#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ENO1	2023	broad.mit.edu	37	1	8923006	8923006	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:8923006T>C	ENST00000234590.4	-	11	1296		c.e11-2			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTGATCTAGGAGAAAAG	0.532											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(21;302 608 19946 22210 33560)	ENST00000234590.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10						c.e11-2		enolase 1, (alpha)							65.0	60.0	62.0					1																	8923006		2203	4300	6503	SO:0001630	splice_region_variant	2023				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:8923006T>C	BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1177-2A>G	1.37:g.8923006T>C			OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	653			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	11	1296	-	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)						B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Splice_Site	SNP	ENST00000234590.4	37		CCDS97.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.917501	0.52546	.	.	ENSG00000074800	ENST00000234590	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1521	0.65392	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ENO1	8845593	1.000000	0.71417	0.940000	0.37924	0.569000	0.35902	7.866000	0.87056	2.135000	0.66039	0.459000	0.35465	.		0.532	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004945.1	NM_001428	Intron	3	29	3	29	---	---	---	---
CLCNKB	1188	broad.mit.edu	37	1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	rs121909133		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	438			R -> C (in BS3). {ECO:0000269|PubMed:9326936}.		excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617																																						ENST00000375679.4																			1	Substitution - Missense(1)	p.R438C(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21	GRCh37	CM970324	CLCNKB	M	rs121909133	c.(1312-1314)Cgc>Tgc		chloride channel, voltage-sensitive Kb							89.0	91.0	90.0					1																	16378219		2203	4300	6503	SO:0001583	missense	1188							g.chr1:16378219C>T	AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1312C>T	1.37:g.16378219C>T	ENSP00000364831:p.Arg438Cys					CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	p.R438C	NM_000085.4	NP_000076.2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	14	1423	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)						B3KUY3|Q5T5Q7|Q5T5Q8	Missense_Mutation	SNP	ENST00000375679.4	37	c.1312C>T	CCDS168.1	.	.	.	.	.	.	.	.	.	.	c	17.58	3.423818	0.62733	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	D;D	0.95205	-3.64;-3.64	4.05	4.05	0.47172	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	H	0.96048	3.76	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99917	1.1229	9	0.87932	D	0	.	9.5113	0.39078	0.211:0.789:0.0:0.0	.	269;438	Q5T5Q7;P51801	.;CLCKB_HUMAN	C	438;310;269	ENSP00000364831:R438C;ENSP00000364819:R269C	ENSP00000332055:R310C	R	+	1	0	CLCNKB	16250806	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.606000	0.54095	1.964000	0.57103	0.455000	0.32223	CGC		0.617	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026331.1	NM_000085		9	260	9	260	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169953739	169953739	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:169953739T>C	ENST00000361580.2	-	12	1604	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367765.1_Silent_p.V419V	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1255-1257)gtA>gtG		kinesin-associated protein 3							95.0	88.0	90.0					1																	169953739		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169953739T>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1377A>G	1.37:g.169953739T>C						KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000367767.1_Silent_p.V415V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V	p.V419V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			12	2758	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		459					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1257A>G	CCDS1288.1																																																																																				0.328	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		8	58	8	58	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120932465	120932465	+	Silent	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:120932465A>G	ENST00000263713.5	+	25	2398	c.2184A>G	c.(2182-2184)ttA>ttG	p.L728L	AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T685A|EPB41L5_ENST00000452780.1_Silent_p.L727L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	728					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAAGTGTTTACTGACCACTG	0.512																																						ENST00000443902.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						c.(2053-2055)Act>Gct		erythrocyte membrane protein band 4.1 like 5							199.0	199.0	199.0					2																	120932465		2203	4300	6503	SO:0001819	synonymous_variant	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120932465A>G	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.2184A>G	2.37:g.120932465A>G						AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000263713.5_Silent_p.L728L|EPB41L5_ENST00000452780.1_Silent_p.L727L	p.T685A	NM_001184937.1	NP_001171866.1	Q9HCM4	E41L5_HUMAN			24	2195	+			0					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.2053A>G	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.875884	0.72180	.	.	ENSG00000115109	ENST00000443902	T	0.80738	-1.41	5.03	0.243	0.15503	.	.	.	.	.	T	0.70185	0.3195	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.63084	-0.6716	8	0.87932	D	0	.	7.1603	0.25661	0.5384:0.0:0.4616:0.0	.	685	Q9HCM4-4	.	A	685	ENSP00000393856:T685A	ENSP00000393856:T685A	T	+	1	0	EPB41L5	120648935	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	0.756000	0.26419	0.158000	0.19367	0.460000	0.39030	ACT		0.512	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		27	157	27	157	---	---	---	---
IQCF3	401067	broad.mit.edu	37	3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAAAGGGTGAAGGCAGCTGG	0.567																																						ENST00000456080.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(103-105)Aag>Tag		IQ motif containing F3							57.0	63.0	61.0					3																	51864455		2139	4256	6395	SO:0001587	stop_gained	401067							g.chr3:51864455A>T	AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.103A>T	3.37:g.51864455A>T	ENSP00000415609:p.Lys35*					IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron	p.K35*			P0C7M6	IQCF3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	1268	+			35					B2RUV0	Nonsense_Mutation	SNP	ENST00000456080.1	37	c.103A>T	CCDS46837.1	.	.	.	.	.	.	.	.	.	.	A	38	6.983284	0.97979	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739	.	.	.	4.41	-1.83	0.07833	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8847	0.24193	0.56:0.218:0.2219:0.0	.	.	.	.	X	35	.	ENSP00000409373:K35X	K	+	1	0	IQCF3	51839495	0.000000	0.05858	0.000000	0.03702	0.056000	0.15407	-1.049000	0.03514	-0.484000	0.06763	-0.213000	0.12676	AAG		0.567	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346579.2	NM_001085479		15	43	15	43	---	---	---	---
RYBP	23429	broad.mit.edu	37	3	72428400	72428400	+	Splice_Site	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:72428400A>T	ENST00000477973.2	-	2	600		c.e2+1			NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCAGAAACTTACTTGGTTTTC	0.328																																						ENST00000477973.2																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.e2+1		RING1 and YY1 binding protein							227.0	220.0	222.0					3																	72428400		1838	4095	5933	SO:0001630	splice_region_variant	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428400A>T	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.600+1T>A	3.37:g.72428400A>T								NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	600	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)						Q9P2W5|Q9UMW4	Splice_Site	SNP	ENST00000477973.2	37			.	.	.	.	.	.	.	.	.	.	A	16.72	3.201851	0.58234	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0916	0.81094	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RYBP	72511090	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.266000	0.78452	2.186000	0.69663	0.533000	0.62120	.		0.328	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234	Intron	28	99	28	99	---	---	---	---
KCNAB1	7881	broad.mit.edu	37	3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T	rs377328629		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:156192555G>T	ENST00000490337.1	+	8	668	c.604G>T	c.(604-606)Gag>Tag	p.E202*	KCNAB1_ENST00000302490.8_Nonsense_Mutation_p.E184*|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	202					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTGCAGCTCGAGTATGTGGA	0.433																																						ENST00000302490.8																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(550-552)Gag>Tag		potassium voltage-gated channel, shaker-related subfamily, beta member 1							119.0	121.0	120.0					3																	156192555		2203	4300	6503	SO:0001587	stop_gained	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156192555G>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.604G>T	3.37:g.156192555G>T	ENSP00000419952:p.Glu202*					KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Intron	p.E184*	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		8	1421	+			202					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Nonsense_Mutation	SNP	ENST00000490337.1	37	c.550G>T	CCDS3174.1	.	.	.	.	.	.	.	.	.	.	G	36	5.895872	0.97081	.	.	ENSG00000169282	ENST00000490337;ENST00000471742;ENST00000475456;ENST00000302490	.	.	.	5.76	5.76	0.90799	.	0.096119	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.6509	18.7572	0.91837	0.0:0.0:1.0:0.0	.	.	.	.	X	202;191;145;184	.	ENSP00000305858:E184X	E	+	1	0	KCNAB1	157675249	1.000000	0.71417	0.972000	0.41901	0.899000	0.52679	8.873000	0.92357	2.706000	0.92434	0.655000	0.94253	GAG		0.433	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1	NM_003471		14	128	14	128	---	---	---	---
HELQ	113510	broad.mit.edu	37	4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:84370065A>T	ENST00000295488.3	-	3	1224	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATATATTAAATTTTTTCTTT	0.338								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(1060-1062)aaT>aaA	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							44.0	45.0	45.0					4																	84370065		2203	4299	6502	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84370065A>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1062T>A	4.37:g.84370065A>T	ENSP00000295488:p.Asn354Lys					HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	p.N354K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN			3	1224	-			354			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.1062T>A	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359108	0.61403	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.56941	2.42;0.43	5.88	4.69	0.59074	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81522	0.4840	H	0.98901	4.365	0.24965	N	0.991708	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.76990	-0.2754	10	0.87932	D	0	.	8.5231	0.33289	0.7777:0.0:0.2223:0.0	.	354;354	E3W980;Q8TDG4	.;HELQ_HUMAN	K	354	ENSP00000295488:N354K;ENSP00000424539:N354K	ENSP00000295488:N354K	N	-	3	2	HELQ	84589089	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.586000	0.46119	1.035000	0.39972	0.533000	0.62120	AAT		0.338	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		3	31	3	31	---	---	---	---
AGA	175	broad.mit.edu	37	4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368																																						ENST00000264595.2																			1	Substitution - Missense(1)	p.I112V(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16						c.(334-336)Att>Gtt		aspartylglucosaminidase							224.0	214.0	217.0					4																	178360790		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360790T>C	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.334A>G	4.37:g.178360790T>C	ENSP00000264595:p.Ile112Val					AGA_ENST00000506853.1_5'UTR	p.I112V	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	461	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	112					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.334A>G	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.005931	0.54254	.	.	ENSG00000038002	ENST00000264595	D	0.89681	-2.55	5.93	4.75	0.60458	.	0.047275	0.85682	D	0.000000	D	0.86518	0.5952	L	0.37800	1.135	0.58432	D	0.999995	B	0.23806	0.091	B	0.37943	0.261	T	0.82627	-0.0364	10	0.48119	T	0.1	-10.726	11.7123	0.51633	0.0:0.0694:0.0:0.9306	.	112	P20933	ASPG_HUMAN	V	112	ENSP00000264595:I112V	ENSP00000264595:I112V	I	-	1	0	AGA	178597784	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.194000	0.58393	1.070000	0.40811	0.533000	0.62120	ATT		0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		38	271	38	271	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242917	141242917	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:141242917C>T	ENST00000394536.3	-	3	3118	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000287008.3_Silent_p.V993V	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	993					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTCCTGTACCACCTGGTGCT	0.637																																					Ovarian(132;1609 1739 4190 14731 45037)	ENST00000287008.3																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51						c.(2977-2979)gtG>gtA		protocadherin 1							76.0	68.0	70.0					5																	141242917		2203	4300	6503	SO:0001819	synonymous_variant	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141242917C>T	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2979G>A	5.37:g.141242917C>T						PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000394536.3_Silent_p.V993V	p.V993V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	3126	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	993					Q8IUP2	Silent	SNP	ENST00000394536.3	37	c.2979G>A	CCDS43375.1																																																																																				0.637	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		3	24	3	24	---	---	---	---
USP45	85015	broad.mit.edu	37	6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	107					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGGAACTCTTAAAGTGCTT	0.333																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(319-321)aAg>aGg		ubiquitin specific peptidase 45							134.0	137.0	136.0					6																	99955361		2202	4298	6500	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99955361T>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.320A>G	6.37:g.99955361T>C	ENSP00000333376:p.Lys107Arg					USP45_ENST00000500704.2_Missense_Mutation_p.K107R|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000329966.6_Missense_Mutation_p.K107R|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R	p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	4	852	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	107					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.320A>G	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	T	8.650	0.897982	0.17686	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000329966;ENST00000472914;ENST00000369231	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.57	-0.962	0.10333	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.413868	0.28572	N	0.014879	T	0.08802	0.0218	L	0.28458	0.855	0.26434	N	0.975898	B;B	0.16802	0.005;0.019	B;B	0.16289	0.01;0.015	T	0.34775	-0.9815	10	0.20519	T	0.43	.	5.8949	0.18933	0.0:0.2819:0.1283:0.5898	.	107;107	D6RBV3;Q70EL2	.;UBP45_HUMAN	R	107	ENSP00000424372:K107R;ENSP00000333376:K107R;ENSP00000358236:K107R;ENSP00000330540:K107R;ENSP00000423993:K107R;ENSP00000358234:K107R	ENSP00000333376:K107R	K	-	2	0	USP45	100062082	0.999000	0.42202	0.635000	0.29338	0.256000	0.26092	2.580000	0.46068	-0.155000	0.11098	-0.263000	0.10527	AAG		0.333	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		3	70	3	70	---	---	---	---
CDK13	8621	broad.mit.edu	37	7	40085626	40085626	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAATAATAGGTATGGGTATGA	0.373																																						ENST00000181839.4																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						c.e6+2		cyclin-dependent kinase 13							65.0	71.0	69.0					7																	40085626		2203	4298	6501	SO:0001630	splice_region_variant	8621				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr7:40085626T>C	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2543+2T>C	7.37:g.40085626T>C						CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site		NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN			6	3148	+								Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Splice_Site	SNP	ENST00000181839.4	37		CCDS5461.1	.	.	.	.	.	.	.	.	.	.	T	11.03	1.517823	0.27211	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	.	.	.	4.52	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0031	0.64446	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDK13	40052151	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	7.868000	0.87116	1.892000	0.54788	0.477000	0.44152	.		0.373	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	Intron	31	101	31	101	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr8:87645021A>C	ENST00000320005.5	-	11	1326	c.1279T>G	c.(1279-1281)Ttt>Gtt	p.F427V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	427					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGAAAAAAAATTCAAGAGT	0.358																																						ENST00000320005.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						c.(1279-1281)Ttt>Gtt		cyclic nucleotide gated channel beta 3							50.0	52.0	51.0					8																	87645021		2203	4297	6500	SO:0001583	missense	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87645021A>C	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1279T>G	8.37:g.87645021A>C	ENSP00000316605:p.Phe427Val						p.F427V	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN			11	1326	-			427					C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.1279T>G	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593553	0.86953	.	.	ENSG00000170289	ENST00000320005	D	0.97303	-4.33	5.12	5.12	0.69794	.	0.289221	0.34362	N	0.004021	D	0.98270	0.9427	M	0.86864	2.845	0.80722	D	1	D;D	0.55800	0.967;0.973	P;P	0.60012	0.84;0.867	D	0.99297	1.0900	10	0.87932	D	0	.	15.2136	0.73247	1.0:0.0:0.0:0.0	.	427;427	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	V	427	ENSP00000316605:F427V	ENSP00000316605:F427V	F	-	1	0	CNGB3	87714137	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	9.287000	0.95975	2.056000	0.61249	0.482000	0.46254	TTT		0.358	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098		4	24	4	24	---	---	---	---
AAED1	195827	broad.mit.edu	37	9	99404081	99404081	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr9:99404081T>C	ENST00000375234.3	-	6	640	c.641A>G	c.(640-642)cAt>cGt	p.H214R		NM_153698.1	NP_714542.1	Q7RTV5	AAED1_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	214																	AAAGTTCACATGCTGAACTCC	0.403																																						ENST00000375234.3																			0											c.(640-642)cAt>cGt		AhpC/TSA antioxidant enzyme domain containing 1							122.0	111.0	115.0					9																	99404081		2203	4300	6503	SO:0001583	missense	195827						antioxidant activity|oxidoreductase activity	g.chr9:99404081T>C	BK000255	CCDS35073.1	9q22.32	2013-01-07	2012-03-06	2012-03-06	ENSG00000158122	ENSG00000158122			16881	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 21"""	C9orf21			Standard	XM_005251783		Approved		uc004awm.3	Q7RTV5	OTTHUMG00000020299	ENST00000375234.3:c.641A>G	9.37:g.99404081T>C	ENSP00000364382:p.His214Arg						p.H214R	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN			6	640	-			214					B2RMW4|Q5JU02	Missense_Mutation	SNP	ENST00000375234.3	37	c.641A>G	CCDS35073.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.982|6.982	0.551295|0.551295	0.13374|0.13374	.|.	.|.	ENSG00000158122|ENSG00000158122	ENST00000375234;ENST00000375233|ENST00000411939	T|.	0.40756|.	1.02|.	5.28|5.28	-0.256|-0.256	0.12984|0.12984	.|.	0.749007|.	0.13127|.	N|.	0.411767|.	T|T	0.31295|0.31295	0.0792|0.0792	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.10450|.	0.005|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.13108|.	T|.	0.6|.	-0.0111|-0.0111	10.901|10.901	0.47051|0.47051	0.0:0.0745:0.6431:0.2823|0.0:0.0745:0.6431:0.2823	.|.	214|.	Q7RTV5|.	CI021_HUMAN|.	R|V	214;170|98	ENSP00000364382:H214R|.	ENSP00000364381:H170R|.	H|M	-|-	2|1	0|0	C9orf21|C9orf21	98443902|98443902	0.299000|0.299000	0.24426|0.24426	0.258000|0.258000	0.24420|0.24420	0.965000|0.965000	0.64279|0.64279	0.419000|0.419000	0.21247|0.21247	0.097000|0.097000	0.17492|0.17492	-0.321000|-0.321000	0.08615|0.08615	CAT|ATG		0.403	AAED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053273.1	NM_153698		16	93	16	93	---	---	---	---
RPP38	10557	broad.mit.edu	37	10	15145358	15145358	+	Silent	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.K15K	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	15					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTCCGTAAGACGAGACCTC	0.498																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(43-45)aaG>aaA		ribonuclease P/MRP 38kDa subunit							70.0	74.0	73.0					10																	15145358		2203	4300	6503	SO:0001819	synonymous_variant	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145358G>A	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.45G>A	10.37:g.15145358G>A						RPP38_ENST00000378202.5_Silent_p.K15K|NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron	p.K15K	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	559	+			15					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Silent	SNP	ENST00000378197.4	37	c.45G>A	CCDS7108.1																																																																																				0.498	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		13	74	13	74	---	---	---	---
PTCHD3	374308	broad.mit.edu	37	10	27702748	27702748	+	Silent	SNP	C	C	T	rs571645965		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:27702748C>T	ENST00000438700.3	-	1	549	c.432G>A	c.(430-432)gcG>gcA	p.A144A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCAAGGGCGCCAGCAGGA	0.667																																						ENST00000438700.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						c.(430-432)gcG>gcA		patched domain containing 3							44.0	51.0	48.0					10																	27702748		2203	4300	6503	SO:0001819	synonymous_variant	374308				spermatid development	integral to membrane	hedgehog receptor activity	g.chr10:27702748C>T	AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.432G>A	10.37:g.27702748C>T							p.A144A	NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN			1	549	-			144					I3L499|Q6ZU28	Silent	SNP	ENST00000438700.3	37	c.432G>A	CCDS31173.1																																																																																				0.667	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047325.3	XM_370541		12	78	12	78	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(1495-1497)Ccc>Tcc		zinc finger, MIZ-type containing 1							187.0	191.0	190.0					10																	81058166		2203	4300	6503	SO:0001583	missense	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81058166C>T	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.1495C>T	10.37:g.81058166C>T	ENSP00000334474:p.Pro499Ser						p.P499S	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		15	2067	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		499			Pro-rich.		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	ENST00000334512.5	37	c.1495C>T	CCDS7357.1	.	.	.	.	.	.	.	.	.	.	C	12.63	1.995032	0.35226	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.50548	0.74	5.12	4.1	0.47936	.	0.177059	0.26935	N	0.021753	T	0.26774	0.0655	L	0.29908	0.895	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15492	-1.0435	10	0.10111	T	0.7	-14.8522	3.3399	0.07115	0.0:0.6058:0.0:0.3941	.	499	Q9ULJ6	ZMIZ1_HUMAN	S	499;429;406	ENSP00000334474:P499S	ENSP00000334474:P499S	P	+	1	0	ZMIZ1	80728172	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.399000	0.52586	2.391000	0.81399	0.462000	0.41574	CCC		0.602	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		41	257	41	257	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:20676275G>A	ENST00000525748.1	+	16	2528	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	752					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGTTGGTGTGCTCGCCACAG	0.557																																						ENST00000525748.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63						c.(2254-2256)tGc>tAc		solute carrier family 6 (neurotransmitter transporter), member 5	Glycine(DB00145)						99.0	98.0	98.0					11																	20676275		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20676275G>A	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2255G>A	11.37:g.20676275G>A	ENSP00000434364:p.Cys752Tyr					SLC6A5_ENST00000528440.1_3'UTR	p.C752Y	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN			16	2528	+			752					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2255G>A	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419606	0.83559	.	.	ENSG00000165970	ENST00000525748	T	0.72725	-0.68	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.64042	0.921	T	0.77970	-0.2387	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	752	Q9Y345	SC6A5_HUMAN	Y	752	ENSP00000434364:C752Y	ENSP00000434364:C752Y	C	+	2	0	SLC6A5	20632851	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.414000	0.97362	2.873000	0.98535	0.563000	0.77884	TGC		0.557	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		4	112	4	112	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:48266787C>A	ENST00000302329.3	+	1	180	c.132C>A	c.(130-132)agC>agA	p.S44R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	44						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						TCATGACCAGCAGAAGCCTTG	0.502																																						ENST00000302329.3																			0				breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(130-132)agC>agA		olfactory receptor, family 4, subfamily X, member 2							200.0	179.0	186.0					11																	48266787		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48266787C>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.132C>A	11.37:g.48266787C>A	ENSP00000307751:p.Ser44Arg						p.S44R	NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN			1	180	+			44					B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.132C>A	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132647	0.56828	.	.	ENSG00000172208	ENST00000302329	T	0.01099	5.34	5.37	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.06050	0.0157	M	0.87547	2.89	0.27547	N	0.95061	D	0.76494	0.999	D	0.70227	0.968	T	0.04565	-1.0942	10	0.87932	D	0	.	6.4363	0.21825	0.0:0.7232:0.0:0.2768	.	44	Q8NGF9	OR4X2_HUMAN	R	44	ENSP00000307751:S44R	ENSP00000307751:S44R	S	+	3	2	OR4X2	48223363	0.000000	0.05858	0.997000	0.53966	0.797000	0.45037	0.024000	0.13555	1.254000	0.44035	0.650000	0.86243	AGC		0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		14	117	14	117	---	---	---	---
PPP6R3	55291	broad.mit.edu	37	11	68315610	68315610	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:68315610G>T	ENST00000393800.2	+	5	744	c.490G>T	c.(490-492)Gat>Tat	p.D164Y	PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393799.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	164					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGCTATCATGGATTTGTTGCT	0.428																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(490-492)Gat>Tat		protein phosphatase 6, regulatory subunit 3							153.0	145.0	148.0					11																	68315610		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68315610G>T	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.490G>T	11.37:g.68315610G>T	ENSP00000377389:p.Asp164Tyr					PPP6R3_ENST00000527403.2_Missense_Mutation_p.D164Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.D73Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.D164Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.D164Y|PPP6R3_ENST00000524845.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.D164Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.D164Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.D164Y	p.D164Y			Q5H9R7	PP6R3_HUMAN			5	757	+			164					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.490G>T	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.395690	0.83011	.	.	ENSG00000110075	ENST00000393799;ENST00000413788;ENST00000393800;ENST00000529907;ENST00000534534;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.68025	-0.3;-0.3;3.61;-0.28;-0.3;-0.3;-0.3;-0.3;-0.28;-0.28;-0.3	5.3	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;P;D	0.89917	1.0;0.996;0.996;0.998;0.998;0.948;0.998	D;D;D;D;D;P;D	0.91635	0.999;0.985;0.966;0.966;0.98;0.807;0.966	D	0.85452	0.1161	10	0.87932	D	0	.	14.1684	0.65493	0.0716:0.0:0.9284:0.0	.	73;164;164;164;164;164;164	E9PQP7;Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;.;PP6R3_HUMAN;.;.	Y	164;73;164;73;73;164;164;164;164;164;164;164;164	ENSP00000377388:D164Y;ENSP00000377389:D164Y;ENSP00000431738:D73Y;ENSP00000434429:D73Y;ENSP00000431415:D164Y;ENSP00000265637:D164Y;ENSP00000433058:D164Y;ENSP00000377390:D164Y;ENSP00000265636:D164Y;ENSP00000437329:D164Y;ENSP00000433565:D164Y	ENSP00000265636:D164Y	D	+	1	0	PPP6R3	68072186	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.502000	0.97981	1.478000	0.48253	0.561000	0.74099	GAT		0.428	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		4	114	4	114	---	---	---	---
KCTD14	65987	broad.mit.edu	37	11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	RP11-7I15.3_ENST00000533697.1_RNA|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	34	BTB.				protein homooligomerization (GO:0051260)					endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGCTCCACAACAGTAGACATC	0.502																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)	ENST00000353172.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15						c.(100-102)Gtt>Ctt		potassium channel tetramerization domain containing 14							50.0	50.0	50.0					11																	77728307		2200	4292	6492	SO:0001583	missense	65987					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77728307C>G	BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.100G>C	11.37:g.77728307C>G	ENSP00000316482:p.Val34Leu					NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S|KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S	p.V34L	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1e-24)		2	144	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		34			BTB.		B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	c.100G>C	CCDS8255.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.26|13.26	2.183515|2.183515	0.38609|0.38609	.|.	.|.	ENSG00000259112|ENSG00000151364	ENST00000528251;ENST00000530054|ENST00000353172;ENST00000533144	T;T|T;T	0.58358|0.41065	0.34;0.88|1.01;1.01	4.5|4.5	3.59|3.59	0.41128|0.41128	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.135626	.|0.49916	.|D	.|0.000123	T|T	0.38585|0.38585	0.1046|0.1046	L|L	0.46567|0.46567	1.45|1.45	0.26783|0.26783	N|N	0.969563|0.969563	.|D	.|0.53312	.|0.959	.|P	.|0.50109	.|0.631	T|T	0.15407|0.15407	-1.0438|-1.0438	7|10	0.41790|0.25106	T|T	0.15|0.35	.|.	5.7262|5.7262	0.18015|0.18015	0.0:0.6915:0.0:0.3085|0.0:0.6915:0.0:0.3085	.|.	.|34	.|Q9BQ13	.|KCD14_HUMAN	S|L	59;107|34;4	ENSP00000435967:C59S;ENSP00000432614:C107S|ENSP00000316482:V34L;ENSP00000431155:V4L	ENSP00000435967:C59S|ENSP00000316482:V34L	C|V	-|-	2|1	0|0	RP11-7I15.5|KCTD14	77405955|77405955	0.992000|0.992000	0.36948|0.36948	0.194000|0.194000	0.23346|0.23346	0.207000|0.207000	0.24258|0.24258	3.013000|3.013000	0.49582|0.49582	1.104000|1.104000	0.41587|0.41587	-0.258000|-0.258000	0.10820|0.10820	TGT|GTT		0.502	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		8	46	8	46	---	---	---	---
TRIM29	23650	broad.mit.edu	37	11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647																																						ENST00000341846.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						c.(601-603)cCc>cTc		tripartite motif containing 29							33.0	35.0	34.0					11																	120008138		2203	4300	6503	SO:0001583	missense	23650				transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:120008138G>A	AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.602C>T	11.37:g.120008138G>A	ENSP00000343129:p.Pro201Leu						p.P201L	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)	1	1023	-		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	201					Q96AA9|Q9BZY7	Missense_Mutation	SNP	ENST00000341846.5	37	c.602C>T	CCDS8428.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001438	0.93227	.	.	ENSG00000137699	ENST00000341846	T	0.48201	0.82	5.91	4.98	0.66077	.	0.000000	0.64402	D	0.000001	T	0.61800	0.2376	L	0.58354	1.805	0.80722	D	1	D	0.56521	0.976	P	0.59424	0.857	T	0.61744	-0.7000	9	.	.	.	.	16.8968	0.86102	0.0:0.1281:0.8719:0.0	.	201	Q14134	TRI29_HUMAN	L	201	ENSP00000343129:P201L	.	P	-	2	0	TRIM29	119513348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.622000	0.74233	1.459000	0.47892	0.655000	0.94253	CCC		0.647	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277108.2	NM_012101		7	35	7	35	---	---	---	---
SCN8A	6334	broad.mit.edu	37	12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:52200821T>G	ENST00000354534.6	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	RP11-923I11.3_ENST00000565518.1_lincRNA|AC068987.1_ENST00000599343.1_5'Flank|SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1851					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTTTTGCCTTCACCAAGCG	0.557																																						ENST00000354534.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(5551-5553)Ttc>Gtc		sodium channel, voltage gated, type VIII, alpha subunit	Lamotrigine(DB00555)						94.0	99.0	97.0					12																	52200821		2113	4252	6365	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52200821T>G	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.5551T>G	12.37:g.52200821T>G	ENSP00000346534:p.Phe1851Val					SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	p.F1851V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	27	5729	+								B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.5551T>G	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402471	0.42613	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	D;D	0.96073	-3.9;-3.88	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.97781	1.0232	10	0.87932	D	0	.	15.0094	0.71539	0.0:0.0:0.0:1.0	.	1851	Q9UQD0	SCN8A_HUMAN	V	1851;1810	ENSP00000346534:F1851V;ENSP00000440360:F1810V	ENSP00000346534:F1851V	F	+	1	0	SCN8A	50487088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.139000	0.71728	2.200000	0.70718	0.459000	0.35465	TTC		0.557	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191		26	117	26	117	---	---	---	---
WIF1	11197	broad.mit.edu	37	12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:65514270T>C	ENST00000286574.4	-	2	589	c.215A>G	c.(214-216)aAa>aGa	p.K72R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	72	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)		p.K72I(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTGTTGTGCTTTTCTGAAATC	0.378			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		2	Substitution - Missense(2)	p.K72I(2)	large_intestine(2)	cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(214-216)aAa>aGa		WNT inhibitory factor 1							143.0	148.0	146.0					12																	65514270		2203	4300	6503	SO:0001583	missense	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65514270T>C	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.215A>G	12.37:g.65514270T>C	ENSP00000286574:p.Lys72Arg						p.K72R	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	2	589	-			72			WIF.		Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	37	c.215A>G	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.313457	0.40996	.	.	ENSG00000156076	ENST00000286574;ENST00000546001	D	0.88975	-2.45	5.5	4.29	0.51040	WIF domain (4);	0.051770	0.85682	N	0.000000	T	0.82176	0.4980	L	0.36672	1.1	0.51012	D	0.999906	B	0.02656	0.0	B	0.06405	0.002	T	0.74216	-0.3737	9	.	.	.	.	11.2241	0.48873	0.0:0.0758:0.0:0.9242	.	72	Q9Y5W5	WIF1_HUMAN	R	72;10	ENSP00000286574:K72R	.	K	-	2	0	WIF1	63800537	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.074000	0.57577	0.959000	0.37980	0.533000	0.62120	AAA		0.378	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			5	109	5	109	---	---	---	---
CAND1	55832	broad.mit.edu	37	12	67700301	67700301	+	Silent	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:67700301T>C	ENST00000545606.1	+	10	3290	c.2853T>C	c.(2851-2853)gtT>gtC	p.V951V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	951					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGTTGTTGCTGAATGTC	0.423																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(2851-2853)gtT>gtC		cullin-associated and neddylation-dissociated 1							93.0	95.0	94.0					12																	67700301		2203	4300	6503	SO:0001819	synonymous_variant	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67700301T>C		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2853T>C	12.37:g.67700301T>C							p.V951V	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	3290	+			951					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Silent	SNP	ENST00000545606.1	37	c.2853T>C	CCDS8977.1																																																																																				0.423	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		12	75	12	75	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:25255780G>T	ENST00000381946.3	+	2	257	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ATP12A_ENST00000218548.6_Missense_Mutation_p.K30N			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	30					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		GCAAGGAGAAGTATAGGGGTC	0.473																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6																			0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(88-90)aaG>aaT		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						94.0	93.0	93.0					13																	25255780		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25255780G>T	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.90G>T	13.37:g.25255780G>T	ENSP00000371372:p.Lys30Asn					ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	2	423	+		Lung SC(185;0.0225)|Breast(139;0.077)	30					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.90G>T	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.039780	0.35989	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.93604	-3.25;-3.25	5.32	4.47	0.54385	.	2.567750	0.02076	N	0.051973	D	0.90400	0.6995	N	0.08118	0	0.44098	D	0.996869	P;P	0.44946	0.846;0.761	P;B	0.47470	0.548;0.346	T	0.78718	-0.2095	10	0.51188	T	0.08	.	12.0614	0.53564	0.084:0.0:0.916:0.0	.	30;30	P54707-2;P54707	.;AT12A_HUMAN	N	30	ENSP00000218548:K30N;ENSP00000371372:K30N	ENSP00000218548:K30N	K	+	3	2	ATP12A	24153780	1.000000	0.71417	0.661000	0.29709	0.253000	0.25986	2.712000	0.47186	1.458000	0.47871	0.650000	0.86243	AAG		0.473	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		9	67	9	67	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:48934221T>C	ENST00000267163.4	+	7	814	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	226					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCTTGACTATTTTATTAAACT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		21	Whole gene deletion(15)|Unknown(6)	p.0?(15)|p.?(6)	bone(11)|breast(5)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496						c.(676-678)Ttt>Ctt		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						95.0	95.0	95.0					13																	48934221		2203	4298	6501	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48934221T>C	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.676T>C	13.37:g.48934221T>C	ENSP00000267163:p.Phe226Leu	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.F226L	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	7	814	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	226					A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.676T>C	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	19.00	3.742264	0.69418	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	T	0.68025	-0.3	5.59	5.59	0.84812	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.110762	0.64402	D	0.000007	T	0.65196	0.2668	L	0.55481	1.735	0.52099	D	0.999941	P	0.35684	0.515	B	0.38378	0.272	T	0.67229	-0.5723	10	0.51188	T	0.08	.	14.744	0.69477	0.0:0.0:0.0:1.0	.	226	P06400	RB_HUMAN	L	205;226	ENSP00000267163:F226L	ENSP00000267163:F226L	F	+	1	0	RB1	47832222	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.416000	0.66417	2.126000	0.65437	0.528000	0.53228	TTT		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			19	91	19	91	---	---	---	---
GPC6	10082	broad.mit.edu	37	13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:94482577T>C	ENST00000377047.4	+	3	1105	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	164					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)				GCTCAATGACTTTTGGGCTCG	0.468																																						ENST00000377047.4																			0				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						c.(490-492)Ttt>Ctt		glypican 6							114.0	113.0	114.0					13																	94482577		2203	4300	6503	SO:0001583	missense	10082					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:94482577T>C	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.490T>C	13.37:g.94482577T>C	ENSP00000366246:p.Phe164Leu					GPC6-AS2_ENST00000445540.1_RNA	p.F164L	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN			3	1105	+	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)	164					A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	ENST00000377047.4	37	c.490T>C	CCDS9469.1	.	.	.	.	.	.	.	.	.	.	T	33	5.199221	0.94997	.	.	ENSG00000183098	ENST00000377047	T	0.62232	0.04	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.82213	0.4988	M	0.88979	2.995	0.49915	D	0.999831	D;D	0.76494	0.972;0.999	D;D	0.83275	0.921;0.996	D	0.84913	0.0849	10	0.52906	T	0.07	.	15.9539	0.79865	0.0:0.0:0.0:1.0	.	164;164	B4E2M1;Q9Y625	.;GPC6_HUMAN	L	164	ENSP00000366246:F164L	ENSP00000366246:F164L	F	+	1	0	GPC6	93280578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.655000	0.83696	2.240000	0.73641	0.528000	0.53228	TTT		0.468	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4	NM_005708		4	68	4	68	---	---	---	---
FOXA1	3169	broad.mit.edu	37	14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687																																						ENST00000250448.2																			4	Substitution - Missense(4)	p.M253R(2)|p.M253K(2)	prostate(4)	breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(757-759)aTg>aCg		forkhead box A1							26.0	26.0	26.0					14																	38061231		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr14:38061231A>G	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.758T>C	14.37:g.38061231A>G	ENSP00000250448:p.Met253Thr					FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	p.M253T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	819	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		253					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.758T>C	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922019	0.73213	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95377	-3.69;-3.69	3.92	3.92	0.45320	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.86028	2.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97912	1.0309	10	0.87932	D	0	.	11.8486	0.52399	1.0:0.0:0.0:0.0	.	253	P55317	FOXA1_HUMAN	T	253;220	ENSP00000250448:M253T;ENSP00000440178:M220T	ENSP00000250448:M253T	M	-	2	0	FOXA1	37130982	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.933000	0.92911	1.648000	0.50643	0.329000	0.21502	ATG		0.687	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			4	28	4	28	---	---	---	---
MAP1A	4130	broad.mit.edu	37	15	43815432	43815432	+	Silent	SNP	A	A	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:43815432A>G	ENST00000300231.5	+	4	2211	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E	MAP1A_ENST00000382031.1_Silent_p.E825E|MAP1A_ENST00000399453.1_Silent_p.E587E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	587					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAAGAAGAACATGTGATGA	0.537																																						ENST00000382031.1																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66						c.(2473-2475)gaA>gaG		microtubule-associated protein 1A	Estramustine(DB01196)						37.0	38.0	37.0					15																	43815432		1935	4136	6071	SO:0001819	synonymous_variant	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43815432A>G	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1761A>G	15.37:g.43815432A>G						MAP1A_ENST00000300231.5_Silent_p.E587E|MAP1A_ENST00000399453.1_Silent_p.E587E	p.E825E			P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	5	2506	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	587					O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	c.2475A>G	CCDS42031.1																																																																																				0.537	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		6	22	6	22	---	---	---	---
PRR25	388199	broad.mit.edu	37	16	857600	857600	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:857600A>C	ENST00000301698.1	+	2	597	c.597A>C	c.(595-597)ttA>ttC	p.L199F		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	199										large_intestine(1)|lung(1)|skin(1)	3						CCCTGCATTTAGAGAAGGGGG	0.701																																						ENST00000301698.1																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(595-597)ttA>ttC		proline rich 25							13.0	14.0	14.0					16																	857600		1453	3405	4858	SO:0001583	missense	388199							g.chr16:857600A>C	BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.597A>C	16.37:g.857600A>C	ENSP00000301698:p.Leu199Phe						p.L199F	NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN			2	597	+			199						Missense_Mutation	SNP	ENST00000301698.1	37	c.597A>C	CCDS45372.1	.	.	.	.	.	.	.	.	.	.	A	8.692	0.907690	0.17833	.	.	ENSG00000167945	ENST00000301698	T	0.41758	0.99	0.421	-0.74	0.11115	.	.	.	.	.	T	0.38427	0.1040	N	0.14661	0.345	0.09310	N	1	D	0.62365	0.991	D	0.65323	0.934	T	0.27123	-1.0083	8	0.87932	D	0	.	.	.	.	.	199	Q96S07	PRR25_HUMAN	F	199	ENSP00000301698:L199F	ENSP00000301698:L199F	L	+	3	2	PRR25	797601	0.010000	0.17322	0.019000	0.16419	0.019000	0.09904	0.123000	0.15708	-0.466000	0.06943	-0.475000	0.04921	TTA		0.701	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1	NM_001013638		5	52	5	52	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:65005959G>T	ENST00000268603.4	-	10	2014	c.1399C>A	c.(1399-1401)Cat>Aat	p.H467N	CDH11_ENST00000566827.1_Missense_Mutation_p.H341N|CDH11_ENST00000394156.3_Missense_Mutation_p.H467N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	467	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTTCCTGATGCCGATTGTCT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1399-1401)Cat>Aat		cadherin 11, type 2, OB-cadherin (osteoblast)							91.0	79.0	83.0					16																	65005959		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005959G>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1399C>A	16.37:g.65005959G>T	ENSP00000268603:p.His467Asn	TSP Lung(24;0.17)				CDH11_ENST00000268603.4_Missense_Mutation_p.H467N|CDH11_ENST00000566827.1_Missense_Mutation_p.H341N	p.H467N			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	10	1852	-		Ovarian(137;0.0973)	467			Cadherin 4.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1399C>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.124306	0.37533	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.48836	0.8;0.8	5.91	5.91	0.95273	Cadherin (4);Cadherin-like (1);	0.150804	0.64402	D	0.000012	T	0.33030	0.0849	N	0.12887	0.27	0.45205	D	0.998215	P;B	0.41265	0.744;0.001	B;B	0.41510	0.359;0.012	T	0.09975	-1.0650	10	0.27785	T	0.31	.	14.1587	0.65432	0.0:0.0:0.8504:0.1496	.	467;467	P55287-2;P55287	.;CAD11_HUMAN	N	467;467;450	ENSP00000268603:H467N;ENSP00000377711:H467N	ENSP00000268603:H467N	H	-	1	0	CDH11	63563460	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.737000	0.55060	2.813000	0.96785	0.655000	0.94253	CAT		0.478	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		6	47	6	47	---	---	---	---
DPEP3	64180	broad.mit.edu	37	16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T	rs199567405		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:68010634C>T	ENST00000268793.4	-	8	1511	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	355					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCACCAATCCCGATGAACTCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		21818	0.0		0.001	False		,,,				2504	0.0					ENST00000268793.4																			0				breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20						c.(1138-1140)Ggg>Agg		dipeptidase 3							121.0	93.0	102.0					16																	68010634		2198	4300	6498	SO:0001583	missense	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68010634C>T	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.1138G>A	16.37:g.68010634C>T	ENSP00000268793:p.Gly380Arg						p.G380R	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	8	1511	-		Ovarian(137;0.192)	355					B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	37	c.1138G>A	CCDS10856.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	28.8	4.953251	0.92660	.	.	ENSG00000141096	ENST00000268793	T	0.48522	0.81	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.79125	0.4393	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86783	0.1980	10	0.87932	D	0	-1.0784	16.4999	0.84254	0.0:1.0:0.0:0.0	.	355	Q9H4B8	DPEP3_HUMAN	R	380	ENSP00000268793:G380R	ENSP00000268793:G380R	G	-	1	0	DPEP3	66568135	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.116000	0.64661	2.420000	0.82092	0.655000	0.94253	GGG		0.552	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357		7	46	7	46	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	rs193921065		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:47696424G>T	ENST00000393328.2	-	6	764	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393331.3_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)																												ENST00000393331.3																			7	Substitution - Missense(7)	p.F133L(7)	prostate(7)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(397-399)ttC>ttA		speckle-type POZ protein							118.0	120.0	119.0					17																	47696424		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696424G>T	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.399C>A	17.37:g.47696424G>T	ENSP00000377001:p.Phe133Leu	Prostate(2;0.17)				SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	869	-			133			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.399C>A	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981900	0.74474	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.41	4.33	0.51752	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.80847	2.515	0.80722	D	1	P	0.52692	0.955	P	0.55087	0.768	T	0.62732	-0.6792	10	0.44086	T	0.13	-9.6576	13.4952	0.61421	0.0813:0.0:0.9187:0.0	.	133	O43791	SPOP_HUMAN	L	133;133;133;133;17;133;86;133;133;133;133	ENSP00000377001:F133L;ENSP00000377004:F133L;ENSP00000240327:F133L;ENSP00000425905:F133L;ENSP00000420908:F133L;ENSP00000426986:F133L;ENSP00000420960:F133L;ENSP00000426262:F133L;ENSP00000424119:F133L	ENSP00000240327:F133L	F	-	3	2	SPOP	45051423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.591000	0.36665	1.345000	0.45676	0.563000	0.77884	TTC		0.448	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	135	15	135	---	---	---	---
CDC37	11140	broad.mit.edu	37	19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:10506785C>G	ENST00000222005.2	-	2	250	c.197G>C	c.(196-198)aGg>aCg	p.R66T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	66					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTTCAGTTTCCTCTGGCACTC	0.677																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(196-198)aGg>aCg		cell division cycle 37							85.0	88.0	87.0					19																	10506785		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506785C>G	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.197G>C	19.37:g.10506785C>G	ENSP00000222005:p.Arg66Thr						p.R66T	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	250	-			66					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.197G>C	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	9.284	1.048901	0.19827	.	.	ENSG00000105401	ENST00000222005	T	0.44083	0.93	4.11	3.05	0.35203	Cdc37, N-terminal (1);	0.309736	0.29300	N	0.012551	T	0.28863	0.0716	L	0.34521	1.04	0.35523	D	0.801574	B;B	0.28470	0.213;0.213	B;B	0.31390	0.129;0.129	T	0.33085	-0.9882	10	0.42905	T	0.14	.	5.764	0.18217	0.0:0.7708:0.0:0.2292	.	66;66	Q6FG59;Q16543	.;CDC37_HUMAN	T	66	ENSP00000222005:R66T	ENSP00000222005:R66T	R	-	2	0	CDC37	10367785	0.900000	0.30661	1.000000	0.80357	0.412000	0.31113	0.460000	0.21924	2.013000	0.59113	0.555000	0.69702	AGG		0.677	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		27	122	27	122	---	---	---	---
NPHS1	4868	broad.mit.edu	37	19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:36333346T>G	ENST00000378910.5	-	18	2440	c.2441A>C	c.(2440-2442)tAc>tCc	p.Y814S	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	814	Ig-like C2-type 7.				cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCACTGGTAAGCGCCAGC	0.582																																						ENST00000378910.5																			0				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2440-2442)tAc>tCc		nephrosis 1, congenital, Finnish type (nephrin)							88.0	82.0	84.0					19																	36333346		2203	4300	6503	SO:0001583	missense	4868				cell adhesion|excretion|muscle organ development	integral to plasma membrane		g.chr19:36333346T>G		CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.2441A>C	19.37:g.36333346T>G	ENSP00000368190:p.Tyr814Ser					NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		18	2440	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		814			Ig-like C2-type 7.		A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	c.2441A>C	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.876663	0.72180	.	.	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.94280	-3.39;-3.39	4.46	4.46	0.54185	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133094	0.52532	D	0.000076	D	0.96953	0.9005	M	0.92122	3.275	0.45930	D	0.998762	D	0.89917	1.0	D	0.77557	0.99	D	0.97226	0.9881	10	0.87932	D	0	-15.342	10.1106	0.42561	0.0:0.0:0.0:1.0	.	814	O60500	NPHN_HUMAN	S	814	ENSP00000368190:Y814S;ENSP00000343634:Y814S	ENSP00000343634:Y814S	Y	-	2	0	NPHS1	41025186	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.263000	0.65507	1.890000	0.54733	0.456000	0.33151	TAC		0.582	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1			19	103	19	103	---	---	---	---
ANGPT4	51378	broad.mit.edu	37	20	861826	861826	+	Silent	SNP	C	C	T			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597																																					Pancreas(181;481 2077 3259 31286 49856)	ENST00000381922.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						c.(937-939)acG>acA		angiopoietin 4							61.0	51.0	54.0					20																	861826		2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:861826C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.939G>A	20.37:g.861826C>T						ANGPT4_ENST00000546022.1_Silent_p.T313T	p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN			5	1041	-			313			Fibrinogen C-terminal.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.939G>A	CCDS13009.1																																																																																				0.597	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		9	32	9	32	---	---	---	---
CCDC101	112869	broad.mit.edu	37	16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcafs	p.A70fs		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	70					chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|SAGA-type complex (GO:0070461)	methylated histone binding (GO:0035064)			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGGCCGATGCAGAGGCTGAGT	0.607																																						ENST00000317058.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						c.(208-210)gcafs		coiled-coil domain containing 101							119.0	88.0	99.0					16																	28597027		2197	4300	6497	SO:0001589	frameshift_variant	112869				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding	g.chr16:28597027delA	AK057008	CCDS10635.1	16p11.2	2010-08-03			ENSG00000176476	ENSG00000176476			25156	protein-coding gene	gene with protein product	"""SAGA-associated factor 29 homolog (yeast)"""	613374				17334388	Standard	NM_138414		Approved	FLJ32446, SGF29	uc002dqf.3	Q96ES7	OTTHUMG00000131763	ENST00000317058.3:c.210delA	16.37:g.28597027delA	ENSP00000316114:p.Ala70fs						p.A70fs	NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN			4	397	+			70					Q96MF5	Frame_Shift_Del	DEL	ENST00000317058.3	37	c.210delA	CCDS10635.1																																																																																				0.607	CCDC101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254691.1	NM_138414		21	93	21	93	---	---	---	---
