_Mutation	SNP	ENST00000274093.3	37	c.760G>A	CCDS3822.1	.	.	.	.	.	.	.	.	.	.	C	34	5.381232	0.95945	.	.	ENSG00000145451	ENST00000274093;ENST00000340217	D;D	0.85556	-2.0;-2.0	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93667	0.7977	M	0.90483	3.12	0.80722	D	1	D;D	0.67145	0.996;0.994	D;P	0.64410	0.925;0.798	D	0.94523	0.7729	10	0.87932	D	0	.	19.5178	0.95171	0.0:1.0:0.0:0.0	.	254;254	O75311-2;O75311	.;GLRA3_HUMAN	R	254	ENSP00000274093:G254R;ENSP00000345284:G254R	ENSP00000274093:G254R	G	-	1	0	GLRA3	175834971	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.701000	0.84566	2.611000	0.88343	0.655000	0.94253	GGA		0.428	GLRA3-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313427.1			7	28	0	0	0	0.00308	0	7	28				
PRDM9	56979	broad.mit.edu	37	5	23524634	23524634	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:23524634G>A	ENST00000296682.3	+	10	1324	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	381				Missing (in Ref. 4; AAF87242). {ECO:0000305}.	meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATGGCAGGGAGAGGTAGGCAT	0.448										HNSCC(3;0.000094)																													uc003jgo.2		NA																	0				ovary(3)|large_intestine(2)|pancreas(1)	6						c.(1141-1143)AGA>AAA		PR domain containing 9							75.0	79.0	78.0					5																	23524634		1874	4087	5961	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524634G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1142G>A	5.37:g.23524634G>A	ENSP00000296682:p.Arg381Lys	HNSCC(3;0.000094)					p.R381K	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			10	1324	+			381	Missing (in Ref. 4; AAF87242).				B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1142G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900080	0.33535	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.08370	3.1	3.81	-7.61	0.01299	.	.	.	.	.	T	0.05731	0.0150	L	0.51422	1.61	0.09310	N	0.999999	P	0.34662	0.462	B	0.30855	0.121	T	0.17592	-1.0364	9	0.24483	T	0.36	-1.0609	6.0319	0.19684	0.4337:0.3801:0.1861:0.0	.	381	Q9NQV7	PRDM9_HUMAN	K	381;175	ENSP00000296682:R381K	ENSP00000253473:R175K	R	+	2	0	PRDM9	23560391	0.025000	0.19082	0.011000	0.14972	0.012000	0.07955	-0.548000	0.06048	-1.474000	0.01879	-0.493000	0.04662	AGA		0.448	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	50	0	0	0	0.00278	0	15	50				
SKP2	6502	broad.mit.edu	37	5	36166718	36166718	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:36166718C>T	ENST00000274255.6	+	4	686	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Missense_Mutation_p.R164C|SKP2_ENST00000508514.1_Intron	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	164					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|cellular response to cell-matrix adhesion (GO:0071460)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	identical protein binding (GO:0042802)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATTGCCTTCCGCTGCCCACG	0.453																																							uc003jkc.1		NA																	0				central_nervous_system(2)|ovary(1)|breast(1)	4						c.(490-492)CGC>TGC		S-phase kinase-associated protein 2 isoform 1							105.0	95.0	99.0					5																	36166718		2203	4300	6503	SO:0001583	missense	6502				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr5:36166718C>T	U33761	CCDS3915.1, CCDS3916.1, CCDS58944.1	5p13	2012-02-23	2012-02-23		ENSG00000145604	ENSG00000145604		"""F-boxes / Leucine-rich repeats"""	10901	protein-coding gene	gene with protein product		601436	"""S-phase kinase-associated protein 2 (p45)"""			8646875	Standard	NM_005983		Approved	FBXL1, FBL1, p45	uc003jkc.2	Q13309	OTTHUMG00000131106	ENST00000274255.6:c.490C>T	5.37:g.36166718C>T	ENSP00000274255:p.Arg164Cys					SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.R164C	p.R164C	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	672	+	all_lung(31;5.63e-05)		164			LRR 1.		A8K5E0|B4DJT4|Q8TDZ0|Q8TDZ1|Q9BV69	Missense_Mutation	SNP	ENST00000274255.6	37	c.490C>T	CCDS3916.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560354	0.65538	.	.	ENSG00000145604	ENST00000274254;ENST00000274255;ENST00000308927;ENST00000513151	T;T;T	0.38240	2.23;2.23;1.15	5.91	4.99	0.66335	.	0.044802	0.85682	N	0.000000	T	0.50086	0.1595	M	0.88377	2.95	0.80722	D	1	D;P	0.58268	0.982;0.75	P;B	0.46585	0.521;0.08	T	0.61312	-0.7088	10	0.87932	D	0	-18.1128	11.1398	0.48396	0.0:0.9058:0.0:0.0942	.	164;164	Q13309-2;Q13309	.;SKP2_HUMAN	C	164;164;130;164	ENSP00000274254:R164C;ENSP00000274255:R164C;ENSP00000423188:R164C	ENSP00000274254:R164C	R	+	1	0	SKP2	36202475	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.039000	0.57325	1.372000	0.46190	0.655000	0.94253	CGC		0.453	SKP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253769.2	NM_005983		15	45	0	0	0	0.00499	0	15	45				
WDR70	55100	broad.mit.edu	37	5	37379592	37379592	+	Splice_Site	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:37379592G>A	ENST00000265107.4	+	2	183	c.27G>A	c.(25-27)gtG>gtA	p.V9V	WDR70_ENST00000504564.1_Splice_Site_p.V9V	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	9							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGCTCCAGTGACAGGCTCAG	0.662																																							uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(25-27)GTG>GTA		WD repeat domain 70							33.0	40.0	37.0					5																	37379592		2201	4296	6497	SO:0001630	splice_region_variant	55100							g.chr5:37379592G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.26-1G>A	5.37:g.37379592G>A						WDR70_uc010iva.1_Silent_p.V9V	p.V9V	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		2	85	+	all_lung(31;0.000285)		9					Q9H053	Silent	SNP	ENST00000265107.4	37	c.27G>A	CCDS34147.1																																																																																				0.662	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034	Silent	31	67	0	0	0	0.010818	0	31	67				
DAB2	1601	broad.mit.edu	37	5	39394407	39394407	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:39394407C>A	ENST00000320816.6	-	2	483	c.16G>T	c.(16-18)Gaa>Taa	p.E6*	DAB2_ENST00000509337.1_Nonsense_Mutation_p.E6*|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000339788.6_Nonsense_Mutation_p.E6*|DAB2_ENST00000545653.1_Nonsense_Mutation_p.E6*	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	6					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCACTTGTTTCTACTTCGTTA	0.483																																							uc003jlx.2		NA																	0				kidney(2)|skin(1)	3						c.(16-18)GAA>TAA		disabled homolog 2							151.0	134.0	139.0					5																	39394407		2203	4300	6503	SO:0001587	stop_gained	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39394407C>A	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.16G>T	5.37:g.39394407C>A	ENSP00000313391:p.Glu6*					DAB2_uc003jlw.2_Nonsense_Mutation_p.E6*	p.E6*	NM_001343	NP_001334	P98082	DAB2_HUMAN	Epithelial(62;0.137)		2	547	-	all_lung(31;0.000197)		6					A6NES5|Q13598|Q9BTY0|Q9UK04	Nonsense_Mutation	SNP	ENST00000320816.6	37	c.16G>T	CCDS34149.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946719	0.92593	.	.	ENSG00000153071	ENST00000320816;ENST00000339788;ENST00000545653;ENST00000509337;ENST00000511792;ENST00000503513;ENST00000515700	.	.	.	5.87	5.87	0.94306	.	0.256457	0.43919	D	0.000511	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-18.9147	20.1948	0.98239	0.0:1.0:0.0:0.0	.	.	.	.	X	6	.	ENSP00000313391:E6X	E	-	1	0	DAB2	39430164	1.000000	0.71417	0.935000	0.37517	0.089000	0.18198	5.154000	0.64894	2.782000	0.95742	0.561000	0.74099	GAA		0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	NM_001343		20	55	1	0	5.26018e-13	0.012319	6.41241e-13	20	55				
HMGCS1	3157	broad.mit.edu	37	5	43299040	43299040	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:43299040C>T	ENST00000325110.6	-	3	234	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	HMGCS1_ENST00000433297.2_Missense_Mutation_p.E10K	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	10					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						CAGCAAGCTTCTGCATTCAAA	0.373																																							uc003jnr.3		NA																	0					0						c.(28-30)GAA>AAA		hydroxymethylglutaryl-CoA synthase 1							64.0	63.0	64.0					5																	43299040		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43299040C>T		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.28G>A	5.37:g.43299040C>T	ENSP00000322706:p.Glu10Lys					HMGCS1_uc003jnq.3_Missense_Mutation_p.E10K	p.E10K	NM_001098272	NP_001091742	Q01581	HMCS1_HUMAN			3	235	-			10					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.28G>A	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184674	0.57909	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275;ENST00000511774	D;D;T	0.90261	-2.64;-2.64;-1.03	6.02	6.02	0.97574	.	0.247910	0.46758	D	0.000266	D	0.87140	0.6103	L	0.36672	1.1	0.48135	D	0.99959	B	0.31968	0.349	B	0.29862	0.108	T	0.83273	-0.0042	10	0.28530	T	0.3	-3.6397	20.5373	0.99239	0.0:1.0:0.0:0.0	.	10	Q01581	HMCS1_HUMAN	K	10	ENSP00000322706:E10K;ENSP00000399402:E10K;ENSP00000427339:E10K	ENSP00000322706:E10K	E	-	1	0	HMGCS1	43334797	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.857000	0.48349	2.857000	0.98124	0.650000	0.86243	GAA		0.373	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			12	50	0	0	0	0.013537	0	12	50				
ACSL6	23305	broad.mit.edu	37	5	131308521	131308521	+	Missense_Mutation	SNP	G	G	A	rs140341663	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:131308521G>A	ENST00000379240.1	-	13	1312	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	ACSL6_ENST00000357096.1_Missense_Mutation_p.R312C|ACSL6_ENST00000379244.1_Missense_Mutation_p.R387C|ACSL6_ENST00000431707.1_Missense_Mutation_p.R367C|ACSL6_ENST00000379264.2_Missense_Mutation_p.R412C|ACSL6_ENST00000379272.2_Missense_Mutation_p.R402C|ACSL6_ENST00000379249.3_Missense_Mutation_p.R387C|ACSL6_ENST00000379246.1_Missense_Mutation_p.R398C|ACSL6_ENST00000544770.1_Missense_Mutation_p.R296C|ACSL6_ENST00000296869.4_Missense_Mutation_p.R412C|ACSL6_ENST00000543479.1_Missense_Mutation_p.R387C|ACSL6_ENST00000379255.1_Missense_Mutation_p.R312C			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	387					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGAGCCAGCGCTTTAATGGT	0.458													G|||	11	0.00219649	0.0076	0.0	5008	,	,		18063	0.0		0.001	False		,,,				2504	0.0						uc010jdo.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1159-1161)CGC>TGC		acyl-CoA synthetase long-chain family member 6		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	25,4381	32.6+/-62.9	0,25,2178	71.0	72.0	71.0		1234,1129,1159,1192,934,1234	6.0	1.0	5	dbSNP_134	71	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense	ACSL6	NM_001009185.2,NM_001205247.1,NM_001205248.1,NM_001205250.1,NM_001205251.1,NM_015256.3	180,180,180,180,180,180	0,25,6478	AA,AG,GG		0.0,0.5674,0.1922	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	412/723,377/688,387/698,398/709,312/623,412/723	131308521	25,12981	2203	4300	6503	SO:0001583	missense	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131308521G>A	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1159C>T	5.37:g.131308521G>A	ENSP00000368542:p.Arg387Cys					ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.R412C|ACSL6_uc003kvy.1_Missense_Mutation_p.R412C|ACSL6_uc003kwb.2_Missense_Mutation_p.R377C|ACSL6_uc003kvz.1_Missense_Mutation_p.R312C|ACSL6_uc003kwa.1_Missense_Mutation_p.R398C|ACSL6_uc003kvw.1_Missense_Mutation_p.R33C|ACSL6_uc010jdn.1_Missense_Mutation_p.R402C	p.R387C	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1242	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	387			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.1159C>T		7	0.003205128205128205	6	0.012195121951219513	0	0.0	0	0.0	1	0.0013192612137203166	G	17.87	3.493950	0.64186	0.005674	0.0	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099	T;T;T;T;T;T;T;T;T;T;T;T;T	0.56611	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;0.45	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	H	0.96861	3.895	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;0.989;1.0;0.939;0.962;0.962;1.0	D;P;D;P;P;P;D	0.71414	0.961;0.66;0.973;0.836;0.705;0.66;0.954	D	0.86125	0.1571	10	0.87932	D	0	.	20.6437	0.99549	0.0:0.0:1.0:0.0	.	387;402;377;387;312;412;412	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	C	387;412;402;312;312;412;398;387;296;387;367;387;352	ENSP00000368551:R387C;ENSP00000368566:R412C;ENSP00000368574:R402C;ENSP00000349608:R312C;ENSP00000368557:R312C;ENSP00000296869:R412C;ENSP00000368548:R398C;ENSP00000368546:R387C;ENSP00000445154:R296C;ENSP00000368542:R387C;ENSP00000413329:R367C;ENSP00000442124:R387C;ENSP00000397507:R352C	ENSP00000296869:R412C	R	-	1	0	ACSL6	131336420	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	6.431000	0.73395	2.890000	0.99128	0.650000	0.86243	CGC		0.458	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1	NM_015256		23	41	0	0	0	0.00278	0	23	41				
IL13	3596	broad.mit.edu	37	5	131995955	131995955	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:131995955G>A	ENST00000304506.3	+	4	436	c.422G>A	c.(421-423)cGc>cAc	p.R141H	IL13_ENST00000468334.1_3'UTR|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	141					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAACTTTTTCGCGAGGGACAG	0.413																																							uc003kxj.1		NA																	0				ovary(1)|skin(1)	2						c.(421-423)CGC>CAC		interleukin 13 precursor							70.0	70.0	70.0					5																	131995955		2203	4300	6503	SO:0001583	missense	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131995955G>A	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"""Interleukins and interleukin receptors"""	5973	protein-coding gene	gene with protein product	"""allergic rhinitis"", ""Bronchial hyperresponsiveness-1 (bronchial asthma)"""	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.422G>A	5.37:g.131995955G>A	ENSP00000304915:p.Arg141His						p.R141H	NM_002188	NP_002179	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	436	+		all_cancers(142;0.0751)|Breast(839;0.198)	141					O43644|Q4VB52|Q9UDC7	Missense_Mutation	SNP	ENST00000304506.3	37	c.422G>A	CCDS4157.1	.	.	.	.	.	.	.	.	.	.	G	9.983	1.228748	0.22542	.	.	ENSG00000169194	ENST00000304506	T	0.52057	0.68	4.62	-0.263	0.12954	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.238468	0.29631	N	0.011611	T	0.31167	0.0788	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	10	0.44086	T	0.13	-16.2768	7.7562	0.28925	0.4547:0.0:0.5453:0.0	.	141	P35225	IL13_HUMAN	H	141	ENSP00000304915:R141H	ENSP00000304915:R141H	R	+	2	0	IL13	132023854	0.033000	0.19621	0.001000	0.08648	0.001000	0.01503	1.137000	0.31479	-0.175000	0.10725	-0.794000	0.03295	CGC		0.413	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		4	28	0	0	0	0.001168	0	4	28				
PCDHB11	56125	broad.mit.edu	37	5	140581426	140581426	+	Silent	SNP	G	G	A	rs373740953		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:140581426G>A	ENST00000354757.3	+	1	2079	c.2079G>A	c.(2077-2079)gcG>gcA	p.A693A	PCDHB11_ENST00000536699.1_Silent_p.A328A	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	693					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A693A(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGTGGCGTTGGCCTCGG	0.692																																							uc003liy.2		NA																	1	Substitution - coding silent(1)		endometrium(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2077-2079)GCG>GCA		protocadherin beta 11 precursor							86.0	87.0	87.0					5																	140581426		2203	4298	6501	SO:0001819	synonymous_variant	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140581426G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2079G>A	5.37:g.140581426G>A						PCDHB11_uc011daj.1_Silent_p.A328A	p.A693A	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2079	+			693			Helical; (Potential).		B4DSF7|Q2M223	Silent	SNP	ENST00000354757.3	37	c.2079G>A	CCDS4253.1																																																																																				0.692	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931		89	114	0	0	0	0.01441	0	89	114				
PCDHGA1	56114	broad.mit.edu	37	5	140711485	140711485	+	Nonsense_Mutation	SNP	A	A	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:140711485A>T	ENST00000517417.1	+	1	1234	c.1234A>T	c.(1234-1236)Aga>Tga	p.R412*	AC005618.6_ENST00000606901.1_lincRNA|PCDHGA1_ENST00000378105.3_Nonsense_Mutation_p.R412*	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	412	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACTGGACAGAGAACTTAT	0.368																																							uc003lji.1		NA																	0				ovary(1)|breast(1)|pancreas(1)	3						c.(1234-1236)AGA>TGA		protocadherin gamma subfamily A, 1 isoform 1							98.0	94.0	95.0					5																	140711485		2203	4300	6503	SO:0001587	stop_gained	56114				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140711485A>T	AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.1234A>T	5.37:g.140711485A>T	ENSP00000431083:p.Arg412*					PCDHGA1_uc011dan.1_Nonsense_Mutation_p.R412*	p.R412*	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1234	+			412			Cadherin 4.|Extracellular (Potential).		Q2M273|Q9Y5D6	Nonsense_Mutation	SNP	ENST00000517417.1	37	c.1234A>T	CCDS54922.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417482	0.83449	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	.	.	.	3.85	3.85	0.44370	.	0.000000	0.48767	U	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9526	0.41647	0.8301:0.1699:0.0:0.0	.	.	.	.	X	412	.	ENSP00000367345:R412X	R	+	1	2	PCDHGA1	140691669	0.989000	0.36119	1.000000	0.80357	0.992000	0.81027	0.444000	0.21661	1.751000	0.51876	0.528000	0.53228	AGA		0.368	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374737.1	NM_018912		24	34	0	0	0	0.003954	0	24	34				
FAT2	2196	broad.mit.edu	37	5	150923577	150923577	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:150923577C>G	ENST00000261800.5	-	9	7123	c.7111G>C	c.(7111-7113)Gat>Cat	p.D2371H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2371	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGATATCAGACACATTG	0.468																																							uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(7111-7113)GAT>CAT		FAT tumor suppressor 2 precursor							90.0	86.0	88.0					5																	150923577		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150923577C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.7111G>C	5.37:g.150923577C>G	ENSP00000261800:p.Asp2371His					GM2A_uc011dcs.1_Intron	p.D2371H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	7124	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2371			Extracellular (Potential).|Cadherin 20.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.7111G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677074	0.68042	.	.	ENSG00000086570	ENST00000261800	T	0.74632	-0.86	5.58	5.58	0.84498	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.64402	D	0.000002	D	0.92795	0.7709	H	0.99273	4.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95481	0.8560	10	0.72032	D	0.01	.	19.5788	0.95458	0.0:1.0:0.0:0.0	.	2371	Q9NYQ8	FAT2_HUMAN	H	2371	ENSP00000261800:D2371H	ENSP00000261800:D2371H	D	-	1	0	FAT2	150903770	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.755000	0.85180	2.626000	0.88956	0.561000	0.74099	GAT		0.468	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		20	60	0	0	0	0.010504	0	20	60				
WWC1	23286	broad.mit.edu	37	5	167826495	167826495	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:167826495C>T	ENST00000265293.4	+	5	1015	c.513C>T	c.(511-513)gtC>gtT	p.V171V	WWC1_ENST00000521089.1_Silent_p.V171V	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	171					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCCTCCAGGTCAACAAGCTGA	0.577																																							uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(511-513)GTC>GTT		WW and C2 domain containing 1 isoform 3							83.0	72.0	76.0					5																	167826495		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167826495C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.513C>T	5.37:g.167826495C>T						WWC1_uc003lzv.2_Silent_p.V171V|WWC1_uc011den.1_Silent_p.V171V	p.V171V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	5	606	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	171			Potential.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.513C>T	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376225	0.42105	.	.	ENSG00000113645	ENST00000393895	.	.	.	5.25	3.42	0.39159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0748	0.14625	0.0:0.6337:0.1731:0.1933	.	.	.	.	X	133	.	.	Q	+	1	0	WWC1	167759073	0.993000	0.37304	1.000000	0.80357	0.932000	0.56968	0.120000	0.15647	0.546000	0.28920	0.563000	0.77884	CAA		0.577	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		9	29	0	0	0	0.006214	0	9	29				
HRH2	3274	broad.mit.edu	37	5	175110317	175110317	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:175110317C>T	ENST00000231683.2	+	1	1854	c.81C>T	c.(79-81)gtC>gtT	p.V27V	HRH2_ENST00000377291.2_Silent_p.V27V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	27					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCCTTGCGGTCCTCATCCTCA	0.582																																							uc003mdd.2		NA																	0				ovary(1)	1						c.(79-81)GTC>GTT		histamine receptor H2 isoform 2	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)						255.0	224.0	234.0					5																	175110317		2203	4300	6503	SO:0001819	synonymous_variant	3274				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity	g.chr5:175110317C>T		CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.81C>T	5.37:g.175110317C>T						HRH2_uc003mdc.3_Silent_p.V27V	p.V27V	NM_022304	NP_071640	P25021	HRH2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	1	1854	+	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	27			Helical; Name=1; (Potential).		B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	c.81C>T	CCDS4395.1																																																																																				0.582	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1			71	128	0	0	0	0.01441	0	71	128				
PHYKPL	85007	broad.mit.edu	37	5	177642318	177642318	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr5:177642318G>A	ENST00000308158.5	-	9	1275	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	347						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	TTTGCTGCCCGAGGAGCTGCA	0.592																																							uc003miz.2		NA																	0				pancreas(1)	1						c.(1039-1041)CTC>CTT		alanine-glyoxylate aminotransferase 2-like 2	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						47.0	41.0	43.0					5																	177642318		2203	4300	6503	SO:0001819	synonymous_variant	85007					mitochondrion	pyridoxal phosphate binding|transaminase activity	g.chr5:177642318G>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1041C>T	5.37:g.177642318G>A						AGXT2L2_uc003miy.2_Silent_p.L72L|AGXT2L2_uc003mjc.2_Silent_p.L306L|AGXT2L2_uc003mja.2_RNA|AGXT2L2_uc003mjb.2_Silent_p.L72L|AGXT2L2_uc003mjd.1_Silent_p.L205L	p.L347L	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	9	1293	-	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	347					A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	c.1041C>T	CCDS4434.1																																																																																				0.592	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		14	19	0	0	0	0.003163	0	14	19				
ZNF184	7738	broad.mit.edu	37	6	27420788	27420788	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:27420788C>A	ENST00000211936.6	-	6	834	c.550G>T	c.(550-552)Ggg>Tgg	p.G184W	ZNF184_ENST00000377419.1_Missense_Mutation_p.G184W	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACTTTTCCCAAATTCATTA	0.398																																							uc003njj.2		NA																	0				ovary(1)	1						c.(550-552)GGG>TGG		zinc finger protein 184							237.0	236.0	237.0					6																	27420788		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27420788C>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.550G>T	6.37:g.27420788C>A	ENSP00000211936:p.Gly184Trp					ZNF184_uc010jqv.2_Missense_Mutation_p.G184W|ZNF184_uc003nji.2_Missense_Mutation_p.G184W	p.G184W	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	1361	-			184					B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.550G>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142655	0.57044	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.07444	3.19;3.19	4.95	4.08	0.47627	.	0.925162	0.08977	N	0.866437	T	0.04588	0.0125	M	0.72479	2.2	0.09310	N	1	P	0.39831	0.69	B	0.32393	0.145	T	0.31998	-0.9923	10	0.72032	D	0.01	.	10.8331	0.46671	0.0:0.9089:0.0:0.0911	.	184	Q99676	ZN184_HUMAN	W	184	ENSP00000211936:G184W;ENSP00000366636:G184W	ENSP00000211936:G184W	G	-	1	0	ZNF184	27528767	0.167000	0.22975	0.003000	0.11579	0.631000	0.37964	4.586000	0.60984	1.314000	0.45095	0.555000	0.69702	GGG		0.398	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		21	146	1	0	1.9806e-07	0.014323	2.2771e-07	21	146				
OR2H2	7932	broad.mit.edu	37	6	29556415	29556415	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:29556415C>T	ENST00000383640.2	+	1	733	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	232				KGR -> TAW (in Ref. 1; AAB36567). {ECO:0000305}.	defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TGCAAAAGGGCGGAGGAAAGC	0.522																																							uc003nmr.1		NA																	0					0						c.(694-696)CGG>TGG		olfactory receptor, family 2, subfamily H,							130.0	123.0	126.0					6																	29556415		1511	2709	4220	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556415C>T		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.694C>T	6.37:g.29556415C>T	ENSP00000373136:p.Arg232Trp					GABBR1_uc003nmp.3_Intron	p.R232W	NM_007160	NP_009091	O95918	OR2H2_HUMAN			1	733	+			232	KGR -> TAW (in Ref. 1; AAB36567).		Cytoplasmic (Potential).		Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.694C>T	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	C	2.284	-0.363970	0.05103	.	.	ENSG00000204657	ENST00000383640	T	0.00335	8.06	4.24	-3.18	0.05186	GPCR, rhodopsin-like superfamily (1);	0.921581	0.08917	N	0.874907	T	0.00109	0.0003	M	0.84773	2.715	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.17410	-1.0370	10	0.42905	T	0.14	.	5.8841	0.18872	0.5824:0.2239:0.0:0.1937	.	232	O95918	OR2H2_HUMAN	W	232	ENSP00000373136:R232W	ENSP00000373136:R232W	R	+	1	2	OR2H2	29664394	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-1.501000	0.02281	-0.406000	0.07588	-1.105000	0.02106	CGG		0.522	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			10	85	0	0	0	0.006214	0	10	85				
EYS	346007	broad.mit.edu	37	6	66112465	66112465	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:66112465C>A	ENST00000370621.3	-	7	1616	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	EYS_ENST00000503581.1_Missense_Mutation_p.D364Y|EYS_ENST00000393380.2_Missense_Mutation_p.D364Y|EYS_ENST00000342421.5_Missense_Mutation_p.D364Y|EYS_ENST00000370618.3_Missense_Mutation_p.D364Y|EYS_ENST00000370616.2_Missense_Mutation_p.D364Y			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	364	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CAAAGCAAATCTGTAAATATT	0.303																																							uc011dxu.1		NA																	0				lung(4)|ovary(1)|skin(1)	6						c.(1090-1092)GAT>TAT		eyes shut homolog isoform 1							60.0	59.0	59.0					6																	66112465		2201	4284	6485	SO:0001583	missense	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66112465C>A		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1090G>T	6.37:g.66112465C>A	ENSP00000359655:p.Asp364Tyr					EYS_uc003peq.2_Missense_Mutation_p.D364Y|EYS_uc003per.1_Missense_Mutation_p.D364Y	p.D364Y	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN			7	1628	-			364			EGF-like 4.		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37	c.1090G>T		.	.	.	.	.	.	.	.	.	.	C	11.91	1.779695	0.31502	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;T;T;T	0.86097	-2.07;-2.07;-2.07;1.53;1.53;1.53	4.54	1.66	0.24008	.	.	.	.	.	T	0.72003	0.3407	L	0.49778	1.585	0.09310	N	1	P;P;P	0.49447	0.876;0.924;0.875	B;P;B	0.47941	0.346;0.562;0.359	T	0.64584	-0.6373	9	0.87932	D	0	.	4.6425	0.12556	0.1728:0.6428:0.0:0.1844	.	364;364;364	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	Y	364	ENSP00000424243:D364Y;ENSP00000359655:D364Y;ENSP00000359650:D364Y;ENSP00000377042:D364Y;ENSP00000341818:D364Y;ENSP00000359652:D364Y	ENSP00000341818:D364Y	D	-	1	0	EYS	66169186	0.255000	0.24002	0.001000	0.08648	0.028000	0.11728	0.391000	0.20784	0.019000	0.15079	0.591000	0.81541	GAT		0.303	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050		16	29	1	0	4.7546e-09	0.004007	5.58339e-09	16	29				
SNX14	57231	broad.mit.edu	37	6	86227558	86227558	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:86227558G>A	ENST00000314673.3	-	23	2360	c.2184C>T	c.(2182-2184)ttC>ttT	p.F728F	SNX14_ENST00000346348.3_Silent_p.F675F|SNX14_ENST00000513865.1_Silent_p.F447F|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000369627.2_Silent_p.F719F|SNX14_ENST00000505648.1_Silent_p.F676F	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	728					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)	p.F728F(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGAATTAATGAAATTCATGA	0.343																																							uc003pkr.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2182-2184)TTC>TTT		sorting nexin 14 isoform a							123.0	119.0	121.0					6																	86227558		2203	4300	6503	SO:0001819	synonymous_variant	57231				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity	g.chr6:86227558G>A	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.2184C>T	6.37:g.86227558G>A						SNX14_uc003pkp.2_Silent_p.F591F|SNX14_uc003pkq.2_Silent_p.F334F|SNX14_uc011dzg.1_Silent_p.F676F|SNX14_uc003pks.2_Silent_p.F675F|SNX14_uc003pkt.2_Silent_p.F719F	p.F728F	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0423)	23	2377	-		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)	728					B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Silent	SNP	ENST00000314673.3	37	c.2184C>T	CCDS5004.1																																																																																				0.343	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041393.2	NM_153816		5	36	0	0	0	0.000602	0	5	36				
ZNF292	23036	broad.mit.edu	37	6	87966229	87966229	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:87966229G>A	ENST00000369577.3	+	8	2925	c.2882G>A	c.(2881-2883)gGc>gAc	p.G961D	ZNF292_ENST00000339907.4_Missense_Mutation_p.G956D	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	961						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ACTGTGGAAGGCAGTGGTGAA	0.433																																							uc003plm.3		NA																	0				ovary(4)	4						c.(2881-2883)GGC>GAC		zinc finger protein 292							85.0	82.0	83.0					6																	87966229		1929	4123	6052	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87966229G>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2882G>A	6.37:g.87966229G>A	ENSP00000358590:p.Gly961Asp						p.G961D	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	2923	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	961					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.2882G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.347737	0.01266	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07688	3.17;3.18	5.47	0.537	0.17144	.	0.674852	0.15637	N	0.252104	T	0.01523	0.0049	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46020	-0.9221	10	0.36615	T	0.2	.	4.6537	0.12606	0.4139:0.1544:0.4317:0.0	.	961	O60281	ZN292_HUMAN	D	961;956	ENSP00000358590:G961D;ENSP00000342847:G956D	ENSP00000342847:G956D	G	+	2	0	ZNF292	88022948	0.994000	0.37717	0.809000	0.32408	0.017000	0.09413	0.860000	0.27871	0.085000	0.17107	-0.282000	0.10007	GGC		0.433	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		20	47	0	0	0	0.010504	0	20	47				
FBXL4	26235	broad.mit.edu	37	6	99323402	99323402	+	Nonsense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:99323402G>A	ENST00000369244.2	-	9	2019	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*	FBXL4_ENST00000229971.1_Nonsense_Mutation_p.Q531*	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	531					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTTGGGAGCTGGTGTGCCAGT	0.502																																							uc003ppf.1		NA																	0				skin(2)	2						c.(1591-1593)CAG>TAG		F-box and leucine-rich repeat protein 4							93.0	88.0	89.0					6																	99323402		2203	4300	6503	SO:0001587	stop_gained	26235				ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		g.chr6:99323402G>A	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1591C>T	6.37:g.99323402G>A	ENSP00000358247:p.Gln531*					FBXL4_uc003ppg.1_Nonsense_Mutation_p.Q531*|FBXL4_uc003pph.1_Nonsense_Mutation_p.Q133*|FBXL4_uc010kcp.2_Nonsense_Mutation_p.Q109*	p.Q531*	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0413)	8	1949	-		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	531					B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Nonsense_Mutation	SNP	ENST00000369244.2	37	c.1591C>T	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	39	7.741475	0.98465	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	.	.	.	5.88	4.94	0.65067	.	0.300464	0.40818	N	0.001016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	11.595	0.50968	0.0:0.0:0.6172:0.3828	.	.	.	.	X	531	.	ENSP00000229971:Q531X	Q	-	1	0	FBXL4	99430123	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.640000	0.54350	2.789000	0.95967	0.591000	0.81541	CAG		0.502	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			4	44	0	0	0	0.009096	0	4	44				
LIN28B	389421	broad.mit.edu	37	6	105406144	105406144	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:105406144G>A	ENST00000345080.4	+	2	384	c.181G>A	c.(181-183)Gat>Aat	p.D61N		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	61	CSD.				miRNA catabolic process (GO:0010587)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA 3'-end processing (GO:0031123)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				TATTCCAGTCGATGTATTTGT	0.458																																							uc003pqv.1		NA																	0					0						c.(181-183)GAT>AAT		lin-28 homolog B							91.0	95.0	93.0					6																	105406144		2203	4300	6503	SO:0001583	missense	389421				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr6:105406144G>A	AK131411	CCDS34504.1	6q21	2010-04-06			ENSG00000187772	ENSG00000187772			32207	protein-coding gene	gene with protein product		611044					Standard	NM_001004317		Approved	FLJ16517, CSDD2	uc003pqv.2	Q6ZN17	OTTHUMG00000015290	ENST00000345080.4:c.181G>A	6.37:g.105406144G>A	ENSP00000344401:p.Asp61Asn					LIN28B_uc010kda.1_Missense_Mutation_p.D21N	p.D61N	NM_001004317	NP_001004317	Q6ZN17	LN28B_HUMAN			2	384	+		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)	61			CSD.		A1L165|B2RPN6|Q5TCM4	Missense_Mutation	SNP	ENST00000345080.4	37	c.181G>A	CCDS34504.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820077	0.90873	.	.	ENSG00000187772	ENST00000345080	.	.	.	5.78	5.78	0.91487	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.000000	0.85682	D	0.000000	D	0.89466	0.6723	H	0.96970	3.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92093	0.5682	9	0.72032	D	0.01	-14.1624	20.0044	0.97430	0.0:0.0:1.0:0.0	.	38;61	A7E2T3;Q6ZN17	.;LN28B_HUMAN	N	61	.	ENSP00000344401:D61N	D	+	1	0	LIN28B	105512837	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GAT		0.458	LIN28B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041646.2	NM_001004317		6	66	0	0	0	0.001984	0	6	66				
PRDM1	639	broad.mit.edu	37	6	106554835	106554835	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:106554835G>C	ENST00000369096.4	+	7	2186	c.1952G>C	c.(1951-1953)cGa>cCa	p.R651P	PRDM1_ENST00000369091.2_Missense_Mutation_p.R615P|PRDM1_ENST00000369089.3_Missense_Mutation_p.R517P	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	651					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ACCCACCTGCGACTCCATTCT	0.547			"""D, N, Mis, F, S"""		DLBCL																																		uc003prd.2		NA		Rec	yes		6	6q21	639	D|N|Mis|F|S	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56						c.(1951-1953)CGA>CCA		PR domain containing 1, with ZNF domain isoform							94.0	93.0	93.0					6																	106554835		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106554835G>C		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1952G>C	6.37:g.106554835G>C	ENSP00000358092:p.Arg651Pro					PRDM1_uc003pre.2_Missense_Mutation_p.R517P	p.R651P	NM_001198	NP_001189	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	7	2186	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	651			C2H2-type 3.		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1952G>C	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147551	0.77888	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.25749	1.78;1.78;1.78	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.55296	-0.8163	10	0.87932	D	0	-15.6467	20.6208	0.99490	0.0:0.0:1.0:0.0	.	517;651	Q86WM7;O75626	.;PRDM1_HUMAN	P	615;651;614;517	ENSP00000358087:R615P;ENSP00000358092:R651P;ENSP00000358085:R517P	ENSP00000358085:R517P	R	+	2	0	PRDM1	106661528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.771000	0.74996	2.882000	0.98803	0.655000	0.94253	CGA		0.547	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			10	79	0	0	0	0.00245	0	10	79				
EYA4	2070	broad.mit.edu	37	6	133777745	133777745	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:133777745C>A	ENST00000367895.5	+	6	793	c.329C>A	c.(328-330)gCc>gAc	p.A110D	EYA4_ENST00000525849.1_Missense_Mutation_p.A87D|EYA4_ENST00000355286.6_Missense_Mutation_p.A87D|RP1-283K11.2_ENST00000457081.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.A110D|EYA4_ENST00000355167.3_Missense_Mutation_p.A110D|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000531901.1_Missense_Mutation_p.A110D|EYA4_ENST00000430974.2_Intron	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	110					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)	p.A110V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAAACCACAGCCACGACTGGA	0.458																																					Melanoma(57;398 1237 3528 4702 7415)	Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	2	Substitution - Missense(2)		breast(2)	large_intestine(2)	2						c.(328-330)GCC>GAC		eyes absent 4 isoform a							214.0	210.0	211.0					6																	133777745		2203	4300	6503	SO:0001583	missense	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133777745C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.329C>A	6.37:g.133777745C>A	ENSP00000356870:p.Ala110Asp					EYA4_uc011ecq.1_Intron|EYA4_uc011ecr.1_Intron|EYA4_uc003qed.3_Missense_Mutation_p.A110D|EYA4_uc003qee.3_Missense_Mutation_p.A87D|EYA4_uc011ecs.1_Missense_Mutation_p.A110D|uc003qef.1_RNA	p.A110D	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	6	787	+	Colorectal(23;0.221)		110					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	ENST00000367895.5	37	c.329C>A	CCDS5165.1	.	.	.	.	.	.	.	.	.	.	C	14.39	2.522165	0.44866	.	.	ENSG00000112319	ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.38	4.49	0.54785	.	0.212024	0.48767	D	0.000175	T	0.22859	0.0552	N	0.08118	0	0.18873	N	0.999987	B;B;B;B	0.20459	0.03;0.045;0.03;0.03	B;B;B;B	0.25405	0.06;0.033;0.06;0.06	T	0.16424	-1.0403	10	0.17832	T	0.49	-15.3994	15.8553	0.78975	0.0:0.8638:0.1362:0.0	.	110;87;110;110	F2Z2Y1;O95677-2;O95677-4;O95677	.;.;.;EYA4_HUMAN	D	110;110;87;110;87;110	ENSP00000356870:A110D;ENSP00000347294:A110D;ENSP00000347434:A87D;ENSP00000432770:A110D;ENSP00000433219:A87D;ENSP00000404558:A110D	ENSP00000347294:A110D	A	+	2	0	EYA4	133819438	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.840000	0.48215	1.220000	0.43490	0.655000	0.94253	GCC		0.458	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		12	135	1	0	1.52009e-12	0.003163	1.84137e-12	12	135				
LPA	4018	broad.mit.edu	37	6	161071369	161071369	+	Splice_Site	SNP	C	C	T	rs533200556	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr6:161071369C>T	ENST00000316300.5	-	2	254		c.e2+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAATGACATACGCATTTGGGT	0.403																																							uc003qtl.2		NA																	0				ovary(3)|skin(2)|pancreas(1)	6						c.e3+1		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						204.0	218.0	213.0					6																	161071369		2183	4295	6478	SO:0001630	splice_region_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161071369C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.209+1G>A	6.37:g.161071369C>T							p.A70_splice	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	3	329	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)						Q5VTD7|Q9UD88	Splice_Site	SNP	ENST00000316300.5	37	c.209_splice	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	C	5.837	0.338662	0.11069	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.57	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.71	0.34378	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160991359	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	2.199000	0.42715	1.433000	0.47394	0.505000	0.49811	.		0.403	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	Intron	64	100	0	0	0	0.01441	0	64	100				
SNX13	23161	broad.mit.edu	37	7	17931175	17931175	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:17931175G>A	ENST00000409389.1	-	4	484	c.312C>T	c.(310-312)ctC>ctT	p.L104L	SNX13_ENST00000428135.3_Silent_p.L104L|SNX13_ENST00000409604.1_Silent_p.L104L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	104	PXA. {ECO:0000255|PROSITE- ProRule:PRU00147, ECO:0000255|PROSITE- ProRule:PRU00553}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCACTTGCTGGAGAGGTTCAT	0.338																																							uc003stw.1		NA																	0				central_nervous_system(2)|kidney(1)	3						c.(310-312)CTC>CTT		SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g;							90.0	85.0	86.0					7																	17931175		1839	4088	5927	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17931175G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.312C>T	7.37:g.17931175G>A						SNX13_uc003stv.2_Silent_p.L104L|SNX13_uc010kuc.2_5'UTR|SNX13_uc003stx.1_Silent_p.L24L|SNX13_uc003sty.2_Silent_p.L104L	p.L104L			Q9Y5W8	SNX13_HUMAN			4	525	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		104			PXA.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.312C>T																																																																																					0.338	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		17	41	0	0	0	0.006122	0	17	41				
HECW1	23072	broad.mit.edu	37	7	43506115	43506115	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:43506115C>T	ENST00000395891.2	+	15	3466	c.2861C>T	c.(2860-2862)gCg>gTg	p.A954V	HECW1_ENST00000453890.1_Missense_Mutation_p.A920V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	954					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGTCCCCAGCGGTCAAGTTC	0.498																																							uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2860-2862)GCG>GTG		NEDD4-like ubiquitin-protein ligase 1							113.0	106.0	108.0					7																	43506115		1946	4141	6087	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43506115C>T	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2861C>T	7.37:g.43506115C>T	ENSP00000379228:p.Ala954Val					HECW1_uc011kbi.1_Missense_Mutation_p.A920V	p.A954V	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			15	3466	+			954					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.2861C>T	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823251	0.90873	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	D;D	0.84442	-1.85;-1.85	5.8	5.8	0.92144	.	0.141567	0.64402	D	0.000005	D	0.91720	0.7382	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;B	0.81914	0.995;0.406	D	0.91353	0.5106	10	0.59425	D	0.04	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	920;954	B4DH42;Q76N89	.;HECW1_HUMAN	V	954;920;954	ENSP00000379228:A954V;ENSP00000407774:A920V	ENSP00000265522:A954V	A	+	2	0	HECW1	43472640	1.000000	0.71417	0.856000	0.33681	1.000000	0.99986	5.550000	0.67268	2.744000	0.94065	0.655000	0.94253	GCG		0.498	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		29	55	0	0	0	0.007291	0	29	55				
ADCY1	107	broad.mit.edu	37	7	45697356	45697356	+	Silent	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:45697356G>C	ENST00000297323.7	+	6	1201	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	ADCY1_ENST00000432715.1_Silent_p.L168L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	393					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGGATCTGAACATGCGTG	0.612																																							uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1177-1179)CTG>CTC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						104.0	79.0	88.0					7																	45697356		2203	4300	6503	SO:0001819	synonymous_variant	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45697356G>C	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1179G>C	7.37:g.45697356G>C						ADCY1_uc003tnd.2_Silent_p.L168L	p.L393L	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			6	1197	+			393			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	c.1179G>C	CCDS34631.1																																																																																				0.612	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		5	17	0	0	0	0.000602	0	5	17				
ZNF716	441234	broad.mit.edu	37	7	57528802	57528802	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:57528802C>A	ENST00000420713.1	+	4	747	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGGGAGAAGTCTTACAAATGT	0.358																																							uc011kdi.1		NA																	0				ovary(2)	2						c.(634-636)TCT>TAT		zinc finger protein 716							51.0	45.0	47.0					7																	57528802		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528802C>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.635C>A	7.37:g.57528802C>A	ENSP00000394248:p.Ser212Tyr						p.S212Y	NM_001159279	NP_001152751					4	747	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.635C>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	3.439	-0.114365	0.06881	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.18338	2.22	0.195	0.195	0.15151	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17280	0.0415	M	0.62154	1.92	0.21325	N	0.999724	B	0.16166	0.016	B	0.19946	0.027	T	0.29027	-1.0025	9	0.62326	D	0.03	.	6.2336	0.20750	0.0:0.9997:0.0:3.0E-4	.	200	A6NP11	ZN716_HUMAN	Y	212;200	ENSP00000394248:S212Y	ENSP00000387687:S200Y	S	+	2	0	ZNF716	57532744	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.374000	0.34283	0.300000	0.22699	0.306000	0.20318	TCT		0.358	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		7	13	1	0	0.00198382	0.001984	0.00214588	7	13				
AKAP9	10142	broad.mit.edu	37	7	91694636	91694636	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:91694636G>A	ENST00000359028.2	+	26	6330	c.6105G>A	c.(6103-6105)gtG>gtA	p.V2035V	AKAP9_ENST00000356239.3_Silent_p.V2023V|AKAP9_ENST00000358100.2_Silent_p.V2035V|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2035	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAAACAAGTGAAAGCTCTAG	0.328			T	BRAF	papillary thyroid																																		uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6067-6069)GTG>GTA		A-kinase anchor protein 9 isoform 2							79.0	78.0	78.0					7																	91694636		2203	4300	6503	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91694636G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6105G>A	7.37:g.91694636G>A						AKAP9_uc003ulf.2_Silent_p.V2023V|AKAP9_uc003uli.2_Silent_p.V1646V	p.V2023V	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6294	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2035			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.6069G>A																																																																																					0.328	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		6	22	0	0	0	0.001168	0	6	22				
KRIT1	889	broad.mit.edu	37	7	91851243	91851243	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:91851243C>T	ENST00000340022.2	-	14	2554	c.1536G>A	c.(1534-1536)gtG>gtA	p.V512V	KRIT1_ENST00000394505.2_Silent_p.V512V|KRIT1_ENST00000394507.1_Silent_p.V512V|KRIT1_ENST00000394503.2_Silent_p.V464V|KRIT1_ENST00000412043.2_Silent_p.V512V	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	512	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGGGAAGTCTCACATCTCTTC	0.378																																							uc003ulq.1		NA																	0				ovary(2)|lung(1)	3						c.(1534-1536)GTG>GTA		krev interaction trapped 1 isoform 1							78.0	77.0	77.0					7																	91851243		2203	4300	6503	SO:0001819	synonymous_variant	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91851243C>T	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1536G>A	7.37:g.91851243C>T						KRIT1_uc010lev.1_Silent_p.V269V|KRIT1_uc003ulr.1_Silent_p.V512V|KRIT1_uc003uls.1_Silent_p.V512V|KRIT1_uc003ult.1_Silent_p.V464V|KRIT1_uc003ulu.1_Silent_p.V512V|KRIT1_uc003ulv.1_Silent_p.V512V	p.V512V	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		12	1707	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		512			Required for RAP1A binding.|FERM.		A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Silent	SNP	ENST00000340022.2	37	c.1536G>A	CCDS5624.1																																																																																				0.378	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			83	94	0	0	0	0.01441	0	83	94				
SAMD9L	219285	broad.mit.edu	37	7	92763666	92763666	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:92763666C>A	ENST00000318238.4	-	5	2835	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R540I|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R540I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	540					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATTTTCCTCTTGTCATTAT	0.368																																							uc003umh.1		NA																	0				ovary(4)	4						c.(1618-1620)AGA>ATA		sterile alpha motif domain containing 9-like							41.0	46.0	44.0					7																	92763666		2202	4297	6499	SO:0001583	missense	219285							g.chr7:92763666C>A	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1619G>T	7.37:g.92763666C>A	ENSP00000326247:p.Arg540Ile					SAMD9L_uc003umj.1_Missense_Mutation_p.R540I|SAMD9L_uc003umi.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfb.1_Missense_Mutation_p.R540I|SAMD9L_uc003umk.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfc.1_Missense_Mutation_p.R540I|SAMD9L_uc010lfd.1_Missense_Mutation_p.R540I|SAMD9L_uc011khx.1_Intron	p.R540I	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	2835	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		540					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1619G>T	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.179655	0.38511	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.13307	2.6;2.6;2.6	4.74	0.462	0.16695	.	0.490264	0.19205	N	0.120069	T	0.16896	0.0406	L	0.53249	1.67	0.27396	N	0.954984	P	0.49559	0.925	P	0.48141	0.568	T	0.07290	-1.0780	10	0.66056	D	0.02	-3.5812	8.6237	0.33877	0.0:0.5632:0.0:0.4368	.	540	Q8IVG5	SAM9L_HUMAN	I	540	ENSP00000326247:R540I;ENSP00000405760:R540I;ENSP00000408796:R540I	ENSP00000326247:R540I	R	-	2	0	SAMD9L	92601602	0.000000	0.05858	0.886000	0.34754	0.539000	0.34962	-0.312000	0.08113	0.149000	0.19098	0.460000	0.39030	AGA		0.368	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		7	134	1	0	0.00198382	0.001984	0.00214588	7	134				
SGCE	8910	broad.mit.edu	37	7	94228233	94228233	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:94228233C>G	ENST00000265735.7	-	9	1217	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SGCE_ENST00000445866.2_Missense_Mutation_p.K369N|SGCE_ENST00000415788.2_Missense_Mutation_p.K405N|SGCE_ENST00000447873.1_Missense_Mutation_p.K360N|SGCE_ENST00000428696.2_Missense_Mutation_p.K360N|SGCE_ENST00000437425.2_Missense_Mutation_p.K328N	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	369					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCGAAGCTCCTTGGTAGATT	0.418																																							uc003unl.2		NA																	0				ovary(1)	1						c.(1105-1107)AAG>AAC		sarcoglycan, epsilon isoform 2							128.0	118.0	121.0					7																	94228233		2203	4300	6503	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94228233C>G	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.1107G>C	7.37:g.94228233C>G	ENSP00000265735:p.Lys369Asn					SGCE_uc003unk.2_Missense_Mutation_p.K192N|SGCE_uc003unm.2_Missense_Mutation_p.K369N|SGCE_uc003unn.2_Missense_Mutation_p.K360N|SGCE_uc011kic.1_Missense_Mutation_p.K328N|SGCE_uc011kid.1_Missense_Mutation_p.K405N	p.K369N	NM_003919	NP_003910	O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		9	1218	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		369			Cytoplasmic (Potential).		B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.1107G>C	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.570028	0.45798	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	5.21	1.7	0.24286	.	0.000000	0.85682	D	0.000000	D	0.95664	0.8590	L	0.31664	0.95	0.58432	D	0.99999	D;B;D;B;D;D	0.89917	1.0;0.006;0.992;0.34;0.997;0.997	D;B;D;B;D;D	0.91635	0.999;0.013;0.91;0.155;0.994;0.994	D	0.92296	0.5845	10	0.40728	T	0.16	-17.1935	3.7194	0.08450	0.1666:0.2478:0.0:0.5857	.	405;328;360;369;369;360	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556;C9JR67	.;.;.;.;SGCE_HUMAN;.	N	369;369;328;360;360;405	ENSP00000265735:K369N;ENSP00000398930:K369N;ENSP00000394061:K328N;ENSP00000388734:K360N;ENSP00000397536:K360N;ENSP00000405313:K405N	ENSP00000265735:K369N	K	-	3	2	SGCE	94066169	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.132000	0.31418	0.532000	0.28657	0.650000	0.86243	AAG		0.418	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			17	164	0	0	0	0.00499	0	17	164				
ASB4	51666	broad.mit.edu	37	7	95125216	95125216	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:95125216C>A	ENST00000325885.5	+	2	405	c.334C>A	c.(334-336)Cac>Aac	p.H112N	ASB4_ENST00000428113.1_Missense_Mutation_p.H112N|ASB4_ENST00000257621.4_3'UTR	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	112					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AACCCCTCTTCACGTGGCTTG	0.478																																							uc011kij.1		NA																	0				central_nervous_system(1)	1						c.(334-336)CAC>AAC		ankyrin repeat and SOCS box-containing protein 4							202.0	146.0	165.0					7																	95125216		2203	4300	6503	SO:0001583	missense	51666				intracellular signal transduction			g.chr7:95125216C>A	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.334C>A	7.37:g.95125216C>A	ENSP00000321388:p.His112Asn					ASB4_uc003unx.2_Missense_Mutation_p.H112N	p.H112N	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		2	334	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		112			ANK 2.		A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	ENST00000325885.5	37	c.334C>A	CCDS5641.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.651873	0.88056	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.71341	-0.56;-0.56	5.35	5.35	0.76521	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87305	0.6144	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.89072	0.3470	10	0.72032	D	0.01	-8.706	19.4503	0.94863	0.0:1.0:0.0:0.0	.	112;112	Q9Y574;Q14D68	ASB4_HUMAN;.	N	112	ENSP00000321388:H112N;ENSP00000397070:H112N	ENSP00000321388:H112N	H	+	1	0	ASB4	94963152	1.000000	0.71417	0.989000	0.46669	0.844000	0.47949	7.220000	0.78008	2.680000	0.91292	0.655000	0.94253	CAC		0.478	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2	NM_016116		24	201	1	0	3.28513e-13	0.003954	4.01748e-13	24	201				
TRRAP	8295	broad.mit.edu	37	7	98586403	98586403	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:98586403C>G	ENST00000359863.4	+	62	9626	c.9417C>G	c.(9415-9417)aaC>aaG	p.N3139K	TRRAP_ENST00000446306.3_Missense_Mutation_p.N3110K|TRRAP_ENST00000355540.3_Missense_Mutation_p.N3110K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3139	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGAGGCAAACAAAGCCTTCT	0.483																																							uc003upp.2		NA																	0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9415-9417)AAC>AAG		transformation/transcription domain-associated							81.0	80.0	80.0					7																	98586403		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98586403C>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9417C>G	7.37:g.98586403C>G	ENSP00000352925:p.Asn3139Lys					TRRAP_uc011kis.1_Missense_Mutation_p.N3110K|TRRAP_uc003upr.2_Missense_Mutation_p.N2827K	p.N3139K	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		62	9626	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3139			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9417C>G	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.125088|4.125088	0.77436|0.77436	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.62232|.	0.04;0.04|.	5.53|5.53	3.72|3.72	0.42706|0.42706	PIK-related kinase (1);Tetratricopeptide-like helical (1);PIK-related kinase, FAT (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77618|0.77618	0.4157|0.4157	M|M	0.90542|0.90542	3.125|3.125	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.999;1.0|.	D;D;D|.	0.75020|.	0.959;0.978;0.985|.	T|T	0.80296|0.80296	-0.1442|-0.1442	10|5	0.72032|.	D|.	0.01|.	.|.	9.4817|9.4817	0.38904|0.38904	0.0:0.783:0.0:0.217|0.0:0.783:0.0:0.217	.|.	3110;2849;3139|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	K|R	3139;3110;3109|2850	ENSP00000352925:N3139K;ENSP00000347733:N3110K|.	ENSP00000347733:N3110K|.	N|T	+|+	3|2	2|0	TRRAP|TRRAP	98424339|98424339	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.200000|2.200000	0.42724|0.42724	1.340000|1.340000	0.45581|0.45581	0.655000|0.655000	0.94253|0.94253	AAC|ACA		0.483	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		9	155	0	0	0	0.004482	0	9	155				
TRIM4	89122	broad.mit.edu	37	7	99490035	99490035	+	Silent	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:99490035C>A	ENST00000355947.2	-	7	1383	c.1254G>T	c.(1252-1254)gcG>gcT	p.A418A	TRIM4_ENST00000349062.2_Silent_p.A392A	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	418	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TCCAATAAATCGCCCAGATGC	0.542																																							uc003usd.2		NA																	0				ovary(1)|kidney(1)	2						c.(1252-1254)GCG>GCT		tripartite motif protein TRIM4 isoform alpha							161.0	164.0	163.0					7																	99490035		2203	4300	6503	SO:0001819	synonymous_variant	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99490035C>A	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1254G>T	7.37:g.99490035C>A						TRIM4_uc003use.2_Silent_p.A392A|TRIM4_uc011kjc.1_Silent_p.A248A	p.A418A	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN			7	1384	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	418			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Silent	SNP	ENST00000355947.2	37	c.1254G>T	CCDS5679.1																																																																																				0.542	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		69	844	1	0	2.94884e-30	0.01441	3.78714e-30	69	844				
CFTR	1080	broad.mit.edu	37	7	117171025	117171025	+	Missense_Mutation	SNP	G	G	A	rs397508571		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:117171025G>A	ENST00000003084.6	+	4	478	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	CFTR_ENST00000454343.1_Missense_Mutation_p.E116K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	116	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TAACAAGGAGGAACGCTCTAT	0.448									Cystic Fibrosis																														uc003vjd.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5	GRCh37	CM003239|CM066753|CM941966	CFTR	M		c.(346-348)GAA>AAA		cystic fibrosis transmembrane conductance	Bumetanide(DB00887)|Glibenclamide(DB01016)						107.0	93.0	98.0					7																	117171025		2203	4300	6503	SO:0001583	missense	1080	Cystic_Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117171025G>A	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.346G>A	7.37:g.117171025G>A	ENSP00000003084:p.Glu116Lys					CFTR_uc011knq.1_5'UTR	p.E116K	NM_000492	NP_000483	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		4	478	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		116			ABC transmembrane type-1 1.|Extracellular (Potential).		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.346G>A	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419307	0.83559	.	.	ENSG00000001626	ENST00000446805;ENST00000003084;ENST00000454343;ENST00000426809	D;D;D;D	0.99758	-6.65;-2.9;-2.9;-2.9	5.73	5.73	0.89815	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99943	1.1436	10	0.16896	T	0.51	-17.2878	20.263	0.98456	0.0:0.0:1.0:0.0	.	116	P13569	CFTR_HUMAN	K	35;116;116;116	ENSP00000417012:E35K;ENSP00000003084:E116K;ENSP00000403677:E116K;ENSP00000389119:E116K	ENSP00000003084:E116K	E	+	1	0	CFTR	116958261	1.000000	0.71417	0.915000	0.36163	0.096000	0.18686	9.420000	0.97426	2.868000	0.98415	0.555000	0.69702	GAA		0.448	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		8	205	0	0	0	0.00308	0	8	205				
AASS	10157	broad.mit.edu	37	7	121726194	121726194	+	Missense_Mutation	SNP	C	C	T	rs117830956	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:121726194C>T	ENST00000393376.1	-	18	2151	c.2056G>A	c.(2056-2058)Gtt>Att	p.V686I	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.V686I			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	686	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ATGGACGTAACGGCATCAAGA	0.428													C|||	2	0.000399361	0.0	0.0014	5008	,	,		15133	0.0		0.001	False		,,,				2504	0.0						uc003vka.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(2056-2058)GTT>ATT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						75.0	72.0	73.0					7																	121726194		2203	4300	6503	SO:0001583	missense	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121726194C>T	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2056G>A	7.37:g.121726194C>T	ENSP00000377040:p.Val686Ile					AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.V686I|AASS_uc011knw.1_Missense_Mutation_p.V174I	p.V686I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			18	2152	-			686			Saccharopine dehydrogenase.		O95462	Missense_Mutation	SNP	ENST00000393376.1	37	c.2056G>A	CCDS5783.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	14.59	2.580321	0.46006	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.43294	0.95;0.95	6.08	6.08	0.98989	.	0.219310	0.47455	D	0.000236	T	0.38134	0.1029	L	0.41961	1.31	0.29868	N	0.827104	P	0.44344	0.833	B	0.36534	0.227	T	0.36089	-0.9762	10	0.36615	T	0.2	-24.7101	20.2585	0.98435	0.0:1.0:0.0:0.0	.	686	Q9UDR5	AASS_HUMAN	I	686	ENSP00000377040:V686I;ENSP00000403768:V686I	ENSP00000351834:V686I	V	-	1	0	AASS	121513430	0.901000	0.30685	0.118000	0.21660	0.150000	0.21749	2.222000	0.42926	2.894000	0.99253	0.655000	0.94253	GTT		0.428	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		4	39	0	0	0	0.009096	0	4	39				
TAS2R40	259286	broad.mit.edu	37	7	142919577	142919577	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:142919577A>T	ENST00000408947.3	+	1	448	c.406A>T	c.(406-408)Agg>Tgg	p.R136W	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	136					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CCTGATGAAGAGGAAAATCAT	0.423																																							uc011ksx.1		NA																	0				ovary(1)	1						c.(406-408)AGG>TGG		taste receptor, type 2, member 40							171.0	160.0	163.0					7																	142919577		1954	4159	6113	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919577A>T	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.406A>T	7.37:g.142919577A>T	ENSP00000386210:p.Arg136Trp						p.R136W	NM_176882	NP_795363	P59535	T2R40_HUMAN			1	406	+	Melanoma(164;0.059)		136			Cytoplasmic (Potential).		A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.406A>T	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370896	0.42003	.	.	ENSG00000221937	ENST00000408947	T	0.42900	0.96	5.59	0.128	0.14733	.	1.284650	0.05583	N	0.573330	T	0.16854	0.0405	N	0.01761	-0.735	0.25505	N	0.987517	B	0.10296	0.003	B	0.09377	0.004	T	0.21008	-1.0258	10	0.20046	T	0.44	.	6.3048	0.21133	0.2817:0.4745:0.0:0.2438	.	136	P59535	T2R40_HUMAN	W	136	ENSP00000386210:R136W	ENSP00000386210:R136W	R	+	1	2	TAS2R40	142629699	0.005000	0.15991	0.744000	0.31058	0.989000	0.77384	-0.017000	0.12590	0.354000	0.24105	0.533000	0.62120	AGG		0.423	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			47	125	0	0	0	0.011902	0	47	125				
KMT2C	58508	broad.mit.edu	37	7	151927076	151927076	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:151927076C>A	ENST00000262189.6	-	18	3126	c.2908G>T	c.(2908-2910)Gca>Tca	p.A970S	KMT2C_ENST00000355193.2_Missense_Mutation_p.A970S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	970					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTCCTTCTGCTCCTTGGCCA	0.353																																						Colon(68;14 1149 1884 27689 34759)	uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2908-2910)GCA>TCA		myeloid/lymphoid or mixed-lineage leukemia 3							63.0	52.0	56.0					7																	151927076		2199	4278	6477	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151927076C>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2908G>T	7.37:g.151927076C>A	ENSP00000262189:p.Ala970Ser					MLL3_uc003wkz.2_Missense_Mutation_p.A31S	p.A970S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	18	3127	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	970			PHD-type 4.		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2908G>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.39|15.39	2.819156|2.819156	0.50633|0.50633	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000418673	D;D|.	0.87103|.	-2.21;-2.21|.	4.67|4.67	4.67|4.67	0.58626|0.58626	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.173442|.	0.26499|.	U|.	0.024024|.	T|T	0.48333|0.48333	0.1494|0.1494	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	P;D|.	0.53745|.	0.892;0.962|.	P;P|.	0.51016|.	0.492;0.656|.	T|T	0.44787|0.44787	-0.9305|-0.9305	10|5	0.28530|.	T|.	0.3|.	.|.	17.9348|17.9348	0.89009|0.89009	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	970;31|.	Q8NEZ4;Q8NEZ4-2|.	MLL3_HUMAN;.|.	S|I	970|125	ENSP00000262189:A970S;ENSP00000347325:A970S|.	ENSP00000262189:A970S|.	A|S	-|-	1|2	0|0	MLL3|MLL3	151558009|151558009	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	6.042000|6.042000	0.70996|0.70996	2.303000|2.303000	0.77524|0.77524	0.460000|0.460000	0.39030|0.39030	GCA|AGC		0.353	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			11	301	1	0	3.99206e-14	0.007413	4.9133e-14	11	301				
DPP6	1804	broad.mit.edu	37	7	154659728	154659728	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:154659728G>A	ENST00000377770.3	+	18	1879	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	RP11-476H24.1_ENST00000448767.1_RNA|DPP6_ENST00000404039.1_Missense_Mutation_p.E516K|DPP6_ENST00000427557.1_Missense_Mutation_p.E473K|DPP6_ENST00000332007.3_Missense_Mutation_p.E518K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	580					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGAAACAAATGAACATGTCAA	0.438																																					NSCLC(125;1384 1783 2490 7422 34254)	NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2		NA																	0				pancreas(3)|breast(1)	4						c.(1738-1740)GAA>AAA		dipeptidyl-peptidase 6 isoform 1							81.0	77.0	78.0					7																	154659728		1902	4137	6039	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154659728G>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1738G>A	7.37:g.154659728G>A	ENSP00000367001:p.Glu580Lys					DPP6_uc003wli.2_Missense_Mutation_p.E516K|DPP6_uc003wlm.2_Missense_Mutation_p.E518K|DPP6_uc011kvq.1_Missense_Mutation_p.E473K	p.E580K	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		18	1867	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	580			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.1738G>A		.	.	.	.	.	.	.	.	.	.	G	4.935	0.173634	0.09391	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.92	4.92	0.64577	.	0.286197	0.38959	N	0.001516	T	0.21267	0.0512	L	0.28274	0.84	0.37728	D	0.925159	B;B;B;B	0.13594	0.002;0.005;0.008;0.008	B;B;B;B	0.14023	0.002;0.01;0.006;0.004	T	0.10497	-1.0627	10	0.17832	T	0.49	-23.4639	13.1601	0.59540	0.0:0.0:0.8403:0.1597	.	473;518;580;516	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	K	516;580;518;473	ENSP00000385578:E516K;ENSP00000367001:E580K;ENSP00000328226:E518K;ENSP00000397303:E473K	ENSP00000328226:E518K	E	+	1	0	DPP6	154290661	0.997000	0.39634	0.233000	0.24025	0.038000	0.13279	1.980000	0.40618	2.271000	0.75665	0.655000	0.94253	GAA		0.438	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		4	19	0	0	0	0.000602	0	4	19				
XKR6	286046	broad.mit.edu	37	8	11058765	11058765	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:11058765G>A	ENST00000416569.2	-	1	110	c.84C>T	c.(82-84)ggC>ggT	p.G28G	XKR6_ENST00000297303.4_Silent_p.G28G|AF131215.8_ENST00000602443.1_lincRNA	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	28	Gly-rich.					integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CGTCCTCCTCGCCGCCGCTGC	0.716																																							uc003wtk.1		NA																	0				ovary(1)|skin(1)	2						c.(82-84)GGC>GGT		XK, Kell blood group complex subunit-related							6.0	5.0	5.0					8																	11058765		1639	3305	4944	SO:0001819	synonymous_variant	286046					integral to membrane		g.chr8:11058765G>A	BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.84C>T	8.37:g.11058765G>A							p.G28G	NM_173683	NP_775954	Q5GH73	XKR6_HUMAN		Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)	1	111	-			28			Gly-rich.		Q8TBA0	Silent	SNP	ENST00000416569.2	37	c.84C>T	CCDS5978.2																																																																																				0.716	XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683		4	10	0	0	0	0.001168	0	4	10				
LZTS1	11178	broad.mit.edu	37	8	20110540	20110540	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:20110540C>T	ENST00000381569.1	-	3	1259	c.902G>A	c.(901-903)cGc>cAc	p.R301H	LZTS1_ENST00000265801.6_Missense_Mutation_p.R301H|LZTS1_ENST00000522290.1_Missense_Mutation_p.R301H			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	301					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GTCCCTGCAGCGCCGCGGCCG	0.682																																							uc003wzr.2		NA																	0				ovary(1)	1						c.(901-903)CGC>CAC		leucine zipper, putative tumor suppressor 1							27.0	28.0	28.0					8																	20110540		2201	4293	6494	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20110540C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.902G>A	8.37:g.20110540C>T	ENSP00000370981:p.Arg301His					LZTS1_uc010ltg.1_Missense_Mutation_p.R301H	p.R301H	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	2	1013	-			301			Potential.		D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.902G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827507	0.32329	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.25250	2.13;2.13;1.81	5.52	5.52	0.82312	.	0.326008	0.34002	N	0.004357	T	0.43122	0.1233	L	0.60455	1.87	0.37823	D	0.928466	P;D	0.76494	0.921;0.999	B;P	0.59703	0.168;0.862	T	0.22487	-1.0215	10	0.21540	T	0.41	-40.6341	18.0071	0.89212	0.0:1.0:0.0:0.0	.	301;301	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	H	301	ENSP00000370981:R301H;ENSP00000265801:R301H;ENSP00000429263:R301H	ENSP00000265801:R301H	R	-	2	0	LZTS1	20154820	1.000000	0.71417	0.812000	0.32479	0.914000	0.54420	1.128000	0.31369	2.603000	0.88011	0.561000	0.74099	CGC		0.682	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		11	47	0	0	0	0.008291	0	11	47				
UNC5D	137970	broad.mit.edu	37	8	35579764	35579764	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:35579764G>T	ENST00000404895.2	+	9	1482	c.1154G>T	c.(1153-1155)gGc>gTc	p.G385V	UNC5D_ENST00000420357.1_Missense_Mutation_p.G318V|UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000416672.1_Missense_Mutation_p.G390V|UNC5D_ENST00000453357.2_Missense_Mutation_p.G380V|UNC5D_ENST00000287272.2_Missense_Mutation_p.G329V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	385					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTGTACTCGGGCTTGGGTGCT	0.522																																							uc003xjr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1153-1155)GGC>GTC		unc-5 homolog D precursor							251.0	222.0	232.0					8																	35579764		2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579764G>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1154G>T	8.37:g.35579764G>T	ENSP00000385143:p.Gly385Val					UNC5D_uc003xjs.1_Missense_Mutation_p.G380V|UNC5D_uc003xju.1_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.G143V	p.G385V	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1482	+			385			Helical; (Potential).		Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1154G>T	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395572	0.83011	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.69561	0.17;0.08;0.32;-0.41;0.15	5.71	5.71	0.89125	.	0.043513	0.85682	D	0.000000	D	0.83677	0.5306	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.85156	0.0989	10	0.87932	D	0	-22.8605	19.4428	0.94827	0.0:0.0:1.0:0.0	.	390;380;385	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	385;318;329;390;380	ENSP00000385143:G385V;ENSP00000392739:G318V;ENSP00000287272:G329V;ENSP00000412652:G390V;ENSP00000394303:G380V	ENSP00000287272:G329V	G	+	2	0	UNC5D	35699306	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	9.443000	0.97568	2.694000	0.91930	0.650000	0.86243	GGC		0.522	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	157	1	0	0.000274275	0.004482	0.000302648	8	157				
PRKDC	5591	broad.mit.edu	37	8	48752729	48752729	+	Silent	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:48752729T>C	ENST00000314191.2	-	56	7355	c.7299A>G	c.(7297-7299)gtA>gtG	p.V2433V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.V2433V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2434					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTCCAAACATACTTTTTGTC	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(7300-7302)GTA>GTG	NHEJ	protein kinase, DNA-activated, catalytic							43.0	43.0	43.0					8																	48752729		1807	4065	5872	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48752729T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7299A>G	8.37:g.48752729T>C						PRKDC_uc003xqj.2_Silent_p.V2434V|PRKDC_uc011ldh.1_Intron	p.V2434V	NM_006904	NP_008835	P78527	PRKDC_HUMAN			56	7359	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	2434					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.7302A>G																																																																																					0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		3	4	0	0	0	0.004672	0	3	4				
PENK	5179	broad.mit.edu	37	8	57354089	57354089	+	Silent	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:57354089C>G	ENST00000314922.3	-	2	622	c.546G>C	c.(544-546)gtG>gtC	p.V182V	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.V182V	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	182					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ATCTCTTGCTCACTTCTTCCT	0.517																																							uc003xsz.2		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(544-546)GTG>GTC		proenkephalin							136.0	139.0	138.0					8																	57354089		2203	4300	6503	SO:0001819	synonymous_variant	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57354089C>G		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.546G>C	8.37:g.57354089C>G						PENK_uc003xta.3_Silent_p.V182V	p.V182V	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	627	-		all_lung(136;0.229)	182					B2RC23|Q6FHC6|Q6FHE6	Silent	SNP	ENST00000314922.3	37	c.546G>C	CCDS6168.1																																																																																				0.517	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			40	78	0	0	0	0.00874	0	40	78				
TRPA1	8989	broad.mit.edu	37	8	72975736	72975736	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:72975736G>C	ENST00000262209.4	-	5	830	c.623C>G	c.(622-624)tCa>tGa	p.S208*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	208					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTTGGAACCTGAAAATGCAGC	0.328																																							uc003xza.2		NA																	0				ovary(4)|lung(1)|kidney(1)	6						c.(622-624)TCA>TGA		ankyrin-like protein 1	Menthol(DB00825)						99.0	96.0	97.0					8																	72975736		2203	4300	6503	SO:0001587	stop_gained	8989					integral to plasma membrane		g.chr8:72975736G>C	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.623C>G	8.37:g.72975736G>C	ENSP00000262209:p.Ser208*						p.S208*	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		5	798	-			208			ANK 5.|Cytoplasmic (Potential).		A6NIN6	Nonsense_Mutation	SNP	ENST00000262209.4	37	c.623C>G	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	G	36	5.948692	0.97134	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	.	.	.	5.62	5.62	0.85841	.	0.181927	0.49305	D	0.000152	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-15.9189	12.9203	0.58228	0.0751:0.0:0.9249:0.0	.	.	.	.	X	60;208	.	ENSP00000262209:S208X	S	-	2	0	TRPA1	73138290	1.000000	0.71417	0.991000	0.47740	0.996000	0.88848	5.193000	0.65120	2.800000	0.96347	0.650000	0.86243	TCA		0.328	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		22	20	0	0	0	0.004656	0	22	20				
SLC7A13	157724	broad.mit.edu	37	8	87229783	87229783	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:87229783G>A	ENST00000297524.3	-	3	1198	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Silent_p.F356F	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	365						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATGAACCCGTGAAAAAAATAT	0.338																																							uc003ydq.1		NA																	0				central_nervous_system(1)	1						c.(1093-1095)TTC>TTT		solute carrier family 7, (cationic amino acid							36.0	43.0	41.0					8																	87229783		2202	4296	6498	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229783G>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1095C>T	8.37:g.87229783G>A						SLC7A13_uc003ydr.1_Silent_p.F356F	p.F365F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1193	-			365			Helical; Name=10; (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.1095C>T	CCDS34917.1																																																																																				0.338	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		11	26	0	0	0	0.008291	0	11	26				
UBR5	51366	broad.mit.edu	37	8	103271226	103271226	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:103271226G>T	ENST00000520539.1	-	57	8694	c.8088C>A	c.(8086-8088)ttC>ttA	p.F2696L	KB-431C1.5_ENST00000606361.1_RNA|UBR5_ENST00000518205.1_Missense_Mutation_p.F424L|UBR5_ENST00000521922.1_Missense_Mutation_p.F2689L|UBR5_ENST00000220959.4_Missense_Mutation_p.F2695L	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2696	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATTCATCATTGAAAGAGGTAA	0.338																																					Ovarian(131;96 1741 5634 7352 27489)	Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1		NA																	0				lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(8086-8088)TTC>TTA		ubiquitin protein ligase E3 component n-recognin							83.0	85.0	84.0					8																	103271226		2203	4300	6503	SO:0001583	missense	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103271226G>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8088C>A	8.37:g.103271226G>T	ENSP00000429084:p.Phe2696Leu					UBR5_uc003yks.1_Missense_Mutation_p.F2695L|UBR5_uc003ykq.2_Missense_Mutation_p.F207L	p.F2696L	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		57	8121	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2696			HECT.		B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	37	c.8088C>A	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.938866	0.92526	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.73	4.85	0.62838	HECT (4);	0.000000	0.85682	D	0.000000	T	0.62344	0.2420	M	0.67397	2.05	0.58432	D	0.999996	D;D	0.62365	0.991;0.991	D;D	0.73708	0.981;0.981	T	0.66602	-0.5882	10	0.87932	D	0	.	14.5982	0.68422	0.07:0.0:0.93:0.0	.	2689;2696	E7EMW7;O95071	.;UBR5_HUMAN	L	2696;2695;424;2689	ENSP00000429084:F2696L;ENSP00000220959:F2695L;ENSP00000428693:F424L;ENSP00000427819:F2689L	ENSP00000220959:F2695L	F	-	3	2	UBR5	103340402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.407000	0.73280	1.410000	0.46936	0.655000	0.94253	TTC		0.338	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		12	28	1	0	3.07112e-06	0.010729	3.44827e-06	12	28				
CSMD3	114788	broad.mit.edu	37	8	113299453	113299453	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:113299453G>A	ENST00000297405.5	-	58	9415	c.9171C>T	c.(9169-9171)ggC>ggT	p.G3057G	CSMD3_ENST00000352409.3_Silent_p.G2987G|CSMD3_ENST00000455883.2_Silent_p.G2888G|CSMD3_ENST00000343508.3_Silent_p.G3017G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3057	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTGGATCGCCACATGTCC	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(9169-9171)GGC>GGT		CUB and Sushi multiple domains 3 isoform 1							108.0	99.0	102.0					8																	113299453		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113299453G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9171C>T	8.37:g.113299453G>A		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.G2259G|CSMD3_uc003ynt.2_Silent_p.G3017G|CSMD3_uc011lhx.1_Silent_p.G2888G	p.G3057G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			58	9330	-			3057			Extracellular (Potential).|Sushi 22.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.9171C>T	CCDS6315.1																																																																																				0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		12	135	0	0	0	0.00245	0	12	135				
CSMD3	114788	broad.mit.edu	37	8	113318320	113318320	+	Silent	SNP	G	G	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:113318320G>T	ENST00000297405.5	-	51	8231	c.7987C>A	c.(7987-7989)Cga>Aga	p.R2663R	CSMD3_ENST00000352409.3_Silent_p.R2593R|CSMD3_ENST00000455883.2_Silent_p.R2559R|CSMD3_ENST00000343508.3_Silent_p.R2623R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2663	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GATGACAATCGATATCCATCA	0.418										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7987-7989)CGA>AGA		CUB and Sushi multiple domains 3 isoform 1							202.0	182.0	189.0					8																	113318320		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113318320G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7987C>A	8.37:g.113318320G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.R1865R|CSMD3_uc003ynt.2_Silent_p.R2623R|CSMD3_uc011lhx.1_Silent_p.R2559R	p.R2663R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8146	-			2663			Extracellular (Potential).|Sushi 15.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.7987C>A	CCDS6315.1																																																																																				0.418	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		31	76	1	0	5.90632e-09	0.012213	6.8937e-09	31	76				
CSMD3	114788	broad.mit.edu	37	8	113331153	113331153	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:113331153G>A	ENST00000297405.5	-	47	7517	c.7273C>T	c.(7273-7275)Cca>Tca	p.P2425S	CSMD3_ENST00000352409.3_Missense_Mutation_p.P2355S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2321S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P2385S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2425	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAAATCCTGGAAGACACTGA	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7273-7275)CCA>TCA		CUB and Sushi multiple domains 3 isoform 1							96.0	88.0	91.0					8																	113331153		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113331153G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7273C>T	8.37:g.113331153G>A	ENSP00000297405:p.Pro2425Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1627S|CSMD3_uc003ynt.2_Missense_Mutation_p.P2385S|CSMD3_uc011lhx.1_Missense_Mutation_p.P2321S|CSMD3_uc003ynw.1_Missense_Mutation_p.P136S	p.P2425S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			47	7432	-			2425			Extracellular (Potential).|Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7273C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	31	5.102851	0.94245	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	5.69	5.69	0.88448	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.77611	0.4156	M	0.62088	1.915	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.969	D;D;D	0.97110	0.999;1.0;0.918	T	0.72663	-0.4225	10	0.29301	T	0.29	.	19.8057	0.96531	0.0:0.0:1.0:0.0	.	2321;2425;2385	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	2385;2425;1695;2321;2355	ENSP00000345799:P2385S;ENSP00000297405:P2425S;ENSP00000341558:P1695S;ENSP00000412263:P2321S;ENSP00000343124:P2355S	ENSP00000297405:P2425S	P	-	1	0	CSMD3	113400329	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.462000	0.97649	2.701000	0.92244	0.478000	0.44815	CCA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		4	33	0	0	0	0.009096	0	4	33				
TATDN1	83940	broad.mit.edu	37	8	125498769	125498769	+	IGR	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:125498769C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.G293G|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTACTGGGCATGAGTGCTG	0.408																																							uc003yrc.2		NA																	0				kidney(1)	1						c.(877-879)GGC>GGT		ring finger protein 139							96.0	89.0	92.0					8																	125498769		2203	4300	6503	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498769C>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498769C>T							p.G293G	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1222	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		293			Helical; (Potential).		B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	c.879C>T	CCDS6351.1																																																																																				0.408	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		11	157	0	0	0	0.001855	0	11	157				
TG	7038	broad.mit.edu	37	8	133880403	133880403	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:133880403G>C	ENST00000220616.4	+	2	151	c.111G>C	c.(109-111)caG>caC	p.Q37H	TG_ENST00000377869.1_Missense_Mutation_p.Q37H	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	37	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGAGCTGCAGAGGGAAACGG	0.547																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(109-111)CAG>CAC		thyroglobulin precursor							119.0	102.0	108.0					8																	133880403		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880403G>C	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.111G>C	8.37:g.133880403G>C	ENSP00000220616:p.Gln37His						p.Q37H	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	2	152	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	37			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.111G>C	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441627	0.63067	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63417	-0.04;-0.04	5.38	3.18	0.36537	Thyroglobulin type-1 (3);	0.227351	0.31071	N	0.008315	T	0.70168	0.3193	L	0.55990	1.75	0.23923	N	0.996455	D	0.89917	1.0	D	0.72982	0.979	T	0.60296	-0.7291	10	0.87932	D	0	.	7.1938	0.25841	0.3177:0.0:0.6823:0.0	.	37	P01266	THYG_HUMAN	H	37	ENSP00000367100:Q37H;ENSP00000220616:Q37H	ENSP00000220616:Q37H	Q	+	3	2	TG	133949585	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.411000	0.44600	0.410000	0.25675	0.462000	0.41574	CAG		0.547	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		13	114	0	0	0	0.00245	0	13	114				
TG	7038	broad.mit.edu	37	8	133883613	133883613	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:133883613C>A	ENST00000220616.4	+	4	335	c.295C>A	c.(295-297)Cag>Aag	p.Q99K	TG_ENST00000377869.1_Missense_Mutation_p.Q99K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	99	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGTCAGCTACAGAAACAGCA	0.502																																							uc003ytw.2		NA																	0				ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(295-297)CAG>AAG		thyroglobulin precursor							185.0	161.0	169.0					8																	133883613		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883613C>A	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.295C>A	8.37:g.133883613C>A	ENSP00000220616:p.Gln99Lys						p.Q99K	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	4	336	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	99			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.295C>A	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.125093	0.37533	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.63096	-0.02;-0.02	5.58	5.58	0.84498	Thyroglobulin type-1 (3);	0.298986	0.28841	N	0.013973	T	0.64034	0.2562	M	0.69185	2.1	0.36488	D	0.868233	P	0.35050	0.482	B	0.35655	0.207	T	0.73282	-0.4032	10	0.72032	D	0.01	.	16.7298	0.85432	0.0:1.0:0.0:0.0	.	99	P01266	THYG_HUMAN	K	99	ENSP00000367100:Q99K;ENSP00000220616:Q99K	ENSP00000220616:Q99K	Q	+	1	0	TG	133952795	1.000000	0.71417	0.995000	0.50966	0.161000	0.22273	3.956000	0.56722	2.630000	0.89119	0.460000	0.39030	CAG		0.502	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		20	227	1	0	1.64113e-05	0.010504	1.8373e-05	20	227				
BAI1	575	broad.mit.edu	37	8	143603424	143603424	+	Silent	SNP	G	G	T	rs375392590		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:143603424G>T	ENST00000517894.1	+	21	4017	c.3123G>T	c.(3121-3123)acG>acT	p.T1041T	BAI1_ENST00000323289.5_Silent_p.T1041T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1041					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGCGGTGACGGGCCACCTCC	0.667																																							uc003ywm.2		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(3121-3123)ACG>ACT		brain-specific angiogenesis inhibitor 1							36.0	44.0	42.0					8																	143603424		2196	4300	6496	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603424G>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3123G>T	8.37:g.143603424G>T							p.T1041T	NM_001702	NP_001693	O14514	BAI1_HUMAN			20	3306	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1041			Cytoplasmic (Potential).			Silent	SNP	ENST00000517894.1	37	c.3123G>T																																																																																					0.667	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		8	24	1	0	0.000673444	0.008291	0.000736759	8	24				
SLC52A2	79581	broad.mit.edu	37	8	145583767	145583767	+	Silent	SNP	C	C	T	rs549377529	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:145583767C>T	ENST00000532887.1	+	3	1198	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SLC52A2_ENST00000540505.1_Silent_p.V117V|SLC52A2_ENST00000329994.2_Silent_p.V205V|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000402965.1_Silent_p.V205V|SLC52A2_ENST00000530047.1_Silent_p.V205V|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.V205V|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	205					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CCCTTCTGGTCGCTTCAGCTG	0.652													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16872	0.0		0.0	False		,,,				2504	0.0						uc003zcc.1		NA																	0					0						c.(613-615)GTC>GTT		G protein-coupled receptor 172A precursor							59.0	60.0	60.0					8																	145583767		2203	4298	6501	SO:0001819	synonymous_variant	79581					integral to plasma membrane	receptor activity|riboflavin transporter activity	g.chr8:145583767C>T	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.615C>T	8.37:g.145583767C>T						FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.V205V|GPR172A_uc003zce.1_Silent_p.V205V|GPR172A_uc010mfy.1_Silent_p.V205V|GPR172A_uc003zcf.1_Silent_p.V205V|GPR172A_uc011llc.1_Silent_p.V117V	p.V205V	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		3	772	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		205			Helical; (Potential).		A8K6B6|D3DWL8|G1UCY1|Q86UT1	Silent	SNP	ENST00000532887.1	37	c.615C>T	CCDS6423.1																																																																																				0.652	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531		15	84	0	0	0	0.004007	0	15	84				
TRPM3	80036	broad.mit.edu	37	9	73152282	73152282	+	Silent	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:73152282C>T	ENST00000377111.2	-	25	3954	c.3711G>A	c.(3709-3711)gaG>gaA	p.E1237E	TRPM3_ENST00000357533.2_Silent_p.E1241E|TRPM3_ENST00000396285.1_Silent_p.E1096E|TRPM3_ENST00000423814.3_Silent_p.E1264E|TRPM3_ENST00000396292.4_Silent_p.E1109E|TRPM3_ENST00000377105.1_Silent_p.E1096E|TRPM3_ENST00000377110.3_Silent_p.E1237E|TRPM3_ENST00000360823.2_Silent_p.E1099E|TRPM3_ENST00000377106.1_Silent_p.E1109E|TRPM3_ENST00000408909.2_Silent_p.E1096E|TRPM3_ENST00000396280.5_Silent_p.E1086E|TRPM3_ENST00000358082.3_Silent_p.E1099E	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1262					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGTGCTCTCTCTCGTTGACTT	0.602																																							uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3709-3711)GAG>GAA		transient receptor potential cation channel,							39.0	32.0	34.0					9																	73152282		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73152282C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3711G>A	9.37:g.73152282C>T						TRPM3_uc004ahu.2_Silent_p.E1079E|TRPM3_uc004ahv.2_Silent_p.E1039E|TRPM3_uc004ahw.2_Silent_p.E1109E|TRPM3_uc004ahx.2_Silent_p.E1096E|TRPM3_uc004ahy.2_Silent_p.E1099E|TRPM3_uc004ahz.2_Silent_p.E1086E|TRPM3_uc004aia.2_Silent_p.E1084E|TRPM3_uc004aib.2_Silent_p.E1074E|TRPM3_uc004aic.2_Silent_p.E1237E	p.E1237E	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			25	3955	-			1262			Cytoplasmic (Potential).|Potential.		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.3711G>A		.	.	.	.	.	.	.	.	.	.	C	10.22	1.290514	0.23478	.	.	ENSG00000083067	ENST00000396280	T	0.50277	0.75	6.17	3.38	0.38709	.	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57394	-0.7819	7	0.56958	D	0.05	-28.5543	10.078	0.42373	0.0:0.7384:0.0:0.2616	.	.	.	.	K	1086	ENSP00000379576:E1086K	ENSP00000379576:E1086K	E	-	1	0	TRPM3	72342102	0.485000	0.25972	0.990000	0.47175	0.997000	0.91878	0.080000	0.14802	0.948000	0.37687	0.655000	0.94253	GAG		0.602	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		14	25	0	0	0	0.003163	0	14	25				
TRPM6	140803	broad.mit.edu	37	9	77415379	77415379	+	Silent	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:77415379G>A	ENST00000360774.1	-	17	2266	c.2029C>T	c.(2029-2031)Ctg>Ttg	p.L677L	TRPM6_ENST00000361255.3_Silent_p.L672L|TRPM6_ENST00000451710.3_Silent_p.L677L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L677L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Silent_p.L672L|RN7SKP47_ENST00000365347.1_RNA	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	677					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AACAAGTCCAGAGCCAGCTGG	0.458																																							uc004ajl.1		NA																	0				lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(2029-2031)CTG>TTG		transient receptor potential cation channel,							73.0	65.0	68.0					9																	77415379		2203	4300	6503	SO:0001819	synonymous_variant	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77415379G>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2029C>T	9.37:g.77415379G>A						TRPM6_uc004ajk.1_Silent_p.L672L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Silent_p.L55L	p.L677L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			17	2267	-			677			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	c.2029C>T	CCDS6647.1																																																																																				0.458	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		7	37	0	0	0	0.001984	0	7	37				
PRUNE2	158471	broad.mit.edu	37	9	79320553	79320553	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:79320553C>G	ENST00000376718.3	-	8	6760	c.6637G>C	c.(6637-6639)Gat>Cat	p.D2213H	PRUNE2_ENST00000428286.1_Missense_Mutation_p.D1854H	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2213					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTGCCATATCTGGGCTGGCT	0.448																																							uc010mpk.2		NA																	0					0						c.(6637-6639)GAT>CAT		prune homolog 2							115.0	109.0	111.0					9																	79320553		1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320553C>G	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6637G>C	9.37:g.79320553C>G	ENSP00000365908:p.Asp2213His					PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank	p.D2213H	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN			8	6761	-			2213					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.6637G>C	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.38|17.38	3.373883|3.373883	0.61624|0.61624	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.46451|.	0.88;0.87|.	5.57|5.57	4.67|4.67	0.58626|0.58626	.|.	0.977693|.	0.08332|.	N|.	0.962239|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.51422|0.51422	1.61|1.61	0.52501|0.52501	D|D	0.999958|0.999958	P|.	0.49961|.	0.93|.	P|.	0.50231|.	0.635|.	T|T	0.58645|0.58645	-0.7600|-0.7600	10|5	0.87932|.	D|.	0|.	-3.7883|-3.7883	12.7004|12.7004	0.57029|0.57029	0.0:0.9237:0.0:0.0763|0.0:0.9237:0.0:0.0763	.|.	2213|.	Q8WUY3|.	PRUN2_HUMAN|.	H|T	2213;1854;2212|1534	ENSP00000365908:D2213H;ENSP00000397425:D1854H|.	ENSP00000365908:D2213H|.	D|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78510373|78510373	0.000000|0.000000	0.05858|0.05858	0.079000|0.079000	0.20413|0.20413	0.117000|0.117000	0.20001|0.20001	0.181000|0.181000	0.16880|0.16880	1.354000|1.354000	0.45846|0.45846	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.448	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818		24	66	0	0	0	0.004656	0	24	66				
IDNK	414328	broad.mit.edu	37	9	86258488	86258488	+	Silent	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:86258488C>G	ENST00000376419.4	+	5	361	c.357C>G	c.(355-357)ctC>ctG	p.L119L	IDNK_ENST00000277124.8_Silent_p.L73L|IDNK_ENST00000454393.1_Silent_p.L162L|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	119					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										AGATGCAGCTCCTGGTGGTCC	0.478																																							uc004amu.1		NA																	0					0						c.(355-357)CTC>CTG		gluconokinase-like protein							90.0	87.0	88.0					9																	86258488		2203	4300	6503	SO:0001819	synonymous_variant	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258488C>G	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	ENST00000376419.4:c.357C>G	9.37:g.86258488C>G						C9orf103_uc004amt.1_Silent_p.L73L|C9orf103_uc010mpv.1_Silent_p.L73L	p.L119L	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN			5	371	+			119					A5PLN6|Q5T6J6	Silent	SNP	ENST00000376419.4	37	c.357C>G	CCDS35048.2																																																																																				0.478	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	NM_001001551		16	47	0	0	0	0.004007	0	16	47				
KIAA0368	23392	broad.mit.edu	37	9	114133964	114133964	+	Silent	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:114133964T>C	ENST00000338205.5	-	42	4893	c.4674A>G	c.(4672-4674)ccA>ccG	p.P1558P	KIAA0368_ENST00000374378.3_Silent_p.P22P|KIAA0368_ENST00000259335.4_Silent_p.P1736P|KIAA0368_ENST00000465499.1_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	1564					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTCCGAGATATGGAGGTACTA	0.483																																							uc004bfe.1		NA																	0					0						c.(5206-5208)CCA>CCG		KIAA0368 protein							213.0	201.0	205.0					9																	114133964		1911	4130	6041	SO:0001819	synonymous_variant	23392							g.chr9:114133964T>C	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4674A>G	9.37:g.114133964T>C							p.P1736P	NM_001080398	NP_001073867					44	5208	-								O15074|Q8WU82	Silent	SNP	ENST00000338205.5	37	c.5208A>G																																																																																					0.483	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		78	88	0	0	0	0.01441	0	78	88				
LHX6	26468	broad.mit.edu	37	9	124989209	124989209	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:124989209G>A	ENST00000373755.2	-	2	278	c.170C>T	c.(169-171)tCt>tTt	p.S57F	LHX6_ENST00000373754.2_Missense_Mutation_p.S57F|LHX6_ENST00000394319.4_Missense_Mutation_p.S86F|LHX6_ENST00000559529.1_5'Flank|LHX6_ENST00000541397.2_Missense_Mutation_p.S75F|LHX6_ENST00000340587.3_Missense_Mutation_p.S86F	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	57	Required for interaction with LDB1. {ECO:0000250}.				cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						GGAGGCGGCAGAGGGCGGTGA	0.647																																							uc010mvw.2		NA																	0					0						c.(169-171)TCT>TTT		LIM homeobox protein 6 isoform 1							70.0	50.0	57.0					9																	124989209		2190	4285	6475	SO:0001583	missense	26468				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:124989209G>A	AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.170C>T	9.37:g.124989209G>A	ENSP00000362860:p.Ser57Phe					LHX6_uc004blx.3_Missense_Mutation_p.S86F|LHX6_uc004bly.3_Missense_Mutation_p.S86F	p.S57F	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN			2	279	-			57			Required for interaction with LBD1 (By similarity).		A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Missense_Mutation	SNP	ENST00000373755.2	37	c.170C>T	CCDS56583.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141403	0.77775	.	.	ENSG00000106852	ENST00000373755;ENST00000373754;ENST00000394319;ENST00000340587;ENST00000541397	D;D;D;D;D	0.88975	-2.45;-2.42;-2.34;-2.3;-2.31	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	L	0.32530	0.975	0.80722	D	1	P;D;D	0.57257	0.917;0.979;0.971	P;P;P	0.58454	0.603;0.839;0.779	D	0.91372	0.5120	10	0.66056	D	0.02	.	18.2464	0.89988	0.0:0.0:1.0:0.0	.	57;86;86	Q9UPM6;Q9UPM6-4;Q9UPM6-3	LHX6_HUMAN;.;.	F	57;57;86;86;75	ENSP00000362860:S57F;ENSP00000362859:S57F;ENSP00000377854:S86F;ENSP00000340137:S86F;ENSP00000441464:S75F	ENSP00000340137:S86F	S	-	2	0	LHX6	124029030	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.029000	0.76477	2.541000	0.85698	0.462000	0.41574	TCT		0.647	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053924.2	NM_014368		5	1	0	0	0	0.000602	0	5	1				
SCAI	286205	broad.mit.edu	37	9	127904938	127904938	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:127904938C>G	ENST00000336505.6	-	2	130	c.72G>C	c.(70-72)gaG>gaC	p.E24D	SCAI_ENST00000373549.4_Missense_Mutation_p.E24D	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	24	Necessary to inhibit MKL1-induced SRF transcriptional activity. {ECO:0000250}.				negative regulation of cell migration (GO:0030336)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GAGGCGGTTTCTCCACTGTGC	0.463																																							uc004bpe.2		NA																	0				ovary(2)|breast(2)|central_nervous_system(1)	5						c.(70-72)GAG>GAC		suppressor of cancer cell invasion isoform 2							84.0	89.0	87.0					9																	127904938		1926	4126	6052	SO:0001583	missense	286205				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	g.chr9:127904938C>G	AK093983	CCDS43877.1, CCDS48017.1	9q34.11	2009-11-06	2009-07-09	2009-07-09	ENSG00000173611	ENSG00000173611			26709	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 126"""	C9orf126			Standard	NM_173690		Approved	FLJ36664, NET40	uc004bpd.3	Q8N9R8	OTTHUMG00000020667	ENST00000336505.6:c.72G>C	9.37:g.127904938C>G	ENSP00000336756:p.Glu24Asp					SCAI_uc004bpd.2_Missense_Mutation_p.E24D|SCAI_uc010mwu.2_RNA	p.E24D	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN			2	153	-			24			Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).		Q3SXZ1|Q3SXZ2|Q5T163|Q8N1I4	Missense_Mutation	SNP	ENST00000336505.6	37	c.72G>C	CCDS48017.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633567	0.47049	.	.	ENSG00000173611	ENST00000336505;ENST00000373549	T;T	0.55413	0.93;0.52	4.19	3.2	0.36748	.	0.214190	0.23521	N	0.047294	T	0.30355	0.0762	N	0.08118	0	0.24980	N	0.991601	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.28459	-1.0043	10	0.87932	D	0	-0.7471	9.3524	0.38147	0.0:0.7805:0.2195:0.0	.	24;24	Q8N9R8;Q8N9R8-2	SCAI_HUMAN;.	D	24	ENSP00000336756:E24D;ENSP00000362650:E24D	ENSP00000336756:E24D	E	-	3	2	SCAI	126944759	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.243000	0.32767	2.042000	0.60477	0.313000	0.20887	GAG		0.463	SCAI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054055.3	NM_173690		4	32	0	0	0	0.009096	0	4	32				
FNBP1	23048	broad.mit.edu	37	9	132687277	132687277	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:132687277A>C	ENST00000446176.2	-	9	1135	c.949T>G	c.(949-951)Tcc>Gcc	p.S317A	FNBP1_ENST00000420781.1_Missense_Mutation_p.S317A|FNBP1_ENST00000355681.3_Missense_Mutation_p.S317A|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	317	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTTCCTTTGGATTTGCCACCA	0.403			T	MLL	AML																																		uc004byw.1		NA		Dom	yes		9	9q23	23048	T	formin binding protein 1 (FBP17)			L	MLL		AML		0					0						c.(949-951)TCC>GCC		formin binding protein 1							126.0	120.0	122.0					9																	132687277		1865	4102	5967	SO:0001583	missense	23048				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding	g.chr9:132687277A>C	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.949T>G	9.37:g.132687277A>C	ENSP00000413625:p.Ser317Ala					FNBP1_uc011mbv.1_Missense_Mutation_p.S317A|FNBP1_uc011mbw.1_Missense_Mutation_p.S317A|FNBP1_uc004bza.2_Missense_Mutation_p.S317A|FNBP1_uc004byz.1_Missense_Mutation_p.S317A|FNBP1_uc004byx.1_Missense_Mutation_p.S238A|FNBP1_uc004byy.1_Missense_Mutation_p.S238A	p.S317A	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN		GBM - Glioblastoma multiforme(294;0.0378)	9	1168	-		Ovarian(14;0.000536)	317			Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	ENST00000446176.2	37	c.949T>G	CCDS48040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.837|9.837	1.190092|1.190092	0.21954|0.21954	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000449089|ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	.|T;T;T	.|0.75367	.|-0.93;-0.93;-0.93	5.34|5.34	-0.338|-0.338	0.12651|0.12651	.|.	.|0.356257	.|0.32002	.|N	.|0.006723	T|T	0.53690|0.53690	0.1812|0.1812	L|L	0.31926|0.31926	0.97|0.97	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.09022	.|0.0;0.001;0.001;0.0;0.0;0.0;0.002	.|B;B;B;B;B;B;B	.|0.10450	.|0.001;0.005;0.003;0.001;0.005;0.001;0.003	T|T	0.18461|0.18461	-1.0336|-1.0336	5|10	.|0.22109	.|T	.|0.4	-16.3379|-16.3379	3.306|3.306	0.07000|0.07000	0.5363:0.2646:0.0718:0.1274|0.5363:0.2646:0.0718:0.1274	.|.	.|317;317;317;317;278;317;317	.|B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.|.;.;.;.;.;.;FNBP1_HUMAN	K|A	278|317	.|ENSP00000413625:S317A;ENSP00000407548:S317A;ENSP00000347907:S317A	.|ENSP00000347907:S317A	N|S	-|-	3|1	2|0	FNBP1|FNBP1	131727098|131727098	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.983000|0.983000	0.72400|0.72400	1.015000|1.015000	0.29963|0.29963	0.058000|0.058000	0.16222|0.16222	0.379000|0.379000	0.24179|0.24179	AAT|TCC		0.403	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054630.2			7	20	0	0	0	0.00308	0	7	20				
TBL1X	6907	broad.mit.edu	37	X	9679741	9679741	+	Silent	SNP	C	C	T	rs139999402		TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:9679741C>T	ENST00000217964.7	+	16	2170	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	TBL1X_ENST00000536365.1_Silent_p.S459S|TBL1X_ENST00000424279.1_Silent_p.S459S|TBL1X_ENST00000380961.1_Silent_p.S459S|TBL1X_ENST00000407597.2_Silent_p.S510S	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	510					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTGTCTATAGCGTAGCTTTCA	0.532																																							uc010ndq.2		NA																	0				ovary(1)	1						c.(1528-1530)AGC>AGT		transducin beta-like 1X isoform a		C	,,,	2,3833		0,1,1,1631,570	157.0	110.0	126.0		1530,1377,1377,1530	-6.8	0.1	X	dbSNP_134	126	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TBL1X	NM_001139466.1,NM_001139467.1,NM_001139468.1,NM_005647.3	,,,	0,1,1,4059,2442	TT,TC,T,CC,C		0.0,0.0522,0.0189	,,,	510/578,459/527,459/527,510/578	9679741	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	6907				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:9679741C>T	Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1530C>T	X.37:g.9679741C>T						TBL1X_uc004csq.3_Silent_p.S459S|TBL1X_uc010ndr.2_Silent_p.S459S|TBL1X_uc004csr.2_Silent_p.S510S|TBL1X_uc004css.2_Silent_p.S461S	p.S510S	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN			16	1898	+		Hepatocellular(5;0.000888)	510			WD 7.		A8K044|A8K4J7|Q86UY2	Silent	SNP	ENST00000217964.7	37	c.1530C>T	CCDS14133.1																																																																																				0.532	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055709.1	NM_005647		25	8	0	0	0	0.00278	0	25	8				
MSL3	10943	broad.mit.edu	37	X	11778578	11778578	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:11778578G>C	ENST00000312196.4	+	3	347	c.242G>C	c.(241-243)aGa>aCa	p.R81T	MSL3_ENST00000337339.2_Missense_Mutation_p.R81T|MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000398527.2_Missense_Mutation_p.R69T|MSL3_ENST00000361672.2_5'UTR	NM_078629.3	NP_523353.2	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	81	Chromo.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|multicellular organismal development (GO:0007275)|transcription from RNA polymerase II promoter (GO:0006366)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GAAAATCGTAGATTACAGCGT	0.348																																							uc004cuw.2		NA																	0				ovary(1)	1						c.(241-243)AGA>ACA		male-specific lethal 3-like 1 isoform a							82.0	74.0	77.0					X																	11778578		2203	4300	6503	SO:0001583	missense	10943				histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity	g.chrX:11778578G>C	AF117065	CCDS14147.1, CCDS14148.1, CCDS14149.1, CCDS55369.1, CCDS65213.1	Xp22.3	2008-10-29	2008-10-29	2008-10-29	ENSG00000005302	ENSG00000005302			7370	protein-coding gene	gene with protein product		300609	"""male-specific lethal-3 (Drosophila)-like 1"", ""male-specific lethal 3-like 1 (Drosophila)"""	MSL3L1		10395802, 10908644	Standard	NM_078628		Approved		uc004cuw.3	Q8N5Y2	OTTHUMG00000021132	ENST00000312196.4:c.242G>C	X.37:g.11778578G>C	ENSP00000312244:p.Arg81Thr					MSL3_uc004cuv.1_Missense_Mutation_p.R81T|MSL3_uc004cux.2_Missense_Mutation_p.R22T|MSL3_uc011mig.1_5'UTR|MSL3_uc011mih.1_Missense_Mutation_p.R69T|MSL3_uc004cuy.2_5'UTR|MSL3_uc011mii.1_5'UTR	p.R81T	NM_078629	NP_523353	Q8N5Y2	MS3L1_HUMAN			3	347	+			81			Chromo.		A6NCU2|A6NHW8|A8K165|B4DUV8|B7Z227|Q9UG70|Q9Y5Z8	Missense_Mutation	SNP	ENST00000312196.4	37	c.242G>C	CCDS14147.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.252624	0.59212	.	.	ENSG00000005302	ENST00000312196;ENST00000337339;ENST00000421368;ENST00000398527	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	4.81	4.81	0.61882	Chromo domain-like (1);Chromo domain/shadow (1);	0.267747	0.37219	N	0.002194	T	0.44850	0.1313	L	0.27053	0.805	0.35987	D	0.836419	D;D;P;D	0.57257	0.979;0.969;0.948;0.979	P;P;P;P	0.55824	0.702;0.785;0.614;0.702	T	0.52147	-0.8614	10	0.33940	T	0.23	.	15.576	0.76387	0.0:0.0:1.0:0.0	.	69;22;81;81	B4DUV8;Q8N5Y2-2;Q8N5Y2;A6NHW8	.;.;MS3L1_HUMAN;.	T	81;81;69;69	ENSP00000312244:R81T;ENSP00000338078:R81T;ENSP00000401809:R69T;ENSP00000381538:R69T	ENSP00000312244:R81T	R	+	2	0	MSL3	11688499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.052000	0.64263	2.123000	0.65237	0.600000	0.82982	AGA		0.348	MSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055757.1	NM_006800		21	15	0	0	0	0.012319	0	21	15				
WDR45	11152	broad.mit.edu	37	X	48933333	48933333	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:48933333G>A	ENST00000376372.3	-	8	777	c.596C>T	c.(595-597)tCt>tTt	p.S199F	AF196779.12_ENST00000376358.3_Missense_Mutation_p.S97F|WDR45_ENST00000356463.3_Missense_Mutation_p.S200F|PRAF2_ENST00000376390.4_5'Flank|WDR45_ENST00000396681.4_Missense_Mutation_p.S199F|WDR45_ENST00000485908.1_Missense_Mutation_p.S164F|PRAF2_ENST00000376386.3_5'Flank|WDR45_ENST00000553851.1_Missense_Mutation_p.S97F|WDR45_ENST00000473974.1_Missense_Mutation_p.S199F|PRAF2_ENST00000491199.1_5'Flank|WDR45_ENST00000322995.8_Missense_Mutation_p.S210F|WDR45_ENST00000465431.1_5'Flank|WDR45_ENST00000376368.2_Missense_Mutation_p.S200F	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	199					autophagy (GO:0006914)|cell death (GO:0008219)					NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTGGTTTAGAGACACACAGGC	0.562																																							uc004dmk.1		NA																	0				ovary(1)	1						c.(595-597)TCT>TTT		WD repeat domain 45 isoform 2							52.0	42.0	45.0					X																	48933333		2203	4300	6503	SO:0001583	missense	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48933333G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.596C>T	X.37:g.48933333G>A	ENSP00000365551:p.Ser199Phe					PRAF2_uc004dmi.2_5'Flank|PRAF2_uc011mmt.1_Missense_Mutation_p.S97F|WDR45_uc004dmj.1_Missense_Mutation_p.S160F|WDR45_uc004dml.1_Missense_Mutation_p.S200F|WDR45_uc004dmm.1_Missense_Mutation_p.S164F|WDR45_uc010nim.1_Missense_Mutation_p.S199F|WDR45_uc004dmn.1_Missense_Mutation_p.S90F|WDR45_uc004dmo.1_Missense_Mutation_p.S222F|WDR45_uc004dmp.1_Missense_Mutation_p.S200F	p.S199F	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			8	768	-			199			WD 2.		A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Missense_Mutation	SNP	ENST00000376372.3	37	c.596C>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542034	0.65198	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000475977;ENST00000471338;ENST00000475880;ENST00000376358	T;T;T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-0.01;-1.39;-1.39;-1.39	3.76	3.76	0.43208	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.136500	0.47852	D	0.000213	D	0.86719	0.6000	M	0.63843	1.955	0.43947	D	0.99661	D;P;P;P;P;P	0.71674	0.998;0.858;0.725;0.703;0.508;0.794	D;P;B;B;P;P	0.65874	0.939;0.683;0.431;0.438;0.5;0.617	D	0.88581	0.3136	10	0.87932	D	0	-13.3143	14.37	0.66833	0.0:0.0:1.0:0.0	.	97;199;210;164;200;199	A6NM71;C9J471;Q9Y484-2;C9JYH8;Q9Y484-3;Q9Y484	.;.;.;.;.;WIPI4_HUMAN	F	97;199;210;200;164;199;200;199;27;132;165;97	ENSP00000451962:S97F;ENSP00000365551:S199F;ENSP00000365543:S210F;ENSP00000348848:S200F;ENSP00000419897:S164F;ENSP00000417211:S199F;ENSP00000365546:S200F;ENSP00000379913:S199F;ENSP00000417754:S27F;ENSP00000418466:S132F;ENSP00000418919:S165F;ENSP00000365536:S97F	ENSP00000365536:S97F	S	-	2	0	AF196779.12;WDR45	48820277	1.000000	0.71417	0.924000	0.36721	0.733000	0.41908	7.189000	0.77747	1.814000	0.52955	0.409000	0.27619	TCT		0.562	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		7	3	0	0	0	0.001984	0	7	3				
TRO	7216	broad.mit.edu	37	X	54956769	54956769	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:54956769C>A	ENST00000173898.7	+	12	3724	c.3612C>A	c.(3610-3612)agC>agA	p.S1204R	TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.S807R|TRO_ENST00000420798.2_Missense_Mutation_p.S735R	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1204	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGGGTTAAGCACCAATGCTG	0.552																																							uc004dtq.2		NA																	0				ovary(1)	1						c.(3610-3612)AGC>AGA		trophinin isoform 5							61.0	60.0	60.0					X																	54956769		2042	4174	6216	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54956769C>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3612C>A	X.37:g.54956769C>A	ENSP00000173898:p.Ser1204Arg					TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.S735R|TRO_uc004dtw.2_Missense_Mutation_p.S807R|TRO_uc004dtx.2_Missense_Mutation_p.S587R	p.S1204R	NM_001039705	NP_001034794	Q12816	TROP_HUMAN			12	3719	+			1204			62 X 10 AA approximate tandem repeats.|40.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.3612C>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.010703	0.35511	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.22743	1.94;1.94;1.94	2.76	-2.51	0.06365	.	.	.	.	.	T	0.29524	0.0736	L	0.48642	1.525	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.68483	0.958;0.958	T	0.16276	-1.0408	9	0.72032	D	0.01	.	3.5679	0.07907	0.1946:0.2604:0.0:0.545	.	807;1204	B1AKE9;Q12816	.;TROP_HUMAN	R	1204;735;807	ENSP00000173898:S1204R;ENSP00000405126:S735R;ENSP00000364181:S807R	ENSP00000173898:S1204R	S	+	3	2	TRO	54973494	0.010000	0.17322	0.000000	0.03702	0.082000	0.17680	0.746000	0.26275	-0.932000	0.03742	0.462000	0.41574	AGC		0.552	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		23	14	1	0	3.62473e-10	0.012319	4.29598e-10	23	14				
MED12	9968	broad.mit.edu	37	X	70340946	70340946	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:70340946G>C	ENST00000374080.3	+	5	711	c.679G>C	c.(679-681)Gag>Cag	p.E227Q	MED12_ENST00000333646.6_Missense_Mutation_p.E227Q|MED12_ENST00000374102.1_Missense_Mutation_p.E227Q			Q93074	MED12_HUMAN	mediator complex subunit 12	227					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCATGATGTAGAGGTGGCAAT	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																																uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(679-681)GAG>CAG		mediator complex subunit 12							88.0	84.0	86.0					X																	70340946		2020	4158	6178	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70340946G>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.679G>C	X.37:g.70340946G>C	ENSP00000363193:p.Glu227Gln					MED12_uc011mpq.1_Missense_Mutation_p.E227Q|MED12_uc004dyz.2_Missense_Mutation_p.E227Q|MED12_uc004dza.2_Missense_Mutation_p.E74Q	p.E227Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			5	878	+	Renal(35;0.156)		227					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.679G>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	21.4	4.144124	0.77888	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.44	5.44	0.79542	.	0.108680	0.64402	D	0.000008	T	0.73923	0.3649	L	0.61218	1.895	0.58432	D	0.999999	P;P;D;D	0.65815	0.823;0.849;0.995;0.984	P;P;D;P	0.69142	0.596;0.478;0.962;0.737	T	0.75496	-0.3297	10	0.62326	D	0.03	-23.5113	18.3055	0.90179	0.0:0.0:1.0:0.0	.	227;74;227;227	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	227;227;227;227;195	ENSP00000333125:E227Q;ENSP00000363215:E227Q;ENSP00000363193:E227Q;ENSP00000414203:E195Q	ENSP00000333125:E227Q	E	+	1	0	MED12	70257671	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.381000	0.97205	2.517000	0.84864	0.600000	0.82982	GAG		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		24	59	0	0	0	0.003954	0	24	59				
UPRT	139596	broad.mit.edu	37	X	74494380	74494380	+	Silent	SNP	A	A	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:74494380A>G	ENST00000373383.4	+	1	458	c.291A>G	c.(289-291)ctA>ctG	p.L97L	UPRT_ENST00000530743.1_5'Flank|UPRT_ENST00000373379.1_Silent_p.L97L|UPRT_ENST00000531704.1_3'UTR	NM_145052.3	NP_659489.1	Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	97					female pregnancy (GO:0007565)|lactation (GO:0007595)|response to insulin (GO:0032868)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						ACTCCTTCCTAGAGGACTGCG	0.577																																							uc004ecb.1		NA																	0					0						c.(289-291)CTA>CTG		uracil phosphoribosyltransferase (FUR1) homolog							32.0	26.0	28.0					X																	74494380		2203	4300	6503	SO:0001819	synonymous_variant	139596				nucleoside metabolic process	cytoplasm|nucleus		g.chrX:74494380A>G	BC015116	CCDS14429.1	Xq13.3	2009-01-14			ENSG00000094841	ENSG00000094841			28334	protein-coding gene	gene with protein product		300656				12477932	Standard	NM_145052		Approved	DKFZp781E1243, MGC23937, FUR1, RP11-311P8.3	uc004ecb.2	Q96BW1	OTTHUMG00000021864	ENST00000373383.4:c.291A>G	X.37:g.74494380A>G						UPRT_uc010nlu.1_Silent_p.L97L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Silent_p.L97L|UPRT_uc004ece.1_5'Flank	p.L97L	NM_145052	NP_659489	Q96BW1	UPP_HUMAN			1	420	+			97					Q5JRL1|Q5JRL3|Q68DN0|Q96MW2	Silent	SNP	ENST00000373383.4	37	c.291A>G	CCDS14429.1																																																																																				0.577	UPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057278.1	NM_145052		17	9	0	0	0	0.00499	0	17	9				
ZNF711	7552	broad.mit.edu	37	X	84510281	84510281	+	Silent	SNP	T	T	G			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:84510281T>G	ENST00000373165.3	+	4	402	c.96T>G	c.(94-96)ggT>ggG	p.G32G	ZNF711_ENST00000360700.4_Silent_p.G32G|ZNF711_ENST00000276123.3_Silent_p.G32G|ZNF711_ENST00000395402.1_Silent_p.G10G|ZNF711_ENST00000542798.1_5'Flank	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	32					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAATGGCTGGTACTGCACATA	0.328																																							uc004eeo.2		NA																	0				ovary(3)|skin(1)	4						c.(94-96)GGT>GGG		zinc finger protein 711							107.0	85.0	92.0					X																	84510281		2203	4300	6503	SO:0001819	synonymous_variant	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84510281T>G	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.96T>G	X.37:g.84510281T>G						ZNF711_uc004eep.2_Silent_p.G32G|ZNF711_uc004eeq.2_Silent_p.G32G	p.G32G	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			4	443	+			32					B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	ENST00000373165.3	37	c.96T>G	CCDS35344.1																																																																																				0.328	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		7	21	0	0	0	0.010504	0	7	21				
PABPC5	140886	broad.mit.edu	37	X	90691232	90691232	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:90691232T>C	ENST00000312600.3	+	2	870	c.656T>C	c.(655-657)tTc>tCc	p.F219S	PABPC5-AS1_ENST00000456187.1_RNA|PABPC5_ENST00000373105.1_Missense_Mutation_p.F55S	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	219	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AAGGAACTTTTCTGTGAATAT	0.438																																							uc004efg.2		NA																	0				ovary(1)|lung(1)|pancreas(1)	3						c.(655-657)TTC>TCC		poly(A) binding protein, cytoplasmic 5							54.0	55.0	55.0					X																	90691232		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90691232T>C	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.656T>C	X.37:g.90691232T>C	ENSP00000308012:p.Phe219Ser					PABPC5_uc004eff.1_Missense_Mutation_p.F55S	p.F219S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	1096	+			219			RRM 3.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.656T>C	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172504	0.57584	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.48836	0.8;0.8	4.39	4.39	0.52855	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.77698	0.4169	H	0.97540	4.025	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.84179	0.0438	10	0.87932	D	0	.	10.9565	0.47360	0.0:0.0:0.0:1.0	.	219	Q96DU9	PABP5_HUMAN	S	55;219;187	ENSP00000362197:F55S;ENSP00000308012:F219S	ENSP00000308012:F219S	F	+	2	0	PABPC5	90577888	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.722000	0.61958	1.951000	0.56629	0.430000	0.28490	TTC		0.438	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		15	14	0	0	0	0.00245	0	15	14				
DDX26B	203522	broad.mit.edu	37	X	134679428	134679428	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:134679428G>C	ENST00000370752.4	+	3	604	c.270G>C	c.(268-270)caG>caC	p.Q90H	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	90	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTCGGTCAGGCTCTAAGAT	0.358																																							uc004eyw.3		NA																	0					0						c.(268-270)CAG>CAC		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							78.0	81.0	80.0					X																	134679428		2203	4300	6503	SO:0001583	missense	203522							g.chrX:134679428G>C	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.270G>C	X.37:g.134679428G>C	ENSP00000359788:p.Gln90His						p.Q90H	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			3	633	+	Acute lymphoblastic leukemia(192;6.56e-05)		90			VWFA.		Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.270G>C	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934140	0.18206	.	.	ENSG00000165359	ENST00000370752	T	0.14144	2.53	5.79	3.09	0.35607	von Willebrand factor, type A (2);	0.099482	0.64402	D	0.000001	T	0.11922	0.0290	L	0.48362	1.52	0.38315	D	0.943351	B	0.17038	0.02	B	0.23716	0.048	T	0.15636	-1.0430	10	0.13853	T	0.58	-8.5609	9.7586	0.40519	0.2253:0.0:0.7747:0.0	.	90	Q5JSJ4	DX26B_HUMAN	H	90	ENSP00000359788:Q90H	ENSP00000359788:Q90H	Q	+	3	2	DDX26B	134507094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.052000	0.41316	0.227000	0.20999	0.600000	0.82982	CAG		0.358	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		30	40	0	0	0	0.007291	0	30	40				
SLITRK4	139065	broad.mit.edu	37	X	142716991	142716991	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:142716991C>T	ENST00000381779.4	-	2	2159	c.1934G>A	c.(1933-1935)cGc>cAc	p.R645H	SLITRK4_ENST00000356928.1_Missense_Mutation_p.R645H|SLITRK4_ENST00000338017.4_Missense_Mutation_p.R645H	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	645						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTTGTTGCGTCGCAGGAC	0.458																																							uc004fbx.2		NA																	0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1933-1935)CGC>CAC		slit and trk like 4 protein precursor							99.0	99.0	99.0					X																	142716991		2203	4300	6503	SO:0001583	missense	139065					integral to membrane		g.chrX:142716991C>T	BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1934G>A	X.37:g.142716991C>T	ENSP00000371198:p.Arg645His					SLITRK4_uc004fby.2_Missense_Mutation_p.R645H	p.R645H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN			2	2310	-	Acute lymphoblastic leukemia(192;6.56e-05)		645			Cytoplasmic (Potential).		Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	c.1934G>A	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.337263	0.81911	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.68331	-0.32;-0.32;-0.32	5.36	5.36	0.76844	.	0.000000	0.85682	U	0.000000	T	0.80607	0.4655	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82880	-0.0238	10	0.87932	D	0	-5.7493	16.5642	0.84574	0.0:1.0:0.0:0.0	.	645	Q8IW52	SLIK4_HUMAN	H	645	ENSP00000371198:R645H;ENSP00000349400:R645H;ENSP00000336627:R645H	ENSP00000336627:R645H	R	-	2	0	SLITRK4	142544657	1.000000	0.71417	0.879000	0.34478	0.993000	0.82548	7.818000	0.86416	2.224000	0.72417	0.513000	0.50165	CGC		0.458	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078		25	61	0	0	0	0.00333	0	25	61				
OR14A16	284532	broad.mit.edu	37	1	247978907	247978921	+	In_Frame_Del	DEL	AGGACATTCCCCATC	AGGACATTCCCCATC	-			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	AGGACATTCCCCATC	AGGACATTCCCCATC	-	-	AGGACATTCCCCATC	AGGACATTCCCCATC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr1:247978907_247978921delAGGACATTCCCCATC	ENST00000357627.1	-	1	110_124	c.111_125delGATGGGGAATGTCCT	c.(109-126)ctgatggggaatgtcctc>ctc	p.37_42LMGNVL>L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G39E(1)|p.N40S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CATGATAATGAGGACATTCCCCATCAGGGCACACA	0.386																																					Ovarian(112;180 1586 15073 21914 33526)	Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	2	Substitution - Missense(2)		kidney(1)|endometrium(1)		0						c.(109-126)CTGATGGGGAATGTCCTC>CTC		olfactory receptor, family 14, subfamily A,																																				SO:0001651	inframe_deletion	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978907_247978921delAGGACATTCCCCATC	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.111_125delGATGGGGAATGTCCT	1.37:g.247978907_247978921delAGGACATTCCCCATC	ENSP00000350248:p.Leu37_Val41del						p.37_42LMGNVL>L	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	111_125	-			37_42			Helical; Name=1; (Potential).		Q6IF96	In_Frame_Del	DEL	ENST00000357627.1	37	c.111_125delGATGGGGAATGTCCT	CCDS31097.1																																																																																				0.386	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		15	35	NA	NA	NA	NA	NA	15	35	---	---	---	---
MTSS1L	92154	broad.mit.edu	37	16	70697685	70697694	+	Frame_Shift_Del	DEL	GGCTGGGGGT	GGCTGGGGGT	-	rs188606518	byFrequency	TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	GGCTGGGGGT	GGCTGGGGGT	-	-	GGCTGGGGGT	GGCTGGGGGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr16:70697685_70697694delGGCTGGGGGT	ENST00000338779.6	-	15	2404_2413	c.2130_2139delACCCCCAGCC	c.(2128-2139)ccacccccagccfs	p.PPPA710fs	FLJ00418_ENST00000597002.1_5'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	710					filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						CGCTGGTGGCGGCTGGGGGTGGGGTGGGCG	0.733																																							uc002ezj.2		NA																	0				central_nervous_system(1)	1						c.(2128-2139)CCACCCCCAGCCfs		metastasis suppressor 1-like																																				SO:0001589	frameshift_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70697685_70697694delGGCTGGGGGT		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.2130_2139delACCCCCAGCC	16.37:g.70697685_70697694delGGCTGGGGGT	ENSP00000341171:p.Pro710fs						p.P710fs	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN			15	2390_2399	-			710_713					A6NJI7|Q9BUA8	Frame_Shift_Del	DEL	ENST00000338779.6	37	c.2130_2139delACCCCCAGCC	CCDS32476.1																																																																																				0.733	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		3	3	NA	NA	NA	NA	NA	3	3	---	---	---	---
CEP68	23177	broad.mit.edu	37	2	65296785	65296786	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr2:65296785_65296786insA	ENST00000377990.2	+	2	410_411	c.207_208insA	c.(208-210)actfs	p.T70fs	RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000546106.1_Frame_Shift_Ins_p.T70fs|CEP68_ENST00000537589.1_Intron|CEP68_ENST00000260569.4_Frame_Shift_Ins_p.T70fs	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	70					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTGGATTGGGACTGACCCTGG	0.649																																							uc002sdl.3		NA																	0				skin(1)	1						c.(205-210)GGGACTfs		centrosomal protein 68kDa																																				SO:0001589	frameshift_variant	23177				centrosome organization	centrosome		g.chr2:65296785_65296786insA	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.208dupA	2.37:g.65296786_65296786dupA	ENSP00000367229:p.Thr70fs					CEP68_uc002sdj.2_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqb.1_Frame_Shift_Ins_p.G69fs|CEP68_uc002sdk.3_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqc.1_Frame_Shift_Ins_p.G69fs|CEP68_uc010yqd.1_Frame_Shift_Ins_p.G69fs	p.G69fs	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			2	421_422	+			69_70					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Frame_Shift_Ins	INS	ENST00000377990.2	37	c.207_208insA	CCDS1880.2																																																																																				0.649	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147		61	56	NA	NA	NA	NA	NA	61	56	---	---	---	---
PRKG2	5593	broad.mit.edu	37	4	82074817	82074817	+	Frame_Shift_Del	DEL	A	A	-			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr4:82074817delA	ENST00000395578.1	-	7	1087	c.971delT	c.(970-972)ttcfs	p.F324fs	PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Frame_Shift_Del_p.F324fs|PRKG2_ENST00000418486.2_Frame_Shift_Del_p.F324fs			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	324					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TGCCAAAATGAAAAAGGTACT	0.343																																							uc003hmh.2		NA																	0				breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7						c.(970-972)TTCfs		protein kinase, cGMP-dependent, type II							86.0	81.0	83.0					4																	82074817		2203	4300	6503	SO:0001589	frameshift_variant	5593				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr4:82074817delA	X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.971delT	4.37:g.82074817delA	ENSP00000378945:p.Phe324fs					PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Frame_Shift_Del_p.F324fs	p.F324fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN			6	985	-			324			cGMP 2.		B4DMX3|E7EPE6|O00125|O60916	Frame_Shift_Del	DEL	ENST00000395578.1	37	c.971delT	CCDS3589.1																																																																																				0.343	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1	NM_006259		8	138	NA	NA	NA	NA	NA	8	138	---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92733829	92733829	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr7:92733829delG	ENST00000379958.2	-	3	1851	c.1582delC	c.(1582-1584)cttfs	p.L528fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	528						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCATGTGTAAGAAATGAAATC	0.408																																							uc003umf.2		NA																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1582-1584)CTTfs		sterile alpha motif domain containing 9							87.0	91.0	89.0					7																	92733829		2203	4300	6503	SO:0001589	frameshift_variant	54809					cytoplasm		g.chr7:92733829delG	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.1582delC	7.37:g.92733829delG	ENSP00000369292:p.Leu528fs					SAMD9_uc003umg.2_Frame_Shift_Del_p.L528fs	p.L528fs	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		3	1838	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		528					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Frame_Shift_Del	DEL	ENST00000379958.2	37	c.1582delC	CCDS34680.1																																																																																				0.408	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654		14	289	NA	NA	NA	NA	NA	14	289	---	---	---	---
GRHL2	79977	broad.mit.edu	37	8	102656404	102656405	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr8:102656404_102656405insT	ENST00000251808.3	+	13	1901_1902	c.1563_1564insT	c.(1564-1566)tttfs	p.F522fs	GRHL2_ENST00000517674.1_3'UTR|GRHL2_ENST00000395927.1_Frame_Shift_Ins_p.F506fs	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	522					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TGGAAGAGGAGTTTGGTCCAGT	0.495																																							uc010mbu.2		NA																	0				ovary(2)|skin(1)	3						c.(1561-1566)GAGTTTfs		transcription factor CP2-like 3																																				SO:0001589	frameshift_variant	79977					cytoplasm|nucleus	DNA binding	g.chr8:102656404_102656405insT	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1566dupT	8.37:g.102656407_102656407dupT	ENSP00000251808:p.Phe522fs						p.E521fs	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		13	1893_1894	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		521_522					A1L303|Q6NT03|Q9H8B8	Frame_Shift_Ins	INS	ENST00000251808.3	37	c.1563_1564insT	CCDS34931.1																																																																																				0.495	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915		11	53	NA	NA	NA	NA	NA	11	53	---	---	---	---
RORB	6096	broad.mit.edu	37	9	77286749	77286750	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chr9:77286749_77286750insA	ENST00000396204.2	+	9	1189_1190	c.1189_1190insA	c.(1189-1191)gaafs	p.E397fs	RORB_ENST00000376896.3_Frame_Shift_Ins_p.E386fs			Q92753	RORB_HUMAN	RAR-related orphan receptor B	397	Ligand-binding. {ECO:0000255}.				amacrine cell differentiation (GO:0035881)|cellular response to retinoic acid (GO:0071300)|eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12					Melatonin(DB01065)	GAAGCTTCAGGAAAAAATTTAT	0.446																																							uc004aji.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1189-1191)GAAfs		RAR-related orphan receptor B																																				SO:0001589	frameshift_variant	6096				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr9:77286749_77286750insA	Y08639	CCDS6646.1	9q22	2013-01-16			ENSG00000198963	ENSG00000198963		"""Nuclear hormone receptors"""	10259	protein-coding gene	gene with protein product		601972				7926749	Standard	NM_006914		Approved	RZRB, NR1F2, ROR-BETA	uc004ajh.3	Q92753	OTTHUMG00000020026	ENST00000396204.2:c.1195dupA	9.37:g.77286755_77286755dupA	ENSP00000379507:p.Glu397fs					RORB_uc004ajh.2_Frame_Shift_Ins_p.E386fs	p.E397fs	NM_006914	NP_008845	Q92753	RORB_HUMAN			9	1238_1239	+			397			Ligand-binding (Potential).		Q8WX73	Frame_Shift_Ins	INS	ENST00000396204.2	37	c.1189_1190insA																																																																																					0.446	RORB-201	KNOWN	basic	protein_coding	protein_coding				7	26	NA	NA	NA	NA	NA	7	26	---	---	---	---
GRIPAP1	56850	broad.mit.edu	37	X	48849862	48849863	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-78-7154-01A-11D-2036-08	TCGA-78-7154-10A-01D-2036-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6a1d3fc1-6884-497f-93f8-95fcd33c6eb2	9d5e0598-a3b3-4ab7-9b53-18825c4ea3ab	g.chrX:48849862_48849863delTG	ENST00000376441.1	-	6	468_469	c.434_435delCA	c.(433-435)acafs	p.T145fs	GRIPAP1_ENST00000473581.1_5'Flank|GRIPAP1_ENST00000376444.3_Frame_Shift_Del_p.T100fs|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000376425.3_Frame_Shift_Del_p.T145fs	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	145						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TCTGCAAGGCTGTGTTTTCAGC	0.614																																							uc004dly.1		NA																	0				breast(2)|kidney(1)	3						c.(433-435)ACAfs		GRIP1 associated protein 1 isoform 1																																				SO:0001589	frameshift_variant	56850					early endosome		g.chrX:48849862_48849863delTG	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.434_435delCA	X.37:g.48849864_48849865delTG	ENSP00000365624:p.Thr145fs					GRIPAP1_uc004dlz.2_5'Flank|GRIPAP1_uc004dma.2_Intron	p.T145fs	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			6	469_470	-			145			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Frame_Shift_Del	DEL	ENST00000376441.1	37	c.434_435delCA	CCDS35248.1																																																																																				0.614	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672		11	6	NA	NA	NA	NA	NA	11	6	---	---	---	---
