#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
CCDC27	148870	broad.mit.edu	37	1	3669321	3669321	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:3669321C>G	ENST00000294600.2	+	1	360	c.276C>G	c.(274-276)ctC>ctG	p.L92L		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	92										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CACGCACGCTCAGCAAGTCGG	0.637																																						uc001akv.2		NaN																	0				skin(1)	1						c.(274-276)CTC>CTG		coiled-coil domain containing 27							50.0	49.0	49.0					1																	3669321		2203	4300	6503	SO:0001819	synonymous_variant	148870							g.chr1:3669321C>G		CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.276C>G	1.37:g.3669321C>G							p.L92L	NM_152492	NP_689705	Q2M243	CCD27_HUMAN		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	1	357	+	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)	92					Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	c.276C>G	CCDS50.1																																																																																				0.637	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1		NM_152492		31	23	0	0	0	0.002836	0	31	23		
EMC1	23065	broad.mit.edu	37	1	19549914	19549914	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:19549914G>A	ENST00000477853.1	-	19	2394	c.2352C>T	c.(2350-2352)atC>atT	p.I784I	EMC1_ENST00000375208.3_Silent_p.I762I|EMC1_ENST00000480380.1_5'Flank|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375199.3_Silent_p.I783I	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	784						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)		p.I784I(1)									CTGAATGCACGATATGGACAG	0.537																																						uc001bbo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(2350-2352)ATC>ATT		hypothetical protein LOC23065 precursor							268.0	231.0	244.0					1																	19549914		2203	4300	6503	SO:0001819	synonymous_variant	23065					integral to membrane	protein binding	g.chr1:19549914G>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2352C>T	1.37:g.19549914G>A						KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Silent_p.I783I|KIAA0090_uc001bbq.2_Silent_p.I783I|KIAA0090_uc001bbr.2_Silent_p.I762I	p.I784I	NM_015047	NP_055862	Q8N766	K0090_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)	19	2395	-		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)	784			DUF1620.|Extracellular (Potential).		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.2352C>T	CCDS190.1	.	.	.	.	.	.	.	.	.	.	G	8.189	0.795509	0.16327	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.69	-4.12	0.03916	.	.	.	.	.	T	0.62502	0.2433	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62440	-0.6854	4	.	.	.	-18.7869	13.7423	0.62855	0.5245:0.0:0.4755:0.0	.	.	.	.	C	518	.	.	R	-	1	0	KIAA0090	19422501	0.021000	0.18746	0.866000	0.34008	0.871000	0.50021	-0.813000	0.04491	-0.694000	0.05113	-0.448000	0.05591	CGT		0.537	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2		NM_015047		86	163	0	0	0	0.00361	0	86	163		
PTP4A2	8073	broad.mit.edu	37	1	32384631	32384631	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:32384631C>G	ENST00000602725.1	-	1	453	c.36G>C	c.(34-36)gaG>gaC	p.E12D	PTP4A2_ENST00000457805.2_Missense_Mutation_p.E12D|PTP4A2_ENST00000344035.6_Missense_Mutation_p.E12D|PTP4A2_ENST00000356536.3_Missense_Mutation_p.E12D|PTP4A2_ENST00000526960.1_5'Flank|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_Missense_Mutation_p.E12D			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	12					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				AACGCATGTTCTCATAGGAGA	0.413																																						uc001bty.1		NaN																	0					0						c.(34-36)GAG>GAC		protein tyrosine phosphatase type IVA, member 2							128.0	116.0	120.0					1																	32384631		2203	4300	6503	SO:0001583	missense	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32384631C>G	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.36G>C	1.37:g.32384631C>G	ENSP00000473259:p.Glu12Asp					PTP4A2_uc010ogs.1_Missense_Mutation_p.E12D|PTP4A2_uc001btz.1_Missense_Mutation_p.E12D	p.E12D	NM_080391	NP_536316	Q12974	TP4A2_HUMAN			2	1030	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	12					A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	c.36G>C	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600362	0.28534	.	.	ENSG00000184007	ENST00000344035;ENST00000356536;ENST00000457805;ENST00000470404;ENST00000468531;ENST00000534796	D;D	0.94966	-3.57;-3.57	4.8	3.83	0.44106	.	0.280979	0.38837	N	0.001552	D	0.85831	0.5788	N	0.05574	-0.02	0.37177	D	0.903327	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.81669	-0.0828	10	0.44086	T	0.13	-34.2088	8.9493	0.35779	0.0:0.7635:0.1459:0.0907	.	12;12;12	E9PGJ6;Q12974-2;Q12974	.;.;TP4A2_HUMAN	D	12	ENSP00000344909:E12D;ENSP00000409260:E12D	ENSP00000344909:E12D	E	-	3	2	PTP4A2	32157218	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	0.361000	0.20267	1.050000	0.40346	-0.355000	0.07637	GAG		0.413	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1		NM_080391		34	42	0	0	0	0.003271	0	34	42		
MACF1	23499	broad.mit.edu	37	1	39550081	39550081	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:39550081C>T	ENST00000372915.3	+	1	278	c.191C>T	c.(190-192)cCt>cTt	p.P64L	MACF1_ENST00000567887.1_Missense_Mutation_p.P64L|MACF1_ENST00000602421.1_Missense_Mutation_p.P64L|MACF1_ENST00000484793.1_Missense_Mutation_p.P64L|MACF1_ENST00000317713.7_Missense_Mutation_p.P64L|MACF1_ENST00000361689.2_Missense_Mutation_p.P64L|MACF1_ENST00000539005.1_Missense_Mutation_p.P64L|MACF1_ENST00000545844.1_Missense_Mutation_p.P64L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	64	Actin-binding.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCTGGACCCTGCAGAGCGT	0.632																																						uc010ois.1		NaN																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(190-192)CCT>CTT		microfilament and actin filament cross-linker							34.0	28.0	30.0					1																	39550081		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39550081C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.191C>T	1.37:g.39550081C>T	ENSP00000362006:p.Pro64Leu					MACF1_uc010oir.1_Silent_p.L60L	p.P64L	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		3	396	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	64			Actin-binding.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.191C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.745801	0.89663	.	.	ENSG00000127603	ENST00000484793;ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005	D;D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64;-3.64	5.55	5.55	0.83447	.	.	.	.	.	D	0.91327	0.7265	L	0.34521	1.04	0.80722	D	1	B	0.10296	0.003	B	0.01281	0.0	D	0.87487	0.2424	9	0.72032	D	0.01	.	17.013	0.86411	0.0:1.0:0.0:0.0	.	64	F8W8Q1	.	L	64;64;64;64;80;64;64	ENSP00000439537:P64L;ENSP00000362006:P64L;ENSP00000354573:P64L;ENSP00000313438:P64L;ENSP00000444364:P64L	ENSP00000313438:P64L	P	+	2	0	MACF1	39322668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.086000	0.76885	2.611000	0.88343	0.655000	0.94253	CCT		0.632	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044		19	20	0	0	0	0.008871	0	19	20		
SSBP3	23648	broad.mit.edu	37	1	54867580	54867580	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:54867580C>G	ENST00000371320.3	-	4	640	c.230G>C	c.(229-231)aGa>aCa	p.R77T	SSBP3_ENST00000417664.2_5'UTR|SSBP3_ENST00000357475.4_Missense_Mutation_p.R77T|SSBP3_ENST00000371319.3_Missense_Mutation_p.R77T	NM_145716.2	NP_663768.1	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3	77					head morphogenesis (GO:0060323)|hematopoietic progenitor cell differentiation (GO:0002244)|midbrain-hindbrain boundary initiation (GO:0021547)|positive regulation of anterior head development (GO:2000744)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prechordal plate formation (GO:0021501)|protein complex assembly (GO:0006461)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|protein complex (GO:0043234)	single-stranded DNA binding (GO:0003697)			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	11						ACAAGTGTCTCTCCTTTCAGG	0.368																																						uc001cxe.2		NaN																	0					0						c.(229-231)AGA>ACA		single stranded DNA binding protein 3 isoform a							82.0	84.0	84.0					1																	54867580		2203	4300	6503	SO:0001583	missense	23648				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding	g.chr1:54867580C>G		CCDS590.1, CCDS591.1, CCDS30726.1	1p32.3	2008-02-05	2001-11-28		ENSG00000157216	ENSG00000157216			15674	protein-coding gene	gene with protein product		607390	"""single-stranded DNA-binding protein 3"""			12079286	Standard	NM_145716		Approved	CSDP, SSDP, FLJ10355, SSDP1	uc001cxe.4	Q9BWW4	OTTHUMG00000008264	ENST00000371320.3:c.230G>C	1.37:g.54867580C>G	ENSP00000360371:p.Arg77Thr					SSBP3_uc001cxf.2_Missense_Mutation_p.R77T|SSBP3_uc001cxg.2_Missense_Mutation_p.R77T	p.R77T	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN			4	528	-			77					A8K0A9|Q5T860|Q5T861|Q9BTM0|Q9BWW3	Missense_Mutation	SNP	ENST00000371320.3	37	c.230G>C	CCDS591.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787488	0.90367	.	.	ENSG00000157216	ENST00000371320;ENST00000371319;ENST00000357475	.	.	.	4.8	4.8	0.61643	.	0.000000	0.64402	U	0.000003	T	0.78483	0.4290	M	0.72118	2.19	0.80722	D	1	D;D;D	0.69078	0.992;0.997;0.988	D;D;P	0.71656	0.974;0.913;0.821	T	0.81600	-0.0859	9	0.87932	D	0	-14.5974	18.2479	0.89993	0.0:1.0:0.0:0.0	.	77;77;77	Q9BWW4-2;Q9BWW4-3;Q9BWW4	.;.;SSBP3_HUMAN	T	77	.	ENSP00000350067:R77T	R	-	2	0	SSBP3	54640168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.366000	0.80165	0.455000	0.32223	AGA		0.368	SSBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022721.1		NM_018070		42	57	0	0	0	0.00361	0	42	57		
ABCD3	5825	broad.mit.edu	37	1	94964399	94964399	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:94964399C>G	ENST00000370214.4	+	18	1549	c.1525C>G	c.(1525-1527)Cct>Gct	p.P509A	ABCD3_ENST00000394233.2_Missense_Mutation_p.P399A|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Missense_Mutation_p.P436A|ABCD3_ENST00000454898.2_Missense_Mutation_p.P533A	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	509	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTTTATGTTCCTCAGGTAAG	0.318																																						uc001dqn.3		NaN																	0				skin(1)	1						c.(1525-1527)CCT>GCT		ATP-binding cassette, sub-family D, member 3							94.0	91.0	92.0					1																	94964399		2203	4300	6503	SO:0001583	missense	5825				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94964399C>G	M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1525C>G	1.37:g.94964399C>G	ENSP00000359233:p.Pro509Ala					ABCD3_uc010oto.1_Missense_Mutation_p.P533A|ABCD3_uc010otp.1_Missense_Mutation_p.P436A|ABCD3_uc009wdr.2_Missense_Mutation_p.P399A|ABCD3_uc001dqo.3_Missense_Mutation_p.P197A	p.P509A	NM_002858	NP_002849	P28288	ABCD3_HUMAN		all cancers(265;0.0261)|Epithelial(280;0.165)	18	1627	+		all_lung(203;0.000434)|Lung NSC(277;0.0019)	509			ABC transporter.		D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	ENST00000370214.4	37	c.1525C>G	CCDS749.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652917	0.88056	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99859	-7.24;-7.24;-7.24;-7.24	5.97	5.97	0.96955	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	L	0.51914	1.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;1.0	D	0.97139	0.9823	10	0.87932	D	0	-12.6032	20.4135	0.99023	0.0:1.0:0.0:0.0	.	533;399;509	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	A	399;533;436;509	ENSP00000377780:P399A;ENSP00000403357:P533A;ENSP00000440692:P436A;ENSP00000359233:P509A	ENSP00000359233:P509A	P	+	1	0	ABCD3	94736987	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.223000	0.78033	2.835000	0.97688	0.591000	0.81541	CCT		0.318	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029597.1		NM_002858		38	42	0	0	0	0.00623	0	38	42		
AGL	178	broad.mit.edu	37	1	100366410	100366410	+	Missense_Mutation	SNP	G	G	A	rs370685884		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:100366410G>A	ENST00000294724.4	+	26	4059	c.3581G>A	c.(3580-3582)gGc>gAc	p.G1194D	AGL_ENST00000370165.3_Missense_Mutation_p.G1194D|AGL_ENST00000370161.2_Missense_Mutation_p.G1178D|AGL_ENST00000361522.4_Missense_Mutation_p.G1177D|AGL_ENST00000361302.3_Missense_Mutation_p.G1178D|AGL_ENST00000370163.3_Missense_Mutation_p.G1194D|AGL_ENST00000361915.3_Missense_Mutation_p.G1194D	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1194					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTGCCTGCTGGCACACTGGTA	0.318																																						uc001dsi.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3580-3582)GGC>GAC		amylo-1,6-glucosidase,		G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	1,4405		0,1,2202	127.0	121.0	123.0		3581,3581,3581,3581,3530,3533	5.6	1.0	1		123	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	AGL	NM_000028.2,NM_000642.2,NM_000643.2,NM_000644.2,NM_000645.2,NM_000646.2	94,94,94,94,94,94	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1194/1533,1194/1533,1194/1533,1194/1533,1177/1516,1178/1517	100366410	1,13005	2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100366410G>A	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3581G>A	1.37:g.100366410G>A	ENSP00000294724:p.Gly1194Asp					AGL_uc001dsj.1_Missense_Mutation_p.G1194D|AGL_uc001dsk.1_Missense_Mutation_p.G1194D|AGL_uc001dsl.1_Missense_Mutation_p.G1194D|AGL_uc001dsm.1_Missense_Mutation_p.G1178D|AGL_uc001dsn.1_Missense_Mutation_p.G1177D	p.G1194D	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	26	3981	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1194			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3581G>A	CCDS759.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441509	0.83993	2.27E-4	0.0	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86	5.61	5.61	0.85477	Six-hairpin glycosidase-like (1);	0.102560	0.64402	D	0.000002	T	0.80358	0.4608	M	0.79693	2.465	0.80722	D	1	P;P;P	0.46578	0.855;0.855;0.88	P;P;P	0.52758	0.584;0.584;0.708	T	0.78334	-0.2244	10	0.33940	T	0.23	-15.6019	19.6248	0.95674	0.0:0.0:1.0:0.0	.	1177;1178;1194	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	D	1194;1194;1194;1194;1178;1178;1177	ENSP00000355106:G1194D;ENSP00000359184:G1194D;ENSP00000359182:G1194D;ENSP00000294724:G1194D;ENSP00000354971:G1178D;ENSP00000359180:G1178D;ENSP00000354635:G1177D	ENSP00000294724:G1194D	G	+	2	0	AGL	100138998	1.000000	0.71417	0.986000	0.45419	0.863000	0.49368	8.490000	0.90464	2.629000	0.89072	0.650000	0.86243	GGC		0.318	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1		NM_000028		4	144	0	0	0	0.000248	0	4	144		
ANP32E	81611	broad.mit.edu	37	1	150198965	150198965	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:150198965G>A	ENST00000314136.8	-	5	1025	c.656C>T	c.(655-657)tCa>tTa	p.S219L	ANP32E_ENST00000369119.3_Missense_Mutation_p.S171L|ANP32E_ENST00000533654.1_Missense_Mutation_p.H164Y|ANP32E_ENST00000369114.5_Intron|ANP32E_ENST00000369115.2_Missense_Mutation_p.S87L|ANP32E_ENST00000436748.2_Missense_Mutation_p.S178L|ANP32E_ENST00000369116.4_Missense_Mutation_p.S87L	NM_001136478.2|NM_001280559.1|NM_030920.3	NP_001129950.1|NP_001267488.1|NP_112182.1	Q9BTT0	AN32E_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member E	219	Asp/Glu-rich (highly acidic).|ZID domain.				histone exchange (GO:0043486)|negative regulation of catalytic activity (GO:0043086)	cytoplasmic membrane-bounded vesicle (GO:0016023)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	histone binding (GO:0042393)|phosphatase inhibitor activity (GO:0019212)			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTAAGTATGAGAGGCCCAC	0.413																																						uc001etw.2		NaN																	0					0						c.(655-657)TCA>TTA		acidic (leucine-rich) nuclear phosphoprotein 32							304.0	269.0	281.0					1																	150198965		2203	4300	6503	SO:0001583	missense	81611					cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity	g.chr1:150198965G>A	AK092672	CCDS946.1, CCDS44214.1, CCDS44215.1, CCDS60245.1	1q22	2008-02-05			ENSG00000143401	ENSG00000143401		"""ANP32 acidic nuclear phosphoproteins"""	16673	protein-coding gene	gene with protein product		609611				12438741	Standard	NM_030920		Approved	LANPL, MGC5350, LANP-L	uc001etw.3	Q9BTT0	OTTHUMG00000012547	ENST00000314136.8:c.656C>T	1.37:g.150198965G>A	ENSP00000324074:p.Ser219Leu					ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.S171L|ANP32E_uc010pbv.1_Missense_Mutation_p.S178L|ANP32E_uc001etv.3_Missense_Mutation_p.S219L|ANP32E_uc010pbw.1_Missense_Mutation_p.H164Y	p.S219L	NM_030920	NP_112182	Q9BTT0	AN32E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	1026	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		219			Asp/Glu-rich (highly acidic).		B4E0I6|E9PEA6|Q5TB18|Q5TB20|Q8N1S4|Q8WWW9	Missense_Mutation	SNP	ENST00000314136.8	37	c.656C>T	CCDS946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.18|19.18	3.777303|3.777303	0.70107|0.70107	.|.	.|.	ENSG00000143401|ENSG00000143401	ENST00000533654|ENST00000314136;ENST00000369119;ENST00000369116;ENST00000436748;ENST00000534437;ENST00000369115;ENST00000534220	T|T;T;T	0.20738|0.00307	2.05|8.17;8.17;8.17	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.072403	.|0.56097	.|D	.|0.000026	T|T	0.00241|0.00241	0.0007|0.0007	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P|D;D;D	0.41569|0.76494	0.755|0.999;0.998;0.998	P|D;D;D	0.44990|0.80764	0.466|0.994;0.987;0.987	D|D	0.94018|0.94018	0.7290|0.7290	9|10	0.56958|0.62326	D|D	0.05|0.03	.|.	17.8654|17.8654	0.88794|0.88794	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	164|178;219;171	E9PLC4|E9PEA6;Q9BTT0;Q5TB20	.|.;AN32E_HUMAN;.	Y|L	164|219;171;87;178;33;87;97	ENSP00000435215:H164Y|ENSP00000324074:S219L;ENSP00000358115:S171L;ENSP00000393718:S178L	ENSP00000435215:H164Y|ENSP00000324074:S219L	H|S	-|-	1|2	0|0	ANP32E|ANP32E	148465589|148465589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	8.521000|8.521000	0.90569|0.90569	2.552000|2.552000	0.86080|0.86080	0.561000|0.561000	0.74099|0.74099	CAT|TCA		0.413	ANP32E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035056.1		NM_030920		43	52	0	0	0	0.00361	0	43	52		
CRTC2	200186	broad.mit.edu	37	1	153921728	153921728	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:153921728G>C	ENST00000368633.1	-	12	1664	c.1537C>G	c.(1537-1539)Cag>Gag	p.Q513E	CRTC2_ENST00000368630.3_Missense_Mutation_p.Q193E|DENND4B_ENST00000361217.4_5'Flank	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	513					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAACAAGACTGAGAGGGCAGC	0.617																																						uc010ped.1		NaN																	0				ovary(2)	2						c.(1537-1539)CAG>GAG		CREB regulated transcription coactivator 2							58.0	59.0	58.0					1																	153921728		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153921728G>C	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1537C>G	1.37:g.153921728G>C	ENSP00000357622:p.Gln513Glu					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.Q49E	p.Q513E	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	1607	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		513					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1537C>G	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	g	0.214	-1.034501	0.02029	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.46451	0.87;2.72	4.91	4.91	0.64330	.	0.356561	0.27901	N	0.017385	T	0.22704	0.0548	L	0.36672	1.1	0.33036	D	0.530748	P;B	0.42409	0.779;0.431	B;B	0.41236	0.351;0.136	T	0.09751	-1.0660	10	0.44086	T	0.13	-9.5066	13.4796	0.61328	0.0:0.0:1.0:0.0	.	513;193	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	E	193;513	ENSP00000357619:Q193E;ENSP00000357622:Q513E	ENSP00000357619:Q193E	Q	-	1	0	CRTC2	152188352	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	3.343000	0.52167	2.555000	0.86185	0.450000	0.29827	CAG		0.617	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3		NM_181715		45	45	0	0	0	0.002522	0	45	45		
YY1AP1	55249	broad.mit.edu	37	1	155629952	155629952	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:155629952C>G	ENST00000295566.4	-	11	1910	c.1887G>C	c.(1885-1887)caG>caC	p.Q629H	YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q552H|YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q552H|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q583H|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q583H|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.Q701H|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q572H|YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q563H|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q721H|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q583H|YY1AP1_ENST00000535662.1_Missense_Mutation_p.Q429H|YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q572H	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	629					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCTGGGGACTCTGGGCCACAG	0.542																																						uc001fln.2		NaN																	0				ovary(2)|skin(1)	3						c.(1885-1887)CAG>CAC		YY1-associated protein isoform 2							80.0	75.0	77.0					1																	155629952		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629952C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1887G>C	1.37:g.155629952C>G	ENSP00000295566:p.Gln629His					YY1AP1_uc001flg.2_Missense_Mutation_p.Q368H|YY1AP1_uc010pgg.1_Missense_Mutation_p.Q468H|YY1AP1_uc010pgh.1_Missense_Mutation_p.Q572H|YY1AP1_uc010pgi.1_Missense_Mutation_p.Q721H|YY1AP1_uc001flh.2_Missense_Mutation_p.Q701H|YY1AP1_uc009wqt.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flk.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fll.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqv.2_Missense_Mutation_p.Q300H|YY1AP1_uc001flm.2_Missense_Mutation_p.Q572H|YY1AP1_uc001fli.2_Missense_Mutation_p.Q583H|YY1AP1_uc009wqu.2_Missense_Mutation_p.Q416H|YY1AP1_uc001flj.2_Missense_Mutation_p.Q563H|YY1AP1_uc009wqw.2_Missense_Mutation_p.Q552H|YY1AP1_uc001flo.2_Missense_Mutation_p.Q517H|YY1AP1_uc001flp.2_Missense_Mutation_p.Q583H	p.Q629H	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	1911	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		629					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.1887G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.332923	0.41297	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.25579	1.82;1.82;1.83;1.82;1.82;1.8;1.82;1.82;1.83;1.83;1.79;1.83	2.53	-2.47	0.06442	.	0.755745	0.12202	N	0.490147	T	0.13457	0.0326	L	0.47716	1.5	0.09310	N	1	P;D;P;D;D	0.65815	0.804;0.967;0.914;0.966;0.995	P;P;P;P;P	0.56823	0.46;0.73;0.763;0.807;0.742	T	0.07635	-1.0762	10	0.29301	T	0.29	.	5.1523	0.15017	0.0:0.3604:0.1521:0.4875	.	721;563;629;583;701	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	H	572;583;552;583;572;701;629;583;552;563;721;429	ENSP00000352134:Q572H;ENSP00000347686:Q583H;ENSP00000311138:Q552H;ENSP00000316079:Q583H;ENSP00000355298:Q572H;ENSP00000357324:Q701H;ENSP00000295566:Q629H;ENSP00000357314:Q583H;ENSP00000385791:Q552H;ENSP00000385390:Q563H;ENSP00000357323:Q721H;ENSP00000437926:Q429H	ENSP00000295566:Q629H	Q	-	3	2	YY1AP1	153896576	0.005000	0.15991	0.779000	0.31741	0.927000	0.56198	0.270000	0.18607	-0.810000	0.04375	0.306000	0.20318	CAG		0.542	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		48	44	0	0	0	0.00361	0	48	44		
HMCN1	83872	broad.mit.edu	37	1	186034488	186034488	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:186034488C>T	ENST00000271588.4	+	49	7861	c.7632C>T	c.(7630-7632)caC>caT	p.H2544H	HMCN1_ENST00000367492.2_Silent_p.H2544H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2544	Ig-like C2-type 23.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTGCCACACACTGGAAGAT	0.458																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(7630-7632)CAC>CAT		hemicentin 1 precursor							84.0	77.0	80.0					1																	186034488		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186034488C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7632C>T	1.37:g.186034488C>T							p.H2544H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			49	7861	+			2544			Ig-like C2-type 23.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7632C>T	CCDS30956.1																																																																																				0.458	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		4	34	0	0	0	0.000248	0	4	34		
HMCN1	83872	broad.mit.edu	37	1	186062644	186062644	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:186062644G>C	ENST00000271588.4	+	66	10268	c.10039G>C	c.(10039-10041)Gat>Cat	p.D3347H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D3347H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3347	Ig-like C2-type 32.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGTAATAAAGATGAAGCAGA	0.383																																						uc001grq.1		NaN																	0				ovary(22)|skin(1)	23						c.(10039-10041)GAT>CAT		hemicentin 1 precursor							81.0	92.0	89.0					1																	186062644		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186062644G>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10039G>C	1.37:g.186062644G>C	ENSP00000271588:p.Asp3347His						p.D3347H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			66	10268	+			3347			Ig-like C2-type 32.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10039G>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869322	0.51588	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65916	-0.17;-0.18	5.28	3.35	0.38373	Immunoglobulin-like (1);	0.842175	0.11206	N	0.588228	T	0.58708	0.2141	L	0.34521	1.04	0.22001	N	0.999427	P	0.43477	0.808	P	0.47941	0.562	T	0.46679	-0.9174	10	0.46703	T	0.11	.	10.3965	0.44203	0.2275:0.0:0.7725:0.0	.	3347	Q96RW7	HMCN1_HUMAN	H	3347	ENSP00000271588:D3347H;ENSP00000356462:D3347H	ENSP00000271588:D3347H	D	+	1	0	HMCN1	184329267	0.968000	0.33430	0.944000	0.38274	0.719000	0.41307	2.740000	0.47418	0.565000	0.29255	0.585000	0.79938	GAT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935		62	62	0	0	0	0.00361	0	62	62		
CR2	1380	broad.mit.edu	37	1	207647168	207647168	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:207647168G>C	ENST00000367058.3	+	11	2190	c.2001G>C	c.(1999-2001)caG>caC	p.Q667H	CR2_ENST00000367057.3_Missense_Mutation_p.Q726H|CR2_ENST00000458541.2_Missense_Mutation_p.Q640H|CR2_ENST00000367059.3_Missense_Mutation_p.Q667H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	667	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.			Q -> D (in Ref. 10; AA sequence). {ECO:0000305}.	B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATGTGAGACAGAGTCTTCAAG	0.418																																						uc001hfw.2		NaN																	0				upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1999-2001)CAG>CAC		complement component (3d/Epstein Barr virus)							129.0	129.0	129.0					1																	207647168		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207647168G>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2001G>C	1.37:g.207647168G>C	ENSP00000356025:p.Gln667His					CR2_uc001hfv.2_Missense_Mutation_p.Q726H|CR2_uc009xch.2_Missense_Mutation_p.Q667H	p.Q667H	NM_001877	NP_001868	P20023	CR2_HUMAN			11	2095	+			667	Q -> D (in Ref. 10; AA sequence).		Sushi 11.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2001G>C	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	G	7.550	0.662466	0.14645	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.32988	1.54;1.43;1.55;1.48	4.11	-3.92	0.04155	Sushi/SCR/CCP (2);	.	.	.	.	T	0.11665	0.0284	N	0.03608	-0.345	0.09310	N	1	B;B;P	0.35894	0.151;0.0;0.526	B;B;B	0.40101	0.081;0.001;0.319	T	0.14839	-1.0458	9	0.46703	T	0.11	.	0.7983	0.01070	0.2397:0.3246:0.1163:0.3195	.	667;667;726	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	667;726;667;640	ENSP00000356025:Q667H;ENSP00000356024:Q726H;ENSP00000356026:Q667H;ENSP00000404222:Q640H	ENSP00000356024:Q726H	Q	+	3	2	CR2	205713791	0.012000	0.17670	0.000000	0.03702	0.194000	0.23727	0.200000	0.17257	-1.252000	0.02491	0.655000	0.94253	CAG		0.418	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1		NM_001877		66	71	0	0	0	0.00361	0	66	71		
CD34	947	broad.mit.edu	37	1	208061201	208061201	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:208061201G>A	ENST00000310833.7	-	8	1361	c.1040C>T	c.(1039-1041)cCt>cTt	p.P347L	CD34_ENST00000537704.1_Missense_Mutation_p.P212L|CD34_ENST00000356522.4_3'UTR|CD34_ENST00000367036.3_Missense_Mutation_p.P189L|CD34_ENST00000485761.1_Intron	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	347					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGAGCCTCAGGGGAGGTCCC	0.557																																						uc001hgw.1		NaN																	0				ovary(1)	1						c.(1039-1041)CCT>CTT		CD34 antigen isoform a							76.0	66.0	69.0					1																	208061201		2203	4300	6503	SO:0001583	missense	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208061201G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.1040C>T	1.37:g.208061201G>A	ENSP00000310036:p.Pro347Leu					CD34_uc001hgv.1_Missense_Mutation_p.P189L|CD34_uc001hgx.1_3'UTR|CD34_uc010psj.1_Missense_Mutation_p.P212L	p.P347L	NM_001025109	NP_001020280	P28906	CD34_HUMAN			8	1298	-			347			Cytoplasmic (Potential).		A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Missense_Mutation	SNP	ENST00000310833.7	37	c.1040C>T	CCDS31011.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496290	0.85069	.	.	ENSG00000174059	ENST00000310833;ENST00000367036;ENST00000537704;ENST00000367037	T;T;T	0.26067	1.76;1.76;1.76	4.93	4.93	0.64822	.	0.349077	0.27331	N	0.019847	T	0.48857	0.1523	M	0.70595	2.14	0.48288	D	0.99962	D;D;D	0.64830	0.994;0.983;0.994	P;D;D	0.68943	0.864;0.961;0.918	T	0.50923	-0.8770	10	0.87932	D	0	-5.4283	14.0094	0.64486	0.0:0.0:1.0:0.0	.	212;347;189	B4DG27;P28906;Q5JTA5	.;CD34_HUMAN;.	L	347;189;212;317	ENSP00000310036:P347L;ENSP00000356003:P189L;ENSP00000442874:P212L	ENSP00000310036:P347L	P	-	2	0	CD34	206127824	0.601000	0.26907	0.993000	0.49108	0.998000	0.95712	2.522000	0.45572	2.444000	0.82710	0.555000	0.69702	CCT		0.557	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1		NM_001773		32	26	0	0	0	0.001786	0	32	26		
CENPF	1063	broad.mit.edu	37	1	214826232	214826232	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:214826232C>T	ENST00000366955.3	+	16	8390	c.8222C>T	c.(8221-8223)tCa>tTa	p.S2741L	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2837	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGTCTCAGTTCACAGAAGCTG	0.328																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2		NaN																	0				ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(8221-8223)TCA>TTA		centromere protein F							88.0	91.0	90.0					1																	214826232		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214826232C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8222C>T	1.37:g.214826232C>T	ENSP00000355922:p.Ser2741Leu						p.S2741L	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	16	8396	+			2837			Potential.|Sufficient for self-association.|Sufficient for centromere localization.		Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.8222C>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	5.793	0.330589	0.10956	.	.	ENSG00000117724	ENST00000366955;ENST00000391896	T	0.03242	4.0	3.65	2.72	0.32119	.	.	.	.	.	T	0.02610	0.0079	N	0.19112	0.55	0.09310	N	1	B	0.24483	0.104	B	0.23150	0.044	T	0.44143	-0.9347	9	0.28530	T	0.3	.	5.8502	0.18689	0.0:0.6921:0.1989:0.109	.	2837	P49454	CENPF_HUMAN	L	2741;140	ENSP00000355922:S2741L	ENSP00000355922:S2741L	S	+	2	0	CENPF	212892855	0.000000	0.05858	0.021000	0.16686	0.529000	0.34654	0.014000	0.13333	1.601000	0.50113	0.511000	0.50034	TCA		0.328	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1		NM_016343		40	39	0	0	0	0.00623	0	40	39		
BROX	148362	broad.mit.edu	37	1	222902115	222902115	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:222902115A>G	ENST00000340934.5	+	9	1107	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	BROX_ENST00000537020.1_Missense_Mutation_p.Y234C|BROX_ENST00000539697.1_Missense_Mutation_p.Y202C	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	234	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GAGCCTGCATATTCTGCCAAA	0.318																																						uc001hnq.1		NaN																	0					0						c.(700-702)TAT>TGT		Bro1-domain-containing protein							89.0	90.0	90.0					1																	222902115		2203	4300	6503	SO:0001583	missense	148362					membrane		g.chr1:222902115A>G		CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.701A>G	1.37:g.222902115A>G	ENSP00000343742:p.Tyr234Cys					C1orf58_uc010put.1_Missense_Mutation_p.Y202C|C1orf58_uc010puu.1_Missense_Mutation_p.Y234C|C1orf58_uc010puv.1_Missense_Mutation_p.Y202C|uc001hnr.1_RNA	p.Y234C	NM_144695	NP_653296	Q5VW32	BROX_HUMAN		GBM - Glioblastoma multiforme(131;0.0667)	9	1096	+			234			BRO1.		B7Z9G5|Q96MG1	Missense_Mutation	SNP	ENST00000340934.5	37	c.701A>G	CCDS1534.1	.	.	.	.	.	.	.	.	.	.	a	11.72	1.722347	0.30503	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	T;T;T	0.16743	2.32;2.32;2.32	5.86	4.74	0.60224	BRO1 domain (3);	0.168192	0.56097	D	0.000031	T	0.11750	0.0286	N	0.16307	0.4	0.52099	D	0.999946	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.003	T	0.05818	-1.0862	10	0.49607	T	0.09	-2.8303	11.8228	0.52250	0.9318:0.0:0.0682:0.0	.	234;202;234	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	C	234;234;202	ENSP00000343742:Y234C;ENSP00000440041:Y234C;ENSP00000441080:Y202C	ENSP00000343742:Y234C	Y	+	2	0	BROX	220968738	1.000000	0.71417	0.905000	0.35620	0.981000	0.71138	3.309000	0.51903	1.056000	0.40484	0.477000	0.44152	TAT		0.318	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091815.2		NM_144695		22	25	0	0	0	0.00278	0	22	25		
MTR	4548	broad.mit.edu	37	1	237060354	237060354	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:237060354C>G	ENST00000366577.5	+	32	4041	c.3647C>G	c.(3646-3648)tCa>tGa	p.S1216*	MTR_ENST00000535889.1_Nonsense_Mutation_p.S1165*|MTR_ENST00000470570.1_3'UTR	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1216	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAGCAGTCTCAGGCCTCTAC	0.453																																						uc001hyi.3		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3646-3648)TCA>TGA		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						197.0	198.0	198.0					1																	237060354		2203	4300	6503	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237060354C>G	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3647C>G	1.37:g.237060354C>G	ENSP00000355536:p.Ser1216*					MTR_uc010pxw.1_Nonsense_Mutation_p.S809*|MTR_uc010pxx.1_Nonsense_Mutation_p.S1165*|MTR_uc010pxy.1_Nonsense_Mutation_p.S1070*	p.S1216*	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	32	4070	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	1216			AdoMet activation.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.3647C>G	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	39	7.489574	0.98316	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.6648	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	1070;1216;1165;770	.	ENSP00000355535:S770X	S	+	2	0	MTR	235126977	1.000000	0.71417	0.675000	0.29917	0.830000	0.47004	7.229000	0.78088	2.780000	0.95670	0.655000	0.94253	TCA		0.453	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2		NM_000254		103	115	0	0	0	0.00361	0	103	115		
RYR2	6262	broad.mit.edu	37	1	237949319	237949319	+	Silent	SNP	T	T	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:237949319T>A	ENST00000366574.2	+	91	13628	c.13311T>A	c.(13309-13311)tcT>tcA	p.S4437S	RYR2_ENST00000360064.6_Silent_p.S4443S|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.S4421S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4437	Glu-rich (acidic).				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			aaACCAAATCTGAACCTGAAA	0.378																																						uc001hyl.1		NaN																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13309-13311)TCT>TCA		cardiac muscle ryanodine receptor							123.0	128.0	126.0					1																	237949319		1834	4095	5929	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237949319T>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13311T>A	1.37:g.237949319T>A						RYR2_uc010pya.1_Silent_p.S852S	p.S4437S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		91	13431	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4437			Potential.|Glu-rich (acidic).		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.13311T>A	CCDS55691.1																																																																																				0.378	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		10	5	0	0	0	0.006214	0	10	5		
HNRNPU	3192	broad.mit.edu	37	1	245018742	245018742	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:245018742C>G	ENST00000283179.9	-	12	2499	c.2336G>C	c.(2335-2337)aGa>aCa	p.R779T	HNRNPU-AS1_ENST00000489705.1_RNA|HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Missense_Mutation_p.R760T			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	779	Gly-rich.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			GTAGTTCCCTCTGTTGGGCAT	0.478																																					NSCLC(33;911 1010 3329 23631 49995)	uc001iaz.1		NaN																	0					0						c.(2335-2337)AGA>ACA		heterogeneous nuclear ribonucleoprotein U							213.0	213.0	213.0					1																	245018742		2203	4300	6503	SO:0001583	missense	3192				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	g.chr1:245018742C>G	X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.2336G>C	1.37:g.245018742C>G	ENSP00000283179:p.Arg779Thr					HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.R503T|HNRNPU_uc001iba.1_Missense_Mutation_p.R760T	p.R779T	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00868)		12	2554	-	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		779			Gly-rich.		O75507|Q8N174|Q96HY9|Q9BQ09	Missense_Mutation	SNP	ENST00000283179.9	37	c.2336G>C	CCDS41479.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314162	0.60414	.	.	ENSG00000153187	ENST00000444376;ENST00000283179;ENST00000427948	T;T	0.47869	0.83;0.83	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	L	0.29908	0.895	0.53005	D	0.999967	D;D;P	0.57899	0.981;0.967;0.909	D;P;P	0.66351	0.943;0.879;0.879	T	0.54951	-0.8216	10	0.39692	T	0.17	-15.3366	19.5641	0.95386	0.0:1.0:0.0:0.0	.	760;779;503	Q00839-2;Q00839;Q5RI19	.;HNRPU_HUMAN;.	T	760;779;704	ENSP00000393151:R760T;ENSP00000283179:R779T	ENSP00000283179:R779T	R	-	2	0	HNRNPU	243085365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.889000	0.69766	2.619000	0.88677	0.591000	0.81541	AGA		0.478	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3		NM_031844		99	163	0	0	0	0.00361	0	99	163		
NLRP3	114548	broad.mit.edu	37	1	247607346	247607346	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr1:247607346C>G	ENST00000336119.3	+	7	3488	c.2742C>G	c.(2740-2742)ctC>ctG	p.L914L	NLRP3_ENST00000391827.2_Silent_p.L857L|NLRP3_ENST00000391828.3_Silent_p.L914L|NLRP3_ENST00000366497.2_Silent_p.L857L|NLRP3_ENST00000348069.2_Silent_p.L800L|NLRP3_ENST00000366496.2_Silent_p.L857L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	914					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATCAGAATCTCACGCACCTTT	0.517																																						uc001icr.2		NaN																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2740-2742)CTC>CTG		NLR family, pyrin domain containing 3 isoform a							201.0	160.0	174.0					1																	247607346		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607346C>G	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2742C>G	1.37:g.247607346C>G						NLRP3_uc001ics.2_Silent_p.L857L|NLRP3_uc001icu.2_Silent_p.L914L|NLRP3_uc001icw.2_Silent_p.L857L|NLRP3_uc001icv.2_Silent_p.L800L|NLRP3_uc010pyw.1_Silent_p.L892L	p.L914L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	2880	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	914			LRR 7.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2742C>G	CCDS1632.1																																																																																				0.517	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895		34	31	0	0	0	0.003271	0	34	31		
MSRB2	22921	broad.mit.edu	37	10	23399191	23399191	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:23399191G>T	ENST00000376510.3	+	3	343	c.240G>T	c.(238-240)ctG>ctT	p.L80L		NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	80					actin filament polymerization (GO:0030041)|protein repair (GO:0030091)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)	actin binding (GO:0003779)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCTACCTGAATAACAAGG	0.428																																					Esophageal Squamous(89;1240 1363 4973 30188 42299)	uc001iro.2		NaN																	0					0						c.(238-240)CTG>CTT		methionine sulfoxide reductase B2 precursor	L-Methionine(DB00134)						100.0	95.0	97.0					10																	23399191		1917	4130	6047	SO:0001819	synonymous_variant	22921				protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:23399191G>T	AF122004	CCDS41495.1	10p12	2004-12-07	2004-12-06	2004-12-07	ENSG00000148450	ENSG00000148450			17061	protein-coding gene	gene with protein product		613782	"""methionine sulfoxide reductase B"""	MSRB		8749308, 10375640	Standard	NM_012228		Approved	PILB, CGI-131, CBS1, CBS-1	uc001iro.3	Q9Y3D2	OTTHUMG00000017812	ENST00000376510.3:c.240G>T	10.37:g.23399191G>T							p.L80L	NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN			3	351	+			80					Q17R44|Q4G1C7|Q9Y5W6	Silent	SNP	ENST00000376510.3	37	c.240G>T	CCDS41495.1																																																																																				0.428	MSRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047205.1		NM_012228		20	22	1	0	2.4624e-09	0.008871	2.8746e-09	20	22		
GAD2	2572	broad.mit.edu	37	10	26559631	26559631	+	Silent	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:26559631C>A	ENST00000376261.3	+	10	1541	c.1038C>A	c.(1036-1038)ccC>ccA	p.P346P	GAD2_ENST00000259271.3_Silent_p.P346P	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	346					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATTTGACCCCCTCTTAGCTG	0.488																																						uc001isp.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1036-1038)CCC>CCA		glutamate decarboxylase 2	L-Glutamic Acid(DB00142)						163.0	157.0	159.0					10																	26559631		2203	4300	6503	SO:0001819	synonymous_variant	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26559631C>A	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1038C>A	10.37:g.26559631C>A						GAD2_uc001isq.2_Silent_p.P346P	p.P346P	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN			10	1541	+			346					Q9UD87	Silent	SNP	ENST00000376261.3	37	c.1038C>A	CCDS7149.1																																																																																				0.488	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1		NM_000818		80	69	1	0	2.65773e-34	0.00361	3.20136e-34	80	69		
KIF5B	3799	broad.mit.edu	37	10	32311875	32311875	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:32311875C>T	ENST00000302418.4	-	16	2272	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	605					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TGCAACGTTTCACCATGGTTT	0.403			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3		NaN		Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	0				lung(4)|ovary(1)	5						c.(1813-1815)GTG>GTA		kinesin family member 5B							210.0	175.0	187.0					10																	32311875		2203	4299	6502	SO:0001819	synonymous_variant	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32311875C>T	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1815G>A	10.37:g.32311875C>T							p.V605V	NM_004521	NP_004512	P33176	KINH_HUMAN			16	2285	-		Prostate(175;0.0137)	605					A0AVB2|Q5VZ85	Silent	SNP	ENST00000302418.4	37	c.1815G>A	CCDS7171.1																																																																																				0.403	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1		NM_004521		22	31	0	0	0	0.001523	0	22	31		
RTKN2	219790	broad.mit.edu	37	10	63978015	63978015	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:63978015C>G	ENST00000373789.3	-	8	923	c.827G>C	c.(826-828)cGa>cCa	p.R276P	RTKN2_ENST00000315289.2_Missense_Mutation_p.R57P|RTKN2_ENST00000395265.1_Missense_Mutation_p.R276P	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	276					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGCAACTAGTCGGCAGCACAT	0.368																																						uc001jlw.2		NaN																	0					0						c.(826-828)CGA>CCA		rhotekin 2							67.0	66.0	66.0					10																	63978015		2203	4300	6503	SO:0001583	missense	219790				signal transduction	intracellular		g.chr10:63978015C>G	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.827G>C	10.37:g.63978015C>G	ENSP00000362894:p.Arg276Pro					RTKN2_uc009xpf.1_Missense_Mutation_p.R57P	p.R276P	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN			8	924	-	Prostate(12;0.0297)|all_hematologic(501;0.215)		276					Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Missense_Mutation	SNP	ENST00000373789.3	37	c.827G>C	CCDS7263.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111913	0.77210	.	.	ENSG00000182010	ENST00000315289;ENST00000395265;ENST00000373789	T;T;T	0.61040	0.14;0.79;0.83	5.59	5.59	0.84812	.	0.185294	0.49305	D	0.000151	T	0.78291	0.4260	M	0.78637	2.42	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.87578	0.985;0.998	T	0.79850	-0.1629	10	0.87932	D	0	-16.0034	19.5601	0.95368	0.0:1.0:0.0:0.0	.	57;276	Q5SVY4;Q8IZC4	.;RTKN2_HUMAN	P	57;276;276	ENSP00000325379:R57P;ENSP00000378682:R276P;ENSP00000362894:R276P	ENSP00000325379:R57P	R	-	2	0	RTKN2	63648021	0.999000	0.42202	0.958000	0.39756	0.896000	0.52359	4.130000	0.57964	2.793000	0.96121	0.655000	0.94253	CGA		0.368	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091618.1		NM_145307		41	50	0	0	0	0.002852	0	41	50		
UNC5B	219699	broad.mit.edu	37	10	73053303	73053303	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:73053303G>C	ENST00000335350.6	+	12	2330	c.1914G>C	c.(1912-1914)aaG>aaC	p.K638N	UNC5B_ENST00000373192.4_Missense_Mutation_p.K627N	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	638	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TTCAGCTCAAGACCCAGGCCC	0.637																																						uc001jro.2		NaN																	0				ovary(2)|lung(1)	3						c.(1912-1914)AAG>AAC		unc-5 homolog B precursor							72.0	72.0	72.0					10																	73053303		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73053303G>C	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1914G>C	10.37:g.73053303G>C	ENSP00000334329:p.Lys638Asn					UNC5B_uc001jrp.2_Missense_Mutation_p.K627N	p.K638N	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			12	2359	+			638			Cytoplasmic (Potential).|ZU5.		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1914G>C	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539817	0.65085	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.56275	0.47;0.47	4.9	2.92	0.33932	ZU5 (3);	0.119548	0.56097	D	0.000035	T	0.62829	0.2460	M	0.81341	2.54	0.53688	D	0.999978	D;D	0.64830	0.992;0.994	P;P	0.58721	0.757;0.844	T	0.61936	-0.6960	10	0.41790	T	0.15	-20.6891	5.117	0.14840	0.2282:0.1724:0.5995:0.0	.	627;638	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	N	638;627	ENSP00000334329:K638N;ENSP00000362288:K627N	ENSP00000334329:K638N	K	+	3	2	UNC5B	72723309	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.184000	0.50926	1.069000	0.40788	0.462000	0.41574	AAG		0.637	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1		NM_170744		32	48	0	0	0	0.003271	0	32	48		
CDHR1	92211	broad.mit.edu	37	10	85973981	85973981	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:85973981G>C	ENST00000372117.3	+	17	2287	c.2184G>C	c.(2182-2184)aaG>aaC	p.K728N	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.K432N	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	728					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						GGCGCAACAAGAAGTCTAACA	0.642																																						uc001kcv.2		NaN																	0				ovary(1)	1						c.(2182-2184)AAG>AAC		protocadherin 21 precursor							59.0	65.0	63.0					10																	85973981		2203	4299	6502	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85973981G>C	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2184G>C	10.37:g.85973981G>C	ENSP00000361189:p.Lys728Asn					CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.K432N|CDHR1_uc001kcx.2_Missense_Mutation_p.K42N	p.K728N	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			17	2184	+			728			Cytoplasmic (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.2184G>C	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481875	0.44147	.	.	ENSG00000148600	ENST00000372117;ENST00000440770	T;T	0.60171	0.26;0.21	5.53	4.63	0.57726	.	0.187495	0.56097	D	0.000027	T	0.47192	0.1432	L	0.56769	1.78	0.41259	D	0.986763	B;P	0.35923	0.417;0.528	B;B	0.32624	0.075;0.149	T	0.40059	-0.9583	10	0.21014	T	0.42	-11.0679	7.8531	0.29466	0.2433:0.0:0.7567:0.0	.	432;728	E7EN47;Q96JP9	.;CDHR1_HUMAN	N	728;432	ENSP00000361189:K728N;ENSP00000415980:K432N	ENSP00000361189:K728N	K	+	3	2	CDHR1	85963961	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.203000	0.42752	1.332000	0.45431	0.561000	0.74099	AAG		0.642	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1		NM_033100		42	35	0	0	0	0.00361	0	42	35		
NOC3L	64318	broad.mit.edu	37	10	96106204	96106204	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:96106204G>C	ENST00000371361.3	-	11	1467	c.1367C>G	c.(1366-1368)tCt>tGt	p.S456C	NOC3L_ENST00000463649.1_5'Flank|NOC3L_ENST00000371350.1_Missense_Mutation_p.S456C|NOC3L_ENST00000543788.1_Missense_Mutation_p.S194C	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	456					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCTTGATAGAGATTTTCTCTT	0.269																																						uc001kjq.1		NaN																	0				ovary(1)	1						c.(1366-1368)TCT>TGT		nucleolar complex associated 3 homolog							63.0	62.0	63.0					10																	96106204		2186	4267	6453	SO:0001583	missense	64318					nuclear speck|nucleolus	binding	g.chr10:96106204G>C	AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1367C>G	10.37:g.96106204G>C	ENSP00000360412:p.Ser456Cys					NOC3L_uc009xuk.1_Missense_Mutation_p.S241C	p.S456C	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN			11	1455	-		Colorectal(252;0.0897)	456			Potential.		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	ENST00000371361.3	37	c.1367C>G	CCDS7433.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180362	0.57800	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.15139	2.45;2.67;2.67	5.83	1.55	0.23275	.	0.384003	0.28677	N	0.014502	T	0.24122	0.0584	L	0.42245	1.32	0.25934	N	0.982951	B	0.28026	0.198	P	0.46585	0.521	T	0.34378	-0.9831	10	0.38643	T	0.18	-4.4846	10.6464	0.45623	0.0:0.104:0.2768:0.6192	.	456	Q8WTT2	NOC3L_HUMAN	C	194;456;456	ENSP00000437838:S194C;ENSP00000360412:S456C;ENSP00000360401:S456C	ENSP00000360401:S456C	S	-	2	0	NOC3L	96096194	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	2.472000	0.45136	0.321000	0.23259	-0.182000	0.12963	TCT		0.269	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049466.1		NM_022451		18	41	0	0	0	0.007413	0	18	41		
CRTAC1	55118	broad.mit.edu	37	10	99664461	99664461	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:99664461G>C	ENST00000370597.3	-	7	1316	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	CRTAC1_ENST00000298819.4_Missense_Mutation_p.L321V|CRTAC1_ENST00000370591.2_Missense_Mutation_p.L321V	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	321						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATTTGCAGATAGAGGCGG	0.592																																						uc001kou.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(961-963)CTG>GTG		cartilage acidic protein 1 precursor							101.0	102.0	102.0					10																	99664461		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99664461G>C	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.961C>G	10.37:g.99664461G>C	ENSP00000359629:p.Leu321Val					CRTAC1_uc001kov.2_Missense_Mutation_p.L310V|CRTAC1_uc001kot.1_Missense_Mutation_p.L111V	p.L321V	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	7	1317	-		Colorectal(252;0.24)	321			FG-GAP 3; atypical.		B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.961C>G	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	G	8.880	0.951476	0.18431	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	4.96	4.96	0.65561	.	0.152140	0.47093	D	0.000245	T	0.20700	0.0498	L	0.42487	1.325	0.45150	D	0.998165	B;B;B	0.31153	0.08;0.31;0.098	B;B;B	0.26310	0.027;0.049;0.068	T	0.03597	-1.1021	10	0.30854	T	0.27	-12.6852	11.6805	0.51455	0.081:0.0:0.919:0.0	.	321;321;217	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	V	217;321;321;313;321	ENSP00000408445:L217V;ENSP00000359629:L321V;ENSP00000298819:L321V;ENSP00000310810:L313V;ENSP00000359623:L321V	ENSP00000298819:L321V	L	-	1	2	CRTAC1	99654451	1.000000	0.71417	0.975000	0.42487	0.616000	0.37450	2.466000	0.45084	2.303000	0.77524	0.561000	0.74099	CTG		0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1		NM_018058		52	78	0	0	0	0.00361	0	52	78		
PPRC1	23082	broad.mit.edu	37	10	103897653	103897653	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:103897653C>T	ENST00000278070.2	+	2	239	c.200C>T	c.(199-201)tCt>tTt	p.S67F	PPRC1_ENST00000413464.2_Missense_Mutation_p.S67F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	67					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTCAGTCTCTCTCGGCTGGGC	0.562																																						uc001kum.2		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(199-201)TCT>TTT		peroxisome proliferator-activated receptor							91.0	78.0	82.0					10																	103897653		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103897653C>T	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.200C>T	10.37:g.103897653C>T	ENSP00000278070:p.Ser67Phe					PPRC1_uc001kun.2_5'UTR|PPRC1_uc010qqj.1_Missense_Mutation_p.S67F|PPRC1_uc009xxa.2_5'Flank	p.S67F	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	2	239	+		Colorectal(252;0.122)	67					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.200C>T	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845676	0.51164	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59224	0.28;0.28	5.23	5.23	0.72850	.	0.530418	0.17558	N	0.169905	T	0.53433	0.1796	N	0.19112	0.55	0.24982	N	0.991594	P;P	0.50943	0.94;0.94	P;P	0.50440	0.641;0.641	T	0.53143	-0.8480	10	0.87932	D	0	.	14.6679	0.68921	0.0:1.0:0.0:0.0	.	67;67	E7EVG6;Q5VV67	.;PPRC1_HUMAN	F	67	ENSP00000278070:S67F;ENSP00000399743:S67F	ENSP00000278070:S67F	S	+	2	0	PPRC1	103887643	0.997000	0.39634	0.998000	0.56505	0.964000	0.63967	2.236000	0.43052	2.615000	0.88500	0.561000	0.74099	TCT		0.562	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1		NM_015062		21	26	0	0	0	0.001523	0	21	26		
PSD	5662	broad.mit.edu	37	10	104173719	104173719	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr10:104173719C>T	ENST00000020673.5	-	5	1886	c.1360G>A	c.(1360-1362)Gac>Aac	p.D454N	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.D454N	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	454	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTGGTGGGTCGGGCCGGGGT	0.662																																						uc001kvg.1		NaN																	0				breast(2)|urinary_tract(1)	3						c.(1360-1362)GAC>AAC		pleckstrin and Sec7 domain containing							35.0	44.0	41.0					10																	104173719		2203	4299	6502	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104173719C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1360G>A	10.37:g.104173719C>T	ENSP00000020673:p.Asp454Asn					PSD_uc001kvh.1_Missense_Mutation_p.D75N|PSD_uc009xxd.1_Missense_Mutation_p.D454N	p.D454N	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	5	1887	-			454			Pro-rich.		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.1360G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	14.08	2.430009	0.43122	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.44482	0.92;0.92	4.97	4.97	0.65823	.	0.889006	0.09781	N	0.756635	T	0.41627	0.1167	N	0.19112	0.55	0.38085	D	0.936791	D	0.69078	0.997	P	0.51453	0.67	T	0.31888	-0.9927	10	0.14656	T	0.56	.	18.2808	0.90097	0.0:1.0:0.0:0.0	.	454	A5PKW4	PSD1_HUMAN	N	454;357;454	ENSP00000020673:D454N;ENSP00000384830:D454N	ENSP00000020673:D454N	D	-	1	0	PSD	104163709	1.000000	0.71417	0.974000	0.42286	0.084000	0.17831	1.570000	0.36439	2.327000	0.79052	0.555000	0.69702	GAC		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2				47	32	0	0	0	0.00361	0	47	32		
SIGIRR	59307	broad.mit.edu	37	11	407866	407866	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:407866G>C	ENST00000431843.2	-	5	738	c.432C>G	c.(430-432)ctC>ctG	p.L144L	SIGIRR_ENST00000531205.1_Silent_p.L144L|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Silent_p.L144L|SIGIRR_ENST00000332725.3_Silent_p.L144L|SIGIRR_ENST00000397632.3_Silent_p.L144L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	144					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCACGTTGAGACGGCACT	0.687																																						uc001lpd.2		NaN																	0					0						c.(430-432)CTC>CTG		single Ig IL-1R-related molecule							61.0	65.0	64.0					11																	407866		2202	4296	6498	SO:0001819	synonymous_variant	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:407866G>C		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.432C>G	11.37:g.407866G>C						SIGIRR_uc001lpf.2_Silent_p.L144L|SIGIRR_uc001lpe.1_Silent_p.L144L|SIGIRR_uc001lpg.2_Silent_p.L144L	p.L144L	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	762	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	144			Cytoplasmic (Potential).		Q3KQY2|Q6UXI3|Q9H733	Silent	SNP	ENST00000431843.2	37	c.432C>G	CCDS31325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	38|38	6.739485|6.739485	0.97801|0.97801	.|.	.|.	ENSG00000185187|ENSG00000185187	ENST00000530494|ENST00000528209	.|.	.|.	.|.	3.68|3.68	-2.73|-2.73	0.05950|0.05950	.|.	.|.	.|.	.|.	.|.	T|.	0.69967|.	0.3170|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73081|.	-0.4095|.	5|.	0.87932|0.87932	D|D	0|0	.|.	13.4368|13.4368	0.61088|0.61088	0.0:0.6989:0.185:0.1162|0.0:0.6989:0.185:0.1162	.|.	.|.	.|.	.|.	E|X	100|52	.|.	ENSP00000434030:Q100E|ENSP00000435135:S52X	Q|S	-|-	1|2	0|0	SIGIRR|SIGIRR	397866|397866	0.038000|0.038000	0.19896|0.19896	0.258000|0.258000	0.24420|0.24420	0.906000|0.906000	0.53458|0.53458	0.438000|0.438000	0.21559|0.21559	-0.672000|-0.672000	0.05266|0.05266	0.305000|0.305000	0.20034|0.20034	CAA|TCA		0.687	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3		NM_021805		55	3	0	0	0	0.00361	0	55	3		
OR8J3	81168	broad.mit.edu	37	11	55905037	55905037	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:55905037G>C	ENST00000301529.1	-	1	157	c.158C>G	c.(157-159)tCt>tGt	p.S53C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TTGAAGTCGAGAGTCAACACT	0.473																																						uc010riz.1		NaN																	0				skin(2)	2						c.(157-159)TCT>TGT		olfactory receptor, family 8, subfamily J,							148.0	142.0	144.0					11																	55905037		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55905037G>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.158C>G	11.37:g.55905037G>C	ENSP00000301529:p.Ser53Cys						p.S53C	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	158	-	Esophageal squamous(21;0.00693)		53			Cytoplasmic (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.158C>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	G	9.204	1.029235	0.19512	.	.	ENSG00000167822	ENST00000301529	T	0.01106	5.33	3.26	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.101939	0.44483	D	0.000453	T	0.04861	0.0131	M	0.87038	2.855	0.09310	N	1	D	0.57571	0.98	P	0.59171	0.853	T	0.06391	-1.0829	10	0.72032	D	0.01	.	6.8191	0.23847	0.0:0.1584:0.5385:0.3031	.	53	Q8NGG0	OR8J3_HUMAN	C	53	ENSP00000301529:S53C	ENSP00000301529:S53C	S	-	2	0	OR8J3	55661613	0.000000	0.05858	0.015000	0.15790	0.310000	0.27922	0.047000	0.14056	1.548000	0.49413	0.289000	0.19496	TCT		0.473	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1		NM_001004064		94	96	0	0	0	0.00361	0	94	96		
SLC36A4	120103	broad.mit.edu	37	11	92916047	92916047	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:92916047C>G	ENST00000326402.4	-	4	414	c.284G>C	c.(283-285)aGc>aCc	p.S95T	SLC36A4_ENST00000529184.1_5'UTR	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	95					L-alanine transport (GO:0015808)|proline transport (GO:0015824)|tryptophan transport (GO:0015827)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACACAAGGCTGATTGGTCC	0.328																																						uc001pdn.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(283-285)AGC>ACC		solute carrier family 36 (proton/amino acid							85.0	87.0	86.0					11																	92916047		2201	4297	6498	SO:0001583	missense	120103				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity	g.chr11:92916047C>G	AY162216	CCDS8291.1, CCDS66202.1	11q21	2013-05-22			ENSG00000180773	ENSG00000180773		"""Solute carriers"""	19660	protein-coding gene	gene with protein product		613760					Standard	XM_005273758		Approved	PAT4, FLJ38932	uc001pdn.3	Q6YBV0	OTTHUMG00000167368	ENST00000326402.4:c.284G>C	11.37:g.92916047C>G	ENSP00000317382:p.Ser95Thr					SLC36A4_uc001pdm.2_5'UTR	p.S95T	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN			4	381	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	95			Helical; (Potential).		Q86X30|Q8IVM5|Q8N8S6	Missense_Mutation	SNP	ENST00000326402.4	37	c.284G>C	CCDS8291.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129682	0.77549	.	.	ENSG00000180773	ENST00000326402	T	0.02121	4.44	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	L	0.56124	1.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00465	-1.1723	10	0.62326	D	0.03	-9.8027	19.2929	0.94110	0.0:1.0:0.0:0.0	.	95	Q6YBV0	S36A4_HUMAN	T	95	ENSP00000317382:S95T	ENSP00000317382:S95T	S	-	2	0	SLC36A4	92555695	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.833000	0.69349	2.649000	0.89929	0.650000	0.86243	AGC		0.328	SLC36A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394329.2				51	57	0	0	0	0.00361	0	51	57		
EI24	9538	broad.mit.edu	37	11	125448904	125448904	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:125448904C>T	ENST00000278903.6	+	7	743	c.501C>T	c.(499-501)gtC>gtT	p.V167V	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000343678.4_Silent_p.V167V	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	167					apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCCCTAGTGTCAGCAAAATAA	0.443																																						uc001qca.2		NaN																	0				ovary(1)	1						c.(499-501)GTC>GTT		etoposide induced 2.4 isoform 1							72.0	61.0	65.0					11																	125448904		1879	4105	5984	SO:0001819	synonymous_variant	9538				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane		g.chr11:125448904C>T	AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000278903.6:c.501C>T	11.37:g.125448904C>T						EI24_uc001qcb.2_Silent_p.V167V|EI24_uc010sbd.1_RNA|EI24_uc009zbl.2_Silent_p.V167V|EI24_uc001qcc.2_RNA|EI24_uc010sbe.1_Silent_p.V153V|EI24_uc010sbf.1_RNA	p.V167V	NM_004879	NP_004870	O14681	EI24_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)	7	743	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	167					A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	ENST00000278903.6	37	c.501C>T																																																																																					0.443	EI24-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_004879		5	1	0	0	0	0.00308	0	5	1		
KCNJ5	3762	broad.mit.edu	37	11	128782060	128782060	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr11:128782060G>C	ENST00000338350.4	+	3	1244	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	KCNJ5_ENST00000533599.1_Missense_Mutation_p.E298Q|KCNJ5_ENST00000529694.1_Missense_Mutation_p.E298Q			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	298					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	GCATCAGGAAGAGTTTGAAGT	0.527																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)	uc001qet.2		NaN																	0				skin(1)	1						c.(892-894)GAG>CAG		potassium inwardly-rectifying channel J5	Glibenclamide(DB01016)						102.0	96.0	98.0					11																	128782060		2201	4297	6498	SO:0001583	missense	3762				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr11:128782060G>C	D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.892G>C	11.37:g.128782060G>C	ENSP00000339960:p.Glu298Gln					KCNJ5_uc009zck.2_Missense_Mutation_p.E298Q|KCNJ5_uc001qew.2_Missense_Mutation_p.E298Q	p.E298Q	NM_000890	NP_000881	P48544	IRK5_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	2	1206	+	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	298			Cytoplasmic (By similarity).		B2R744|Q6DK13|Q6DK14|Q92807	Missense_Mutation	SNP	ENST00000338350.4	37	c.892G>C	CCDS8479.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.900973	0.52227	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	D;D;D	0.94138	-3.36;-3.36;-3.36	5.46	5.46	0.80206	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.92925	0.7749	N	0.17312	0.475	0.45899	D	0.998741	D	0.69078	0.997	D	0.64776	0.929	D	0.91415	0.5154	10	0.22706	T	0.39	.	19.3054	0.94161	0.0:0.0:1.0:0.0	.	298	P48544	IRK5_HUMAN	Q	298	ENSP00000433295:E298Q;ENSP00000339960:E298Q;ENSP00000434266:E298Q	ENSP00000339960:E298Q	E	+	1	0	KCNJ5	128287270	1.000000	0.71417	0.970000	0.41538	0.929000	0.56500	7.876000	0.87215	2.556000	0.86216	0.561000	0.74099	GAG		0.527	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386239.1		NM_000890		49	4	0	0	0	0.00361	0	49	4		
STYK1	55359	broad.mit.edu	37	12	10772796	10772796	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:10772796C>T	ENST00000075503.3	-	11	1736	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	406						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CCGGCCACAGCTGCATACAGT	0.483										HNSCC(73;0.22)																												uc001qys.2		NaN																	0				central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(1216-1218)GCT>ACT		serine/threonine/tyrosine kinase 1							176.0	167.0	170.0					12																	10772796		2203	4300	6503	SO:0001583	missense	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10772796C>T	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.1216G>A	12.37:g.10772796C>T	ENSP00000075503:p.Ala406Thr	HNSCC(73;0.22)					p.A406T	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			11	1737	-			406					B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Missense_Mutation	SNP	ENST00000075503.3	37	c.1216G>A	CCDS8629.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621790	0.28889	.	.	ENSG00000060140	ENST00000075503	T	0.78126	-1.15	4.96	3.01	0.34805	Protein kinase-like domain (1);	0.690156	0.13260	N	0.401330	T	0.69242	0.3089	L	0.44542	1.39	0.21802	N	0.99954	B	0.27625	0.183	B	0.22386	0.039	T	0.58940	-0.7547	10	0.40728	T	0.16	-0.5477	11.758	0.51886	0.3178:0.6822:0.0:0.0	.	406	Q6J9G0	STYK1_HUMAN	T	406	ENSP00000075503:A406T	ENSP00000075503:A406T	A	-	1	0	STYK1	10664063	0.004000	0.15560	0.992000	0.48379	0.992000	0.81027	0.102000	0.15272	1.041000	0.40125	0.563000	0.77884	GCT		0.483	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1		NM_018423		123	130	0	0	0	0.00361	0	123	130		
PDE3A	5139	broad.mit.edu	37	12	20774241	20774241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:20774241G>A	ENST00000359062.3	+	5	1476	c.1436G>A	c.(1435-1437)tGg>tAg	p.W479*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	479					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTGATTCTTGGAATAATCCA	0.378																																						uc001reh.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(1435-1437)TGG>TAG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						96.0	87.0	90.0					12																	20774241		2203	4299	6502	SO:0001587	stop_gained	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20774241G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1436G>A	12.37:g.20774241G>A	ENSP00000351957:p.Trp479*						p.W479*	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			5	1458	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	479					O60865|Q13348|Q17RD1	Nonsense_Mutation	SNP	ENST00000359062.3	37	c.1436G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	39	7.493774	0.98319	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.54	5.54	0.83059	.	6.210940	0.00166	N	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	17.7153	0.88335	0.0:0.0:1.0:0.0	.	.	.	.	X	479	.	ENSP00000351957:W479X	W	+	2	0	PDE3A	20665508	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.097000	0.89539	2.619000	0.88677	0.585000	0.79938	TGG		0.378	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2				13	19	0	0	0	0.001368	0	13	19		
SOX5	6660	broad.mit.edu	37	12	23893927	23893927	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:23893927C>G	ENST00000451604.2	-	5	716	c.615G>C	c.(613-615)atG>atC	p.M205I	SOX5_ENST00000381381.2_Missense_Mutation_p.M192I|SOX5_ENST00000546136.1_Missense_Mutation_p.M192I|SOX5_ENST00000309359.1_Missense_Mutation_p.M192I|SOX5_ENST00000545921.1_Missense_Mutation_p.M195I|SOX5_ENST00000537393.1_Missense_Mutation_p.M170I|SOX5_ENST00000541847.1_Missense_Mutation_p.M195I|SOX5_ENST00000541536.1_Missense_Mutation_p.M192I			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	205					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCTGGTTGATCATACCCATGA	0.438																																						uc001rfw.2		NaN																	0				ovary(5)|lung(1)	6						c.(613-615)ATG>ATC		SRY (sex determining region Y)-box 5 isoform a							78.0	71.0	73.0					12																	23893927		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23893927C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.615G>C	12.37:g.23893927C>G	ENSP00000398273:p.Met205Ile					SOX5_uc001rfx.2_Missense_Mutation_p.M192I|SOX5_uc001rfy.2_Missense_Mutation_p.M192I|SOX5_uc010siv.1_Missense_Mutation_p.M192I|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.M157I	p.M205I	NM_006940	NP_008871	P35711	SOX5_HUMAN			5	717	-			205			Potential.		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.615G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061891	0.93846	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847	D;D;D;D;D;D;D	0.98512	-4.95;-4.95;-4.85;-4.95;-4.97;-4.85;-4.95	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.98592	0.9529	M	0.84683	2.71	0.80722	D	1	P;P;P	0.51933	0.86;0.656;0.949	P;P;P	0.51170	0.661;0.584;0.54	D	0.99346	1.0913	10	0.62326	D	0.03	.	20.0503	0.97624	0.0:1.0:0.0:0.0	.	170;192;205	F5H0I3;P35711-4;P35711	.;.;SOX5_HUMAN	I	192;192;192;205;157;170;192;195;195	ENSP00000437487:M192I;ENSP00000308927:M192I;ENSP00000370788:M192I;ENSP00000398273:M205I;ENSP00000439832:M170I;ENSP00000441973:M192I;ENSP00000443520:M195I	ENSP00000308927:M192I	M	-	3	0	SOX5	23785194	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.353000	0.79414	2.736000	0.93811	0.591000	0.81541	ATG		0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2		NM_006940		31	36	0	0	0	0.001786	0	31	36		
TENC1	23371	broad.mit.edu	37	12	53454002	53454002	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:53454002G>A	ENST00000314250.6	+	18	2867	c.2577G>A	c.(2575-2577)ttG>ttA	p.L859L	TENC1_ENST00000546602.1_Intron|TENC1_ENST00000451358.1_Silent_p.L849L|TENC1_ENST00000549700.1_Silent_p.L794L|TENC1_ENST00000552570.1_Silent_p.L859L|TENC1_ENST00000379902.3_Silent_p.L735L|TENC1_ENST00000314276.3_Silent_p.L869L	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	859	Pro-rich.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGTACCCATTGCCTGGGCACC	0.637																																						uc001sbp.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(2575-2577)TTG>TTA		tensin like C1 domain containing phosphatase							17.0	18.0	18.0					12																	53454002		2203	4300	6503	SO:0001819	synonymous_variant	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53454002G>A	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.2577G>A	12.37:g.53454002G>A						TENC1_uc001sbl.2_Silent_p.L735L|TENC1_uc001sbn.2_Silent_p.L869L|TENC1_uc001sbq.2_Intron|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Silent_p.L354L|TENC1_uc001sbs.2_5'Flank	p.L859L	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN			18	2712	+			859			Pro-rich.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Silent	SNP	ENST00000314250.6	37	c.2577G>A	CCDS8843.1																																																																																				0.637	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1		NM_170754		7	7	0	0	0	0.004482	0	7	7		
ESYT1	23344	broad.mit.edu	37	12	56536837	56536837	+	Silent	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:56536837C>G	ENST00000394048.5	+	28	3288	c.3024C>G	c.(3022-3024)ccC>ccG	p.P1008P	ESYT1_ENST00000267113.4_Silent_p.P1018P|ESYT1_ENST00000541590.1_Silent_p.P1018P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1008	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTCCTGATCCCTATGTGTCAC	0.522																																						uc001sjq.2		NaN																	0				ovary(4)|skin(1)	5						c.(3022-3024)CCC>CCG		extended synaptotagmin-like protein 1							178.0	159.0	166.0					12																	56536837		2203	4300	6503	SO:0001819	synonymous_variant	23344					integral to membrane		g.chr12:56536837C>G	AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.3024C>G	12.37:g.56536837C>G						ESYT1_uc001sjr.2_Silent_p.P1018P	p.P1008P	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN			28	3074	+			1008			C2 5.		A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	ENST00000394048.5	37	c.3024C>G	CCDS8904.1																																																																																				0.522	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1		NM_015292		75	85	0	0	0	0.00361	0	75	85		
HCFC2	29915	broad.mit.edu	37	12	104476336	104476336	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:104476336C>T	ENST00000229330.4	+	6	930	c.826C>T	c.(826-828)Cat>Tat	p.H276Y		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	276					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GACTTCACCTCATGATTGTGA	0.333																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(826-828)CAT>TAT		host cell factor C2							115.0	114.0	114.0					12																	104476336		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476336C>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.826C>T	12.37:g.104476336C>T	ENSP00000229330:p.His276Tyr					HCFC2_uc009zul.2_RNA	p.H276Y	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			6	929	+			276			Kelch 4.		B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.826C>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456911	0.63401	.	.	ENSG00000111727	ENST00000229330	T	0.01854	4.6	5.58	5.58	0.84498	Kelch-type beta propeller (1);	0.461817	0.25227	N	0.032187	T	0.04952	0.0133	M	0.67397	2.05	0.36340	D	0.859438	P	0.45348	0.856	B	0.42555	0.391	T	0.36792	-0.9733	10	0.45353	T	0.12	-12.1002	14.4162	0.67153	0.1475:0.8525:0.0:0.0	.	276	Q9Y5Z7	HCFC2_HUMAN	Y	276	ENSP00000229330:H276Y	ENSP00000229330:H276Y	H	+	1	0	HCFC2	103000466	0.983000	0.35010	1.000000	0.80357	0.975000	0.68041	1.050000	0.30404	2.614000	0.88457	0.650000	0.86243	CAT		0.333	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1		NM_013320		21	38	0	0	0	0.002299	0	21	38		
RNF10	9921	broad.mit.edu	37	12	121001667	121001667	+	Missense_Mutation	SNP	G	G	T	rs192832337		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:121001667G>T	ENST00000325954.4	+	10	2047	c.1586G>T	c.(1585-1587)cGg>cTg	p.R529L	RNF10_ENST00000413266.2_Missense_Mutation_p.R534L	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	529					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCCTCGTGCGGGAGTACGGC	0.572																																						uc001typ.3		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1585-1587)CGG>CTG		ring finger protein 10							159.0	144.0	149.0					12																	121001667		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:121001667G>T	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.1586G>T	12.37:g.121001667G>T	ENSP00000322242:p.Arg529Leu					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.R440L	p.R529L	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			10	2069	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		529					Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.1586G>T	CCDS9201.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924693	0.52653	.	.	ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266;ENST00000540046	T;T;T	0.21191	2.02;2.02;2.02	5.7	4.8	0.61643	.	0.055270	0.64402	D	0.000001	T	0.32615	0.0835	L	0.47716	1.5	0.51767	D	0.999938	D;P	0.69078	0.997;0.928	D;P	0.63488	0.915;0.496	T	0.00731	-1.1590	10	0.33940	T	0.23	.	9.7395	0.40409	0.2045:0.0:0.7955:0.0	.	534;529	Q8N5U6-2;Q8N5U6	.;RNF10_HUMAN	L	529;529;534;73	ENSP00000322242:R529L;ENSP00000415682:R534L;ENSP00000439859:R73L	ENSP00000322242:R529L	R	+	2	0	RNF10	119486050	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	4.343000	0.59348	2.687000	0.91594	0.557000	0.71058	CGG		0.572	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4				78	111	1	0	5.41795e-27	0.00361	6.49664e-27	78	111		
TMEM132D	121256	broad.mit.edu	37	12	130185145	130185145	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:130185145A>T	ENST00000422113.2	-	2	504	c.178T>A	c.(178-180)Ttc>Atc	p.F60I	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	60					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTCAGGAAGAAGGAGACGTCC	0.552																																						uc009zyl.1		NaN																	0				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(178-180)TTC>ATC		transmembrane protein 132D precursor							87.0	68.0	74.0					12																	130185145		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:130185145A>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.178T>A	12.37:g.130185145A>T	ENSP00000408581:p.Phe60Ile						p.F60I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	506	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	60			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.178T>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	A	33	5.207085	0.95033	.	.	ENSG00000151952	ENST00000422113	T	0.17213	2.29	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000006	T	0.47673	0.1458	M	0.87547	2.89	0.48341	D	0.999638	D	0.89917	1.0	D	0.76575	0.988	T	0.55147	-0.8186	9	.	.	.	-42.0984	15.3082	0.74011	1.0:0.0:0.0:0.0	.	60	Q14C87	T132D_HUMAN	I	60	ENSP00000408581:F60I	.	F	-	1	0	TMEM132D	128751098	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.108000	0.94275	2.001000	0.58596	0.454000	0.30748	TTC		0.552	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1		NM_133448		41	40	0	0	0	0.006999	0	41	40		
STOML3	161003	broad.mit.edu	37	13	39544479	39544479	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:39544479T>A	ENST00000379631.4	-	5	703	c.359A>T	c.(358-360)tAt>tTt	p.Y120F	STOML3_ENST00000423210.1_Missense_Mutation_p.Y111F	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	120					signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		GATTCTGTAATAGACAACTCC	0.433																																						uc001uwx.2		NaN																	0				ovary(1)	1						c.(358-360)TAT>TTT		stomatin-like 3 isoform 1							157.0	152.0	154.0					13																	39544479		2203	4300	6503	SO:0001583	missense	161003					integral to membrane|plasma membrane		g.chr13:39544479T>A	BC025760	CCDS9367.1, CCDS45040.1	13q13.2	2004-03-05			ENSG00000133115	ENSG00000133115			19420	protein-coding gene	gene with protein product		608327				12122055	Standard	NM_145286		Approved	SRO, Epb7.2l	uc001uwx.3	Q8TAV4	OTTHUMG00000016763	ENST00000379631.4:c.359A>T	13.37:g.39544479T>A	ENSP00000368952:p.Tyr120Phe					STOML3_uc010tez.1_Missense_Mutation_p.Y111F	p.Y120F	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)	5	497	-		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)	120			Cytoplasmic (Potential).		B4E285|Q5JS35	Missense_Mutation	SNP	ENST00000379631.4	37	c.359A>T	CCDS9367.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420083	0.83559	.	.	ENSG00000133115	ENST00000379631;ENST00000423210	D;D	0.99571	-6.19;-6.19	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	L	0.41710	1.295	0.80722	D	1	P;P	0.50156	0.872;0.932	P;P	0.55965	0.666;0.788	D	0.99357	1.0916	10	0.52906	T	0.07	-5.5729	14.8782	0.70510	0.0:0.0:0.0:1.0	.	111;120	B4E285;Q8TAV4	.;STML3_HUMAN	F	120;111	ENSP00000368952:Y120F;ENSP00000401989:Y111F	ENSP00000368952:Y120F	Y	-	2	0	STOML3	38442479	1.000000	0.71417	0.989000	0.46669	0.694000	0.40290	4.907000	0.63300	2.188000	0.69820	0.460000	0.39030	TAT		0.433	STOML3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044604.2				69	86	0	0	0	0.00361	0	69	86		
THSD1	55901	broad.mit.edu	37	13	52952521	52952521	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:52952521G>A	ENST00000258613.4	-	5	1762	c.1584C>T	c.(1582-1584)ttC>ttT	p.F528F	THSD1_ENST00000544466.1_Silent_p.F149F|THSD1_ENST00000349258.4_Silent_p.F475F	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	528					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GGCGGTAGCTGAACAGAGGTG	0.552																																						uc001vgo.2		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(1582-1584)TTC>TTT		thrombospondin type I domain-containing 1							137.0	143.0	141.0					13																	52952521		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52952521G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1584C>T	13.37:g.52952521G>A						THSD1_uc001vgp.2_Silent_p.F475F|THSD1_uc010tgz.1_Silent_p.F149F|THSD1_uc010aea.2_5'UTR	p.F528F	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	5	2129	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	528			Cytoplasmic (Potential).		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1584C>T	CCDS9432.1																																																																																				0.552	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3				5	256	0	0	0	0.001168	0	5	256		
RBM26	64062	broad.mit.edu	37	13	79916956	79916956	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr13:79916956G>C	ENST00000438737.2	-	17	2710	c.2270C>G	c.(2269-2271)tCa>tGa	p.S757*	RBM26_ENST00000267229.7_Nonsense_Mutation_p.S730*|RBM26_ENST00000438724.1_Nonsense_Mutation_p.S733*			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	757					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		CTCCAGTTTTGAAATTAACAT	0.244																																						uc001vkz.2		NaN																	0				ovary(1)	1						c.(2275-2277)TCA>TGA		RNA binding motif protein 26							48.0	50.0	49.0					13																	79916956		2201	4293	6494	SO:0001587	stop_gained	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79916956G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2270C>G	13.37:g.79916956G>C	ENSP00000387531:p.Ser757*					RBM26_uc001vky.2_Nonsense_Mutation_p.S730*|RBM26_uc001vla.2_Nonsense_Mutation_p.S733*|RBM26_uc010tia.1_Nonsense_Mutation_p.S114*|RBM26_uc001vkx.2_Nonsense_Mutation_p.S469*	p.S759*	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	17	2290	-		Acute lymphoblastic leukemia(28;0.0279)	757			Potential.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Nonsense_Mutation	SNP	ENST00000438737.2	37	c.2276C>G		.	.	.	.	.	.	.	.	.	.	G	43	10.403783	0.99399	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	.	.	.	5.26	4.41	0.53225	.	0.212918	0.41712	D	0.000822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.8691	13.9059	0.63836	0.0738:0.0:0.9262:0.0	.	.	.	.	X	730;758;757;733	.	.	S	-	2	0	RBM26	78814957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.362000	0.79507	1.340000	0.45581	0.467000	0.42956	TCA		0.244	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118		19	42	0	0	0	0.00278	0	19	42		
PRMT5	10419	broad.mit.edu	37	14	23398498	23398498	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:23398498C>T	ENST00000324366.8	-	1	296	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000538452.1_5'UTR|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000397440.4_5'UTR|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000397441.2_5'UTR|PRMT5_ENST00000553897.1_Missense_Mutation_p.E25K|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	25	TIM barrel. {ECO:0000269|PubMed:23071334}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TCAGCTATTTCGGGGACGCAA	0.682																																						uc001whm.1		NaN																	0				ovary(1)	1						c.(73-75)GAA>AAA		protein arginine methyltransferase 5 isoform a							55.0	50.0	52.0					14																	23398498		2203	4300	6503	SO:0001583	missense	10419				cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	g.chr14:23398498C>T	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.73G>A	14.37:g.23398498C>T	ENSP00000319169:p.Glu25Lys					PRMT5_uc001whl.1_5'UTR|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_5'UTR|PRMT5_uc010tng.1_5'UTR|PRMT5_uc010tnh.1_Missense_Mutation_p.E25K|PRMT5_uc001whn.1_5'UTR	p.E25K	NM_006109	NP_006100	O14744	ANM5_HUMAN		GBM - Glioblastoma multiforme(265;0.0126)	1	164	-	all_cancers(95;2.76e-05)		25					A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	37	c.73G>A	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	C	34	5.362950	0.95877	.	.	ENSG00000100462	ENST00000324366;ENST00000553897;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000421938	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55641	0.1933	M	0.63843	1.955	0.80722	D	1	P;P	0.50528	0.936;0.734	B;B	0.38020	0.263;0.069	T	0.64002	-0.6509	9	0.59425	D	0.04	-11.8141	18.37	0.90403	0.0:1.0:0.0:0.0	.	25;25	G3V5W5;O14744	.;ANM5_HUMAN	K	25	.	ENSP00000319169:E25K	E	-	1	0	PRMT5	22468338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.389000	0.73199	2.873000	0.98535	0.563000	0.77884	GAA		0.682	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3				19	18	0	0	0	0.007413	0	19	18		
ACIN1	22985	broad.mit.edu	37	14	23533388	23533388	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:23533388C>G	ENST00000262710.1	-	12	3022	c.2695G>C	c.(2695-2697)Gag>Cag	p.E899Q	ACIN1_ENST00000555053.1_Missense_Mutation_p.E886Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.E172Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.E140Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E859Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E841Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.E141Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.E141Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	899					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTCTCATCCTCAGAGATGCGA	0.567																																						uc001wit.3		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2695-2697)GAG>CAG		apoptotic chromatin condensation inducer 1							117.0	106.0	110.0					14																	23533388		2203	4300	6503	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23533388C>G	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2695G>C	14.37:g.23533388C>G	ENSP00000262710:p.Glu899Gln					ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Missense_Mutation_p.E141Q|ACIN1_uc001wiq.3_Missense_Mutation_p.E141Q|ACIN1_uc001wir.3_Missense_Mutation_p.E172Q|ACIN1_uc001wis.3_Missense_Mutation_p.E580Q|ACIN1_uc010akg.2_Missense_Mutation_p.E886Q	p.E899Q	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	12	3023	-	all_cancers(95;1.36e-05)		899					B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.2695G>C	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272091	0.80469	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.16073	3.41;3.41;3.41;2.37;2.38;3.41;3.24	5.4	5.4	0.78164	.	0.000000	0.41605	D	0.000851	T	0.34221	0.0890	L	0.40543	1.245	0.52501	D	0.999956	D;D;D;D;D	0.64830	0.994;0.99;0.99;0.985;0.981	D;D;D;P;P	0.73708	0.981;0.958;0.958;0.787;0.727	T	0.00626	-1.1638	10	0.42905	T	0.14	-15.9955	18.1114	0.89537	0.0:1.0:0.0:0.0	.	886;899;859;172;141	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Q	140;172;141;899;859;141;886;129	ENSP00000451138:E140Q;ENSP00000345541:E172Q;ENSP00000350073:E141Q;ENSP00000262710:E899Q;ENSP00000405677:E859Q;ENSP00000380502:E141Q;ENSP00000451328:E886Q	ENSP00000262710:E899Q	E	-	1	0	ACIN1	22603228	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.358000	0.73055	2.814000	0.96858	0.563000	0.77884	GAG		0.567	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3		NM_014977		44	64	0	0	0	0.002222	0	44	64		
NIN	51199	broad.mit.edu	37	14	51259486	51259486	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:51259486C>A	ENST00000382041.3	-	5	569	c.379G>T	c.(379-381)Gag>Tag	p.E127*	NIN_ENST00000324330.9_Nonsense_Mutation_p.E127*|NIN_ENST00000382043.4_Nonsense_Mutation_p.E127*|NIN_ENST00000389868.3_Nonsense_Mutation_p.E127*|NIN_ENST00000453196.1_Nonsense_Mutation_p.E127*|NIN_ENST00000245441.5_Nonsense_Mutation_p.E127*|NIN_ENST00000530997.2_Nonsense_Mutation_p.E127*|NIN_ENST00000486200.1_5'UTR	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	127					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCAGTGGCTCAATCACCGTC	0.547			T	PDGFRB	MPD																																	uc001wym.2		NaN		Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(379-381)GAG>TAG		ninein isoform 5							109.0	87.0	95.0					14																	51259486		2203	4300	6503	SO:0001587	stop_gained	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51259486C>A	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.379G>T	14.37:g.51259486C>A	ENSP00000371472:p.Glu127*					NIN_uc001wyi.2_Nonsense_Mutation_p.E127*|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Nonsense_Mutation_p.E127*|NIN_uc010tqp.1_Nonsense_Mutation_p.E133*|NIN_uc001wyo.2_Nonsense_Mutation_p.E127*|NIN_uc001wyp.1_Nonsense_Mutation_p.E89*	p.E127*	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			5	570	-	all_epithelial(31;0.00244)|Breast(41;0.127)		127					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Nonsense_Mutation	SNP	ENST00000382041.3	37	c.379G>T	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	C	38	6.834760	0.97873	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	.	.	.	6.07	6.07	0.98685	.	0.195942	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-19.9331	19.2231	0.93806	0.0:1.0:0.0:0.0	.	.	.	.	X	127;127;127;127;133;127;127;127;89	.	ENSP00000245441:E127X	E	-	1	0	NIN	50329236	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	4.904000	0.63279	2.885000	0.99019	0.655000	0.94253	GAG		0.547	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946		35	50	1	0	4.62619e-21	0.004289	5.49749e-21	35	50		
FLVCR2	55640	broad.mit.edu	37	14	76045321	76045321	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:76045321G>A	ENST00000238667.4	+	1	362	c.6G>A	c.(4-6)gtG>gtA	p.V2V	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	2					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGGCGATGGTGAATGAAGGTC	0.597											OREG0022816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xrs.2		NaN																	0					0						c.(4-6)GTG>GTA		feline leukemia virus subgroup C cellular							52.0	55.0	54.0					14																	76045321		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76045321G>A	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.6G>A	14.37:g.76045321G>A			OREG0022816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1165		p.V2V	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	1	382	+			2					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.6G>A	CCDS9844.1																																																																																				0.597	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1		NM_017791		27	43	0	0	0	0.001786	0	27	43		
TDP1	55775	broad.mit.edu	37	14	90455360	90455360	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:90455360G>C	ENST00000335725.4	+	11	1493	c.1243G>C	c.(1243-1245)Gag>Cag	p.E415Q	TDP1_ENST00000393452.3_Missense_Mutation_p.E415Q|TDP1_ENST00000393454.2_Missense_Mutation_p.E415Q|TDP1_ENST00000357382.3_Missense_Mutation_p.E176Q|TDP1_ENST00000555880.1_Missense_Mutation_p.E415Q	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	415					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTTATGTTCTGAGTTTAAAGA	0.493								Repair of DNA-protein crosslinks																														uc001xxy.2		NaN																	0				ovary(2)	2						c.(1243-1245)GAG>CAG	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							158.0	145.0	149.0					14																	90455360		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90455360G>C	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1243G>C	14.37:g.90455360G>C	ENSP00000337353:p.Glu415Gln					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.E415Q|TDP1_uc010atn.2_Missense_Mutation_p.E415Q|TDP1_uc001xya.2_Missense_Mutation_p.E176Q|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.E415Q|TDP1_uc001xyd.1_Missense_Mutation_p.E30Q	p.E415Q	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	11	1542	+		all_cancers(154;0.185)	415					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1243G>C	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.0|29.0	4.964561|4.964561	0.92791|0.92791	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880|ENST00000556063	T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76870|.	0.4048|.	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	T|.	0.73936|.	-0.3825|.	10|.	0.19590|.	T|.	0.45|.	-8.7567|-8.7567	19.949|19.949	0.97192|0.97192	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	415;415;415;176;415|.	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8|.	.;.;.;.;TYDP1_HUMAN|.	Q|S	415;415;415;176;415|55	ENSP00000377098:E415Q;ENSP00000377099:E415Q;ENSP00000337353:E415Q;ENSP00000349952:E176Q;ENSP00000450628:E415Q|.	ENSP00000337353:E415Q|.	E|X	+|+	1|2	0|2	TDP1|TDP1	89525113|89525113	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.963000|0.963000	0.63663|0.63663	8.666000|8.666000	0.91149|0.91149	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAG|TGA		0.493	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1		NM_018319		32	39	0	0	0	0.002445	0	32	39		
MOAP1	64112	broad.mit.edu	37	14	93650050	93650050	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr14:93650050C>T	ENST00000556883.1	-	2	1022	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	TMEM251_ENST00000415050.2_5'Flank|TMEM251_ENST00000283534.4_5'Flank|RP11-371E8.4_ENST00000557574.1_5'Flank|MOAP1_ENST00000298894.4_Missense_Mutation_p.E180K			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	180					apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		cgtccaaattcttcttctcct	0.512																																						uc001ybj.2		NaN																	0				skin(2)|ovary(1)	3						c.(538-540)GAA>AAA		modulator of apoptosis 1							70.0	73.0	72.0					14																	93650050		2203	4300	6503	SO:0001583	missense	64112				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity	g.chr14:93650050C>T	BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184	ENST00000556883.1:c.538G>A	14.37:g.93650050C>T	ENSP00000451594:p.Glu180Lys					C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	p.E180K	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)	3	908	-		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)	180	EEE->AAA: No effect on RASSF1-binding; interacts with BAX in the absence of RASSF1.				B2RDF6|Q9H833|Q9HAS1	Missense_Mutation	SNP	ENST00000556883.1	37	c.538G>A	CCDS9908.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275917	0.40294	.	.	ENSG00000165943	ENST00000298894;ENST00000556883	T;T	0.10005	2.92;2.92	3.66	2.77	0.32553	.	.	.	.	.	T	0.08980	0.0222	L	0.36672	1.1	0.28429	N	0.917336	B	0.32160	0.358	B	0.32762	0.152	T	0.19128	-1.0315	9	0.39692	T	0.17	-0.171	7.0766	0.25207	0.0:0.878:0.0:0.122	.	180	Q96BY2	MOAP1_HUMAN	K	180	ENSP00000298894:E180K;ENSP00000451594:E180K	ENSP00000298894:E180K	E	-	1	0	MOAP1	92719803	0.989000	0.36119	0.914000	0.36105	0.629000	0.37895	1.162000	0.31786	1.131000	0.42111	0.650000	0.86243	GAA		0.512	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1				49	47	0	0	0	0.00361	0	49	47		
OR4N4	283694	broad.mit.edu	37	15	22382961	22382961	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:22382961C>T	ENST00000328795.4	+	1	580	c.489C>T	c.(487-489)atC>atT	p.I163I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGTCCTCATCCTCCGCTTGC	0.522																																						uc001yuc.1		NaN																	0				ovary(4)|skin(1)	5						c.(487-489)ATC>ATT		olfactory receptor, family 4, subfamily N,							89.0	74.0	79.0					15																	22382961		2185	4249	6434	SO:0001819	synonymous_variant	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22382961C>T	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.489C>T	15.37:g.22382961C>T						LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Silent_p.I163I	p.I163I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1470	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	163			Extracellular (Potential).		Q6IEY3|Q6IF56	Silent	SNP	ENST00000328795.4	37	c.489C>T	CCDS32173.1																																																																																				0.522	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1				55	235	0	0	0	0.00361	0	55	235		
ARHGAP11A	9824	broad.mit.edu	37	15	32928484	32928484	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:32928484G>A	ENST00000361627.3	+	12	2232	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E315K|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E315K	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	504					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TAAGTCTGAGGAAACCTTACT	0.368																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NaN																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(1510-1512)GAA>AAA		Rho GTPase activating protein 11A isoform 1							53.0	55.0	54.0					15																	32928484		2201	4300	6501	SO:0001583	missense	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32928484G>A	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1510G>A	15.37:g.32928484G>A	ENSP00000355090:p.Glu504Lys					ARHGAP11A_uc010ubw.1_Missense_Mutation_p.E315K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.E315K	p.E504K	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	12	2232	+		all_lung(180;1.3e-11)	504					B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	37	c.1510G>A	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	31	5.061777	0.93846	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.15139	2.45	5.86	5.86	0.93980	.	0.093456	0.46758	D	0.000272	T	0.45034	0.1322	M	0.73598	2.24	0.48762	D	0.999702	D	0.89917	1.0	D	0.69307	0.963	T	0.25779	-1.0122	10	0.59425	D	0.04	.	20.1818	0.98206	0.0:0.0:1.0:0.0	.	504	Q6P4F7	RHGBA_HUMAN	K	504;315	ENSP00000355090:E504K	ENSP00000355090:E504K	E	+	1	0	ARHGAP11A	30715776	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.840000	0.92125	2.759000	0.94783	0.650000	0.86243	GAA		0.368	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1		NM_014783		30	26	0	0	0	0.002096	0	30	26		
CATSPER2	117155	broad.mit.edu	37	15	43939559	43939559	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:43939559C>T	ENST00000321596.5	-	3	451	c.252G>A	c.(250-252)ttG>ttA	p.L84L	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Silent_p.L84L|CATSPER2_ENST00000464721.1_5'UTR|CATSPER2_ENST00000355438.2_Silent_p.L84L|CATSPER2_ENST00000396879.1_Silent_p.L84L|CATSPER2_ENST00000381761.1_Silent_p.L90L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	84					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GAAGCCTGCTCAACAGCCTCT	0.498																																						uc001zsh.2		NaN																	0				ovary(1)	1						c.(250-252)TTG>TTA		sperm-associated cation channel 2 isoform 2							50.0	57.0	55.0					15																	43939559		2199	4296	6495	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43939559C>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.252G>A	15.37:g.43939559C>T						CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L84L|CATSPER2_uc001zsj.2_Silent_p.L84L|CATSPER2_uc001zsk.2_Silent_p.L84L|CATSPER2_uc001zsl.1_RNA	p.L84L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	3	467	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	84			Cytoplasmic (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.252G>A	CCDS10099.1																																																																																				0.498	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2		NM_054020		38	151	0	0	0	0.00623	0	38	151		
SPG11	80208	broad.mit.edu	37	15	44876629	44876629	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:44876629G>C	ENST00000261866.7	-	30	5265	c.5249C>G	c.(5248-5250)tCc>tGc	p.S1750C	SPG11_ENST00000558319.1_Missense_Mutation_p.S1750C|SPG11_ENST00000558253.1_5'Flank|SPG11_ENST00000535302.2_Missense_Mutation_p.S1750C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1750C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1750					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAGAAAAAGGAAGAAGCTGC	0.463																																						uc001ztx.2		NaN																	0				ovary(4)|skin(1)	5						c.(5248-5250)TCC>TGC		spatacsin isoform 1							57.0	63.0	61.0					15																	44876629		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876629G>C		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5249C>G	15.37:g.44876629G>C	ENSP00000261866:p.Ser1750Cys					SPG11_uc010bdw.2_Missense_Mutation_p.S39C|SPG11_uc010ueh.1_Missense_Mutation_p.S1750C|SPG11_uc010uei.1_Missense_Mutation_p.S1750C|SPG11_uc001zty.1_Missense_Mutation_p.S479C	p.S1750C	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5280	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1750			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5249C>G	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614854	0.28712	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.77877	-1.13;-0.87;-0.87	5.94	2.78	0.32641	.	0.674999	0.14562	N	0.312036	T	0.80132	0.4567	L	0.57536	1.79	0.54753	D	0.99998	P;D;D;D	0.63880	0.947;0.993;0.993;0.993	P;P;P;P	0.55615	0.466;0.78;0.78;0.78	T	0.77752	-0.2470	10	0.59425	D	0.04	.	7.702	0.28627	0.0:0.2098:0.4287:0.3615	.	1750;1750;1750;1750	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	C	1750	ENSP00000261866:S1750C;ENSP00000445278:S1750C;ENSP00000396110:S1750C	ENSP00000261866:S1750C	S	-	2	0	SPG11	42663921	0.996000	0.38824	0.389000	0.26208	0.001000	0.01503	1.864000	0.39469	0.850000	0.35239	-0.224000	0.12420	TCC		0.463	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1				34	38	0	0	0	0.002445	0	34	38		
TNFAIP8L3	388121	broad.mit.edu	37	15	51397222	51397222	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:51397222A>G	ENST00000327536.5	-	1	251	c.152T>C	c.(151-153)cTt>cCt	p.L51P	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	51										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TCCCCTCTGAAGATGAAAAGA	0.542																																						uc001zyy.2		NaN																	0					0						c.(151-153)CTT>CCT		tumor necrosis factor, alpha-induced protein							192.0	164.0	173.0					15																	51397222		2196	4293	6489	SO:0001583	missense	388121							g.chr15:51397222A>G	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.152T>C	15.37:g.51397222A>G	ENSP00000328016:p.Leu51Pro						p.L51P	NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	252	-			51					Q6ZWD1	Missense_Mutation	SNP	ENST00000327536.5	37	c.152T>C	CCDS32241.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357707	0.41801	.	.	ENSG00000183578	ENST00000327536	T	0.33865	1.39	3.47	-0.525	0.11917	.	.	.	.	.	T	0.20047	0.0482	N	0.08118	0	0.09310	N	0.999998	D	0.55385	0.971	P	0.47299	0.543	T	0.12016	-1.0564	9	0.87932	D	0	.	3.7713	0.08643	0.4184:0.1977:0.0:0.3839	.	51	Q5GJ75	TP8L3_HUMAN	P	51	ENSP00000328016:L51P	ENSP00000328016:L51P	L	-	2	0	TNFAIP8L3	49184514	0.000000	0.05858	0.002000	0.10522	0.066000	0.16364	-0.642000	0.05427	-0.096000	0.12329	0.445000	0.29226	CTT		0.542	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1		NM_207381		14	110	0	0	0	0.003954	0	14	110		
TNFAIP8L3	388121	broad.mit.edu	37	15	51397239	51397240	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:51397239_51397240GA>AT	ENST00000327536.5	-	1	233_234	c.134_135TC>AT	c.(133-135)aTC>aAT	p.I45N	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	45										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		AAGATAAGGGGATGAGTCTTGT	0.535																																						uc001zyy.2		NaN																	0					0						c.(133-135)ATC>AAT		tumor necrosis factor, alpha-induced protein																																				SO:0001583	missense	388121							g.chr15:51397239_51397240GA>AT	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.134_135delinsAT	15.37:g.51397239_51397240delinsAT	ENSP00000328016:p.Ile45Asn						p.I45N	NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN		all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)	1	234_235	-			45					Q6ZWD1	Missense_Mutation	DNP	ENST00000327536.5	37	c.134_135TC>AT	CCDS32241.1																																																																																				0.535	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1		NM_207381		14	104	0	0	0	0.004672	0	14	104		
ADAM10	102	broad.mit.edu	37	15	58932978	58932978	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:58932978G>A	ENST00000260408.3	-	8	1453	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	ADAM10_ENST00000402627.1_Missense_Mutation_p.S36L|ADAM10_ENST00000396140.2_Missense_Mutation_p.S36L|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	337	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TAAACTACCTGAAGGTGCTCC	0.388																																						uc002afd.1		NaN																	0				skin(2)	2						c.(1009-1011)TCA>TTA		ADAM metallopeptidase domain 10 precursor							59.0	55.0	56.0					15																	58932978		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58932978G>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.1010C>T	15.37:g.58932978G>A	ENSP00000260408:p.Ser337Leu					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S36L|ADAM10_uc002afe.1_RNA	p.S337L	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	8	1454	-			337			Peptidase M12B.|Extracellular (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.1010C>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591503	0.66219	.	.	ENSG00000137845	ENST00000260408;ENST00000402627;ENST00000396136;ENST00000396140	D;D;D	0.88124	-2.34;-2.34;-2.34	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.062062	0.64402	D	0.000002	T	0.79191	0.4404	N	0.11255	0.115	0.80722	D	1	B;B	0.14805	0.002;0.011	B;B	0.18561	0.014;0.022	T	0.72541	-0.4262	10	0.46703	T	0.11	-16.3734	19.8856	0.96911	0.0:0.0:1.0:0.0	.	36;337	B4DU28;O14672	.;ADA10_HUMAN	L	337;36;156;36	ENSP00000260408:S337L;ENSP00000386056:S36L;ENSP00000379444:S36L	ENSP00000260408:S337L	S	-	2	0	ADAM10	56720270	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.771000	0.95319	0.650000	0.86243	TCA		0.388	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110		12	16	0	0	0	0.001855	0	12	16		
FAM63B	54629	broad.mit.edu	37	15	59139599	59139599	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:59139599C>T	ENST00000559228.1	+	7	1554	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L	FAM63B_ENST00000450403.2_Missense_Mutation_p.S491L			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	491										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TTCTGTGACTCAGAATTTCAT	0.393																																						uc002afj.2		NaN																	0				central_nervous_system(1)	1						c.(1471-1473)TCA>TTA		hypothetical protein LOC54629 isoform a							127.0	120.0	122.0					15																	59139599		1831	4082	5913	SO:0001583	missense	54629							g.chr15:59139599C>T	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1472C>T	15.37:g.59139599C>T	ENSP00000452885:p.Ser491Leu					FAM63B_uc002afi.2_Missense_Mutation_p.S491L|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA	p.S491L	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN			7	1674	+			491					B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	c.1472C>T	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	C	35	5.513063	0.96402	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.51071	0.72	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	M	0.78344	2.41	0.80722	D	1	P;D	0.54047	0.949;0.964	P;P	0.61201	0.771;0.885	T	0.72626	-0.4236	10	0.87932	D	0	-21.1506	19.6126	0.95616	0.0:1.0:0.0:0.0	.	491;491	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	L	491	ENSP00000393231:S491L	ENSP00000326194:S491L	S	+	2	0	FAM63B	56926891	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.783000	0.85696	2.630000	0.89119	0.591000	0.81541	TCA		0.393	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1		NM_019092		37	30	0	0	0	0.003271	0	37	30		
HERC1	8925	broad.mit.edu	37	15	63986695	63986695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:63986695G>A	ENST00000443617.2	-	29	5383	c.5296C>T	c.(5296-5298)Caa>Taa	p.Q1766*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1766					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTACTGGTTGATAATGAACA	0.423																																						uc002amp.2		NaN																	0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(5296-5298)CAA>TAA		hect domain and RCC1-like domain 1							83.0	76.0	78.0					15																	63986695		1890	4122	6012	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63986695G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.5296C>T	15.37:g.63986695G>A	ENSP00000390158:p.Gln1766*						p.Q1766*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			29	5444	-			1766					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.5296C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	46	12.629435	0.99684	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8385	0.96670	0.0:0.0:1.0:0.0	.	.	.	.	X	1766	.	ENSP00000390158:Q1766X	Q	-	1	0	HERC1	61773748	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.727000	0.98787	2.701000	0.92244	0.655000	0.94253	CAA		0.423	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922		32	31	0	0	0	0.002836	0	32	31		
SCAPER	49855	broad.mit.edu	37	15	76763592	76763592	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr15:76763592C>G	ENST00000563290.1	-	25	3134	c.3039G>C	c.(3037-3039)aaG>aaC	p.K1013N	SCAPER_ENST00000538941.2_Missense_Mutation_p.K767N|SCAPER_ENST00000324767.7_Missense_Mutation_p.K1013N			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	1013						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAAGGTAATCTTGTTACTAA	0.378																																						uc002bby.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(3037-3039)AAG>AAC		S-phase cyclin A-associated protein in the ER							110.0	103.0	105.0					15																	76763592		1851	4088	5939	SO:0001583	missense	49855					endoplasmic reticulum|nucleus	zinc ion binding	g.chr15:76763592C>G	AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.3039G>C	15.37:g.76763592C>G	ENSP00000454973:p.Lys1013Asn					SCAPER_uc010bkr.2_Missense_Mutation_p.K321N|SCAPER_uc002bbx.2_Missense_Mutation_p.K767N|SCAPER_uc002bbz.1_Missense_Mutation_p.K884N	p.K1013N	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN			24	3098	-			1012					F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	ENST00000563290.1	37	c.3039G>C	CCDS53962.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317798	0.81469	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.26810	1.73;1.71	5.94	5.94	0.96194	.	0.045007	0.85682	N	0.000000	T	0.38026	0.1025	M	0.75264	2.295	0.47511	D	0.999442	P;P	0.41929	0.765;0.708	B;P	0.45428	0.351;0.48	T	0.21895	-1.0232	10	0.87932	D	0	.	13.5417	0.61679	0.0:0.9291:0.0:0.0709	.	1012;767	Q9BY12;F5H7X8	SCAPE_HUMAN;.	N	1013;767;1035	ENSP00000326924:K1013N;ENSP00000442190:K767N	ENSP00000303560:K1035N	K	-	3	2	SCAPER	74550647	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.743000	0.55104	2.812000	0.96745	0.557000	0.71058	AAG		0.378	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1		NM_020843		27	40	0	0	0	0.007291	0	27	40		
PKMYT1	9088	broad.mit.edu	37	16	3025757	3025757	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3025757G>A	ENST00000262300.8	-	4	943	c.435C>T	c.(433-435)ttC>ttT	p.F145F	PKMYT1_ENST00000573944.1_Silent_p.F136F|PKMYT1_ENST00000574385.1_Silent_p.F136F|PKMYT1_ENST00000574730.1_Silent_p.F76F|PKMYT1_ENST00000440027.2_Silent_p.F145F|PKMYT1_ENST00000431515.2_Silent_p.F145F	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCCCCGGAATGGTGACA	0.677																																						uc002csn.2		NaN																	0				stomach(1)	1						c.(433-435)TTC>TTT		protein kinase Myt1 isoform 1							24.0	25.0	25.0					16																	3025757		2150	4223	6373	SO:0001819	synonymous_variant	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3025757G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.435C>T	16.37:g.3025757G>A						PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.F145F|PKMYT1_uc002cso.2_Silent_p.F76F|PKMYT1_uc002csp.2_Silent_p.F136F|PKMYT1_uc002csq.2_Silent_p.F136F|PKMYT1_uc010bsy.1_Silent_p.F136F	p.F145F	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			4	878	-			145			Protein kinase.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	c.435C>T	CCDS10486.1																																																																																				0.677	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2		NM_004203		33	24	0	0	0	0.002445	0	33	24		
PKMYT1	9088	broad.mit.edu	37	16	3026840	3026840	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3026840G>T	ENST00000262300.8	-	3	711	c.203C>A	c.(202-204)cCt>cAt	p.P68H	PKMYT1_ENST00000573944.1_Missense_Mutation_p.P59H|PKMYT1_ENST00000574385.1_Missense_Mutation_p.P59H|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000440027.2_Missense_Mutation_p.P68H|PKMYT1_ENST00000431515.2_Missense_Mutation_p.P68H	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	68	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGTCCGAGGAGGGAAGAGGCG	0.692																																						uc002csn.2		NaN																	0				stomach(1)	1						c.(202-204)CCT>CAT		protein kinase Myt1 isoform 1							7.0	9.0	8.0					16																	3026840		2159	4250	6409	SO:0001583	missense	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3026840G>T	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.203C>A	16.37:g.3026840G>T	ENSP00000262300:p.Pro68His					PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Missense_Mutation_p.P68H|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Missense_Mutation_p.P59H|PKMYT1_uc002csq.2_Missense_Mutation_p.P59H|PKMYT1_uc010bsy.1_Missense_Mutation_p.P59H	p.P68H	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			3	646	-			68			Pro-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000262300.8	37	c.203C>A	CCDS10486.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.565128	0.65651	.	.	ENSG00000127564	ENST00000431515;ENST00000262300;ENST00000440027;ENST00000402679;ENST00000382240	T;T;T;T	0.62232	0.04;0.11;0.1;0.17	5.78	4.82	0.62117	.	0.063724	0.64402	D	0.000006	T	0.75729	0.3889	M	0.63843	1.955	0.34244	D	0.677943	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.73380	0.956;0.921;0.98	D	0.84301	0.0505	10	0.87932	D	0	-7.5308	14.081	0.64922	0.0:0.0:0.8484:0.1516	.	59;68;68	A6NHV6;Q99640;F8W164	.;PMYT1_HUMAN;.	H	68;68;68;68;59	ENSP00000392855:P68H;ENSP00000262300:P68H;ENSP00000397739:P68H;ENSP00000371675:P59H	ENSP00000262300:P68H	P	-	2	0	PKMYT1	2966841	1.000000	0.71417	0.871000	0.34182	0.999000	0.98932	5.521000	0.67086	1.419000	0.47118	0.655000	0.94253	CCT		0.692	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2		NM_004203		5	4	1	0	0.000602214	0.000602	0.000693856	5	4		
PKMYT1	9088	broad.mit.edu	37	16	3026845	3026845	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:3026845G>A	ENST00000262300.8	-	3	706	c.198C>T	c.(196-198)ctC>ctT	p.L66L	PKMYT1_ENST00000573944.1_Silent_p.L57L|PKMYT1_ENST00000574385.1_Silent_p.L57L|PKMYT1_ENST00000574730.1_Intron|PKMYT1_ENST00000440027.2_Silent_p.L66L|PKMYT1_ENST00000431515.2_Silent_p.L66L	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	66	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGGAGGGAAGAGGCGGCTGA	0.687																																						uc002csn.2		NaN																	0				stomach(1)	1						c.(196-198)CTC>CTT		protein kinase Myt1 isoform 1							7.0	9.0	8.0					16																	3026845		2154	4242	6396	SO:0001819	synonymous_variant	9088				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:3026845G>A	AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.198C>T	16.37:g.3026845G>A						PKMYT1_uc010uwn.1_RNA|PKMYT1_uc002csm.2_Silent_p.L66L|PKMYT1_uc002cso.2_Intron|PKMYT1_uc002csp.2_Silent_p.L57L|PKMYT1_uc002csq.2_Silent_p.L57L|PKMYT1_uc010bsy.1_Silent_p.L57L	p.L66L	NM_004203	NP_004194	Q99640	PMYT1_HUMAN			3	641	-			66			Pro-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000262300.8	37	c.198C>T	CCDS10486.1																																																																																				0.687	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250963.2		NM_004203		4	4	0	0	0	0.000248	0	4	4		
BFAR	51283	broad.mit.edu	37	16	14749055	14749055	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:14749055C>T	ENST00000261658.2	+	5	1048	c.771C>T	c.(769-771)ctC>ctT	p.L257L	BFAR_ENST00000426842.2_Silent_p.L129L|BFAR_ENST00000563971.1_Silent_p.L132L	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	257					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCCAGAATCTCTGGGAATATA	0.343																																						uc002dco.2		NaN																	0				ovary(1)|skin(1)	2						c.(769-771)CTC>CTT		bifunctional apoptosis regulator							50.0	54.0	53.0					16																	14749055		2197	4300	6497	SO:0001819	synonymous_variant	51283				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding	g.chr16:14749055C>T	AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.771C>T	16.37:g.14749055C>T						BFAR_uc002dcp.2_Silent_p.L132L|BFAR_uc010uzh.1_Silent_p.L129L	p.L257L	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN			5	1052	+			257			Lumenal (Potential).		A8K4Z9|B4DUT0|D3DUG8	Silent	SNP	ENST00000261658.2	37	c.771C>T	CCDS10554.1																																																																																				0.343	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1		NM_016561		46	53	0	0	0	0.002222	0	46	53		
QPRT	23475	broad.mit.edu	37	16	29706228	29706228	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:29706228G>A	ENST00000395384.4	+	2	418	c.257G>A	c.(256-258)aGa>aAa	p.R86K	QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	86					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|protein oligomerization (GO:0051259)|quinolinate catabolic process (GO:0034213)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	nicotinate-nucleotide diphosphorylase (carboxylating) activity (GO:0004514)|protein homodimerization activity (GO:0042803)	p.R86K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	CCGGTGGCCAGAGTGGCCGAG	0.657																																						uc002dto.2		NaN																	1	Substitution - Missense(1)		breast(1)		0						c.(256-258)AGA>AAA		quinolinate phosphoribosyltransferase	Niacin(DB00627)						42.0	47.0	45.0					16																	29706228		2197	4300	6497	SO:0001583	missense	23475				protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity	g.chr16:29706228G>A	D78177	CCDS10651.1	16p11.2	2008-07-31	2008-07-31		ENSG00000103485	ENSG00000103485	2.4.2.19		9755	protein-coding gene	gene with protein product	"""nicotinate-nucleotide pyrophosphorylase (carboxylating)"""	606248				9473669	Standard	NM_014298		Approved	QPRTase	uc002dto.3	Q15274	OTTHUMG00000097770	ENST00000395384.4:c.257G>A	16.37:g.29706228G>A	ENSP00000378782:p.Arg86Lys					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.1_Intron	p.R86K	NM_014298	NP_055113	Q15274	NADC_HUMAN			2	335	+			86					Q53XW7|Q96G22|Q9BSG6	Missense_Mutation	SNP	ENST00000395384.4	37	c.257G>A	CCDS10651.1	.	.	.	.	.	.	.	.	.	.	.	5.689	0.311670	0.10789	.	.	ENSG00000103485	ENST00000449759;ENST00000395384	T	0.28069	1.63	4.75	2.46	0.29980	Quinolinate phosphoribosyl transferase, N-terminal (2);	1.179000	0.06271	N	0.695749	T	0.16214	0.0390	N	0.17248	0.465	0.32324	N	0.56203	B	0.02656	0.0	B	0.01281	0.0	T	0.36016	-0.9765	10	0.02654	T	1	-28.0011	6.4806	0.22061	0.6929:0.0:0.3071:0.0	.	86	Q15274	NADC_HUMAN	K	86	ENSP00000378782:R86K	ENSP00000378782:R86K	R	+	2	0	QPRT	29613729	0.075000	0.21258	0.936000	0.37596	0.006000	0.05464	0.695000	0.25527	0.773000	0.33404	-0.511000	0.04467	AGA		0.657	QPRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215011.2		NM_014298		40	37	0	0	0	0.002222	0	40	37		
CETP	1071	broad.mit.edu	37	16	57005235	57005235	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:57005235C>G	ENST00000566128.1	+	7	672	c.405C>G	c.(403-405)atC>atG	p.I135M	CETP_ENST00000200676.3_Missense_Mutation_p.I200M|CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Missense_Mutation_p.I200M					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGCCCCAGATCTGCAAAGAGA	0.577																																						uc002eki.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(598-600)ATC>ATG		cholesteryl ester transfer protein, plasma							203.0	178.0	187.0					16																	57005235		2198	4300	6498	SO:0001583	missense	1071				cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding	g.chr16:57005235C>G	M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.405C>G	16.37:g.57005235C>G	ENSP00000456276:p.Ile135Met					CETP_uc002ekj.2_Missense_Mutation_p.I200M	p.I200M	NM_000078	NP_000069	P11597	CETP_HUMAN			7	657	+			200						Missense_Mutation	SNP	ENST00000566128.1	37	c.600C>G		.	.	.	.	.	.	.	.	.	.	C	15.90	2.969564	0.53614	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.07327	3.2;3.2	4.33	2.19	0.27852	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	0.348037	0.26546	U	0.023766	T	0.10208	0.0250	N	0.19112	0.55	0.30197	N	0.798995	P;B	0.36837	0.571;0.113	B;P	0.53062	0.283;0.717	T	0.02161	-1.1203	10	0.87932	D	0	-7.6717	5.304	0.15793	0.0:0.5733:0.3012:0.1254	.	200;200	P11597-2;P11597	.;CETP_HUMAN	M	200	ENSP00000200676:I200M;ENSP00000369106:I200M	ENSP00000200676:I200M	I	+	3	3	CETP	55562736	1.000000	0.71417	0.962000	0.40283	0.907000	0.53573	0.299000	0.19138	1.937000	0.56155	0.467000	0.42956	ATC		0.577	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432305.1		NM_000078		116	137	0	0	0	0.00361	0	116	137		
NLRC5	84166	broad.mit.edu	37	16	57092020	57092020	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:57092020C>G	ENST00000262510.6	+	28	4015	c.3790C>G	c.(3790-3792)Ctg>Gtg	p.L1264V	NLRC5_ENST00000539144.1_Missense_Mutation_p.L1235V|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000308149.7_Missense_Mutation_p.L1235V|NLRC5_ENST00000436936.1_Missense_Mutation_p.L1264V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1264					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGATGCCTTCTGGAATGTCT	0.572																																						uc002ekk.1		NaN																	0				ovary(4)|skin(2)|breast(1)	7						c.(3790-3792)CTG>GTG		nucleotide-binding oligomerization domains 27							60.0	50.0	53.0					16																	57092020		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57092020C>G	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.3790C>G	16.37:g.57092020C>G	ENSP00000262510:p.Leu1264Val					NLRC5_uc002ekn.2_Intron|NLRC5_uc002ekl.2_Missense_Mutation_p.L1068V|NLRC5_uc002ekm.2_Missense_Mutation_p.L1038V|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekp.1_Missense_Mutation_p.L179V|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.L151V	p.L1264V	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			28	4015	+		all_neural(199;0.225)	1264			LRR 13.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.3790C>G	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.225|9.225	1.034466|1.034466	0.19590|0.19590	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805;ENST00000399221	T;T;T;T;T|.	0.53640|.	0.61;5.47;0.61;5.47;0.61|.	4.68|4.68	4.68|4.68	0.58851|0.58851	.|.	.|.	.|.	.|.	.|.	T|T	0.54095|0.54095	0.1837|0.1837	L|L	0.58101|0.58101	1.795|1.795	0.25030|0.25030	N|N	0.991275|0.991275	P;P;P;B|.	0.52577|.	0.925;0.502;0.954;0.016|.	P;B;P;B|.	0.52189|.	0.692;0.241;0.6;0.033|.	T|T	0.47661|0.47661	-0.9100|-0.9100	9|5	0.02654|.	T|.	1|.	.|.	13.0465|13.0465	0.58928|0.58928	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	948;1235;1264;1264|.	Q9H6Y0;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	V|C	1264;1235;1264;707;1235;740|1015;15	ENSP00000262510:L1264V;ENSP00000308886:L1235V;ENSP00000389739:L1264V;ENSP00000441727:L1235V;ENSP00000441597:L740V|.	ENSP00000262510:L1264V|.	L|S	+|+	1|2	2|0	NLRC5|NLRC5	55649521|55649521	0.852000|0.852000	0.29690|0.29690	0.615000|0.615000	0.29064|0.29064	0.151000|0.151000	0.21798|0.21798	0.668000|0.668000	0.25127|0.25127	2.442000|2.442000	0.82660|0.82660	0.549000|0.549000	0.68633|0.68633	CTG|TCT		0.572	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		10	12	0	0	0	0.000978	0	10	12		
CMTM1	113540	broad.mit.edu	37	16	66603973	66603973	+	Silent	SNP	G	G	A	rs574920092		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:66603973G>A	ENST00000457188.2	+	2	337	c.216G>A	c.(214-216)ctG>ctA	p.L72L	CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000533953.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Silent_p.L72L|CMTM1_ENST00000379500.2_Silent_p.L189L|CMTM1_ENST00000531885.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000328020.6_Silent_p.L189L	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	72	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		ACCACTTGCTGACCTATTTAC	0.388													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18731	0.0		0.0	False		,,,				2504	0.0					uc002epi.3		NaN																	0					0						c.(214-216)CTG>CTA		chemokine-like factor superfamily 1 isoform 1							181.0	180.0	181.0					16																	66603973		2201	4300	6501	SO:0001819	synonymous_variant	113540				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr16:66603973G>A	AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.216G>A	16.37:g.66603973G>A						CMTM1_uc002epb.3_RNA|CMTM1_uc002epc.3_RNA|CMTM1_uc002epd.3_Intron|CMTM1_uc002epe.3_Intron|CMTM1_uc002epf.3_Intron|CMTM1_uc002epg.3_Intron|CMTM1_uc002eph.3_Silent_p.L72L|CMTM1_uc002epl.3_Intron|CMTM1_uc002epj.3_Intron|CMTM1_uc002epk.3_Intron|CMTM1_uc002epa.3_Intron|CMTM1_uc002epn.3_Silent_p.L189L|CMTM1_uc002epo.3_RNA|CMTM1_uc002epp.3_RNA|CMTM1_uc002epq.3_RNA|CMTM1_uc010cds.2_RNA|CMTM1_uc002epr.3_Silent_p.L189L|CMTM1_uc002epm.3_RNA|CMTM1_uc002eps.2_RNA	p.L72L	NM_181269	NP_851786	Q8IZ96	CKLF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)	2	339	+		Ovarian(137;0.0563)	72			MARVEL.		Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	c.216G>A	CCDS45503.1																																																																																				0.388	CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2		NM_052999		76	101	0	0	0	0.00361	0	76	101		
MTSS1L	92154	broad.mit.edu	37	16	70713737	70713737	+	Missense_Mutation	SNP	C	C	G	rs369575875		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:70713737C>G	ENST00000338779.6	-	5	608	c.334G>C	c.(334-336)Gag>Cag	p.E112Q		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	112	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TTCCAGTCCTCGATGCGCTCC	0.726																																						uc002ezj.2		NaN																	0				central_nervous_system(1)	1						c.(334-336)GAG>CAG		metastasis suppressor 1-like		C	GLN/GLU	0,4396		0,0,2198	34.0	32.0	33.0		334	4.7	1.0	16		33	1,8599		0,1,4299	no	missense	MTSS1L	NM_138383.2	29	0,1,6497	GG,GC,CC		0.0116,0.0,0.0077	probably-damaging	112/748	70713737	1,12995	2198	4300	6498	SO:0001583	missense	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70713737C>G		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.334G>C	16.37:g.70713737C>G	ENSP00000341171:p.Glu112Gln					MTSS1L_uc002ezk.1_Missense_Mutation_p.E32Q	p.E112Q	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN			5	594	-			112			IMD.		A6NJI7|Q9BUA8	Missense_Mutation	SNP	ENST00000338779.6	37	c.334G>C	CCDS32476.1	.	.	.	.	.	.	.	.	.	.	C	35	5.565627	0.96540	0.0	1.16E-4	ENSG00000132613	ENST00000254951;ENST00000338779	T	0.45276	0.9	4.69	4.69	0.59074	IRSp53/MIM homology domain (IMD) (3);	0.049722	0.85682	D	0.000000	T	0.61400	0.2344	M	0.85197	2.74	0.58432	D	0.999999	P;D	0.54207	0.898;0.965	B;P	0.52189	0.381;0.692	T	0.71669	-0.4523	10	0.87932	D	0	-18.572	17.6181	0.88073	0.0:1.0:0.0:0.0	.	112;112	Q765P7-2;Q765P7	.;MTSSL_HUMAN	Q	112	ENSP00000341171:E112Q	ENSP00000254951:E112Q	E	-	1	0	MTSS1L	69271238	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.582000	0.82546	2.168000	0.68352	0.393000	0.25936	GAG		0.726	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3		NM_138383		14	10	0	0	0	0.003163	0	14	10		
ZFHX3	463	broad.mit.edu	37	16	72821414	72821414	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:72821414C>T	ENST00000268489.5	-	10	11433	c.10761G>A	c.(10759-10761)tcG>tcA	p.S3587S	ZFHX3_ENST00000397992.5_Silent_p.S2673S|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGGCAGACTGCGAGGTAGATG	0.617																																						uc002fck.2		NaN																	0				ovary(2)|skin(2)	4						c.(10759-10761)TCG>TCA		zinc finger homeobox 3 isoform A							234.0	184.0	201.0					16																	72821414		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821414C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10761G>A	16.37:g.72821414C>T						uc002fcj.1_Intron|ZFHX3_uc002fcl.2_Silent_p.S2673S	p.S3587S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	11434	-		Ovarian(137;0.13)	3587					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10761G>A	CCDS10908.1																																																																																				0.617	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		64	85	0	0	0	0.00361	0	64	85		
CHST6	4166	broad.mit.edu	37	16	75512780	75512780	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:75512780C>T	ENST00000332272.4	-	3	1126	c.947G>A	c.(946-948)cGc>cAc	p.R316H	CHST6_ENST00000390664.2_Missense_Mutation_p.R316H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	316					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGCTTCGCGGCGCGCACC	0.627																																						uc002fef.2		NaN																	0					0						c.(946-948)CGC>CAC		carbohydrate (N-acetylglucosamine 6-O)							67.0	58.0	61.0					16																	75512780		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512780C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.947G>A	16.37:g.75512780C>T	ENSP00000328983:p.Arg316His					CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.R316H	p.R316H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN			3	1127	-			316			Lumenal (Potential).		D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.947G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509170	0.64410	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.81821	-1.54;-1.54	4.73	2.35	0.29111	Sulfotransferase domain (1);	0.065039	0.56097	D	0.000026	T	0.71126	0.3303	L	0.29908	0.895	0.30393	N	0.780815	P	0.44734	0.842	P	0.46172	0.506	T	0.68953	-0.5273	10	0.46703	T	0.11	.	6.8432	0.23975	0.0:0.6703:0.0:0.3297	.	316	Q9GZX3	CHST6_HUMAN	H	316	ENSP00000328983:R316H;ENSP00000375079:R316H	ENSP00000328983:R316H	R	-	2	0	CHST6	74070281	0.000000	0.05858	0.999000	0.59377	0.891000	0.51852	0.485000	0.22324	0.990000	0.38787	0.591000	0.81541	CGC		0.627	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1		NM_021615		40	46	0	0	0	0.005524	0	40	46		
ZCCHC14	23174	broad.mit.edu	37	16	87446453	87446453	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:87446453G>C	ENST00000268616.4	-	12	1680	c.1463C>G	c.(1462-1464)tCa>tGa	p.S488*		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	488							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GTGGTGGCCTGATGGATTGGA	0.612																																						uc002fjz.1		NaN																	0				upper_aerodigestive_tract(1)|breast(1)	2						c.(1462-1464)TCA>TGA		zinc finger, CCHC domain containing 14							61.0	62.0	62.0					16																	87446453		2198	4300	6498	SO:0001587	stop_gained	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87446453G>C	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1463C>G	16.37:g.87446453G>C	ENSP00000268616:p.Ser488*					ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Nonsense_Mutation_p.S264*	p.S488*	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	1490	-			488					D3DUN1|O60324|Q3MJD8|Q9UFP0	Nonsense_Mutation	SNP	ENST00000268616.4	37	c.1463C>G	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.087682	0.55968	.	.	ENSG00000140948	ENST00000268616	.	.	.	5.7	5.7	0.88788	.	0.717966	0.14072	N	0.343286	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.7842	19.8234	0.96607	0.0:0.0:1.0:0.0	.	.	.	.	X	488	.	ENSP00000268616:S488X	S	-	2	0	ZCCHC14	86003954	0.987000	0.35691	0.006000	0.13384	0.034000	0.12701	7.990000	0.88215	2.677000	0.91161	0.462000	0.41574	TCA		0.612	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144		33	40	0	0	0	0.001786	0	33	40		
DPEP1	1800	broad.mit.edu	37	16	89703951	89703951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:89703951C>T	ENST00000393092.3	+	8	1135	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	DPEP1_ENST00000421184.1_Nonsense_Mutation_p.Q282*|DPEP1_ENST00000261615.4_Nonsense_Mutation_p.Q282*	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	282					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CAACCTGTCCCAAGTGGCCGG	0.577																																						uc010cin.2		NaN																	0				large_intestine(1)	1						c.(844-846)CAA>TAA		dipeptidase 1 precursor	Cilastatin(DB01597)						76.0	86.0	83.0					16																	89703951		2196	4298	6494	SO:0001587	stop_gained	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89703951C>T		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.844C>T	16.37:g.89703951C>T	ENSP00000376807:p.Gln282*					DPEP1_uc002fnr.3_Nonsense_Mutation_p.Q282*|DPEP1_uc002fns.3_Nonsense_Mutation_p.Q282*	p.Q282*	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	8	1047	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	282					D3DX80|Q96AK2	Nonsense_Mutation	SNP	ENST00000393092.3	37	c.844C>T	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691147	0.68271	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	.	.	.	5.28	5.28	0.74379	.	0.283907	0.38897	N	0.001527	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-35.5951	10.6573	0.45682	0.1373:0.7121:0.1507:0.0	.	.	.	.	X	282	.	ENSP00000261615:Q282X	Q	+	1	0	DPEP1	88231452	0.658000	0.27402	0.986000	0.45419	0.142000	0.21351	1.376000	0.34306	2.472000	0.83506	0.491000	0.48974	CAA		0.577	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1		NM_001128141		77	65	0	0	0	0.00361	0	77	65		
SLC43A2	124935	broad.mit.edu	37	17	1478943	1478943	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:1478943G>C	ENST00000301335.5	-	14	1753	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	SLC43A2_ENST00000412517.3_Silent_p.L418L|SLC43A2_ENST00000571650.1_Silent_p.L559L|SLC43A2_ENST00000382147.4_Silent_p.L559L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	555					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TTTTGAGGAAGAGTTTGTCAT	0.617																																						uc002fsv.2		NaN																	0					0						c.(1663-1665)CTC>CTG		solute carrier family 43, member 2							72.0	66.0	68.0					17																	1478943		2203	4300	6503	SO:0001819	synonymous_variant	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1478943G>C	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.1665C>G	17.37:g.1478943G>C						SLC43A2_uc002fsu.2_Silent_p.L559L	p.L555L	NM_152346	NP_689559	Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	14	1754	-			555					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Silent	SNP	ENST00000301335.5	37	c.1665C>G	CCDS11006.1																																																																																				0.617	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4		NM_152346		10	1	0	0	0	0.003163	0	10	1		
ITGAE	3682	broad.mit.edu	37	17	3649140	3649140	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:3649140C>G	ENST00000263087.4	-	18	2335	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	746					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGACAGCTTCTTACGTCTGA	0.587																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NaN																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(2236-2238)AGA>ACA		integrin, alpha E precursor							137.0	108.0	117.0					17																	3649140		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3649140C>G	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2237G>C	17.37:g.3649140C>G	ENSP00000263087:p.Arg746Thr						p.R746T	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	18	2336	-			746			Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.2237G>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	8.225	0.803427	0.16397	.	.	ENSG00000083457	ENST00000263087	T	0.48522	0.81	4.33	-1.31	0.09230	Integrin alpha-2 (1);	.	.	.	.	T	0.35740	0.0942	L	0.56769	1.78	0.09310	N	1	B	0.18610	0.029	B	0.15870	0.014	T	0.42120	-0.9470	9	0.59425	D	0.04	.	0.4012	0.00426	0.1866:0.2823:0.184:0.347	.	746	P38570	ITAE_HUMAN	T	746	ENSP00000263087:R746T	ENSP00000263087:R746T	R	-	2	0	ITGAE	3595889	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.313000	0.08103	-0.133000	0.11537	-1.293000	0.01348	AGA		0.587	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1		NM_002208		49	6	0	0	0	0.00361	0	49	6		
ANKFY1	51479	broad.mit.edu	37	17	4080443	4080443	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:4080443G>C	ENST00000341657.4	-	19	2788	c.2753C>G	c.(2752-2754)tCa>tGa	p.S918*	ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.S960*|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.S919*	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	918					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AATAATTTCTGAGCCTGCTTG	0.448																																						uc002fxq.1		NaN																	0				ovary(2)|skin(1)	3						c.(2752-2754)TCA>TGA		ankyrin repeat and FYVE domain containing 1							90.0	87.0	88.0					17																	4080443		1970	4170	6140	SO:0001587	stop_gained	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4080443G>C	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2753C>G	17.37:g.4080443G>C	ENSP00000343362:p.Ser918*					ANKFY1_uc002fxn.2_Nonsense_Mutation_p.S960*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.S919*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.S917*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.S860*	p.S918*	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			19	2791	-			918			ANK 17.		A8KA65|Q5RKV4|Q9ULG5	Nonsense_Mutation	SNP	ENST00000341657.4	37	c.2753C>G		.	.	.	.	.	.	.	.	.	.	G	39	7.861627	0.98531	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-11.8418	19.367	0.94468	0.0:0.0:1.0:0.0	.	.	.	.	X	919;860	.	ENSP00000343362:S919X	S	-	2	0	ANKFY1	4027192	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	9.869000	0.99810	2.826000	0.97356	0.563000	0.77884	TCA		0.448	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		45	1	0	0	0	0.00361	0	45	1		
GPS2	2874	broad.mit.edu	37	17	7216947	7216947	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:7216947G>A	ENST00000380728.2	-	7	874	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	GPS2_ENST00000391950.3_Nonsense_Mutation_p.Q192*|RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000389167.5_Nonsense_Mutation_p.Q192*			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	192					cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)	p.Q192*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGTGGGGGCTGAGCAGTCCCA	0.577											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gfv.1		NaN																	1	Substitution - Nonsense(1)		haematopoietic_and_lymphoid_tissue(1)	ovary(2)|pancreas(1)	3						c.(574-576)CAG>TAG		G protein pathway suppressor 2							92.0	90.0	91.0					17																	7216947		2203	4300	6503	SO:0001587	stop_gained	2874				cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	g.chr17:7216947G>A	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.574C>T	17.37:g.7216947G>A	ENSP00000370104:p.Gln192*		OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	640	GPS2_uc002gfw.1_Nonsense_Mutation_p.Q154*|GPS2_uc002gfx.1_Nonsense_Mutation_p.Q192*|NEURL4_uc002gfy.1_RNA|GPS2_uc002gfz.1_Nonsense_Mutation_p.Q192*	p.Q192*	NM_004489	NP_004480	Q13227	GPS2_HUMAN			6	837	-		Prostate(122;0.157)	192					B4DXA1|Q6FHM8	Nonsense_Mutation	SNP	ENST00000380728.2	37	c.574C>T	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216085	0.79352	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	4.84	4.84	0.62591	.	0.000000	0.64402	U	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.21	14.9843	0.71336	0.0:0.0:1.0:0.0	.	.	.	.	X	192	.	ENSP00000319371:Q192X	Q	-	1	0	GPS2	7157671	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.299000	0.72770	2.516000	0.84829	0.655000	0.94253	CAG		0.577	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4		NM_004489		64	5	0	0	0	0.00361	0	64	5		
ALOX12B	242	broad.mit.edu	37	17	7976526	7976526	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:7976526C>T	ENST00000319144.4	-	14	2126	c.1866G>A	c.(1864-1866)gtG>gtA	p.V622V	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	622	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACGTGGTCTTCACATCCGGCA	0.622										Multiple Myeloma(8;0.094)																												uc002gjy.1		NaN																	0					0						c.(1864-1866)GTG>GTA		arachidonate 12-lipoxygenase, 12R type							200.0	185.0	190.0					17																	7976526		2203	4300	6503	SO:0001819	synonymous_variant	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7976526C>T	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1866G>A	17.37:g.7976526C>T		Multiple Myeloma(8;0.094)					p.V622V	NM_001139	NP_001130	O75342	LX12B_HUMAN			14	2127	-			622			Lipoxygenase.			Silent	SNP	ENST00000319144.4	37	c.1866G>A	CCDS11129.1																																																																																				0.622	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3				4	119	0	0	0	0.000248	0	4	119		
DNAH9	1770	broad.mit.edu	37	17	11572854	11572854	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:11572854G>A	ENST00000262442.4	+	17	3164	c.3096G>A	c.(3094-3096)ggG>ggA	p.G1032G	DNAH9_ENST00000454412.2_Silent_p.G1032G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1032	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGTACGGGCACATCCTCA	0.517																																						uc002gne.2		NaN																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(3094-3096)GGG>GGA		dynein, axonemal, heavy chain 9 isoform 2							141.0	137.0	138.0					17																	11572854		2203	4300	6503	SO:0001819	synonymous_variant	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11572854G>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3096G>A	17.37:g.11572854G>A						DNAH9_uc010coo.2_Silent_p.G326G	p.G1032G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	17	3164	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1032			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	ENST00000262442.4	37	c.3096G>A	CCDS11160.1																																																																																				0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372		4	91	0	0	0	0.001168	0	4	91		
CPD	1362	broad.mit.edu	37	17	28791803	28791803	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:28791803G>C	ENST00000225719.4	+	21	4190	c.4114G>C	c.(4114-4116)Gag>Cag	p.E1372Q	CPD_ENST00000543464.2_Missense_Mutation_p.E1125Q	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1372						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGACACTGAAGAGGAAACATT	0.413																																						uc002hfb.1		NaN																	0				liver(1)|skin(1)	2						c.(4114-4116)GAG>CAG		carboxypeptidase D precursor							121.0	116.0	118.0					17																	28791803		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28791803G>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.4114G>C	17.37:g.28791803G>C	ENSP00000225719:p.Glu1372Gln					CPD_uc010wbo.1_Missense_Mutation_p.E1125Q|CPD_uc010wbp.1_RNA	p.E1372Q	NM_001304	NP_001295	O75976	CBPD_HUMAN			21	4129	+			1372			Cytoplasmic (Potential).		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.4114G>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144018	0.77888	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.23147	1.92;3.04	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.40247	0.1109	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.32107	-0.9919	10	0.72032	D	0.01	-4.0864	18.6776	0.91534	0.0:0.0:1.0:0.0	.	1125;1372	F5GZH6;O75976	.;CBPD_HUMAN	Q	1372;1125	ENSP00000225719:E1372Q;ENSP00000444443:E1125Q	ENSP00000225719:E1372Q	E	+	1	0	CPD	25815929	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.966000	0.93397	2.626000	0.88956	0.655000	0.94253	GAG		0.413	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3		NM_001304		57	75	0	0	0	0.00361	0	57	75		
ATP6V0A1	535	broad.mit.edu	37	17	40618453	40618453	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:40618453C>G	ENST00000343619.4	+	3	247	c.124C>G	c.(124-126)Cca>Gca	p.P42A	ATP6V0A1_ENST00000544137.1_Intron|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.P42A|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.P42A	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	42					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCAGTTAAATCCAGATGTGAA	0.318																																						uc002hzr.2		NaN																	0				pancreas(1)	1						c.(124-126)CCA>GCA		ATPase, H+ transporting, lysosomal V0 subunit a1							173.0	171.0	172.0					17																	40618453		2203	4300	6503	SO:0001583	missense	535				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr17:40618453C>G	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.124C>G	17.37:g.40618453C>G	ENSP00000342951:p.Pro42Ala					ATP6V0A1_uc002hzq.2_Missense_Mutation_p.P42A|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.P42A|ATP6V0A1_uc010cyg.2_Intron|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.P42A	p.P42A	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.137)	3	291	+		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)	42			Cytoplasmic (Potential).		B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	37	c.124C>G	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129245	0.56721	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728	D;D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99;-1.99	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	N	0.12422	0.21	0.80722	D	1	B;B;B;P;B;B	0.50272	0.118;0.004;0.001;0.933;0.002;0.002	B;B;B;P;B;B	0.56612	0.258;0.032;0.021;0.802;0.004;0.012	T	0.83146	-0.0106	10	0.31617	T	0.26	-6.9399	20.0537	0.97638	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1;F5H569	.;.;.;VPP1_HUMAN;.;.	A	42	ENSP00000342951:P42A;ENSP00000444676:P42A;ENSP00000377415:P42A;ENSP00000264649:P42A;ENSP00000443991:P42A	ENSP00000264649:P42A	P	+	1	0	ATP6V0A1	37871979	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.693000	0.68264	2.758000	0.94735	0.561000	0.74099	CCA		0.318	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1		NM_001130020		26	24	0	0	0	0.005443	0	26	24		
TLK2	11011	broad.mit.edu	37	17	60598163	60598163	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:60598163G>C	ENST00000326270.9	+	3	379	c.111G>C	c.(109-111)caG>caC	p.Q37H	TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000343388.7_Missense_Mutation_p.Q37H|TLK2_ENST00000542523.1_Missense_Mutation_p.Q37H|TLK2_ENST00000346027.5_Missense_Mutation_p.Q37H	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	37					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTTCCAACCAGAGCTTGTGCA	0.388																																						uc010ddp.2		NaN																	0				stomach(1)|kidney(1)	2						c.(109-111)CAG>CAC		tousled-like kinase 2 isoform A							106.0	94.0	98.0					17																	60598163		2203	4298	6501	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60598163G>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.111G>C	17.37:g.60598163G>C	ENSP00000316512:p.Gln37His					TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.Q37H|TLK2_uc002jaa.3_Missense_Mutation_p.Q37H|TLK2_uc010wpd.1_Missense_Mutation_p.Q37H	p.Q37H	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			3	379	+			37					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.111G>C		.	.	.	.	.	.	.	.	.	.	G	10.89	1.477337	0.26511	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.49	5.49	0.81192	.	0.107026	0.64402	D	0.000003	T	0.58481	0.2125	N	0.01576	-0.805	0.58432	D	0.999997	B;B;B	0.13145	0.004;0.004;0.007	B;B;B	0.17098	0.008;0.017;0.017	T	0.59348	-0.7471	10	0.10636	T	0.68	.	11.7797	0.52006	0.0798:0.0:0.9201:0.0	.	37;37;37	Q86UE8;Q86UE8-3;Q86UE8-2	TLK2_HUMAN;.;.	H	37	ENSP00000275780:Q37H;ENSP00000340800:Q37H;ENSP00000316512:Q37H;ENSP00000442311:Q37H	ENSP00000316512:Q37H	Q	+	3	2	TLK2	57951895	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	4.955000	0.63638	2.576000	0.86940	0.591000	0.81541	CAG		0.388	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1		NM_006852		47	110	0	0	0	0.00361	0	47	110		
CSH1	1442	broad.mit.edu	37	17	61972839	61972839	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:61972839C>T	ENST00000316193.8	-	4	591	c.450G>A	c.(448-450)ctG>ctA	p.L150L	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000329882.8_Silent_p.L150L	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	150						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCACCCCCATCAGCGTTTGGA	0.562									Russell-Silver syndrome																													uc002jcs.1		NaN																	0				skin(1)	1						c.(448-450)CTG>CTA		chorionic somatomammotropin hormone 1 isoform 1							62.0	64.0	64.0					17																	61972839		2194	4299	6493	SO:0001819	synonymous_variant	1442	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61972839C>T	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.450G>A	17.37:g.61972839C>T						CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_Silent_p.L111L|CSH1_uc002jcq.1_Silent_p.L111L|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Silent_p.L116L|CSH1_uc002jcu.1_Silent_p.L150L|CSH1_uc002jcv.1_Intron|CSH1_uc002jcw.2_Silent_p.L150L|CSH1_uc002jcy.2_3'UTR	p.L150L	NM_001317	NP_001308	P01243	CSH_HUMAN			4	566	-			150					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000316193.8	37	c.450G>A	CCDS11649.1																																																																																				0.562	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1		NM_001317		45	91	0	0	0	0.00361	0	45	91		
HELZ	9931	broad.mit.edu	37	17	65175038	65175038	+	Silent	SNP	G	G	A	rs185945079		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:65175038G>A	ENST00000358691.5	-	13	1333	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	HELZ_ENST00000580168.1_Silent_p.L389L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	389						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCAGGTATTCGAGATCTAAAT	0.279																																						uc010wqk.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1165-1167)CTC>CTT		helicase with zinc finger domain							69.0	65.0	66.0					17																	65175038		1815	4074	5889	SO:0001819	synonymous_variant	9931							g.chr17:65175038G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.1167C>T	17.37:g.65175038G>A						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L389L	p.L389L	NM_014877	NP_055692					13	1354	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.1167C>T	CCDS42374.1																																																																																				0.279	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1		NM_014877		37	62	0	0	0	0.004289	0	37	62		
TRIM65	201292	broad.mit.edu	37	17	73892977	73892977	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr17:73892977G>A	ENST00000269383.3	-	1	107	c.42C>T	c.(40-42)atC>atT	p.I14I	RP11-552F3.10_ENST00000587267.1_RNA	NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	14						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCAGGCAGATGGCGCAGG	0.726																																						uc002jpx.2		NaN																	0					0						c.(40-42)ATC>ATT		tripartite motif-containing 65							5.0	4.0	5.0					17																	73892977		2032	4003	6035	SO:0001819	synonymous_variant	201292					intracellular	zinc ion binding	g.chr17:73892977G>A	BC006138	CCDS11732.1	17q25.1	2013-01-09	2011-01-25		ENSG00000141569	ENSG00000141569		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	27316	protein-coding gene	gene with protein product			"""tripartite motif-containing 65"""			12477932	Standard	NM_173547		Approved		uc002jpx.4	Q6PJ69	OTTHUMG00000132127	ENST00000269383.3:c.42C>T	17.37:g.73892977G>A							p.I14I	NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)		1	78	-			14			RING-type.		Q4G0F0|Q6DKJ6|Q9BRP6	Silent	SNP	ENST00000269383.3	37	c.42C>T	CCDS11732.1																																																																																				0.726	TRIM65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255170.2		NM_173547		5	8	0	0	0	0.001168	0	5	8		
MIB1	57534	broad.mit.edu	37	18	19345737	19345737	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:19345737C>T	ENST00000261537.6	+	2	498	c.234C>T	c.(232-234)atC>atT	p.I78I	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	78					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TAATAGGCATCAAGCATGATG	0.363																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(232-234)ATC>ATT		mindbomb homolog 1							106.0	98.0	101.0					18																	19345737		2203	4300	6503	SO:0001819	synonymous_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345737C>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.234C>T	18.37:g.19345737C>T						MIB1_uc002ktp.2_5'UTR	p.I78I	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	234	+			78					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Silent	SNP	ENST00000261537.6	37	c.234C>T	CCDS11871.1																																																																																				0.363	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		29	38	0	0	0	0.001786	0	29	38		
MIB1	57534	broad.mit.edu	37	18	19345741	19345741	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:19345741C>G	ENST00000261537.6	+	2	502	c.238C>G	c.(238-240)Cat>Gat	p.H80D	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	80					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AGGCATCAAGCATGATGGAAC	0.363																																						uc002ktq.2		NaN																	0				ovary(4)	4						c.(238-240)CAT>GAT		mindbomb homolog 1							113.0	104.0	107.0					18																	19345741		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19345741C>G	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.238C>G	18.37:g.19345741C>G	ENSP00000261537:p.His80Asp					MIB1_uc002ktp.2_5'UTR	p.H80D	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		2	238	+			80			ZZ-type.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.238C>G	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812162	0.90707	.	.	ENSG00000101752	ENST00000261537	D	0.90676	-2.71	5.79	5.79	0.91817	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	H	0.96080	3.765	0.80722	D	1	P	0.44877	0.845	P	0.59288	0.855	D	0.97350	0.9963	10	0.87932	D	0	-16.348	20.0155	0.97477	0.0:1.0:0.0:0.0	.	80	Q86YT6	MIB1_HUMAN	D	80	ENSP00000261537:H80D	ENSP00000261537:H80D	H	+	1	0	MIB1	17599739	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.545000	0.82128	2.742000	0.94016	0.591000	0.81541	CAT		0.363	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1		NM_020774		32	39	0	0	0	0.003271	0	32	39		
IMPACT	55364	broad.mit.edu	37	18	22025392	22025392	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr18:22025392G>C	ENST00000284202.4	+	8	771	c.630G>C	c.(628-630)aaG>aaC	p.K210N		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	210					negative regulation of protein phosphorylation (GO:0001933)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					ATGAGAATAAGAAAATAGCTA	0.308																																						uc002kvh.3		NaN																	0					0						c.(628-630)AAG>AAC		Impact homolog							95.0	96.0	96.0					18																	22025392		2203	4297	6500	SO:0001583	missense	55364							g.chr18:22025392G>C	AB026264	CCDS11886.1	18q11.2-q12.1	2012-12-07	2012-12-07		ENSG00000154059	ENSG00000154059			20387	protein-coding gene	gene with protein product	"""RWD domain containing 5"""	615319	"""Impact homolog (mouse)"""			11116084	Standard	NM_018439		Approved	RWDD5	uc002kvh.4	Q9P2X3	OTTHUMG00000131943	ENST00000284202.4:c.630G>C	18.37:g.22025392G>C	ENSP00000284202:p.Lys210Asn					IMPACT_uc002kvg.3_Missense_Mutation_p.K192N	p.K210N	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN			8	742	+	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)		210					A8MXG0|Q49AM0|Q9H2X4	Missense_Mutation	SNP	ENST00000284202.4	37	c.630G>C	CCDS11886.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.237499	0.79800	.	.	ENSG00000154059	ENST00000284202	T	0.36340	1.26	5.32	4.45	0.53987	Ribosomal protein S5 domain 2-type fold (1);Impact, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.62088	1.915	0.58432	D	0.999992	P	0.51057	0.941	P	0.55577	0.779	T	0.52109	-0.8619	10	0.72032	D	0.01	.	11.5085	0.50481	0.0855:0.0:0.9145:0.0	.	210	Q9P2X3	IMPCT_HUMAN	N	210	ENSP00000284202:K210N	ENSP00000284202:K210N	K	+	3	2	IMPACT	20279390	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.116000	0.94341	1.384000	0.46424	-0.237000	0.12165	AAG		0.308	IMPACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254901.1		NM_018439		30	47	0	0	0	0.002836	0	30	47		
BSG	682	broad.mit.edu	37	19	580761	580761	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:580761G>C	ENST00000333511.3	+	5	841	c.771G>C	c.(769-771)aaG>aaC	p.K257N	BSG_ENST00000346916.4_Missense_Mutation_p.K77N|BSG_ENST00000353555.4_Missense_Mutation_p.K141N|BSG_ENST00000545507.2_Missense_Mutation_p.K48N	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	257	Ig-like V-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGTACAAGATCACTGACT	0.612																																						uc002loz.2		NaN																	0					0						c.(769-771)AAG>AAC		basigin isoform 1 precursor							59.0	57.0	58.0					19																	580761		2201	4299	6500	SO:0001583	missense	682				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding	g.chr19:580761G>C	L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.771G>C	19.37:g.580761G>C	ENSP00000333769:p.Lys257Asn					BSG_uc002loy.2_Missense_Mutation_p.K77N|BSG_uc002lpa.2_Missense_Mutation_p.K141N|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.K141N|BSG_uc002lpc.2_Missense_Mutation_p.K304N|BSG_uc002lpd.2_5'Flank	p.K257N	NM_001728	NP_001719	P35613	BASI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	869	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	257			Extracellular (Potential).|Ig-like V-type.		A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Missense_Mutation	SNP	ENST00000333511.3	37	c.771G>C	CCDS12033.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.415164	0.42817	.	.	ENSG00000172270	ENST00000346916;ENST00000545507;ENST00000333511;ENST00000353555	T;T;T	0.43294	0.95;0.95;0.95	4.09	1.49	0.22878	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.933528	0.08995	N	0.863886	T	0.62901	0.2466	M	0.89353	3.025	0.09310	N	1	D;D;D;D;D	0.69078	0.997;0.995;0.997;0.995;0.997	D;D;D;D;D	0.77004	0.982;0.985;0.989;0.985;0.985	T	0.47774	-0.9091	10	0.48119	T	0.1	-22.6704	2.0087	0.03483	0.3644:0.0:0.3802:0.2554	.	141;257;141;257;77	P35613-2;B4DNE1;Q54A51;P35613;A6NJW1	.;.;.;BASI_HUMAN;.	N	77;48;257;141	ENSP00000344707:K77N;ENSP00000333769:K257N;ENSP00000343809:K141N	ENSP00000333769:K257N	K	+	3	2	BSG	531761	0.006000	0.16342	0.004000	0.12327	0.001000	0.01503	0.585000	0.23879	0.858000	0.35431	-0.258000	0.10820	AAG		0.612	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438630.2		NM_001728		19	38	0	0	0	0.007413	0	19	38		
MUC16	94025	broad.mit.edu	37	19	9089752	9089752	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:9089752G>A	ENST00000397910.4	-	1	2266	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	688	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAAAGCTGAGGACTGTAG	0.507																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(2062-2064)TCA>TTA		mucin 16							100.0	99.0	99.0					19																	9089752		2030	4203	6233	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089752G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2063C>T	19.37:g.9089752G>A	ENSP00000381008:p.Ser688Leu						p.S688L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	2267	-			688			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2063C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	4.402	0.074299	0.08485	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.56	1.56	0.23342	.	.	.	.	.	T	0.01800	0.0057	N	0.08118	0	.	.	.	B	0.17667	0.023	B	0.14023	0.01	T	0.23583	-1.0184	8	0.87932	D	0	.	6.5643	0.22503	0.0:0.0:1.0:0.0	.	688	B5ME49	.	L	688	ENSP00000381008:S688L	ENSP00000381008:S688L	S	-	2	0	MUC16	8950752	0.000000	0.05858	0.004000	0.12327	0.009000	0.06853	0.071000	0.14594	1.175000	0.42826	0.205000	0.17691	TCA		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		58	50	0	0	0	0.00361	0	58	50		
KRI1	65095	broad.mit.edu	37	19	10668240	10668240	+	Silent	SNP	G	G	A	rs144674130	byFrequency	TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:10668240G>A	ENST00000312962.6	-	16	1642	c.1623C>T	c.(1621-1623)ctC>ctT	p.L541L	KRI1_ENST00000361821.5_Silent_p.L537L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	535						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTCAGTGCTGAGGCCAAAGT	0.602													G|||	5	0.000998403	0.0	0.0	5008	,	,		16579	0.005		0.0	False		,,,				2504	0.0					uc002moy.1		NaN																	0				ovary(1)	1						c.(1621-1623)CTC>CTT		KRI1 homolog							110.0	93.0	99.0					19																	10668240		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10668240G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1623C>T	19.37:g.10668240G>A						KRI1_uc002mow.1_Silent_p.L160L|KRI1_uc002mox.1_Silent_p.L537L	p.L541L	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		16	1632	-			541					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1623C>T	CCDS12242.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	6.117	0.389845	0.11581	.	.	ENSG00000129347	ENST00000541101	.	.	.	5.22	0.0142	0.14099	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49969	-0.8882	4	.	.	.	-33.7901	9.7072	0.40222	0.0:0.432:0.3631:0.2049	.	.	.	.	L	570	.	.	S	-	2	0	KRI1	10529240	0.997000	0.39634	1.000000	0.80357	0.563000	0.35712	0.307000	0.19296	0.525000	0.28522	0.563000	0.77884	TCA		0.602	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		23	25	0	0	0	0.002299	0	23	25		
KRI1	65095	broad.mit.edu	37	19	10668297	10668297	+	Silent	SNP	G	G	A	rs558559887		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:10668297G>A	ENST00000312962.6	-	16	1585	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	KRI1_ENST00000361821.5_Silent_p.I518I	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	516						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCAGGTCGTCGATGATGTCCT	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		15727	0.001		0.0	False		,,,				2504	0.0					uc002moy.1		NaN																	0				ovary(1)	1						c.(1564-1566)ATC>ATT		KRI1 homolog							212.0	160.0	178.0					19																	10668297		2203	4300	6503	SO:0001819	synonymous_variant	65095							g.chr19:10668297G>A		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.1566C>T	19.37:g.10668297G>A						KRI1_uc002mow.1_Silent_p.I141I|KRI1_uc002mox.1_Silent_p.I518I	p.I522I	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		16	1575	-			522					Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Silent	SNP	ENST00000312962.6	37	c.1566C>T	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	G	9.603	1.129157	0.21041	.	.	ENSG00000129347	ENST00000541101	.	.	.	5.22	-7.49	0.01355	.	.	.	.	.	T	0.68320	0.2988	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.77360	-0.2617	5	0.87932	D	0	-15.8871	14.2586	0.66070	0.5771:0.0:0.4229:0.0	.	.	.	.	L	551	.	ENSP00000445847:S551L	S	-	2	0	KRI1	10529297	0.039000	0.19947	0.491000	0.27477	0.872000	0.50106	-1.055000	0.03493	-1.131000	0.02910	-0.471000	0.05019	TCG		0.617	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1		NM_023008		27	46	0	0	0	0.001786	0	27	46		
SPC24	147841	broad.mit.edu	37	19	11258787	11258787	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:11258787G>T	ENST00000592540.1	-	3	343	c.312C>A	c.(310-312)ctC>ctA	p.L104L		NM_182513.2	NP_872319.1	Q8NBT2	SPC24_HUMAN	SPC24, NDC80 kinetochore complex component	104	Interaction with the N-terminus of SPBC25.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleolus (GO:0005730)|nucleus (GO:0005634)				autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|prostate(1)	5						GCTCTCTGGTGAGCTGAGTAG	0.607																																						uc002mql.2		NaN																	0					0						c.(310-312)CTC>CTA		spindle pole body component 24 homolog							49.0	50.0	50.0					19																	11258787		1994	4171	6165	SO:0001819	synonymous_variant	147841				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr19:11258787G>T	AK075287	CCDS45974.1	19p13.2	2013-06-05	2013-06-05	2007-03-02		ENSG00000161888			26913	protein-coding gene	gene with protein product		609394	"""spindle pole body component 24 homolog (S. cerevisiae)"", ""SPC24, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC24			Standard	NM_182513		Approved	FLJ90806	uc002mql.2	Q8NBT2		ENST00000592540.1:c.312C>A	19.37:g.11258787G>T							p.L104L	NM_182513	NP_872319	Q8NBT2	SPC24_HUMAN			3	344	-			104			Potential.|Interaction with the N-terminus of SPBC25.		B4DZZ7|C9JGC4	Silent	SNP	ENST00000592540.1	37	c.312C>A	CCDS45974.1																																																																																				0.607	SPC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453059.1		NM_182513		7	18	1	0	2.0095e-06	0.001984	2.3254e-06	7	18		
LOC105372277	105372277	broad.mit.edu	37	19	12491855	12491855	+	3'UTR	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:12491855G>C	ENST00000435033.1	-	0	740																											GTTTCCCAAAGAATTGAAGGA	0.403																																						uc002mts.3		NaN																	0				breast(3)|ovary(2)|skin(1)	6						c.(220-222)TCT>TGT		Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.																																				SO:0001624	3_prime_UTR_variant	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12491855G>C																												ENST00000435033.1:c.*396C>G	19.37:g.12491855G>C							p.S74C			Q96GE5	ZN799_HUMAN			4	687	-			180			C2H2-type 2; degenerate.			Missense_Mutation	SNP	ENST00000435033.1	37	c.221C>G																																																																																					0.403	CTD-3105H18.14-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000344100.1				23	40	0	0	0	0.00278	0	23	40		
ZNF791	163049	broad.mit.edu	37	19	12739532	12739532	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:12739532C>T	ENST00000343325.4	+	4	1351	c.1189C>T	c.(1189-1191)Cta>Tta	p.L397L	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.L365L|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000540038.1_Silent_p.L288L|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	397					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CAATTATCCTCTAGATTTGAA	0.363																																						uc002mua.2		NaN																	0				ovary(2)	2						c.(1189-1191)CTA>TTA		zinc finger protein 791							76.0	85.0	82.0					19																	12739532		2203	4300	6503	SO:0001819	synonymous_variant	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739532C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1189C>T	19.37:g.12739532C>T						ZNF791_uc010xml.1_Silent_p.L365L|ZNF791_uc010dyu.1_Silent_p.L288L|ZNF791_uc010xmm.1_Silent_p.L288L	p.L397L	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1351	+			397			C2H2-type 11.		B7Z586|Q8NC99	Silent	SNP	ENST00000343325.4	37	c.1189C>T	CCDS12273.1																																																																																				0.363	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1		NM_153358		48	64	0	0	0	0.00361	0	48	64		
RAD23A	5886	broad.mit.edu	37	19	13059906	13059906	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:13059906G>A	ENST00000586534.1	+	6	673	c.612G>A	c.(610-612)ggG>ggA	p.G204G	RAD23A_ENST00000541222.1_Silent_p.G39G|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Silent_p.G204G|RAD23A_ENST00000592268.1_Silent_p.G204G			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	204					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GAATTCCTGGGAGCCCCGAGC	0.637								Nucleotide excision repair (NER)																														uc002mvw.1		NaN																	0				central_nervous_system(1)	1						c.(610-612)GGG>GGA	NER	UV excision repair protein RAD23 homolog A							33.0	37.0	36.0					19																	13059906		2202	4299	6501	SO:0001819	synonymous_variant	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13059906G>A		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.612G>A	19.37:g.13059906G>A						RAD23A_uc002mvx.1_Silent_p.G204G|RAD23A_uc002mvz.1_Silent_p.G204G|RAD23A_uc002mwa.1_Silent_p.G204G|RAD23A_uc002mvy.1_Silent_p.G39G|RAD23A_uc010xmw.1_Silent_p.G39G	p.G204G	NM_005053	NP_005044	P54725	RD23A_HUMAN			6	721	+			204					K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	ENST00000586534.1	37	c.612G>A	CCDS12289.1																																																																																				0.637	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1		NM_005053		7	8	0	0	0	0.001984	0	7	8		
ZNF93	81931	broad.mit.edu	37	19	20044762	20044762	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:20044762G>C	ENST00000343769.5	+	4	1026	c.998G>C	c.(997-999)aGa>aCa	p.R333T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R333I(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ACACATAAGAGAATTCATACT	0.378																																						uc002non.2		NaN																	1	Substitution - Missense(1)		large_intestine(1)	pancreas(1)	1						c.(997-999)AGA>ACA		zinc finger protein 93							53.0	53.0	53.0					19																	20044762		2203	4300	6503	SO:0001583	missense	81931					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20044762G>C	M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.998G>C	19.37:g.20044762G>C	ENSP00000342002:p.Arg333Thr						p.R333T	NM_031218	NP_112495	P35789	ZNF93_HUMAN			4	1109	+			333			C2H2-type 7.		A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Missense_Mutation	SNP	ENST00000343769.5	37	c.998G>C	CCDS32973.1	.	.	.	.	.	.	.	.	.	.	g	15.81	2.943065	0.53079	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	T	0.25414	1.8	0.85	0.85	0.18980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31513	0.0799	M	0.75085	2.285	0.24250	N	0.995323	P	0.52316	0.952	P	0.49085	0.6	T	0.16837	-1.0389	9	0.51188	T	0.08	.	3.2487	0.06806	0.3464:0.0:0.6536:0.0	.	333	P35789	ZNF93_HUMAN	T	333	ENSP00000342002:R333T	ENSP00000342002:R333T	R	+	2	0	ZNF93	19905762	0.000000	0.05858	0.726000	0.30738	0.725000	0.41563	-0.218000	0.09240	0.192000	0.20272	0.195000	0.17529	AGA		0.378	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460808.2		NM_031218		31	10	0	0	0	0.001786	0	31	10		
ZNF30	90075	broad.mit.edu	37	19	35434903	35434903	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:35434903G>C	ENST00000601142.1	+	5	1270	c.1033G>C	c.(1033-1035)Gaa>Caa	p.E345Q	ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.E346Q|ZNF30_ENST00000426813.2_Missense_Mutation_p.E264Q|ZNF30_ENST00000303586.7_Missense_Mutation_p.E346Q			P17039	ZNF30_HUMAN	zinc finger protein 30	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GAAACCTTTTGAATGTAAGGA	0.448																																						uc010edp.1		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1033-1035)GAA>CAA		zinc finger protein 30 isoform b							80.0	86.0	84.0					19																	35434903		2203	4300	6503	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35434903G>C	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1033G>C	19.37:g.35434903G>C	ENSP00000469954:p.Glu345Gln					ZNF30_uc002nxf.2_Missense_Mutation_p.E264Q|ZNF30_uc010edq.1_Missense_Mutation_p.E346Q|ZNF30_uc010edr.1_Missense_Mutation_p.E346Q	p.E345Q	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1411	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		345			C2H2-type 9.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1033G>C	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	g	9.949	1.219751	0.22373	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.20200	2.09;2.09	2.23	2.23	0.28157	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.03903	-0.33	0.09310	N	1	D;D	0.57257	0.974;0.979	P;P	0.50162	0.617;0.633	T	0.08764	-1.0706	9	0.51188	T	0.08	.	6.1344	0.20223	0.0:0.0:0.6983:0.3017	.	346;345	P17039-2;P17039	.;ZNF30_HUMAN	Q	346;345;264;82	ENSP00000403441:E346Q;ENSP00000416457:E264Q	ENSP00000303889:E345Q	E	+	1	0	ZNF30	40126743	0.000000	0.05858	0.017000	0.16124	0.178000	0.23041	-2.802000	0.00760	1.243000	0.43853	0.404000	0.27445	GAA		0.448	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1		NM_194325		54	66	0	0	0	0.00361	0	54	66		
ZNF461	92283	broad.mit.edu	37	19	37129762	37129762	+	Silent	SNP	T	T	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:37129762T>C	ENST00000588268.1	-	6	1712	c.1485A>G	c.(1483-1485)aaA>aaG	p.K495K	ZNF461_ENST00000360357.4_Silent_p.K472K|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCATAGGGTTTCTCACCAG	0.393																																						uc002oem.2		NaN																	0					0						c.(1483-1485)AAA>AAG		gonadotropin inducible transcription repressor							81.0	87.0	85.0					19																	37129762		2202	4298	6500	SO:0001819	synonymous_variant	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37129762T>C	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.1485A>G	19.37:g.37129762T>C						ZNF461_uc002oen.2_Silent_p.K464K|ZNF461_uc010xtj.1_Silent_p.K472K	p.K495K	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	1713	-	Esophageal squamous(110;0.198)		495					A8K9W9|Q6VSF7|Q9ULZ8	Silent	SNP	ENST00000588268.1	37	c.1485A>G	CCDS54257.1																																																																																				0.393	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1		NM_153257		15	68	0	0	0	0.00245	0	15	68		
CATSPERG	57828	broad.mit.edu	37	19	38853103	38853103	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:38853103G>C	ENST00000409235.3	+	19	2360	c.2245G>C	c.(2245-2247)Gag>Cag	p.E749Q	AC005625.1_ENST00000590304.1_RNA|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E709Q|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	749					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTACAACCTCGAGTCCGCGTA	0.582																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(2245-2247)GAG>CAG		cation channel, sperm-associated, gamma							72.0	70.0	70.0					19																	38853103		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38853103G>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2245G>C	19.37:g.38853103G>C	ENSP00000386962:p.Glu749Gln					CATSPERG_uc002oig.3_Missense_Mutation_p.E709Q|CATSPERG_uc002oif.3_Missense_Mutation_p.E389Q|CATSPERG_uc010efw.2_RNA	p.E749Q	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			19	2332	+			749			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.2245G>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080019	0.55753	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.35236	1.32;1.32	4.45	-5.59	0.02505	.	1.676950	0.03327	N	0.192758	T	0.20577	0.0495	L	0.29908	0.895	0.09310	N	0.999994	B;B	0.12013	0.002;0.005	B;B	0.13407	0.003;0.009	T	0.08554	-1.0716	10	0.25106	T	0.35	-6.3087	1.3688	0.02207	0.2306:0.1315:0.3642:0.2737	.	749;709	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	Q	709;749;749	ENSP00000387057:E709Q;ENSP00000386962:E749Q	ENSP00000386962:E749Q	E	+	1	0	CATSPERG	43544943	0.000000	0.05858	0.003000	0.11579	0.057000	0.15508	-0.544000	0.06077	-1.485000	0.01854	-1.598000	0.00824	GAG		0.582	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		36	54	0	0	0	0.003271	0	36	54		
ARHGAP35	2909	broad.mit.edu	37	19	47423517	47423517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:47423517C>T	ENST00000404338.3	+	1	1585	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	529	FF 4.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R529*(2)									AGAGGAACAGCGATTTAAAGC	0.443																																						uc010ekv.2		NaN																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(1)	1						c.(1585-1587)CGA>TGA		glucocorticoid receptor DNA binding factor 1							157.0	153.0	155.0					19																	47423517		1968	4152	6120	SO:0001587	stop_gained	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47423517C>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1585C>T	19.37:g.47423517C>T	ENSP00000385720:p.Arg529*						p.R529*	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	1585	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	529			FF 4.		A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	ENST00000404338.3	37	c.1585C>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	37	6.029047	0.97216	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	.	.	.	5.82	3.66	0.41972	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.1871	13.8748	0.63647	0.3934:0.6066:0.0:0.0	.	.	.	.	X	529	.	ENSP00000324820:R529X	R	+	1	2	ARHGAP35	52115357	0.032000	0.19561	1.000000	0.80357	0.997000	0.91878	-0.314000	0.08092	0.781000	0.33589	0.561000	0.74099	CGA		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		74	102	0	0	0	0.00361	0	74	102		
SULT2B1	6820	broad.mit.edu	37	19	49090664	49090664	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:49090664C>T	ENST00000201586.2	+	3	571	c.393C>T	c.(391-393)ttC>ttT	p.F131F	SULT2B1_ENST00000323090.4_Silent_p.F116F	NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	131					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	alcohol sulfotransferase activity (GO:0004027)|steroid sulfotransferase activity (GO:0050294)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCAGATCTTCACCAAGGCCT	0.622																																						uc002pjl.2		NaN																	0				skin(1)	1						c.(391-393)TTC>TTT		sulfotransferase family, cytosolic, 2B, member 1							92.0	82.0	85.0					19																	49090664		2203	4300	6503	SO:0001819	synonymous_variant	6820				3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	g.chr19:49090664C>T	U92314	CCDS12723.1, CCDS12724.1	19q13.3	2008-02-05				ENSG00000088002		"""Sulfotransferases, cytosolic"""	11459	protein-coding gene	gene with protein product		604125				9799594	Standard	NM_177973		Approved	HSST2	uc002pjl.3	O00204		ENST00000201586.2:c.393C>T	19.37:g.49090664C>T						SULT2B1_uc002pjm.2_Silent_p.F116F	p.F131F	NM_177973	NP_814444	O00204	ST2B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)	3	474	+		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	131					O00205|O75814	Silent	SNP	ENST00000201586.2	37	c.393C>T	CCDS12723.1																																																																																				0.622	SULT2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466140.1		NM_004605		47	66	0	0	0	0.00361	0	47	66		
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000600910.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														uc002pqh.2		NaN																	8	Substitution - coding silent(8)		lung(6)|urinary_tract(2)	ovary(1)|kidney(1)	2						c.(46-48)CCT>CCC	Other_BER_factors	polynucleotide kinase 3' phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.P16P|PNKP_uc010enm.2_Silent_p.P16P|PNKP_uc002pqk.2_Silent_p.P16P	p.P16P	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	1	100	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1		NM_007254		7	23	0	0	0	0.001368	0	7	23		
MBOAT7	79143	broad.mit.edu	37	19	54678031	54678031	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:54678031C>T	ENST00000245615.1	-	8	1606	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	TMC4_ENST00000376591.4_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.E303K|MBOAT7_ENST00000338624.6_Missense_Mutation_p.E303K|TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	376					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGCCGGCCCTCGGCAGCCAGG	0.687																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NaN																	0					0						c.(1126-1128)GAG>AAG		membrane bound O-acyltransferase domain							53.0	60.0	58.0					19																	54678031		2201	4298	6499	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54678031C>T	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1126G>A	19.37:g.54678031C>T	ENSP00000245615:p.Glu376Lys					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.E60K|MBOAT7_uc010yem.1_Missense_Mutation_p.E358K|MBOAT7_uc002qdr.2_Missense_Mutation_p.E376K|MBOAT7_uc002qds.2_Missense_Mutation_p.E303K|MBOAT7_uc010yen.1_Missense_Mutation_p.E303K	p.E376K	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1392	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		376					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1126G>A	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	c	17.49	3.403072	0.62288	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.77489	-1.1;-1.1;-1.1	4.54	3.5	0.40072	.	0.170125	0.50627	D	0.000104	D	0.87277	0.6137	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.994;0.988	D	0.87179	0.2226	10	0.46703	T	0.11	-23.3717	12.0769	0.53649	0.0:0.9127:0.0:0.0873	.	358;303;376	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	K	303;303;376	ENSP00000410503:E303K;ENSP00000344377:E303K;ENSP00000245615:E376K	ENSP00000245615:E376K	E	-	1	0	MBOAT7	59369843	1.000000	0.71417	0.274000	0.24659	0.069000	0.16628	5.187000	0.65087	1.048000	0.40298	-0.227000	0.12334	GAG		0.687	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1		NM_024298		62	50	0	0	0	0.00361	0	62	50		
RNF103	7844	broad.mit.edu	37	2	86832395	86832395	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86832395G>A	ENST00000237455.4	-	4	1597	c.629C>T	c.(628-630)gCa>gTa	p.A210V	RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	210					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CCGAGAAGCTGCATGAGCAGT	0.343																																						uc002srn.2		NaN																	0				central_nervous_system(1)	1						c.(628-630)GCA>GTA		ring finger protein 103							149.0	151.0	151.0					2																	86832395		2203	4300	6503	SO:0001583	missense	7844				central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:86832395G>A	D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.629C>T	2.37:g.86832395G>A	ENSP00000237455:p.Ala210Val					VPS24_uc010ytl.1_Intron|RNF103_uc002srm.2_Missense_Mutation_p.A71V|uc002sro.2_Intron	p.A210V	NM_005667	NP_005658	O00237	RN103_HUMAN			4	1598	-			210					A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	ENST00000237455.4	37	c.629C>T	CCDS33237.1	.	.	.	.	.	.	.	.	.	.	G	10.51	1.371556	0.24771	.	.	ENSG00000239305	ENST00000237455	T	0.39406	1.08	5.64	5.64	0.86602	.	0.051517	0.85682	D	0.000000	T	0.36441	0.0967	L	0.31294	0.92	0.50813	D	0.999896	B	0.15930	0.015	B	0.15052	0.012	T	0.06391	-1.0829	10	0.38643	T	0.18	-14.9418	19.7014	0.96054	0.0:0.0:1.0:0.0	.	210	O00237	RN103_HUMAN	V	210	ENSP00000237455:A210V	ENSP00000237455:A210V	A	-	2	0	RNF103	86685906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.050000	0.76620	2.660000	0.90430	0.563000	0.77884	GCA		0.343	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330041.2		NM_005667		82	75	0	0	0	0.00361	0	82	75		
RMND5A	64795	broad.mit.edu	37	2	86992169	86992169	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86992169G>A	ENST00000283632.4	+	5	1036	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	181	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.			E -> G (in Ref. 1; BAB14257). {ECO:0000305}.						kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						GTCAAACCGGGAAATGCTTAT	0.373																																						uc010ytm.1		NaN																	0				ovary(1)|skin(1)	2						c.(541-543)GAA>AAA		required for meiotic nuclear division 5 homolog							134.0	129.0	131.0					2																	86992169		2203	4300	6503	SO:0001583	missense	64795							g.chr2:86992169G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.541G>A	2.37:g.86992169G>A	ENSP00000283632:p.Glu181Lys					RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.E181K	p.E181K	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			5	918	+			181	E -> G (in Ref. 1; BAB14257).		CTLH.		D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.541G>A	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221792	0.58560	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.52	5.52	0.82312	CTLH, C-terminal LisH motif (2);	0.000000	0.85682	D	0.000000	T	0.56731	0.2005	L	0.40543	1.245	0.58432	D	0.999998	B	0.21821	0.061	B	0.25759	0.063	T	0.50466	-0.8825	9	0.21540	T	0.41	-22.0503	19.434	0.94783	0.0:0.0:1.0:0.0	.	181	Q9H871	RMD5A_HUMAN	K	181	.	ENSP00000283632:E181K	E	+	1	0	RMND5A	86845680	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.243000	0.78219	2.590000	0.87494	0.563000	0.77884	GAA		0.373	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2		NM_022780		34	40	0	0	0	0.007835	0	34	40		
RMND5A	64795	broad.mit.edu	37	2	86992260	86992260	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:86992260G>A	ENST00000283632.4	+	5	1127	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	211										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						ACAAATCAGCGAGAGGCATTA	0.368																																						uc010ytm.1		NaN																	0				ovary(1)|skin(1)	2						c.(631-633)CGA>CAA		required for meiotic nuclear division 5 homolog							105.0	104.0	105.0					2																	86992260		2203	4300	6503	SO:0001583	missense	64795							g.chr2:86992260G>A	BC012165	CCDS1991.1	2p11.2	2012-07-20			ENSG00000153561	ENSG00000153561			25850	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog A"""					12477932	Standard	NM_022780		Approved	FLJ13910, RMD5, GID2, GID2A	uc002srs.4	Q9H871	OTTHUMG00000130262	ENST00000283632.4:c.632G>A	2.37:g.86992260G>A	ENSP00000283632:p.Arg211Gln					RMND5A_uc002srs.3_Intron|RMND5A_uc002srr.2_Missense_Mutation_p.R211Q	p.R211Q	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN			5	1009	+			211					D6W5M6|Q6NTF0|Q9H6W5|Q9H9H2	Missense_Mutation	SNP	ENST00000283632.4	37	c.632G>A	CCDS1991.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675568	0.29783	.	.	ENSG00000153561	ENST00000283632	.	.	.	5.52	5.52	0.82312	Ran binding protein-like, CRA domain (1);	0.000000	0.64402	D	0.000013	T	0.37046	0.0989	N	0.03983	-0.305	0.51767	D	0.999939	B	0.02656	0.0	B	0.08055	0.003	T	0.18555	-1.0333	9	0.21540	T	0.41	-15.9534	19.434	0.94783	0.0:0.0:1.0:0.0	.	211	Q9H871	RMD5A_HUMAN	Q	211	.	ENSP00000283632:R211Q	R	+	2	0	RMND5A	86845771	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.874000	0.63064	2.590000	0.87494	0.563000	0.77884	CGA		0.368	RMND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252591.2		NM_022780		38	39	0	0	0	0.005524	0	38	39		
ANKRD39	51239	broad.mit.edu	37	2	97514175	97514175	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:97514175C>T	ENST00000393537.4	-	4	522	c.415G>A	c.(415-417)Gag>Aag	p.E139K		NM_016466.5	NP_057550.3	Q53RE8	ANR39_HUMAN	ankyrin repeat domain 39	139										NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	6						TGACCCCTCTCAGCAGCCTGT	0.582																																						uc002sxd.3		NaN																	0					0						c.(415-417)GAG>AAG		ankyrin repeat domain 39							67.0	62.0	64.0					2																	97514175		2203	4300	6503	SO:0001583	missense	51239							g.chr2:97514175C>T	BC031303	CCDS2028.1	2q11.2	2013-01-10			ENSG00000213337	ENSG00000213337		"""Ankyrin repeat domain containing"""	28640	protein-coding gene	gene with protein product						11042152	Standard	NM_016466		Approved	MGC41816	uc002sxd.4	Q53RE8	OTTHUMG00000130530	ENST00000393537.4:c.415G>A	2.37:g.97514175C>T	ENSP00000377170:p.Glu139Lys						p.E139K	NM_016466	NP_057550	Q53RE8	ANR39_HUMAN			4	447	-			139			ANK 4.		Q59FU2|Q8N5X5|Q9P0S5	Missense_Mutation	SNP	ENST00000393537.4	37	c.415G>A	CCDS2028.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704659	0.68615	.	.	ENSG00000213337	ENST00000393537	T	0.65178	-0.14	5.52	4.64	0.57946	Ankyrin repeat-containing domain (4);	0.178224	0.35407	U	0.003240	T	0.62122	0.2402	N	0.12611	0.24	0.40560	D	0.981208	D	0.71674	0.998	D	0.67382	0.951	T	0.68682	-0.5344	10	0.56958	D	0.05	-28.6401	13.5874	0.61940	0.0:0.8439:0.1561:0.0	.	139	Q53RE8	ANR39_HUMAN	K	139	ENSP00000377170:E139K	ENSP00000377170:E139K	E	-	1	0	ANKRD39	96877902	0.996000	0.38824	0.863000	0.33907	0.379000	0.30106	3.759000	0.55227	1.333000	0.45449	0.585000	0.79938	GAG		0.582	ANKRD39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252951.2		NM_016466		45	39	0	0	0	0.00361	0	45	39		
AFF3	3899	broad.mit.edu	37	2	100199373	100199373	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:100199373C>T	ENST00000409236.2	-	15	2792	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	AFF3_ENST00000317233.4_Missense_Mutation_p.E894K|AFF3_ENST00000356421.2_Missense_Mutation_p.E919K|AFF3_ENST00000409579.1_Missense_Mutation_p.E919K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	894					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E919K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTTAAGTCCTCGCTGGTGTAT	0.463																																						uc002tag.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(2680-2682)GAG>AAG		AF4/FMR2 family, member 3 isoform 1							166.0	151.0	156.0					2																	100199373		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100199373C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2680G>A	2.37:g.100199373C>T	ENSP00000387207:p.Glu894Lys					AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K	p.E894K	NM_002285	NP_002276	P51826	AFF3_HUMAN			16	2916	-			894					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.2680G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346244	0.41599	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.83	4.95	0.65309	.	0.077409	0.49305	D	0.000147	T	0.44871	0.1314	L	0.34521	1.04	0.38021	D	0.934856	P;D	0.56287	0.599;0.975	B;B	0.39840	0.223;0.311	T	0.47611	-0.9104	10	0.07813	T	0.8	.	12.6553	0.56784	0.0:0.9245:0.0:0.0755	.	894;919	P51826;P51826-2	AFF3_HUMAN;.	K	894;919;919;894	ENSP00000317421:E894K;ENSP00000348793:E919K;ENSP00000386834:E919K;ENSP00000387207:E894K	ENSP00000317421:E894K	E	-	1	0	AFF3	99565805	0.946000	0.32159	1.000000	0.80357	0.996000	0.88848	1.906000	0.39887	2.770000	0.95276	0.655000	0.94253	GAG		0.463	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		47	44	0	0	0	0.003214	0	47	44		
TTN	7273	broad.mit.edu	37	2	179612753	179612753	+	Intron	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:179612753C>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A4792S|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAATGCTGCCAACTCTGGT	0.458																																						uc002unb.2		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(14374-14376)GCA>TCA		titin isoform novex-3							65.0	55.0	59.0					2																	179612753		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179612753C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+5097G>T	2.37:g.179612753C>A						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.A4792S	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	14598	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.14374G>T		.	.	.	.	.	.	.	.	.	.	C	14.17	2.455484	0.43634	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.57436	0.4	5.59	-0.371	0.12525	.	.	.	.	.	T	0.32466	0.0830	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.17961	-1.0352	9	0.39692	T	0.17	.	4.5109	0.11910	0.2596:0.4723:0.0:0.2681	.	4792	Q8WZ42-6	.	S	4792;106	ENSP00000354117:A4792S	ENSP00000304714:A106S	A	-	1	0	TTN	179320998	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.701000	0.05075	0.013000	0.14918	0.585000	0.79938	GCA		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		30	29	1	0	3.73988e-18	0.00632	4.42442e-18	30	29		
CERKL	375298	broad.mit.edu	37	2	182413568	182413568	+	Silent	SNP	G	G	A	rs139270710		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:182413568G>A	ENST00000339098.5	-	8	989	c.990C>T	c.(988-990)gtC>gtT	p.V330V	CERKL_ENST00000409440.3_Silent_p.V286V|CERKL_ENST00000410087.3_Silent_p.V304V|CERKL_ENST00000374970.2_Silent_p.V235V|CERKL_ENST00000374969.2_Silent_p.V191V|CERKL_ENST00000479558.1_5'UTR			Q49MI3	CERKL_HUMAN	ceramide kinase-like	330	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGCAGACGTCGACCAGCTGTA	0.428																																						uc002unx.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(988-990)GTC>GTT		ceramide kinase-like isoform b		G	,,,,	0,4406		0,0,2203	59.0	63.0	62.0		990,573,705,858,912	-11.2	0.1	2	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CERKL	NM_001030311.2,NM_001030312.2,NM_001030313.2,NM_001160277.1,NM_201548.4	,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,	330/559,191/420,235/464,286/515,304/533	182413568	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182413568G>A	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.990C>T	2.37:g.182413568G>A						CERKL_uc002uny.2_Silent_p.V304V|CERKL_uc010zfm.1_Silent_p.V286V|CERKL_uc002unz.2_Silent_p.V52V|CERKL_uc002uoa.2_Silent_p.V235V|CERKL_uc002uob.2_Silent_p.V52V|CERKL_uc002uoc.2_Silent_p.V191V|CERKL_uc010frk.2_RNA|CERKL_uc002uod.1_Silent_p.V99V|CERKL_uc002uoe.2_Silent_p.V304V|CERKL_uc002unw.2_5'Flank	p.V330V	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		8	1091	-			330			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Silent	SNP	ENST00000339098.5	37	c.990C>T	CCDS42789.1																																																																																				0.428	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1				22	34	0	0	0	0.003954	0	22	34		
KIF1A	547	broad.mit.edu	37	2	241726723	241726723	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr2:241726723T>C	ENST00000320389.7	-	5	532	c.374A>G	c.(373-375)gAc>gGc	p.D125G	KIF1A_ENST00000498729.2_Missense_Mutation_p.D125G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	125	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGAGAAGAGGTCCTCGCAGAG	0.657																																						uc002vzy.2		NaN																	0				lung(1)	1						c.(373-375)GAC>GGC		axonal transport of synaptic vesicles							79.0	97.0	91.0					2																	241726723		2072	4200	6272	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241726723T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.374A>G	2.37:g.241726723T>C	ENSP00000322791:p.Asp125Gly					KIF1A_uc010fzk.2_Missense_Mutation_p.D125G|KIF1A_uc002vzz.1_Missense_Mutation_p.D125G	p.D125G	NM_004321	NP_004312	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	5	520	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	125			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.374A>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.459664	0.84317	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75589	-0.95;-0.95;-0.95	4.51	4.51	0.55191	Kinesin, motor domain (4);	0.054758	0.64402	U	0.000001	T	0.79052	0.4381	L	0.38953	1.18	0.80722	D	1	D;D;D	0.76494	0.975;0.999;0.957	D;D;P	0.67900	0.943;0.954;0.767	T	0.81536	-0.0888	10	0.87932	D	0	.	13.5075	0.61491	0.0:0.0:0.0:1.0	.	125;125;125	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	G	125	ENSP00000322791:D125G;ENSP00000438388:D125G;ENSP00000384231:D125G	ENSP00000322791:D125G	D	-	2	0	KIF1A	241375396	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.938000	0.63519	1.680000	0.50976	0.533000	0.62120	GAC		0.657	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483		31	43	0	0	0	0.002445	0	31	43		
SLC24A3	57419	broad.mit.edu	37	20	19701741	19701741	+	Missense_Mutation	SNP	A	A	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:19701741A>C	ENST00000328041.6	+	17	2089	c.1892A>C	c.(1891-1893)aAc>aCc	p.N631T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	631					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGAGTTCAACGTGTTCACC	0.582																																						uc002wrl.2		NaN																	0				ovary(1)	1						c.(1891-1893)AAC>ACC		solute carrier family 24							270.0	210.0	230.0					20																	19701741		2203	4300	6503	SO:0001583	missense	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19701741A>C	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1892A>C	20.37:g.19701741A>C	ENSP00000333519:p.Asn631Thr						p.N631T	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			17	2089	+			631			Helical; (Potential).		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	ENST00000328041.6	37	c.1892A>C	CCDS13140.1	.	.	.	.	.	.	.	.	.	.	A	20.5	3.996179	0.74703	.	.	ENSG00000185052	ENST00000328041	T	0.62941	-0.01	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.92122	3.275	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.87399	0.2368	9	.	.	.	.	14.6117	0.68519	1.0:0.0:0.0:0.0	.	631	Q9HC58	NCKX3_HUMAN	T	631	ENSP00000333519:N631T	.	N	+	2	0	SLC24A3	19649741	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.183000	0.94887	1.992000	0.58205	0.455000	0.32223	AAC		0.582	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4		NM_020689		67	72	0	0	0	0.00361	0	67	72		
ASXL1	171023	broad.mit.edu	37	20	31017811	31017811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:31017811C>T	ENST00000375687.4	+	8	1097	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q220*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	225	Interaction with KDM1A. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CGAGGTCACCCAGGACCCTGC	0.687			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2		NaN		Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		0				haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(673-675)CAG>TAG		additional sex combs like 1 isoform 1							18.0	22.0	21.0					20																	31017811		2172	4239	6411	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31017811C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.673C>T	20.37:g.31017811C>T	ENSP00000364839:p.Gln225*					ASXL1_uc010geb.2_Intron	p.Q225*	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			7	1099	+			225					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.673C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	38	6.883437	0.97908	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000306058	.	.	.	4.89	4.89	0.63831	.	0.216024	0.31847	N	0.006970	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-7.5671	12.6125	0.56558	0.1654:0.8346:0.0:0.0	.	.	.	.	X	225;225;225;220	.	ENSP00000305119:Q220X	Q	+	1	0	ASXL1	30481472	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.048000	0.41278	2.715000	0.92844	0.655000	0.94253	CAG		0.687	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2		NM_015338		22	17	0	0	0	0.00333	0	22	17		
RBPJL	11317	broad.mit.edu	37	20	43940948	43940948	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:43940948G>A	ENST00000343694.3	+	6	604	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	RBPJL_ENST00000372743.1_Missense_Mutation_p.G178S|RBPJL_ENST00000372741.3_Missense_Mutation_p.G178S	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	178					positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				gctgcgCGGGGGCCGGGAGCT	0.612																																						uc002xns.2		NaN																	0				ovary(1)	1						c.(532-534)GGC>AGC		recombining binding protein L							29.0	32.0	31.0					20																	43940948		2203	4300	6503	SO:0001583	missense	11317				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:43940948G>A	AB024964	CCDS13349.1, CCDS63283.1, CCDS63284.1	20q13.12	2013-10-18	2007-02-26	2007-02-26	ENSG00000124232	ENSG00000124232			13761	protein-coding gene	gene with protein product			"""recombining binding protein suppressor of hairless (Drosophila)-like"""	RBPSUHL		9929984	Standard	NM_014276		Approved	RBP-L, SUH, SUHL	uc002xns.3	Q9UBG7	OTTHUMG00000033055	ENST00000343694.3:c.532G>A	20.37:g.43940948G>A	ENSP00000341243:p.Gly178Ser					RBPJL_uc002xnt.2_Missense_Mutation_p.G178S	p.G178S	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN			6	604	+		Myeloproliferative disorder(115;0.0122)	178					O95723|Q5QPU9|Q5QPV0|Q9ULV9	Missense_Mutation	SNP	ENST00000343694.3	37	c.532G>A	CCDS13349.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970571	0.53614	.	.	ENSG00000124232	ENST00000372743;ENST00000372741;ENST00000343694	D;D;D	0.83335	-1.71;-1.71;-1.71	3.9	3.9	0.45041	LAG1, DNA binding (2);p53-like transcription factor, DNA-binding (1);	0.255835	0.32258	N	0.006359	D	0.85775	0.5775	L	0.49640	1.575	0.51482	D	0.999929	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.987	T	0.82579	-0.0387	10	0.26408	T	0.33	-32.9779	9.2567	0.37588	0.1006:0.0:0.8994:0.0	.	178;178	Q5QPV1;Q9UBG7	.;RBPJL_HUMAN	S	178	ENSP00000361828:G178S;ENSP00000361826:G178S;ENSP00000341243:G178S	ENSP00000341243:G178S	G	+	1	0	RBPJL	43374362	1.000000	0.71417	0.940000	0.37924	0.899000	0.52679	3.917000	0.56424	2.144000	0.66660	0.448000	0.29417	GGC		0.612	RBPJL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080391.1		NM_014276		16	24	0	0	0	0.004007	0	16	24		
CSE1L	1434	broad.mit.edu	37	20	47707519	47707519	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707519C>A	ENST00000262982.2	+	21	2448	c.2325C>A	c.(2323-2325)ttC>ttA	p.F775L	CSE1L_ENST00000542325.1_Missense_Mutation_p.F558L|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Missense_Mutation_p.F719L	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	775					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTGCTATTCCAGAGACTTC	0.308																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(2323-2325)TTC>TTA		CSE1 chromosome segregation 1-like protein							54.0	58.0	57.0					20																	47707519		2203	4297	6500	SO:0001583	missense	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47707519C>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2325C>A	20.37:g.47707519C>A	ENSP00000262982:p.Phe775Leu					CSE1L_uc010zyg.1_Missense_Mutation_p.F558L|CSE1L_uc010ghx.2_Missense_Mutation_p.F719L|CSE1L_uc010ghy.2_Missense_Mutation_p.F396L|CSE1L_uc010zyh.1_Missense_Mutation_p.F424L	p.F775L	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		21	2459	+			775					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	ENST00000262982.2	37	c.2325C>A	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711160	0.68730	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.41065	1.01;1.01;1.01	5.47	3.52	0.40303	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	N	0.16790	0.44	0.80722	D	1	B;P;B;B;P	0.40250	0.146;0.709;0.008;0.013;0.709	B;P;B;B;B	0.45099	0.084;0.469;0.059;0.051;0.302	T	0.09662	-1.0664	10	0.02654	T	1	-15.6424	10.6934	0.45884	0.0:0.7913:0.0:0.2087	.	464;558;719;719;775	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	L	373;775;558;719	ENSP00000262982:F775L;ENSP00000446477:F558L;ENSP00000379495:F719L	ENSP00000262982:F775L	F	+	3	2	CSE1L	47140926	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.770000	0.55310	0.775000	0.33450	-0.145000	0.13849	TTC		0.308	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		16	62	1	0	1.61788e-16	0.002445	1.9055e-16	16	62		
CSE1L	1434	broad.mit.edu	37	20	47707529	47707529	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707529C>T	ENST00000262982.2	+	21	2458	c.2335C>T	c.(2335-2337)Cag>Tag	p.Q779*	CSE1L_ENST00000542325.1_Nonsense_Mutation_p.Q562*|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Nonsense_Mutation_p.Q723*	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	779					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCAGAGACTTCAGAATTCCAA	0.303																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(2335-2337)CAG>TAG		CSE1 chromosome segregation 1-like protein							51.0	55.0	53.0					20																	47707529		2202	4297	6499	SO:0001587	stop_gained	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47707529C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2335C>T	20.37:g.47707529C>T	ENSP00000262982:p.Gln779*					CSE1L_uc010zyg.1_Nonsense_Mutation_p.Q562*|CSE1L_uc010ghx.2_Nonsense_Mutation_p.Q723*|CSE1L_uc010ghy.2_Nonsense_Mutation_p.Q400*|CSE1L_uc010zyh.1_Nonsense_Mutation_p.Q428*	p.Q779*	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		21	2469	+			779					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Nonsense_Mutation	SNP	ENST00000262982.2	37	c.2335C>T	CCDS13412.1	.	.	.	.	.	.	.	.	.	.	C	41	9.093401	0.99062	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-10.4159	19.704	0.96066	0.0:1.0:0.0:0.0	.	.	.	.	X	377;779;562;723	.	ENSP00000262982:Q779X	Q	+	1	0	CSE1L	47140936	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.726000	0.93360	0.650000	0.86243	CAG		0.303	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316		20	56	0	0	0	0.001786	0	20	56		
CSE1L	1434	broad.mit.edu	37	20	47707558	47707558	+	Splice_Site	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr20:47707558G>A	ENST00000262982.2	+	21	2487	c.2364G>A	c.(2362-2364)aaG>aaA	p.K788K	CSE1L_ENST00000542325.1_Splice_Site_p.K571K|CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000396192.3_Splice_Site_p.K732K	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	788					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGTTTATCAAGAGTAAGTAAA	0.308																																						uc002xty.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(2362-2364)AAG>AAA		CSE1 chromosome segregation 1-like protein							41.0	44.0	43.0					20																	47707558		2203	4296	6499	SO:0001630	splice_region_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47707558G>A	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2365+1G>A	20.37:g.47707558G>A						CSE1L_uc010zyg.1_Silent_p.K571K|CSE1L_uc010ghx.2_Silent_p.K732K|CSE1L_uc010ghy.2_Silent_p.K409K|CSE1L_uc010zyh.1_Silent_p.K437K	p.K788K	NM_001316	NP_001307	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		21	2498	+			788					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.2364G>A	CCDS13412.1																																																																																				0.308	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2		NM_001316	Silent	12	45	0	0	0	0.003954	0	12	45		
DSCR3	10311	broad.mit.edu	37	21	38600636	38600636	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr21:38600636G>A	ENST00000309117.6	-	6	783	c.546C>T	c.(544-546)ctC>ctT	p.L182L	DSCR3_ENST00000398998.1_Silent_p.L134L|DSCR3_ENST00000399000.3_5'UTR|DSCR3_ENST00000539844.1_Silent_p.L105L|DSCR3_ENST00000399001.1_Silent_p.L57L|AP001432.14_ENST00000440629.1_lincRNA|DSCR3_ENST00000476950.1_Silent_p.L155L|DSCR3_ENST00000288304.5_Nonsense_Mutation_p.Q140*	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	182						nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						TTGTTGAGTTGAGATGTCCTC	0.507																																						uc002ywf.1		NaN																	0					0						c.(544-546)CTC>CTT		Down syndrome critical region protein 3							75.0	74.0	74.0					21																	38600636		2203	4300	6503	SO:0001819	synonymous_variant	10311				vacuolar transport	nucleus|retromer complex		g.chr21:38600636G>A	D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659	ENST00000309117.6:c.546C>T	21.37:g.38600636G>A						DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Silent_p.L140L|DSCR3_uc010gnl.2_Silent_p.L155L|DSCR3_uc011aeg.1_Silent_p.L105L|DSCR3_uc011aeh.1_Silent_p.L57L	p.L182L	NM_006052	NP_006043	O14972	DSCR3_HUMAN			7	785	-			182					B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	Silent	SNP	ENST00000309117.6	37	c.546C>T	CCDS33553.1	.	.	.	.	.	.	.	.	.	.	G	45	11.346023	0.99549	.	.	ENSG00000157538	ENST00000288304	.	.	.	5.42	2.35	0.29111	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.6216	18.938	0.92594	0.0:0.5485:0.4514:0.0	.	.	.	.	X	140	.	.	Q	-	1	0	DSCR3	37522506	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.134000	0.42102	0.725000	0.32318	0.655000	0.94253	CAA		0.507	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194807.1				28	39	0	0	0	0.001786	0	28	39		
CECR2	27443	broad.mit.edu	37	22	18031822	18031822	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:18031822G>C	ENST00000400585.2	+	18	4330	c.3892G>C	c.(3892-3894)Gat>Cat	p.D1298H	CECR2_ENST00000400573.5_Missense_Mutation_p.D1440H|CECR2_ENST00000262608.8_Missense_Mutation_p.D1441H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1482					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		ACTTCCCCTGGATCAGGTAAG	0.498																																						uc010gqw.1		NaN																	0				ovary(1)|skin(1)	2						c.(4318-4320)GAT>CAT		cat eye syndrome chromosome region, candidate 2							54.0	56.0	55.0					22																	18031822		2005	4167	6172	SO:0001583	missense	27443				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	g.chr22:18031822G>C	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.3892G>C	22.37:g.18031822G>C	ENSP00000383428:p.Asp1298His					CECR2_uc010gqv.1_Missense_Mutation_p.D1298H|CECR2_uc002zml.2_Missense_Mutation_p.D1299H|CECR2_uc002zmo.2_RNA	p.D1440H	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN		Lung(27;0.146)	17	4444	+		all_epithelial(15;0.139)	1482					A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37	c.4318G>C		.	.	.	.	.	.	.	.	.	.	G	12.82	2.051711	0.36181	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.54479	0.71;0.68;0.57	4.93	3.92	0.45320	.	0.000000	0.53938	D	0.000057	T	0.68641	0.3023	M	0.64997	1.995	0.40942	D	0.984471	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.73867	-0.3847	10	0.87932	D	0	-20.9131	13.9115	0.63869	0.0738:0.0:0.9262:0.0	.	1482;1298;1440	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	1298;1440;1441	ENSP00000383428:D1298H;ENSP00000383417:D1440H;ENSP00000262608:D1441H	ENSP00000262608:D1441H	D	+	1	0	CECR2	16411822	1.000000	0.71417	0.999000	0.59377	0.035000	0.12851	4.494000	0.60347	1.449000	0.47699	-0.448000	0.05591	GAT		0.498	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2		NM_031413		24	29	0	0	0	0.003954	0	24	29		
DGCR8	54487	broad.mit.edu	37	22	20073687	20073687	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:20073687C>T	ENST00000351989.3	+	2	630	c.201C>T	c.(199-201)ttC>ttT	p.F67F	DGCR8_ENST00000407755.1_Silent_p.F67F|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Silent_p.F67F|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	67	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGGACCCCTTCAACTTCTACG	0.597																																						uc002zri.2		NaN																	0					0						c.(199-201)TTC>TTT		DiGeorge syndrome critical region gene 8							74.0	76.0	75.0					22																	20073687		2203	4300	6503	SO:0001819	synonymous_variant	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20073687C>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.201C>T	22.37:g.20073687C>T						DGCR8_uc010grz.2_Silent_p.F67F|DGCR8_uc002zrj.2_5'Flank	p.F67F	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	551	+	Colorectal(54;0.0993)		67			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Silent	SNP	ENST00000351989.3	37	c.201C>T	CCDS13773.1																																																																																				0.597	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				50	56	0	0	0	0.00361	0	50	56		
SPECC1L	23384	broad.mit.edu	37	22	24717883	24717883	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:24717883C>T	ENST00000314328.9	+	5	1220	c.935C>T	c.(934-936)tCt>tTt	p.S312F	SPECC1L_ENST00000541492.1_Missense_Mutation_p.S312F|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S312F|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S312F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	312					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						ACTCTGACTTCTTCAGTGGAA	0.478																																						uc002zzw.2		NaN																	0					0						c.(934-936)TCT>TTT		cytospin A							112.0	105.0	107.0					22																	24717883		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24717883C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.935C>T	22.37:g.24717883C>T	ENSP00000325785:p.Ser312Phe					CYTSA_uc002zzv.3_Missense_Mutation_p.S312F|CYTSA_uc011ajq.1_Missense_Mutation_p.S312F	p.S312F	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1242	+			312					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.935C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.048761	0.75846	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.61859	0.07;2.5;0.07;3.06	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	N	0.08118	0	0.80722	D	1	D;D	0.89917	1.0;0.995	D;P	0.75484	0.986;0.88	T	0.68032	-0.5516	10	0.54805	T	0.06	-11.6152	17.9639	0.89094	0.0:1.0:0.0:0.0	.	312;312	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	F	340;312;312;312;312	ENSP00000393363:S312F;ENSP00000405671:S312F;ENSP00000325785:S312F;ENSP00000439633:S312F	ENSP00000325785:S312F	S	+	2	0	SPECC1L	23047883	1.000000	0.71417	0.942000	0.38095	0.976000	0.68499	7.542000	0.82095	2.578000	0.87016	0.313000	0.20887	TCT		0.478	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		45	56	0	0	0	0.00361	0	45	56		
SPECC1L	23384	broad.mit.edu	37	22	24718351	24718351	+	Missense_Mutation	SNP	C	C	T	rs200004718		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:24718351C>T	ENST00000314328.9	+	5	1688	c.1403C>T	c.(1402-1404)tCt>tTt	p.S468F	SPECC1L_ENST00000541492.1_Missense_Mutation_p.S468F|SPECC1L_ENST00000416735.1_Intron|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S468F|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.S468F	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	468					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						TACTTCCGCTCTCTTCTAGAT	0.408																																						uc002zzw.2		NaN																	0					0						c.(1402-1404)TCT>TTT		cytospin A							92.0	97.0	95.0					22																	24718351		2203	4300	6503	SO:0001583	missense	23384				cell cycle|cell division			g.chr22:24718351C>T	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.1403C>T	22.37:g.24718351C>T	ENSP00000325785:p.Ser468Phe					CYTSA_uc002zzv.3_Missense_Mutation_p.S468F|CYTSA_uc011ajq.1_Missense_Mutation_p.S468F	p.S468F	NM_015330	NP_056145	Q69YQ0	CYTSA_HUMAN			5	1710	+			468					B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	ENST00000314328.9	37	c.1403C>T	CCDS33619.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.305077	0.81247	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	5.11	5.11	0.69529	.	0.157939	0.64402	D	0.000016	T	0.24928	0.0605	L	0.36672	1.1	0.80722	D	1	D;P	0.54397	0.966;0.769	P;B	0.56823	0.807;0.332	T	0.00643	-1.1630	10	0.72032	D	0.01	-15.3135	17.8821	0.88843	0.0:1.0:0.0:0.0	.	468;468	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	F	496;468;468;468;468	ENSP00000393363:S468F;ENSP00000405671:S468F;ENSP00000325785:S468F;ENSP00000439633:S468F	ENSP00000325785:S468F	S	+	2	0	SPECC1L	23048351	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.801000	0.69115	2.550000	0.86006	0.591000	0.81541	TCT		0.408	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2		NM_015330		65	70	0	0	0	0.00361	0	65	70		
DEPDC5	9681	broad.mit.edu	37	22	32160960	32160960	+	Splice_Site	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr22:32160960G>A	ENST00000382112.3	+	4	263		c.e4-1		DEPDC5_ENST00000382105.2_Splice_Site|DEPDC5_ENST00000266091.3_Splice_Site|DEPDC5_ENST00000400249.2_Splice_Site|DEPDC5_ENST00000382111.2_Splice_Site|DEPDC5_ENST00000536766.1_Splice_Site|DEPDC5_ENST00000400246.1_Splice_Site|DEPDC5_ENST00000400248.2_Splice_Site|DEPDC5_ENST00000535622.1_Splice_Site|DEPDC5_ENST00000400242.3_Splice_Site	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5						intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTCTGTTTTAGAAACTATCAG	0.363																																						uc003als.2		NaN																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.e5-1		DEP domain containing 5 isoform 1							162.0	150.0	154.0					22																	32160960		1884	4108	5992	SO:0001630	splice_region_variant	9681				intracellular signal transduction			g.chr22:32160960G>A	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.194-1G>A	22.37:g.32160960G>A						DEPDC5_uc011als.1_Splice_Site_p.E65_splice|DEPDC5_uc011alu.1_Splice_Site_p.E65_splice|DEPDC5_uc011alv.1_Splice_Site|DEPDC5_uc003alt.2_Splice_Site_p.E65_splice|DEPDC5_uc003alr.1_Splice_Site_p.E65_splice|DEPDC5_uc011alt.1_Splice_Site_p.E65_splice	p.E65_splice	NM_014662	NP_055477	O75140	DEPD5_HUMAN			5	336	+								A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Splice_Site	SNP	ENST00000382112.3	37	c.194_splice	CCDS46692.1	.	.	.	.	.	.	.	.	.	.	g	17.77	3.470956	0.63625	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0761	0.80969	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPDC5	30490960	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	8.869000	0.92326	2.376000	0.81061	0.585000	0.79938	.		0.363	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1		NM_014662	Intron	6	88	0	0	0	0.001984	0	6	88		
CNTN6	27255	broad.mit.edu	37	3	1424976	1424976	+	Splice_Site	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:1424976G>C	ENST00000446702.2	+	19	3028		c.e19-1		CNTN6_ENST00000350110.2_Splice_Site|CNTN6_ENST00000539053.1_Splice_Site			Q9UQ52	CNTN6_HUMAN	contactin 6						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGGATGGTAGAACCTCAACT	0.428																																						uc003boz.2		NaN																	0				skin(3)|lung(2)|breast(2)|pancreas(1)	8						c.e19-1		contactin 6 precursor							182.0	187.0	186.0					3																	1424976		2203	4300	6503	SO:0001630	splice_region_variant	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1424976G>C	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2402-1G>C	3.37:g.1424976G>C						CNTN6_uc011asj.1_Splice_Site_p.E729_splice|CNTN6_uc003bpa.2_Splice_Site_p.E801_splice	p.E801_splice	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	19	2669	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)						Q2KHM2	Splice_Site	SNP	ENST00000446702.2	37	c.2402_splice	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721030	0.68959	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2696	0.90064	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CNTN6	1399976	1.000000	0.71417	0.999000	0.59377	0.852000	0.48524	6.444000	0.73452	2.765000	0.95021	0.591000	0.81541	.		0.428	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2		NM_014461	Intron	91	135	0	0	0	0.00361	0	91	135		
ROBO2	6092	broad.mit.edu	37	3	77614213	77614213	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:77614213G>A	ENST00000461745.1	+	12	2691	c.1791G>A	c.(1789-1791)gcG>gcA	p.A597A	ROBO2_ENST00000487694.3_Silent_p.A613A|ROBO2_ENST00000332191.8_Silent_p.A597A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	597	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGTCAGAGCGATCAACCCCC	0.498																																						uc003dpy.3		NaN																	0				lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1)	11						c.(1789-1791)GCG>GCA		roundabout, axon guidance receptor, homolog 2							130.0	128.0	129.0					3																	77614213		1989	4163	6152	SO:0001819	synonymous_variant	6092				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	g.chr3:77614213G>A	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1791G>A	3.37:g.77614213G>A						ROBO2_uc003dpz.2_Silent_p.A601A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.A601A	p.A597A	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN		Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)	12	2434	+			597			Extracellular (Potential).|Fibronectin type-III 1.		O43608|Q19AB4|Q19AB5	Silent	SNP	ENST00000461745.1	37	c.1791G>A	CCDS43109.1																																																																																				0.498	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246		57	70	0	0	0	0.00361	0	57	70		
RAB7A	7879	broad.mit.edu	37	3	128525358	128525358	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:128525358C>T	ENST00000265062.3	+	4	570	c.324C>T	c.(322-324)atC>atT	p.I108I	RAB7A_ENST00000482525.1_Intron|RAB7A_ENST00000485280.1_Intron	NM_004637.5	NP_004628.4	P51149	RAB7A_HUMAN	RAB7A, member RAS oncogene family	108				I -> V (in Ref. 2; AAA86640). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|bone resorption (GO:0045453)|cell death (GO:0008219)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|epidermal growth factor catabolic process (GO:0007174)|GTP catabolic process (GO:0006184)|phagosome acidification (GO:0090383)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein targeting to lysosome (GO:0006622)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	alveolar lamellar body (GO:0097208)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		AGTTTCTCATCCAGGCCAGTC	0.458																																						uc003eks.1		NaN																	0					0						c.(322-324)ATC>ATT		RAB7, member RAS oncogene family							110.0	107.0	108.0					3																	128525358		2203	4300	6503	SO:0001819	synonymous_variant	7879				endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding	g.chr3:128525358C>T	X93499	CCDS3052.1	3q21	2014-09-17	2007-01-15	2007-01-15	ENSG00000075785	ENSG00000075785		"""RAB, member RAS oncogene"""	9788	protein-coding gene	gene with protein product		602298	"""RAB7, member RAS oncogene family"""	RAB7		9126495, 9428630	Standard	NM_004637		Approved		uc003eks.1	P51149	OTTHUMG00000159812	ENST00000265062.3:c.324C>T	3.37:g.128525358C>T						RAB7A_uc010hsv.1_Intron|RAB7A_uc003ekt.2_Silent_p.I84I	p.I108I	NM_004637	NP_004628	P51149	RAB7A_HUMAN		GBM - Glioblastoma multiforme(114;0.231)	4	556	+			108	I -> V (in Ref. 2; AAA86640).				A8K3V6|Q9NWJ0|Q9UPB0	Silent	SNP	ENST00000265062.3	37	c.324C>T	CCDS3052.1																																																																																				0.458	RAB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357479.1				37	42	0	0	0	0.005524	0	37	42		
IGSF10	285313	broad.mit.edu	37	3	151166216	151166216	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:151166216C>G	ENST00000282466.3	-	4	1552	c.1553G>C	c.(1552-1554)aGa>aCa	p.R518T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	518	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAGGGGCTCTCACTTTACT	0.498																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1552-1554)AGA>ACA		immunoglobulin superfamily, member 10 precursor							164.0	164.0	164.0					3																	151166216		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166216C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1553G>C	3.37:g.151166216C>G	ENSP00000282466:p.Arg518Thr						p.R518T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1553	-			518			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1553G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833206	0.71258	.	.	ENSG00000152580	ENST00000282466	T	0.67171	-0.25	4.76	3.88	0.44766	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126939	0.35179	N	0.003396	T	0.68559	0.3014	L	0.31578	0.945	0.42513	D	0.992978	D	0.89917	1.0	D	0.80764	0.994	T	0.63152	-0.6701	10	0.18276	T	0.48	.	12.3261	0.55011	0.0:0.918:0.0:0.082	.	518	Q6WRI0	IGS10_HUMAN	T	518	ENSP00000282466:R518T	ENSP00000282466:R518T	R	-	2	0	IGSF10	152648906	0.981000	0.34729	1.000000	0.80357	0.989000	0.77384	2.516000	0.45520	2.203000	0.70933	0.555000	0.69702	AGA		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		103	108	0	0	0	0.00361	0	103	108		
IGSF10	285313	broad.mit.edu	37	3	151166508	151166508	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr3:151166508C>G	ENST00000282466.3	-	4	1260	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	421					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTCTGAGATCTGCCTCTATG	0.438																																						uc011bod.1		NaN																	0				skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1261-1263)GAT>CAT		immunoglobulin superfamily, member 10 precursor							109.0	101.0	104.0					3																	151166508		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166508C>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1261G>C	3.37:g.151166508C>G	ENSP00000282466:p.Asp421His						p.D421H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1261	-			421					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1261G>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900288	0.33535	.	.	ENSG00000152580	ENST00000282466	T	0.68025	-0.3	5.08	3.24	0.37175	.	0.471490	0.17511	N	0.171627	T	0.51143	0.1657	L	0.29908	0.895	0.09310	N	1	B	0.21452	0.056	B	0.15484	0.013	T	0.37056	-0.9722	10	0.35671	T	0.21	.	9.283	0.37740	0.0:0.6486:0.2757:0.0756	.	421	Q6WRI0	IGS10_HUMAN	H	421	ENSP00000282466:D421H	ENSP00000282466:D421H	D	-	1	0	IGSF10	152649198	0.161000	0.22892	0.006000	0.13384	0.433000	0.31745	2.457000	0.45005	0.521000	0.28445	0.555000	0.69702	GAT		0.438	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1		NM_178822		37	35	0	0	0	0.004289	0	37	35		
FGFR3	2261	broad.mit.edu	37	4	1803568	1803568	+	Missense_Mutation	SNP	C	C	G	rs121913483		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	WGS			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:1803568C>G	ENST00000260795.2	+	6	848	c.746C>G	c.(745-747)tCc>tGc	p.S249C	FGFR3_ENST00000412135.2_Missense_Mutation_p.S249C|FGFR3_ENST00000352904.1_Missense_Mutation_p.S249C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000340107.4_Missense_Mutation_p.S249C|FGFR3_ENST00000440486.2_Missense_Mutation_p.S249C|FGFR3_ENST00000481110.2_Missense_Mutation_p.S249C			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	249			S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). {ECO:0000269|PubMed:10360402, ECO:0000269|PubMed:10471491, ECO:0000269|PubMed:15772091, ECO:0000269|PubMed:8589699, ECO:0000269|PubMed:8845844}.		alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.S249C(1204)|p.R248_S249del(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACAGAGCGCTCCCCGCACCGG	0.736		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	Mis|T	fibroblast growth factor receptor 3	yes	Hypochondroplasia|Thanatophoric dysplasia	"""L, E"""	IGH@|ETV6		bladder|MM|T-cell lymphoma		1205	Substitution - Missense(1204)|Deletion - In frame(1)	p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1)	urinary_tract(1168)|skin(27)|cervix(5)|lung(4)|upper_aerodigestive_tract(1)	urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600	GRCh37	CM950470	FGFR3	M	rs121913483	c.(745-747)TCC>TGC		fibroblast growth factor receptor 3 isoform 1	Palifermin(DB00039)						13.0	16.0	15.0					4																	1803568		2180	4267	6447	SO:0001583	missense	2261	Muenke_syndrome|Saethre-Chotzen_syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1803568C>G	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.746C>G	4.37:g.1803568C>G	ENSP00000260795:p.Ser249Cys					FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C	p.S249C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		7	1002	+		Breast(71;0.212)|all_epithelial(65;0.241)	249		S -> C (in KERSEB, bladder cancer, cervical cancer and TD1).	Extracellular (Potential).		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Missense_Mutation	SNP	ENST00000260795.2	37	c.746C>G	CCDS3353.1	.	.	.	.	.	.	.	.	.	.	c	18.75	3.690127	0.68271	.	.	ENSG00000068078	ENST00000481110;ENST00000340107;ENST00000440486;ENST00000412135;ENST00000260795;ENST00000352904;ENST00000507588	D;T;T;T;T;T;T	0.82081	-1.57;-1.35;-1.33;-1.33;-1.33;-1.33;-1.32	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	M	0.92412	3.305	0.30597	A	0.239052	D;D;D;D;D;D	0.89917	0.998;0.997;1.0;1.0;1.0;1.0	P;D;D;D;D;D	0.80764	0.906;0.978;0.983;0.994;0.968;0.993	D	0.94822	0.7988	9	0.72032	D	0.01	.	16.2883	0.82736	0.0:1.0:0.0:0.0	.	212;249;249;249;249;249	Q8NI15;P22607-2;P22607-4;P22607-3;P22607;F8W9L4	.;.;.;.;FGFR3_HUMAN;.	C	249;249;249;249;249;249;69	ENSP00000420533:S249C;ENSP00000339824:S249C;ENSP00000414914:S249C;ENSP00000412903:S249C;ENSP00000260795:S249C;ENSP00000231803:S249C;ENSP00000427289:S69C	ENSP00000260795:S249C	S	+	2	0	FGFR3	1773366	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	7.424000	0.80242	1.903000	0.55091	0.436000	0.28706	TCC		0.736	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2		NM_000142		16	19	0	0	0	0.001523	0	16	19		
RGS12	6002	broad.mit.edu	37	4	3416499	3416499	+	Silent	SNP	C	C	T	rs575363563		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:3416499C>T	ENST00000344733.5	+	6	3115	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	RGS12_ENST00000338806.4_Silent_p.F89F|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Silent_p.F737F|RGS12_ENST00000538395.1_Silent_p.F79F|RGS12_ENST00000306648.7_Silent_p.F135F|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.F737F	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	737	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGAAAGAATTCAGTGAAGAAA	0.413																																						uc003ggw.2		NaN																	0				skin(1)	1						c.(2209-2211)TTC>TTT		regulator of G-protein signalling 12 isoform 1							99.0	113.0	108.0					4																	3416499		2203	4300	6503	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3416499C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2211C>T	4.37:g.3416499C>T						RGS12_uc003ggu.2_Silent_p.F737F|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Silent_p.F737F|RGS12_uc003ggy.1_Silent_p.F135F|RGS12_uc010ict.1_Silent_p.F89F|RGS12_uc003ggz.2_Silent_p.F89F|RGS12_uc010icu.1_5'UTR|RGS12_uc011bvs.1_Silent_p.F79F|RGS12_uc003gha.2_Silent_p.F79F|RGS12_uc010icv.2_5'UTR|RGS12_uc003ghb.2_5'UTR	p.F737F	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	6	3115	+			737			RGS.		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.2211C>T	CCDS3366.1																																																																																				0.413	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1		NM_002926		48	169	0	0	0	0.00361	0	48	169		
WDR1	9948	broad.mit.edu	37	4	10100690	10100690	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:10100690G>A	ENST00000499869.2	-	4	496	c.303C>T	c.(301-303)ttC>ttT	p.F101F	WDR1_ENST00000382451.2_Intron|WDR1_ENST00000382452.2_Silent_p.F101F|WDR1_ENST00000502702.1_Intron			O75083	WDR1_HUMAN	WD repeat domain 1	101					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		TCTTCCCAGCGAAAGGCTGGT	0.577																																						uc003gmf.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(301-303)TTC>TTT		WD repeat-containing protein 1 isoform 1							124.0	129.0	127.0					4																	10100690		2041	4191	6232	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10100690G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.303C>T	4.37:g.10100690G>A						WDR1_uc003gmg.2_Intron	p.F101F	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	4	586	-			101			WD 2.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.303C>T	CCDS54740.1																																																																																				0.577	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				74	75	0	0	0	0.00361	0	74	75		
HS3ST1	9957	broad.mit.edu	37	4	11401132	11401132	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:11401132C>T	ENST00000002596.5	-	2	1672	c.498G>A	c.(496-498)caG>caA	p.Q166Q		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	166					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCTTGTGCTTCTGCATGTGGT	0.587																																						uc003gmq.2		NaN																	0				skin(1)	1						c.(496-498)CAG>CAA		heparan sulfate D-glucosaminyl							90.0	82.0	85.0					4																	11401132		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401132C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.498G>A	4.37:g.11401132C>T							p.Q166Q	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	821	-			166					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.498G>A	CCDS3408.1																																																																																				0.587	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3		NM_005114		43	53	0	0	0	0.00361	0	43	53		
SHROOM3	57619	broad.mit.edu	37	4	77675497	77675497	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:77675497G>C	ENST00000296043.6	+	7	4814	c.3861G>C	c.(3859-3861)gaG>gaC	p.E1287D	RP11-359D14.2_ENST00000452412.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1287					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCAAGAAGAGATGCTGCCGC	0.547																																						uc011cbx.1		NaN																	0				skin(2)|ovary(1)	3						c.(3859-3861)GAG>GAC		shroom family member 3 protein							162.0	156.0	158.0					4																	77675497		2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77675497G>C	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.3861G>C	4.37:g.77675497G>C	ENSP00000296043:p.Glu1287Asp					SHROOM3_uc003hkg.2_Missense_Mutation_p.E1065D	p.E1287D	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		7	4814	+			1287					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.3861G>C	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681854	0.29872	.	.	ENSG00000138771	ENST00000296043	T	0.22945	1.93	5.07	1.23	0.21249	.	1.153450	0.06412	N	0.720784	T	0.13586	0.0329	N	0.14661	0.345	0.09310	N	1	B	0.17667	0.023	B	0.14578	0.011	T	0.31110	-0.9955	10	0.30854	T	0.27	-16.2527	2.8	0.05412	0.2134:0.1298:0.5341:0.1227	.	1287	Q8TF72	SHRM3_HUMAN	D	1287	ENSP00000296043:E1287D	ENSP00000296043:E1287D	E	+	3	2	SHROOM3	77894521	0.029000	0.19370	0.206000	0.23566	0.007000	0.05969	0.044000	0.13992	0.284000	0.22305	0.585000	0.79938	GAG		0.547	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2		NM_020859		81	113	0	0	0	0.00361	0	81	113		
TIGD2	166815	broad.mit.edu	37	4	90034853	90034853	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:90034853C>G	ENST00000317005.2	+	1	886	c.728C>G	c.(727-729)tCa>tGa	p.S243*	RP11-84C13.1_ENST00000603357.1_lincRNA|FAM13A_ENST00000502459.1_5'Flank	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	243	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		ACTGACCTTTCAAACCTTCCT	0.423																																						uc003hsk.2		NaN																	0					0						c.(727-729)TCA>TGA		tigger transposable element derived 2							67.0	66.0	67.0					4																	90034853		2203	4300	6503	SO:0001587	stop_gained	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034853C>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.728C>G	4.37:g.90034853C>G	ENSP00000317170:p.Ser243*					FAM13A_uc003hsh.1_5'Flank	p.S243*	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	886	+		Hepatocellular(203;0.114)	243			DDE.			Nonsense_Mutation	SNP	ENST00000317005.2	37	c.728C>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	c	32	5.142140	0.94560	.	.	ENSG00000180346	ENST00000317005	.	.	.	4.01	3.14	0.36123	.	0.000000	0.35407	U	0.003236	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-4.3933	7.8242	0.29305	0.0:0.8796:0.0:0.1204	.	.	.	.	X	243	.	ENSP00000317170:S243X	S	+	2	0	TIGD2	90253876	0.005000	0.15991	0.999000	0.59377	0.955000	0.61496	1.346000	0.33964	2.075000	0.62263	0.552000	0.68991	TCA		0.423	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2		NM_145715		30	32	0	0	0	0.008361	0	30	32		
MTTP	4547	broad.mit.edu	37	4	100510816	100510816	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:100510816C>G	ENST00000265517.5	+	4	613	c.410C>G	c.(409-411)tCa>tGa	p.S137*	MTTP_ENST00000511045.1_Nonsense_Mutation_p.S164*|MTTP_ENST00000457717.1_Nonsense_Mutation_p.S137*			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	137	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	GAGTTCTACTCATATCAAAAT	0.418																																						uc003hvc.3		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(409-411)TCA>TGA		microsomal triglyceride transfer protein large	Hesperetin(DB01094)						88.0	90.0	90.0					4																	100510816		2203	4300	6503	SO:0001587	stop_gained	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100510816C>G		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.410C>G	4.37:g.100510816C>G	ENSP00000265517:p.Ser137*					MTTP_uc011cej.1_Nonsense_Mutation_p.S164*	p.S137*	NM_000253	NP_000244	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	5	666	+			137			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Nonsense_Mutation	SNP	ENST00000265517.5	37	c.410C>G	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204231	0.95033	.	.	ENSG00000138823	ENST00000506883;ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	.	.	.	5.5	5.5	0.81552	.	0.057371	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-33.9451	19.386	0.94556	0.0:1.0:0.0:0.0	.	.	.	.	X	147;164;137;137;137	.	ENSP00000265517:S137X	S	+	2	0	MTTP	100729839	1.000000	0.71417	0.963000	0.40424	0.245000	0.25701	5.843000	0.69424	2.586000	0.87340	0.655000	0.94253	TCA		0.418	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3				16	18	0	0	0	0.007413	0	16	18		
TRPC3	7222	broad.mit.edu	37	4	122831316	122831316	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:122831316G>A	ENST00000379645.3	-	6	1858	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	TRPC3_ENST00000264811.5_Silent_p.F522F|TRPC3_ENST00000513531.1_Silent_p.F467F	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	510					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TACCATAAGTGAAATACTGTA	0.438																																						uc003ieg.2		NaN																	0				ovary(2)	2						c.(1783-1785)TTC>TTT		transient receptor potential cation channel,							120.0	107.0	112.0					4																	122831316		2203	4300	6503	SO:0001819	synonymous_variant	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122831316G>A	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1785C>T	4.37:g.122831316G>A						TRPC3_uc010inr.2_Silent_p.F467F|TRPC3_uc003ief.2_Silent_p.F522F|TRPC3_uc011cgl.1_Silent_p.F259F	p.F595F	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN			6	1859	-			510			Cytoplasmic (Potential).		A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	ENST00000379645.3	37	c.1785C>T	CCDS47130.1																																																																																				0.438	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1		NM_003305		31	56	0	0	0	0.002096	0	31	56		
BBS12	166379	broad.mit.edu	37	4	123664339	123664339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:123664339G>A	ENST00000314218.3	+	2	1485	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q	BBS12_ENST00000542236.1_Missense_Mutation_p.R431Q	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	431					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACAGTAAGCGGTTGGTAATC	0.443									Bardet-Biedl syndrome																													uc003ieu.2		NaN																	0				ovary(2)	2						c.(1291-1293)CGG>CAG		Bardet-Biedl syndrome 12							76.0	80.0	79.0					4																	123664339		2203	4300	6503	SO:0001583	missense	166379	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123664339G>A	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1292G>A	4.37:g.123664339G>A	ENSP00000319062:p.Arg431Gln						p.R431Q	NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN			2	1485	+			431					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	ENST00000314218.3	37	c.1292G>A	CCDS3728.1	.	.	.	.	.	.	.	.	.	.	G	6.607	0.480413	0.12581	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.78246	-1.16;-1.16	5.58	-0.877	0.10621	.	0.618321	0.15399	N	0.264411	T	0.59238	0.2179	N	0.25144	0.715	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47787	-0.9090	10	0.48119	T	0.1	-50.7105	5.9207	0.19080	0.3919:0.0:0.4179:0.1901	.	431	Q6ZW61	BBS12_HUMAN	Q	431	ENSP00000319062:R431Q;ENSP00000438273:R431Q	ENSP00000319062:R431Q	R	+	2	0	BBS12	123883789	0.104000	0.21937	0.002000	0.10522	0.010000	0.07245	1.305000	0.33493	-0.137000	0.11455	-0.813000	0.03139	CGG		0.443	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1		NM_152618		50	44	0	0	0	0.00361	0	50	44		
GAB1	2549	broad.mit.edu	37	4	144361407	144361407	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:144361407G>A	ENST00000262994.4	+	6	1759	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	GAB1_ENST00000505913.1_Missense_Mutation_p.G383E|GAB1_ENST00000262995.4_Missense_Mutation_p.G486E	NM_002039.3	NP_002030.2	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	486	Pro-rich.				activation of JUN kinase activity (GO:0007257)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-6-mediated signaling pathway (GO:0070102)|labyrinthine layer development (GO:0060711)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|regulation of cell migration (GO:0030334)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					TCCTCATTTGGAATGCAAGTT	0.483																																						uc003ije.2		NaN																	0				breast(2)|lung(1)|skin(1)	4						c.(1456-1458)GGA>GAA		GRB2-associated binding protein 1 isoform b							143.0	135.0	138.0					4																	144361407		2203	4300	6503	SO:0001583	missense	2549				cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr4:144361407G>A	U43885	CCDS3759.1, CCDS3760.1	4q31.1	2013-01-10			ENSG00000109458	ENSG00000109458		"""Pleckstrin homology (PH) domain containing"""	4066	protein-coding gene	gene with protein product		604439				8596638	Standard	NM_207123		Approved		uc003ijd.3	Q13480	OTTHUMG00000161432	ENST00000262994.4:c.1457G>A	4.37:g.144361407G>A	ENSP00000262994:p.Gly486Glu					GAB1_uc003ijd.2_Missense_Mutation_p.G486E|GAB1_uc011chq.1_Missense_Mutation_p.G383E	p.G486E	NM_002039	NP_002030	Q13480	GAB1_HUMAN			6	1816	+	all_hematologic(180;0.158)		486			Pro-rich.		A8K152|Q4W5G2|Q6P1W2	Missense_Mutation	SNP	ENST00000262994.4	37	c.1457G>A	CCDS3759.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737758	0.89573	.	.	ENSG00000109458	ENST00000262995;ENST00000262994;ENST00000505913	T;T;T	0.33865	2.03;1.94;1.39	5.62	5.62	0.85841	.	0.046804	0.85682	D	0.000000	T	0.64571	0.2610	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66268	-0.5966	10	0.72032	D	0.01	-2.3893	20.024	0.97514	0.0:0.0:1.0:0.0	.	486;486	Q13480;Q13480-2	GAB1_HUMAN;.	E	486;486;383	ENSP00000262995:G486E;ENSP00000262994:G486E;ENSP00000424554:G383E	ENSP00000262994:G486E	G	+	2	0	GAB1	144580857	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.378000	0.97191	2.809000	0.96659	0.655000	0.94253	GGA		0.483	GAB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364998.1		NM_002039		47	35	0	0	0	0.003214	0	47	35		
ZNF827	152485	broad.mit.edu	37	4	146686180	146686180	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:146686180C>G	ENST00000508784.1	-	13	3417	c.3190G>C	c.(3190-3192)Gag>Cag	p.E1064Q	ZNF827_ENST00000513320.1_Missense_Mutation_p.E714Q|ZNF827_ENST00000379448.4_Missense_Mutation_p.E1064Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	1064					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTCTTATGCTCCAGCAGCTGT	0.483																																						uc003ikn.2		NaN																	0					0						c.(3190-3192)GAG>CAG		zinc finger protein 827							128.0	126.0	127.0					4																	146686180		2203	4300	6503	SO:0001583	missense	152485				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:146686180C>G	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.3190G>C	4.37:g.146686180C>G	ENSP00000421863:p.Glu1064Gln					ZNF827_uc003ikm.2_Missense_Mutation_p.E1064Q|ZNF827_uc010iox.2_Missense_Mutation_p.E714Q|ZNF827_uc003ikl.2_Missense_Mutation_p.E149Q	p.E1064Q	NM_178835	NP_849157	Q17R98	ZN827_HUMAN			13	3238	-	all_hematologic(180;0.151)		1064			C2H2-type 9.		B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	37	c.3190G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.603220|4.603220	0.87157|0.87157	.|.	.|.	ENSG00000151612|ENSG00000151612	ENST00000508784;ENST00000513320;ENST00000379448;ENST00000281318;ENST00000503462;ENST00000440280|ENST00000511659	T;T;T;T|.	0.60040|.	0.22;0.22;0.22;3.2|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47451|0.47451	0.1446|0.1446	N|N	0.11284|0.11284	0.12|0.12	0.53688|0.53688	D|D	0.999979|0.999979	D;D;D;D|.	0.67145|.	0.996;0.993;0.996;0.993|.	D;D;D;D|.	0.78314|.	0.991;0.979;0.991;0.979|.	T|T	0.43956|0.43956	-0.9359|-0.9359	10|5	0.22706|.	T|.	0.39|.	-18.9282|-18.9282	18.3139|18.3139	0.90210|0.90210	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	714;1064;1064;714|.	G5E9Z1;Q17R98;Q17R98-2;E7ESI8|.	.;ZN827_HUMAN;.;.|.	Q|C	1064;714;1064;1063;10;714|164	ENSP00000421863:E1064Q;ENSP00000423130:E714Q;ENSP00000368761:E1064Q;ENSP00000424541:E10Q|.	ENSP00000281318:E1063Q|.	E|W	-|-	1|3	0|0	ZNF827|ZNF827	146905630|146905630	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.445000|7.445000	0.80570|0.80570	2.368000|2.368000	0.80403|0.80403	0.655000|0.655000	0.94253|0.94253	GAG|TGG		0.483	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2		NM_178835		3	162	0	0	0	0.004672	0	3	162		
DDX60	55601	broad.mit.edu	37	4	169196559	169196559	+	Silent	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:169196559C>T	ENST00000393743.3	-	16	2532	c.2241G>A	c.(2239-2241)ttG>ttA	p.L747L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	747					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCTCGTATCAAATAATGGC	0.403																																						uc003irp.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2239-2241)TTG>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							98.0	98.0	98.0					4																	169196559		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169196559C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2241G>A	4.37:g.169196559C>T							p.L747L	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	16	2533	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	747					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.2241G>A	CCDS34097.1																																																																																				0.403	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1		NM_017631		30	26	0	0	0	0.002096	0	30	26		
GALNT7	51809	broad.mit.edu	37	4	174169341	174169341	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:174169341C>G	ENST00000265000.4	+	2	420	c.337C>G	c.(337-339)Ctc>Gtc	p.L113V	GALNT7_ENST00000512285.1_Missense_Mutation_p.L113V	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	113					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GAGGCAGTATCTCACATTTAA	0.463																																						uc003isz.3		NaN																	0				central_nervous_system(1)	1						c.(337-339)CTC>GTC		polypeptide N-acetylgalactosaminyltransferase 7							90.0	81.0	84.0					4																	174169341		2203	4300	6503	SO:0001583	missense	51809				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:174169341C>G	AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.337C>G	4.37:g.174169341C>G	ENSP00000265000:p.Leu113Val						p.L113V	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)	2	420	+		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	113			Lumenal (Potential).		B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	c.337C>G	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	8.483	0.860289	0.17178	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.53640	0.61;1.65	5.62	5.62	0.85841	.	0.476972	0.21755	N	0.069611	T	0.44307	0.1287	L	0.42245	1.32	0.43863	D	0.99646	B	0.15141	0.012	B	0.14023	0.01	T	0.22103	-1.0226	10	0.25106	T	0.35	.	19.661	0.95871	0.0:1.0:0.0:0.0	.	113	Q86SF2	GALT7_HUMAN	V	113	ENSP00000265000:L113V;ENSP00000427050:L113V	ENSP00000265000:L113V	L	+	1	0	GALNT7	174405916	1.000000	0.71417	1.000000	0.80357	0.174000	0.22865	3.104000	0.50306	2.659000	0.90383	0.655000	0.94253	CTC		0.463	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2		NM_017423		32	40	0	0	0	0.001786	0	32	40		
ASB5	140458	broad.mit.edu	37	4	177143510	177143510	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:177143510C>G	ENST00000296525.3	-	3	451	c.338G>C	c.(337-339)gGa>gCa	p.G113A	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.G60A	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	113					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		CACGTGATCTCCAAGGCAGGC	0.423																																						uc003iuq.1		NaN																	0				skin(2)	2						c.(337-339)GGA>GCA		ankyrin repeat and SOCS box-containing protein							109.0	107.0	108.0					4																	177143510		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177143510C>G	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.338G>C	4.37:g.177143510C>G	ENSP00000296525:p.Gly113Ala					ASB5_uc003iup.1_Missense_Mutation_p.G60A	p.G113A	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	3	354	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	113			ANK 2.		Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.338G>C	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501184	0.64298	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.62105	0.05;0.05	5.44	5.44	0.79542	Ankyrin repeat-containing domain (4);	0.241261	0.43416	D	0.000576	T	0.54822	0.1882	L	0.35288	1.05	0.80722	D	1	P;P	0.49253	0.852;0.921	B;B	0.44278	0.256;0.445	T	0.49234	-0.8961	10	0.16420	T	0.52	-22.4998	17.8118	0.88619	0.0:1.0:0.0:0.0	.	113;60	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	A	113;60	ENSP00000296525:G113A;ENSP00000422877:G60A	ENSP00000296525:G113A	G	-	2	0	ASB5	177380504	1.000000	0.71417	0.816000	0.32577	0.846000	0.48090	5.427000	0.66483	2.708000	0.92522	0.585000	0.79938	GGA		0.423	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1				30	31	0	0	0	0.001786	0	30	31		
FAT1	2195	broad.mit.edu	37	4	187518864	187518864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr4:187518864G>A	ENST00000441802.2	-	24	12549	c.12340C>T	c.(12340-12342)Cag>Tag	p.Q4114*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4114	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAATCACACTGACAAACGGCG	0.428										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(12340-12342)CAG>TAG		FAT tumor suppressor 1 precursor							71.0	64.0	66.0					4																	187518864		1907	4137	6044	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518864G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12340C>T	4.37:g.187518864G>A	ENSP00000406229:p.Gln4114*	HNSCC(5;0.00058)				FAT1_uc010isn.2_5'Flank|FAT1_uc003ize.2_5'Flank	p.Q4114*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			24	12528	-			4114			Extracellular (Potential).|EGF-like 4.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.12340C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	54	22.741338	0.99950	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000507105	.	.	.	5.84	5.84	0.93424	.	0.053859	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	14.5355	0.67958	0.0:0.2588:0.7412:0.0	.	.	.	.	X	4114;4116;46	.	ENSP00000260147:Q4116X	Q	-	1	0	FAT1	187755858	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.571000	0.74000	2.779000	0.95612	0.655000	0.94253	CAG		0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		23	29	0	0	0	0.003954	0	23	29		
RASGRF2	5924	broad.mit.edu	37	5	80422929	80422929	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:80422929C>T	ENST00000265080.4	+	17	2700	c.2633C>T	c.(2632-2634)cCg>cTg	p.P878L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	878					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TCTGTTTCACCGGCTTCTGCT	0.448																																						uc003kha.1		NaN																	0				breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2632-2634)CCG>CTG		Ras protein-specific guanine							61.0	62.0	62.0					5																	80422929		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80422929C>T	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2633C>T	5.37:g.80422929C>T	ENSP00000265080:p.Pro878Leu					RASGRF2_uc011ctn.1_RNA	p.P878L	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	17	2633	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	878					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2633C>T	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898971	0.72754	.	.	ENSG00000113319	ENST00000265080	T	0.75154	-0.91	5.92	5.06	0.68205	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (1);	0.092108	0.85682	D	0.000000	T	0.80899	0.4712	M	0.65975	2.015	0.58432	D	0.999999	D	0.71674	0.998	P	0.56216	0.794	T	0.82703	-0.0326	10	0.62326	D	0.03	.	13.0454	0.58922	0.0:0.9252:0.0:0.0748	.	878	O14827	RGRF2_HUMAN	L	878	ENSP00000265080:P878L	ENSP00000265080:P878L	P	+	2	0	RASGRF2	80458685	1.000000	0.71417	0.969000	0.41365	0.716000	0.41182	5.319000	0.65835	1.515000	0.48885	-0.142000	0.14014	CCG		0.448	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909		25	41	0	0	0	0.003954	0	25	41		
GDF9	2661	broad.mit.edu	37	5	132200111	132200111	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:132200111C>T	ENST00000378673.2	-	2	981	c.115G>A	c.(115-117)Gag>Aag	p.E39K	GDF9_ENST00000296875.2_Missense_Mutation_p.E39K|UQCRQ_ENST00000378667.1_5'Flank|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_Intron			O60383	GDF9_HUMAN	growth differentiation factor 9	39					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTCCAACTCAGCACTAGCA	0.502																																						uc003kxz.1		NaN																	0				skin(1)	1						c.(115-117)GAG>AAG		growth differentiation factor 9 precursor							91.0	96.0	94.0					5																	132200111		2203	4300	6503	SO:0001583	missense	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132200111C>T		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.115G>A	5.37:g.132200111C>T	ENSP00000367942:p.Glu39Lys					GDF9_uc011cxj.1_Intron|UQCRQ_uc003kya.1_5'Flank	p.E39K	NM_005260	NP_005251	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	367	-		all_cancers(142;0.105)|Breast(839;0.198)	39					Q4VAW5	Missense_Mutation	SNP	ENST00000378673.2	37	c.115G>A	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	8.892	0.954316	0.18431	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.59083	0.29;0.29	6.02	3.28	0.37604	.	0.862540	0.10520	N	0.665076	T	0.55194	0.1905	M	0.76838	2.35	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.47381	-0.9122	10	0.28530	T	0.3	.	6.2417	0.20795	0.0:0.6465:0.1362:0.2173	.	39	O60383	GDF9_HUMAN	K	39	ENSP00000367942:E39K;ENSP00000296875:E39K	ENSP00000296875:E39K	E	-	1	0	GDF9	132228010	0.000000	0.05858	0.001000	0.08648	0.597000	0.36814	0.064000	0.14437	0.429000	0.26202	0.655000	0.94253	GAG		0.502	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2		NM_005260		56	61	0	0	0	0.00361	0	56	61		
PCDHB14	56122	broad.mit.edu	37	5	140604577	140604577	+	Silent	SNP	C	C	A	rs142260227		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140604577C>A	ENST00000239449.4	+	1	1500	c.1500C>A	c.(1498-1500)ctC>ctA	p.L500L	PCDHB14_ENST00000515856.2_Silent_p.L347L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	500	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCTTGG	0.652																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2		NaN																	0				ovary(1)	1						c.(1498-1500)CTC>CTA		protocadherin beta 14 precursor							96.0	103.0	100.0					5																	140604577		2203	4300	6503	SO:0001819	synonymous_variant	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140604577C>A	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.1500C>A	5.37:g.140604577C>A						PCDHB14_uc011dal.1_Silent_p.L347L	p.L500L	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1500	+			500			Extracellular (Potential).|Cadherin 5.		B4DPE2|Q4FZA4|Q4KN11	Silent	SNP	ENST00000239449.4	37	c.1500C>A	CCDS4256.1																																																																																				0.652	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2		NM_018934		93	91	1	0	3.06722e-38	0.00361	3.7285e-38	93	91		
PCDHGA4	56111	broad.mit.edu	37	5	140734986	140734986	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140734986G>T	ENST00000571252.1	+	1	219	c.219G>T	c.(217-219)caG>caT	p.Q73H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	73	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGACGCAGCTTTTCGCCC	0.637																																						uc003ljq.1		NaN																	0					0						c.(217-219)CAG>CAT		protocadherin gamma subfamily A, 4 isoform 1							53.0	63.0	60.0					5																	140734986		2188	4299	6487	SO:0001583	missense	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140734986G>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.219G>T	5.37:g.140734986G>T	ENSP00000458570:p.Gln73His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Missense_Mutation_p.Q73H	p.Q73H	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	219	+			73			Cadherin 1.|Extracellular (Potential).		Q9Y5D3	Missense_Mutation	SNP	ENST00000571252.1	37	c.219G>T	CCDS58979.1																																																																																				0.637	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1		NM_018917		7	115	1	0	0.00198382	0.001984	0.00227581	7	115		
PCDHGB3	56102	broad.mit.edu	37	5	140750327	140750327	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140750327G>A	ENST00000576222.1	+	1	497	c.366G>A	c.(364-366)ctG>ctA	p.L122L	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	122	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACTGTGCTGATCCAGGATA	0.443																																						uc003ljw.1		NaN																	0					0						c.(364-366)CTG>CTA		protocadherin gamma subfamily B, 3 isoform 1							118.0	119.0	119.0					5																	140750327		1901	4121	6022	SO:0001819	synonymous_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140750327G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.366G>A	5.37:g.140750327G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Silent_p.L122L	p.L122L	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	366	+			122			Extracellular (Potential).|Cadherin 1.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.366G>A	CCDS58980.1																																																																																				0.443	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1		NM_018924		127	107	0	0	0	0.00361	0	127	107		
PCDHGB7	56099	broad.mit.edu	37	5	140798486	140798486	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:140798486G>C	ENST00000398594.2	+	1	1060	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	354	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTCTCTGATCAGATTAT	0.463																																						uc003lkn.1		NaN																	0				ovary(2)	2						c.(1060-1062)GAT>CAT		protocadherin gamma subfamily B, 7 isoform 1							66.0	62.0	63.0					5																	140798486		1879	4109	5988	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140798486G>C	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1060G>C	5.37:g.140798486G>C	ENSP00000381594:p.Asp354His					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.D354H|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.D354H	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1205	+			354			Extracellular (Potential).|Cadherin 4.		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1060G>C	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.236862	0.39498	.	.	ENSG00000254122	ENST00000398594	T	0.19806	2.12	5.6	2.4	0.29515	Cadherin (2);Cadherin-like (1);	0.934688	0.08625	U	0.917921	T	0.34395	0.0896	L	0.55481	1.735	0.09310	N	1	P;P	0.52463	0.953;0.812	P;P	0.59761	0.863;0.642	T	0.14811	-1.0459	10	0.87932	D	0	.	5.4541	0.16580	0.5536:0.0:0.4464:0.0	.	354;354	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	H	354	ENSP00000381594:D354H	ENSP00000381594:D354H	D	+	1	0	PCDHGB7	140778670	0.001000	0.12720	0.086000	0.20670	0.608000	0.37181	1.437000	0.34991	0.719000	0.32188	0.561000	0.74099	GAT		0.463	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1		NM_018927		26	26	0	0	0	0.008361	0	26	26		
TENM2	57451	broad.mit.edu	37	5	167553852	167553852	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:167553852G>A	ENST00000518659.1	+	12	2342	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	TENM2_ENST00000520394.1_Missense_Mutation_p.R536H|TENM2_ENST00000403607.2_Missense_Mutation_p.R601H|TENM2_ENST00000519204.1_Missense_Mutation_p.R647H|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000545108.1_Missense_Mutation_p.R768H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	768					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TGTGACCAGCGCGTGTGCCAC	0.602																																						uc010jjd.2		NaN																	0				ovary(6)|central_nervous_system(4)	10						c.(2302-2304)CGC>CAC		odz, odd Oz/ten-m homolog 2							45.0	51.0	49.0					5																	167553852		2039	4169	6208	SO:0001583	missense	57451							g.chr5:167553852G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2303G>A	5.37:g.167553852G>A	ENSP00000429430:p.Arg768His					ODZ2_uc003lzr.3_Missense_Mutation_p.R536H|ODZ2_uc003lzt.3_Missense_Mutation_p.R132H|ODZ2_uc010jje.2_Missense_Mutation_p.R39H|uc003lzs.1_Intron	p.R768H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	12	2303	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.2303G>A		.	.	.	.	.	.	.	.	.	.	G	29.3	4.996700	0.93167	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	T;T;T;T;T	0.03301	3.98;3.98;3.98;3.98;3.98	5.5	5.5	0.81552	Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.13798	0.0334	L	0.41824	1.3	0.47374	D	0.999405	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.977;0.95;0.993	T	0.00466	-1.1722	10	0.72032	D	0.01	.	19.7664	0.96346	0.0:0.0:1.0:0.0	.	768;768;536	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	768;768;647;536;601	ENSP00000429430:R768H;ENSP00000438635:R768H;ENSP00000428964:R647H;ENSP00000427874:R536H;ENSP00000384905:R601H	ENSP00000384905:R601H	R	+	2	0	ODZ2	167486430	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.844000	0.86867	2.735000	0.93741	0.655000	0.94253	CGC		0.602	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1		NM_001122679		14	7	0	0	0	0.003163	0	14	7		
STK10	6793	broad.mit.edu	37	5	171471888	171471888	+	Nonstop_Mutation	SNP	A	A	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:171471888A>C	ENST00000176763.5	-	19	3248	c.2905T>G	c.(2905-2907)Taa>Gaa	p.*969E		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	0					cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGCGGTTGTTAAGAAGCATCC	0.592																																						uc003mbo.1		NaN																	0				ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1)	8						c.(2905-2907)TAA>GAA		serine/threonine kinase 10							69.0	70.0	70.0					5																	171471888		2203	4300	6503	SO:0001578	stop_lost	6793						ATP binding|protein serine/threonine kinase activity	g.chr5:171471888A>C	AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2905T>G	5.37:g.171471888A>C	ENSP00000176763:p.*969Glnext*69						p.*969E	NM_005990	NP_005981	O94804	STK10_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		19	3205	-	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	969					A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Nonstop_Mutation	SNP	ENST00000176763.5	37	c.2905T>G	CCDS34290.1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.687637	0.48097	.	.	ENSG00000072786	ENST00000176763;ENST00000520476;ENST00000545839	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9025	0.52692	1.0:0.0:0.0:0.0	.	.	.	.	E	969;260;969	.	.	X	-	1	0	STK10	171404493	1.000000	0.71417	0.331000	0.25455	0.312000	0.27988	5.053000	0.64269	1.688000	0.51068	0.533000	0.62120	TAA		0.592	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372374.2		NM_005990		47	52	0	0	0	0.00361	0	47	52		
OR2V2	285659	broad.mit.edu	37	5	180582343	180582343	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:180582343C>T	ENST00000328275.1	+	1	401	c.401C>T	c.(400-402)cCc>cTc	p.P134L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCACTATCCCATCCTCATG	0.502																																						uc011dhj.1		NaN																	0		p.P134T(1)		ovary(1)|central_nervous_system(1)	2						c.(400-402)CCC>CTC		olfactory receptor, family 2, subfamily V,							98.0	95.0	96.0					5																	180582343		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582343C>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.401C>T	5.37:g.180582343C>T	ENSP00000332185:p.Pro134Leu						p.P134L	NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	401	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	134			Cytoplasmic (Potential).		Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.401C>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	13.24	2.177087	0.38413	.	.	ENSG00000182613	ENST00000328275	T	0.01126	5.3	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33938	N	0.004414	T	0.02047	0.0064	M	0.64997	1.995	0.30020	N	0.814429	P	0.45348	0.856	B	0.41440	0.357	T	0.18241	-1.0343	10	0.62326	D	0.03	.	12.3661	0.55230	0.0:1.0:0.0:0.0	.	134	Q96R30	OR2V2_HUMAN	L	134	ENSP00000332185:P134L	ENSP00000332185:P134L	P	+	2	0	OR2V2	180514949	0.000000	0.05858	0.864000	0.33941	0.668000	0.39293	-0.615000	0.05597	1.821000	0.53095	0.305000	0.20034	CCC		0.502	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1				56	72	0	0	0	0.00361	0	56	72		
TRIM7	81786	broad.mit.edu	37	5	180625764	180625764	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr5:180625764G>C	ENST00000274773.7	-	5	975	c.914C>G	c.(913-915)tCt>tGt	p.S305C	TRIM7_ENST00000422067.2_Missense_Mutation_p.S97C|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.S97C|TRIM7_ENST00000393319.3_Missense_Mutation_p.S123C|CTC-338M12.6_ENST00000509080.1_RNA|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000361809.3_Missense_Mutation_p.S97C|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000504241.1_5'Flank	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	305						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.S305C(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CTTCATCTCAGAAGAGACTGT	0.527																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(913-915)TCT>TGT		tripartite motif-containing 7 isoform 1							51.0	55.0	54.0					5																	180625764		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180625764G>C	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.914C>G	5.37:g.180625764G>C	ENSP00000274773:p.Ser305Cys					TRIM7_uc003mmv.1_Missense_Mutation_p.S123C|TRIM7_uc003mmw.1_Missense_Mutation_p.S97C|TRIM7_uc003mmx.1_Missense_Mutation_p.S97C|TRIM7_uc003mmy.1_Missense_Mutation_p.S97C	p.S305C	NM_203293	NP_976038	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	5	981	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	305					A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.914C>G	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029058	0.75504	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.05139	3.49;3.49;3.49;3.49;3.49	6.04	6.04	0.98038	.	0.347345	0.24999	N	0.033930	T	0.16769	0.0403	L	0.60455	1.87	0.38413	D	0.945988	D;D	0.65815	0.995;0.969	P;P	0.54270	0.747;0.655	T	0.00071	-1.2131	10	0.54805	T	0.06	.	16.0793	0.80989	0.0:0.0:1.0:0.0	.	305;123	Q9C029;Q9C029-4	TRIM7_HUMAN;.	C	305;97;97;123;97	ENSP00000274773:S305C;ENSP00000376991:S97C;ENSP00000355059:S97C;ENSP00000376994:S123C;ENSP00000391458:S97C	ENSP00000274773:S305C	S	-	2	0	TRIM7	180558370	0.179000	0.23135	1.000000	0.80357	0.990000	0.78478	3.357000	0.52277	2.873000	0.98535	0.561000	0.74099	TCT		0.527	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3		NM_203296		15	22	0	0	0	0.004007	0	15	22		
KIF13A	63971	broad.mit.edu	37	6	17777582	17777582	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:17777582C>T	ENST00000259711.6	-	34	4201	c.4096G>A	c.(4096-4098)Gtc>Atc	p.V1366I	KIF13A_ENST00000378814.5_Missense_Mutation_p.V1353I|KIF13A_ENST00000378843.2_Missense_Mutation_p.V1353I|KIF13A_ENST00000378826.2_Missense_Mutation_p.V1366I|KIF13A_ENST00000378816.5_Missense_Mutation_p.V1366I	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1366					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGACTGTGACGGCCTGTAAA	0.448																																						uc003ncg.3		NaN																	0				large_intestine(2)|ovary(2)	4						c.(4096-4098)GTC>ATC		kinesin family member 13A isoform a							83.0	80.0	81.0					6																	17777582		1885	4116	6001	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17777582C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.4096G>A	6.37:g.17777582C>T	ENSP00000259711:p.Val1366Ile					KIF13A_uc003ncf.2_Missense_Mutation_p.V1353I|KIF13A_uc003nch.3_Missense_Mutation_p.V1366I|KIF13A_uc003nci.3_Missense_Mutation_p.V1353I|KIF13A_uc003nce.1_5'UTR	p.V1366I	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		34	4201	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1366					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.4096G>A	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482443	0.63962	.	.	ENSG00000137177	ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T;T	0.76186	-0.98;1.41;-1.0;-0.97;-0.98;-0.97	5.6	5.6	0.85130	.	0.253973	0.39020	N	0.001481	T	0.72614	0.3482	M	0.82193	2.58	0.80722	D	1	P;B;P;B	0.40909	0.732;0.29;0.612;0.29	B;B;B;B	0.37422	0.249;0.042;0.127;0.042	T	0.78545	-0.2163	10	0.59425	D	0.04	.	19.9737	0.97296	0.0:1.0:0.0:0.0	.	1353;1366;1366;1353	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	I	1353;370;1366;1366;1353;1366	ENSP00000368091:V1353I;ENSP00000425616:V370I;ENSP00000259711:V1366I;ENSP00000368103:V1366I;ENSP00000368120:V1353I;ENSP00000368093:V1366I	ENSP00000259711:V1366I	V	-	1	0	KIF13A	17885561	1.000000	0.71417	0.968000	0.41197	0.608000	0.37181	7.445000	0.80570	2.793000	0.96121	0.591000	0.81541	GTC		0.448	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4				4	28	0	0	0	0.000248	0	4	28		
RPS18	6222	broad.mit.edu	37	6	33243640	33243640	+	Missense_Mutation	SNP	G	G	A	rs3208874		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:33243640G>A	ENST00000439602.2	+	3	279	c.169G>A	c.(169-171)Gga>Aga	p.G57R	B3GALT4_ENST00000451237.1_5'Flank|RPS18_ENST00000476222.1_3'UTR|RPS18_ENST00000474973.1_5'UTR			P62269	RS18_HUMAN	ribosomal protein S18	57					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CAAGAGGGCGGGAGAACTCAC	0.552																																						uc003odp.1		NaN																	0					0						c.(169-171)GGA>AGA		ribosomal protein S18							103.0	106.0	105.0					6																	33243640		2203	4300	6503	SO:0001583	missense	6222				endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr6:33243640G>A	X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.169G>A	6.37:g.33243640G>A	ENSP00000393241:p.Gly57Arg					RPS18_uc010jum.1_RNA|RPS18_uc003odq.1_RNA|B3GALT4_uc003odr.2_5'Flank	p.G57R	NM_022551	NP_072045	P62269	RS18_HUMAN			3	214	+			57					P25232|Q5SUJ3|Q6IPF8	Missense_Mutation	SNP	ENST00000439602.2	37	c.169G>A	CCDS4771.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858692	0.91433	.	.	ENSG00000231500	ENST00000439602	.	.	.	4.89	4.89	0.63831	Ribosomal protein S13-like, H2TH (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.89904	3.07	0.80722	D	1	P	0.52692	0.955	D	0.68353	0.957	D	0.85484	0.1181	9	0.87932	D	0	.	15.653	0.77112	0.0:0.0:1.0:0.0	.	57	P62269	RS18_HUMAN	R	57	.	ENSP00000393241:G57R	G	+	1	0	RPS18	33351618	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.353000	0.90077	2.559000	0.86315	0.573000	0.79308	GGA		0.552	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076059.2				4	152	0	0	0	0.000248	0	4	152		
RPL7L1	285855	broad.mit.edu	37	6	42848633	42848633	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:42848633C>G	ENST00000493763.1	+	2	352	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	RPL7L1_ENST00000602561.1_Missense_Mutation_p.L17V|RPL7L1_ENST00000397415.3_3'UTR|RPL7L1_ENST00000424341.2_Missense_Mutation_p.L17V|RPL7L1_ENST00000304734.5_Missense_Mutation_p.L17V	NM_198486.2	NP_940888.2	Q6DKI1	RL7L_HUMAN	ribosomal protein L7-like 1	17						ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGAAAATCTCCTGAAAAAGAG	0.453																																						uc003osq.1		NaN																	0					0						c.(49-51)CTG>GTG		ribosomal protein L7-like 1							37.0	42.0	41.0					6																	42848633		2200	4300	6500	SO:0001583	missense	285855				translation	large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr6:42848633C>G		CCDS4873.1	6p21.1	2011-01-14			ENSG00000146223	ENSG00000146223		"""L ribosomal proteins"""	21370	protein-coding gene	gene with protein product							Standard	NM_198486		Approved	dJ475N16.4	uc003osq.1	Q6DKI1	OTTHUMG00000014710	ENST00000493763.1:c.49C>G	6.37:g.42848633C>G	ENSP00000418221:p.Leu17Val					RPL7L1_uc011dux.1_Missense_Mutation_p.L17V|RPL7L1_uc010jxw.1_Intron|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Missense_Mutation_p.L17V|RPL7L1_uc003oss.1_Intron|RPL7L1_uc003ost.2_Missense_Mutation_p.L17V|RPL7L1_uc003osu.2_RNA	p.L17V	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)		2	54	+	Colorectal(47;0.196)		17					A8K7D4|B7Z652|Q5TFZ5|Q6PEK3	Missense_Mutation	SNP	ENST00000493763.1	37	c.49C>G	CCDS4873.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783780	0.70222	.	.	ENSG00000146223	ENST00000493763;ENST00000304734;ENST00000424341	.	.	.	4.92	4.05	0.47172	Ribosomal protein L30, N-terminal (1);	0.115061	0.42294	D	0.000727	T	0.74306	0.3699	M	0.91561	3.22	0.50813	D	0.999895	D;D	0.76494	0.999;0.997	D;D	0.70487	0.969;0.955	T	0.78277	-0.2266	9	0.62326	D	0.03	.	7.9082	0.29774	0.0:0.8108:0.0:0.1892	.	17;17	B7Z652;Q6DKI1	.;RL7L_HUMAN	V	17	.	ENSP00000346063:L17V	L	+	1	2	RPL7L1	42956611	0.977000	0.34250	1.000000	0.80357	0.991000	0.79684	0.951000	0.29135	1.214000	0.43395	0.655000	0.94253	CTG		0.453	RPL7L1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314417.1		XM_209769		40	27	0	0	0	0.00874	0	40	27		
MEP1A	4224	broad.mit.edu	37	6	46806751	46806751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:46806751G>T	ENST00000230588.4	+	14	2128	c.2119G>T	c.(2119-2121)Gag>Tag	p.E707*		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	707	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CTACACGGGGGAGCGCTGTCA	0.587																																						uc010jzh.1		NaN																	0				pancreas(2)|ovary(1)	3						c.(2119-2121)GAG>TAG		meprin A alpha precursor							146.0	132.0	137.0					6																	46806751		2203	4300	6503	SO:0001587	stop_gained	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46806751G>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.2119G>T	6.37:g.46806751G>T	ENSP00000230588:p.Glu707*					MEP1A_uc011dwg.1_Nonsense_Mutation_p.E429*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.E735*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.E607*	p.E707*	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		14	2161	+			707			EGF-like.|Extracellular (Potential).		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Nonsense_Mutation	SNP	ENST00000230588.4	37	c.2119G>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	G	36	5.604930	0.96626	.	.	ENSG00000112818	ENST00000230588	.	.	.	5.8	4.94	0.65067	.	0.181464	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-26.4337	15.0963	0.72238	0.0679:0.0:0.9321:0.0	.	.	.	.	X	707	.	ENSP00000230588:E707X	E	+	1	0	MEP1A	46914710	1.000000	0.71417	0.996000	0.52242	0.533000	0.34776	3.869000	0.56062	1.470000	0.48102	-0.143000	0.13931	GAG		0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1		NM_005588		82	87	1	0	2.61895e-37	0.00361	3.16905e-37	82	87		
ENPP3	5169	broad.mit.edu	37	6	131971180	131971180	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:131971180G>A	ENST00000414305.1	+	4	496	c.168G>A	c.(166-168)aaG>aaA	p.K56K	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Silent_p.K56K|ENPP3_ENST00000543135.1_Silent_p.K22K|ENPP3_ENST00000427148.2_Silent_p.K22K|ENPP3_ENST00000357639.3_Silent_p.K56K			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	56	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCTGCAGGAAGAAGTGCTTTG	0.463																																						uc003qcu.3		NaN																	0				ovary(3)|skin(1)	4						c.(166-168)AAG>AAA		ectonucleotide pyrophosphatase/phosphodiesterase							151.0	141.0	144.0					6																	131971180		2203	4300	6503	SO:0001819	synonymous_variant	5169				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity	g.chr6:131971180G>A	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.168G>A	6.37:g.131971180G>A						ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Silent_p.K22K|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Silent_p.K56K	p.K56K	NM_005021	NP_005012	O14638	ENPP3_HUMAN		GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)	4	515	+	Breast(56;0.0753)		56			Extracellular (Potential).|SMB 1.		Q5JTL3	Silent	SNP	ENST00000414305.1	37	c.168G>A	CCDS5148.1																																																																																				0.463	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043627.2				41	55	0	0	0	0.00623	0	41	55		
TAAR6	319100	broad.mit.edu	37	6	132891943	132891943	+	Silent	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:132891943C>A	ENST00000275198.1	+	1	483	c.483C>A	c.(481-483)ctC>ctA	p.L161L		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	161					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCCTGCCCCTCATGTACAGCG	0.502																																						uc011eck.1		NaN																	0				ovary(2)|skin(1)	3						c.(481-483)CTC>CTA		trace amine associated receptor 6							226.0	225.0	225.0					6																	132891943		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891943C>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.483C>A	6.37:g.132891943C>A							p.L161L	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	483	+	Breast(56;0.112)		161			Helical; Name=4; (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.483C>A	CCDS5155.1																																																																																				0.502	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1		NM_175067		155	154	1	0	2.98797e-67	0.00361	3.6489e-67	155	154		
TAB2	23118	broad.mit.edu	37	6	149700620	149700620	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:149700620G>C	ENST00000367456.1	+	4	2146	c.1569G>C	c.(1567-1569)ctG>ctC	p.L523L	TAB2_ENST00000538427.1_Silent_p.L523L|TAB2_ENST00000286332.5_Silent_p.L523L|TAB2_ENST00000392282.1_Silent_p.L523L|TAB2_ENST00000536230.1_Silent_p.L491L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	523					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CACGGAAACTGAGTATGGGAT	0.413																																						uc003qmj.2		NaN																	0					0						c.(1567-1569)CTG>CTC		mitogen-activated protein kinase kinase kinase 7							97.0	87.0	90.0					6																	149700620		2203	4300	6503	SO:0001819	synonymous_variant	23118				activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding	g.chr6:149700620G>C	AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.1569G>C	6.37:g.149700620G>C						TAB2_uc011eec.1_Silent_p.L491L|TAB2_uc010kia.1_Silent_p.L523L|TAB2_uc010kib.1_Silent_p.L523L|TAB2_uc003qmk.3_RNA	p.L523L	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN			3	1747	+			523					B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Silent	SNP	ENST00000367456.1	37	c.1569G>C	CCDS5214.1																																																																																				0.413	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3				35	31	0	0	0	0.003271	0	35	31		
HOXA2	3199	broad.mit.edu	37	7	27140803	27140803	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:27140803C>T	ENST00000222718.5	-	2	983	c.673G>A	c.(673-675)Gag>Aag	p.E225K	HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000429611.3_RNA|HOTAIRM1_ENST00000425358.2_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	225					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TCCTCGTCCTCCTCTACTTTC	0.517																																						uc003syh.2		NaN																	0				ovary(1)|skin(1)	2						c.(673-675)GAG>AAG		homeobox A2							122.0	109.0	113.0					7																	27140803		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27140803C>T		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.673G>A	7.37:g.27140803C>T	ENSP00000222718:p.Glu225Lys						p.E225K	NM_006735	NP_006726	O43364	HXA2_HUMAN			2	948	-			225					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.673G>A	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865840	0.51588	.	.	ENSG00000105996	ENST00000222718	T	0.10573	2.86	5.18	5.18	0.71444	.	0.099768	0.64402	D	0.000002	T	0.14830	0.0358	M	0.66939	2.045	0.80722	D	1	P	0.34800	0.469	B	0.26969	0.075	T	0.02491	-1.1151	10	0.49607	T	0.09	.	18.6845	0.91558	0.0:1.0:0.0:0.0	.	225	O43364	HXA2_HUMAN	K	225	ENSP00000222718:E225K	ENSP00000222718:E225K	E	-	1	0	HOXA2	27107328	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.727000	0.54984	2.576000	0.86940	0.655000	0.94253	GAG		0.517	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2				47	44	0	0	0	0.00361	0	47	44		
TNS3	64759	broad.mit.edu	37	7	47453569	47453569	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:47453569G>C	ENST00000398879.1	-	12	979	c.613C>G	c.(613-615)Caa>Gaa	p.Q205E	TNS3_ENST00000442536.2_Missense_Mutation_p.Q205E|TNS3_ENST00000311160.9_Missense_Mutation_p.Q205E|TNS3_ENST00000355730.3_Missense_Mutation_p.Q205E|TNS3_ENST00000458317.2_Missense_Mutation_p.Q205E			Q68CZ2	TENS3_HUMAN	tensin 3	205	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TGCATGGCTTGGTAGAGCTTC	0.552																																						uc003tnv.2		NaN																	0				ovary(4)	4						c.(613-615)CAA>GAA		tensin 3							112.0	123.0	119.0					7																	47453569		2104	4261	6365	SO:0001583	missense	64759					focal adhesion	protein binding	g.chr7:47453569G>C	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.613C>G	7.37:g.47453569G>C	ENSP00000381854:p.Gln205Glu					TNS3_uc003tnw.2_Missense_Mutation_p.Q205E|TNS3_uc010kyo.1_Missense_Mutation_p.Q205E	p.Q205E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN			12	980	-			205			C2 tensin-type.		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	ENST00000398879.1	37	c.613C>G	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960553	0.53400	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000457718;ENST00000450444;ENST00000442536;ENST00000458317	D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	4.68	4.68	0.58851	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	1.317180	0.05151	U	0.496093	D	0.91630	0.7355	L	0.58428	1.81	0.40122	D	0.976613	P;D	0.69078	0.629;0.997	B;D	0.79108	0.292;0.992	T	0.83310	-0.0023	10	0.49607	T	0.09	-18.4486	13.4318	0.61059	0.0:0.0:1.0:0.0	.	205;205	Q68CZ2-4;Q68CZ2	.;TENS3_HUMAN	E	205;315;205;205;308;294;205;205	ENSP00000312143:Q205E;ENSP00000381854:Q205E;ENSP00000347968:Q205E;ENSP00000414358:Q308E;ENSP00000396914:Q294E;ENSP00000389285:Q205E;ENSP00000388318:Q205E	ENSP00000312143:Q205E	Q	-	1	0	TNS3	47420094	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.915000	0.87484	2.303000	0.77524	0.462000	0.41574	CAA		0.552	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		NM_022748		61	84	0	0	0	0.00361	0	61	84		
ZPBP	11055	broad.mit.edu	37	7	50023061	50023061	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:50023061G>A	ENST00000046087.2	-	7	907	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	ZPBP_ENST00000419417.1_Missense_Mutation_p.R279C|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	280					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGTTCTGCACGTCTGCCAAGA	0.323																																						uc003tou.2		NaN																	0					0						c.(838-840)CGT>TGT		zona pellucida binding protein isoform 1							60.0	60.0	60.0					7																	50023061		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50023061G>A	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.838C>T	7.37:g.50023061G>A	ENSP00000046087:p.Arg280Cys					ZPBP_uc011kci.1_Missense_Mutation_p.R206C|ZPBP_uc010kyw.2_Missense_Mutation_p.R279C	p.R280C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			7	908	-	Glioma(55;0.08)|all_neural(89;0.245)		280					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.838C>T	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006721	0.54361	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.53857	0.6;0.6	5.72	4.84	0.62591	.	0.198066	0.36034	N	0.002831	T	0.65165	0.2665	L	0.57536	1.79	0.39156	D	0.962328	D;D	0.76494	0.999;0.999	D;D	0.63597	0.916;0.916	T	0.67288	-0.5708	9	.	.	.	-14.8018	12.9688	0.58501	0.0:0.0:0.7071:0.2929	.	279;280	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	C	280;279	ENSP00000046087:R280C;ENSP00000402071:R279C	.	R	-	1	0	ZPBP	49993607	0.990000	0.36364	0.984000	0.44739	0.789000	0.44602	1.996000	0.40776	1.394000	0.46624	0.573000	0.79308	CGT		0.323	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1		NM_007009		26	20	0	0	0	0.00333	0	26	20		
PCLO	27445	broad.mit.edu	37	7	82785410	82785410	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:82785410C>T	ENST00000333891.9	-	2	884	c.547G>A	c.(547-549)Gag>Aag	p.E183K	PCLO_ENST00000423517.2_Missense_Mutation_p.E183K	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGATGCCTCAGAGTCTGAT	0.418																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(547-549)GAG>AAG		piccolo isoform 1							96.0	94.0	94.0					7																	82785410		1863	4095	5958	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82785410C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.547G>A	7.37:g.82785410C>T	ENSP00000334319:p.Glu183Lys					PCLO_uc003uhv.2_Missense_Mutation_p.E183K	p.E183K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			2	836	-			183						Missense_Mutation	SNP	ENST00000333891.9	37	c.547G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.547822	0.65311	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19105	2.17;2.17	5.63	5.63	0.86233	.	.	.	.	.	T	0.15609	0.0376	N	0.14661	0.345	0.80722	D	1	P;P	0.35272	0.493;0.493	B;B	0.30495	0.116;0.116	T	0.07009	-1.0795	9	0.87932	D	0	.	19.6937	0.96012	0.0:1.0:0.0:0.0	.	183;183	Q9Y6V0-5;Q9Y6V0-6	.;.	K	183	ENSP00000334319:E183K;ENSP00000388393:E183K	ENSP00000334319:E183K	E	-	1	0	PCLO	82623346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.775000	0.75018	2.665000	0.90641	0.655000	0.94253	GAG		0.418	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		29	30	0	0	0	0.002096	0	29	30		
PSMC2	5701	broad.mit.edu	37	7	103003152	103003152	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:103003152C>G	ENST00000435765.1	+	7	853	c.442C>G	c.(442-444)Caa>Gaa	p.Q148E	PSMC2_ENST00000292644.3_Missense_Mutation_p.Q148E|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.Q11E|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AAATAAATATCAAATTCACAT	0.333																																						uc003vbs.2		NaN																	0					0						c.(442-444)CAA>GAA		proteasome 26S ATPase subunit 2							88.0	94.0	92.0					7																	103003152		2203	4300	6503	SO:0001583	missense	5701				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	g.chr7:103003152C>G	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.442C>G	7.37:g.103003152C>G	ENSP00000391211:p.Gln148Glu					SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.Q11E	p.Q148E	NM_002803	NP_002794	P35998	PRS7_HUMAN			6	512	+			148					A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Missense_Mutation	SNP	ENST00000435765.1	37	c.442C>G	CCDS5731.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738316	0.49045	.	.	ENSG00000161057	ENST00000435765;ENST00000292644;ENST00000544811	D;D;D	0.94232	-3.38;-3.38;-3.33	5.49	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.91727	0.7384	M	0.70842	2.15	0.80722	D	1	B	0.09022	0.002	B	0.11329	0.006	D	0.88385	0.3004	10	0.22706	T	0.39	-18.8126	14.3324	0.66566	0.0:0.9285:0.0:0.0715	.	148	P35998	PRS7_HUMAN	E	148;148;11	ENSP00000391211:Q148E;ENSP00000292644:Q148E;ENSP00000445546:Q11E	ENSP00000292644:Q148E	Q	+	1	0	PSMC2	102790388	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.697000	0.84279	1.457000	0.47850	0.655000	0.94253	CAA		0.333	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803		52	4	0	0	0	0.00361	0	52	4		
ST7	7982	broad.mit.edu	37	7	116849888	116849888	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr7:116849888G>A	ENST00000393446.2	+	12	1536	c.1233G>A	c.(1231-1233)ctG>ctA	p.L411L	ST7_ENST00000393447.4_Silent_p.L391L|ST7_ENST00000422922.1_Silent_p.L365L|ST7_ENST00000393451.3_Silent_p.L411L|ST7_ENST00000393449.1_Silent_p.L434L|ST7_ENST00000393444.3_Silent_p.L368L|ST7_ENST00000393443.1_Silent_p.L361L|ST7_ENST00000323984.3_Silent_p.L434L|ST7_ENST00000265437.5_Silent_p.L434L|ST7_ENST00000432298.1_Silent_p.L388L			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AACATATCCTGAAGAGAGGAG	0.388																																						uc003vin.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1300-1302)CTG>CTA		suppression of tumorigenicity 7 isoform b							102.0	90.0	94.0					7																	116849888		2203	4300	6503	SO:0001819	synonymous_variant	7982					integral to membrane	binding	g.chr7:116849888G>A	AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1233G>A	7.37:g.116849888G>A						ST7_uc011knl.1_Silent_p.L411L|ST7_uc003vio.2_Silent_p.L411L|ST7_uc003viq.2_Silent_p.L388L|ST7_uc011knm.1_Silent_p.L391L|ST7_uc003vir.2_Silent_p.L359L|ST7_uc011knn.1_Silent_p.L382L|ST7OT3_uc003viy.1_RNA	p.L434L	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)	13	1516	+	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		434					A8K137|B4DRQ2	Silent	SNP	ENST00000393446.2	37	c.1302G>A																																																																																					0.388	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000319687.1		NM_021908		4	33	0	0	0	0.000248	0	4	33		
STC1	6781	broad.mit.edu	37	8	23709043	23709043	+	Splice_Site	SNP	C	C	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:23709043C>A	ENST00000290271.2	-	3	546	c.263G>T	c.(262-264)gGa>gTa	p.G88V	STC1_ENST00000524323.1_Splice_Site_p.G19V	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	88					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAATGCTTTTCCCTGCCATGG	0.507																																						uc003xdw.1		NaN																	0				skin(3)|upper_aerodigestive_tract(1)	4						c.(262-264)GGA>GTA		stanniocalcin 1 precursor							87.0	77.0	80.0					8																	23709043		2203	4300	6503	SO:0001630	splice_region_variant	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23709043C>A		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.262-1G>T	8.37:g.23709043C>A							p.G88V	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	547	-		Prostate(55;0.055)|Breast(100;0.116)	88					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.263G>T	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584884	0.86748	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.79540	0.4463	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80692	-0.1269	9	0.87932	D	0	-0.2249	18.516	0.90936	0.0:1.0:0.0:0.0	.	88	P52823	STC1_HUMAN	V	88;19;19	.	ENSP00000290271:G88V	G	-	2	0	STC1	23764988	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.298000	0.78815	2.725000	0.93324	0.655000	0.94253	GGA		0.507	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			Missense_Mutation	12	21	1	0	4.36969e-10	0.001855	5.12375e-10	12	21		
PXDNL	137902	broad.mit.edu	37	8	52321351	52321351	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:52321351C>T	ENST00000356297.4	-	17	2933	c.2833G>A	c.(2833-2835)Gcg>Acg	p.A945T	PXDNL_ENST00000543296.1_Missense_Mutation_p.A945T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	945					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A945T(1)|p.A144T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCCTGTCGCGCGCACTCGGTG	0.647																																						uc003xqu.3		NaN																	2	Substitution - Missense(2)		large_intestine(2)	ovary(1)|pancreas(1)	2						c.(2833-2835)GCG>ACG		peroxidasin homolog-like precursor							15.0	17.0	16.0					8																	52321351		1959	4139	6098	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321351C>T		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2833G>A	8.37:g.52321351C>T	ENSP00000348645:p.Ala945Thr					PXDNL_uc003xqt.3_RNA	p.A945T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2934	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	945					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2833G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	5.961	0.361280	0.11296	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.72942	-0.7;-0.7	3.8	-7.59	0.01308	.	1.234380	0.06407	N	0.719947	T	0.29028	0.0721	N	0.01464	-0.85	0.09310	N	0.999999	B	0.02656	0.0	B	0.09377	0.004	T	0.26608	-1.0098	10	0.09590	T	0.72	.	0.2894	0.00256	0.2712:0.2021:0.138:0.3887	.	945	A1KZ92	PXDNL_HUMAN	T	945	ENSP00000348645:A945T;ENSP00000444865:A945T	ENSP00000348645:A945T	A	-	1	0	PXDNL	52483904	0.945000	0.32115	0.000000	0.03702	0.000000	0.00434	1.226000	0.32563	-1.213000	0.02617	-0.857000	0.03018	GCG		0.647	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1		NM_144651		12	19	0	0	0	0.000978	0	12	19		
TMEM68	137695	broad.mit.edu	37	8	56675387	56675387	+	Silent	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:56675387G>C	ENST00000434581.2	-	3	331	c.132C>G	c.(130-132)ctC>ctG	p.L44L	TMEM68_ENST00000519784.1_Intron|TMEM68_ENST00000522576.1_Silent_p.L44L|TMEM68_ENST00000334667.2_Silent_p.L44L|TMEM68_ENST00000521229.1_Silent_p.L44L|TMEM68_ENST00000523073.1_Intron			Q96MH6	TMM68_HUMAN	transmembrane protein 68	44						integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			AAACCCACAAGAGATAGTTTG	0.338																																						uc003xsg.1		NaN																	0				skin(1)	1						c.(130-132)CTC>CTG		transmembrane protein 68							70.0	69.0	70.0					8																	56675387		2203	4300	6503	SO:0001819	synonymous_variant	137695					integral to membrane	acyltransferase activity	g.chr8:56675387G>C	AK056932	CCDS6161.1, CCDS75740.1, CCDS75741.1, CCDS75742.1	8q12.1	2011-12-12			ENSG00000167904	ENSG00000167904			26510	protein-coding gene	gene with protein product						12477932	Standard	XM_005251150		Approved	FLJ32370	uc003xsh.1	Q96MH6	OTTHUMG00000164293	ENST00000434581.2:c.132C>G	8.37:g.56675387G>C						TMEM68_uc003xsh.1_Silent_p.L44L|TMEM68_uc003xsi.1_Silent_p.L44L	p.L44L	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Epithelial(17;0.000361)|all cancers(17;0.00326)		1	201	-			44					Q658X6|Q8WUD2	Silent	SNP	ENST00000434581.2	37	c.132C>G																																																																																					0.338	TMEM68-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000378137.1		NM_152417		16	27	0	0	0	0.00499	0	16	27		
EXT1	2131	broad.mit.edu	37	8	118842578	118842578	+	Missense_Mutation	SNP	G	G	A	rs374821962		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:118842578G>A	ENST00000378204.2	-	4	1981	c.1175C>T	c.(1174-1176)aCa>aTa	p.T392I		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	392					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGACCTGATTGTAGAAGGAAT	0.353			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													uc003yok.1		NaN	yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	Mis|N|F|S	multiple exostoses type 1 gene			M		exostoses|osteosarcoma			0				ovary(2)|lung(2)	4						c.(1174-1176)ACA>ATA		exostosin 1		G	ILE/THR	0,4406		0,0,2203	83.0	81.0	81.0		1175	6.2	1.0	8		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	EXT1	NM_000127.2	89	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	392/747	118842578	1,13005	2203	4300	6503	SO:0001583	missense	2131	Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118842578G>A	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1175C>T	8.37:g.118842578G>A	ENSP00000367446:p.Thr392Ile						p.T392I	NM_000127	NP_000118	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		4	1948	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		392			Lumenal (Potential).		B2R7V2|Q9BVI9	Missense_Mutation	SNP	ENST00000378204.2	37	c.1175C>T	CCDS6324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	7.595|7.595	0.671538|0.671538	0.14776|0.14776	0.0|0.0	1.16E-4|1.16E-4	ENSG00000182197|ENSG00000182197	ENST00000436216|ENST00000378204	.|D	.|0.97209	.|-4.29	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.87083	.|0.6089	N|N	0.00335|0.00335	-1.625|-1.625	0.58432|0.58432	D|D	0.999994|0.999994	.|B	.|0.06786	.|0.001	.|B	.|0.16289	.|0.015	.|D	.|0.84449	.|0.0587	.|10	.|0.02654	.|T	.|1	-16.2722|-16.2722	20.8598|20.8598	0.99761|0.99761	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|392	.|Q16394	.|EXT1_HUMAN	X|I	200|392	.|ENSP00000367446:T392I	.|ENSP00000367446:T392I	Q|T	-|-	1|2	0|0	EXT1|EXT1	118911759|118911759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.058000|8.058000	0.89460|0.89460	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAA|ACA		0.353	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3		NM_000127		16	24	0	0	0	0.004007	0	16	24		
C8orf76	84933	broad.mit.edu	37	8	124253503	124253503	+	Silent	SNP	G	G	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr8:124253503G>T	ENST00000276704.4	-	1	135	c.84C>A	c.(82-84)ccC>ccA	p.P28P	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	28										NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTAGGACGCGGGCGGTCCTG	0.736																																						uc003yqc.1		NaN																	0				ovary(2)	2						c.(82-84)CCC>CCA		hypothetical protein LOC84933							7.0	9.0	9.0					8																	124253503		2110	4192	6302	SO:0001819	synonymous_variant	84933						binding	g.chr8:124253503G>T	AK027731	CCDS6341.1	8q24.13	2012-06-27			ENSG00000189376	ENSG00000189376			25924	protein-coding gene	gene with protein product							Standard	NM_032847		Approved	FLJ14825	uc003yqc.2	Q96K31	OTTHUMG00000172562	ENST00000276704.4:c.84C>A	8.37:g.124253503G>T						C8orf76_uc003yqd.2_Intron	p.P28P	NM_032847	NP_116236	Q96K31	CH076_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		1	115	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		28					Q53HC1	Silent	SNP	ENST00000276704.4	37	c.84C>A	CCDS6341.1																																																																																				0.736	C8orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381748.1		NM_032847		10	9	1	0	7.48243e-07	0.006214	8.69668e-07	10	9		
SLC1A1	6505	broad.mit.edu	37	9	4585317	4585317	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:4585317G>A	ENST00000262352.3	+	12	1570	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	445					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	CCCAGGGACCGGTTCAGGACC	0.507																																						uc003zij.1		NaN																	0					0						c.(1333-1335)CGG>CAG		solute carrier family 1, member 1	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)						82.0	75.0	77.0					9																	4585317		2203	4300	6503	SO:0001583	missense	6505				D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr9:4585317G>A		CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1334G>A	9.37:g.4585317G>A	ENSP00000262352:p.Arg445Gln					C9orf68_uc003zik.2_Intron	p.R445Q	NM_004170	NP_004161	P43005	EAA3_HUMAN		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	12	1570	+		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)	445					O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	ENST00000262352.3	37	c.1334G>A	CCDS6452.1	.	.	.	.	.	.	.	.	.	.	G	35	5.438650	0.96168	.	.	ENSG00000106688	ENST00000262352	T	0.60299	0.2	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85248	0.5653	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89682	0.3891	10	0.87932	D	0	-7.8105	19.85	0.96736	0.0:0.0:1.0:0.0	.	445	P43005	EAA3_HUMAN	Q	445	ENSP00000262352:R445Q	ENSP00000262352:R445Q	R	+	2	0	SLC1A1	4575317	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.697000	0.92050	0.563000	0.77884	CGG		0.507	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051571.1				30	59	0	0	0	0.002096	0	30	59		
ZDHHC21	340481	broad.mit.edu	37	9	14674276	14674276	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:14674276G>A	ENST00000380916.4	-	4	529	c.63C>T	c.(61-63)gtC>gtT	p.V21V		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	21					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		ACCAAACAAAGACAATCAAAC	0.378																																						uc003zli.2		NaN																	0					0						c.(61-63)GTC>GTT		zinc finger, DHHC-type containing 21							103.0	109.0	107.0					9																	14674276		2203	4300	6503	SO:0001819	synonymous_variant	340481				nitric oxide metabolic process|regulation of nitric-oxide synthase activity	Golgi membrane|integral to membrane	palmitoyltransferase activity|zinc ion binding	g.chr9:14674276G>A	AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.63C>T	9.37:g.14674276G>A						ZDHHC21_uc003zlg.1_Intron	p.V21V	NM_178566	NP_848661	Q8IVQ6	ZDH21_HUMAN		GBM - Glioblastoma multiforme(50;4.31e-06)	4	533	-			21			Helical; (Potential).		A8KA95|D3DRI7|Q5VWG1	Silent	SNP	ENST00000380916.4	37	c.63C>T	CCDS6475.1																																																																																				0.378	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051748.2		NM_178566		3	45	0	0	0	0.004672	0	3	45		
PSIP1	11168	broad.mit.edu	37	9	15468842	15468842	+	Splice_Site	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:15468842C>G	ENST00000380733.4	-	14	1550		c.e14-1		PSIP1_ENST00000380738.4_Splice_Site			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		ATCGCCGTATCTGAGAAAACA	0.299																																						uc003zlv.3		NaN																	0				breast(1)	1						c.e14-1		PC4 and SFRS1 interacting protein 1 isoform 2							68.0	66.0	66.0					9																	15468842		2203	4300	6503	SO:0001630	splice_region_variant	11168				initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity	g.chr9:15468842C>G	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.1207-1G>C	9.37:g.15468842C>G						PSIP1_uc003zlw.3_Splice_Site_p.I403_splice	p.I403_splice	NM_033222	NP_150091	O75475	PSIP1_HUMAN		GBM - Glioblastoma multiforme(50;2.38e-06)	14	1537	-								D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Splice_Site	SNP	ENST00000380733.4	37	c.1207_splice	CCDS6479.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728730	0.48833	.	.	ENSG00000164985	ENST00000380733;ENST00000380738	.	.	.	5.55	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4818	0.55847	0.0:0.9225:0.0:0.0775	.	.	.	.	.	-1	.	.	.	-	.	.	PSIP1	15458842	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.495000	0.66912	2.766000	0.95052	0.650000	0.86243	.		0.299	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1		NM_033222	Intron	20	3	0	0	0	0.008871	0	20	3		
FAM189A2	9413	broad.mit.edu	37	9	71990748	71990748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:71990748C>T	ENST00000257515.8	+	4	640	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	FAM189A2_ENST00000303068.7_5'UTR|FAM189A2_ENST00000455972.1_Nonsense_Mutation_p.Q74*	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	74						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTTCCGGTTCAGCCCTGTAG	0.463																																						uc010mon.1		NaN																	0					0						c.(220-222)CAG>TAG		chromosome 9 open reading frame 61 precursor							135.0	132.0	133.0					9																	71990748		2203	4300	6503	SO:0001587	stop_gained	9413					integral to membrane		g.chr9:71990748C>T	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.220C>T	9.37:g.71990748C>T	ENSP00000257515:p.Gln74*					FAM189A2_uc004ahg.2_Nonsense_Mutation_p.Q74*|FAM189A2_uc010moo.1_5'UTR	p.Q74*	NM_001127608	NP_001121080	Q15884	F1892_HUMAN			4	324	+			74					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Nonsense_Mutation	SNP	ENST00000257515.8	37	c.220C>T	CCDS6629.1	.	.	.	.	.	.	.	.	.	.	C	38	6.744957	0.97805	.	.	ENSG00000135063	ENST00000455972;ENST00000257515;ENST00000377225	.	.	.	5.53	5.53	0.82687	.	0.132844	0.51477	D	0.000098	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-22.3918	15.0174	0.71597	0.1429:0.8571:0.0:0.0	.	.	.	.	X	74;74;73	.	ENSP00000257515:Q74X	Q	+	1	0	FAM189A2	71180568	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	3.716000	0.54904	2.599000	0.87857	0.462000	0.41574	CAG		0.463	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2		NM_004816		57	4	0	0	0	0.00361	0	57	4		
HSD17B3	3293	broad.mit.edu	37	9	98997817	98997817	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr9:98997817G>C	ENST00000375263.3	-	11	905	c.858C>G	c.(856-858)ttC>ttG	p.F286L	HSD17B3_ENST00000464104.1_5'UTR|AL160269.1_ENST00000577254.1_RNA|HSD17B3_ENST00000375262.2_Missense_Mutation_p.F236L	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	286					androgen biosynthetic process (GO:0006702)|male genitalia development (GO:0030539)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)	p.F286F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)				CACCGCTGTAGAAGGCCCAGG	0.537																																						uc004awa.1		NaN																	1	Substitution - coding silent(1)		breast(1)		0						c.(856-858)TTC>TTG		estradiol 17 beta-dehydrogenase 3	NADH(DB00157)						87.0	71.0	76.0					9																	98997817		2203	4300	6503	SO:0001583	missense	3293				androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr9:98997817G>C		CCDS6716.1	9q22	2011-09-20			ENSG00000130948	ENSG00000130948	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5212	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 12C, member 2"""	605573				8075637, 19027726	Standard	NM_000197		Approved	SDR12C2	uc004awa.1	P37058	OTTHUMG00000020292	ENST00000375263.3:c.858C>G	9.37:g.98997817G>C	ENSP00000364412:p.Phe286Leu					HSD17B3_uc010msc.1_Missense_Mutation_p.F236L	p.F286L	NM_000197	NP_000188	P37058	DHB3_HUMAN			11	906	-		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)	286					Q5U0Q6	Missense_Mutation	SNP	ENST00000375263.3	37	c.858C>G	CCDS6716.1	.	.	.	.	.	.	.	.	.	.	G	2.950	-0.217048	0.06101	.	.	ENSG00000130948	ENST00000375263;ENST00000375262	D;D	0.84516	-1.86;-1.86	4.96	-0.306	0.12780	.	0.462726	0.25205	N	0.032353	T	0.65176	0.2666	N	0.10809	0.05	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.52071	-0.8624	10	0.36615	T	0.2	-23.3342	4.6852	0.12754	0.2605:0.2987:0.4408:0.0	.	236;286	Q5U0Q6;P37058	.;DHB3_HUMAN	L	286;236	ENSP00000364412:F286L;ENSP00000364411:F236L	ENSP00000364411:F236L	F	-	3	2	HSD17B3	98037638	0.974000	0.33945	0.005000	0.12908	0.370000	0.29829	0.901000	0.28445	-0.133000	0.11537	0.591000	0.81541	TTC		0.537	HSD17B3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053259.1		NM_000197		18	0	0	0	0	0.001882	0	18	0		
CXorf38	159013	broad.mit.edu	37	X	40506339	40506339	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:40506339G>A	ENST00000327877.5	-	2	297	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	CXorf38_ENST00000378418.2_Missense_Mutation_p.H91Y|CXorf38_ENST00000440784.2_Intron|CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	91										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						CTGTTGACATGATGTCTCAAA	0.632																																						uc004dew.2		NaN																	0				ovary(1)	1						c.(271-273)CAT>TAT		hypothetical protein LOC159013							38.0	36.0	36.0					X																	40506339		2203	4300	6503	SO:0001583	missense	159013							g.chrX:40506339G>A	AL832829	CCDS14253.1	Xp11	2008-02-05			ENSG00000185753	ENSG00000185753			28589	protein-coding gene	gene with protein product							Standard	NM_144970		Approved	MGC39350	uc004dew.3	Q8TB03	OTTHUMG00000024104	ENST00000327877.5:c.271C>T	X.37:g.40506339G>A	ENSP00000330488:p.His91Tyr					CXorf38_uc011mko.1_Intron|CXorf38_uc004dev.1_5'UTR|CXorf38_uc010nhd.2_RNA	p.H91Y	NM_144970	NP_659407	Q8TB03	CX038_HUMAN			2	276	-			91					B3KW28|D3DWB5|Q5JPF5|Q8N941	Missense_Mutation	SNP	ENST00000327877.5	37	c.271C>T	CCDS14253.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.731682	0.89390	.	.	ENSG00000185753	ENST00000327877;ENST00000378418	T;T	0.42513	0.97;0.97	5.26	5.26	0.73747	.	0.212479	0.39274	N	0.001404	T	0.58595	0.2133	L	0.52364	1.645	0.48696	D	0.999691	D	0.71674	0.998	D	0.74023	0.982	T	0.56529	-0.7964	10	0.39692	T	0.17	-1.6175	16.6076	0.84835	0.0:0.0:1.0:0.0	.	91	Q8TB03	CX038_HUMAN	Y	91	ENSP00000330488:H91Y;ENSP00000367674:H91Y	ENSP00000330488:H91Y	H	-	1	0	CXorf38	40391283	1.000000	0.71417	0.997000	0.53966	0.783000	0.44284	7.665000	0.83852	2.178000	0.69098	0.597000	0.82753	CAT		0.632	CXorf38-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060685.3		NM_144970		27	0	0	0	0	0.005443	0	27	0		
HUWE1	10075	broad.mit.edu	37	X	53631583	53631583	+	Missense_Mutation	SNP	G	G	C	rs141644800		TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:53631583G>C	ENST00000342160.3	-	25	3166	c.2709C>G	c.(2707-2709)atC>atG	p.I903M	HUWE1_ENST00000218328.8_Missense_Mutation_p.I903M|HUWE1_ENST00000262854.6_Missense_Mutation_p.I903M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	903					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAACATCATGATGTAGGCAT	0.473																																						uc004dsp.2		NaN																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(2707-2709)ATC>ATG		HECT, UBA and WWE domain containing 1							75.0	62.0	66.0					X																	53631583		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53631583G>C	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.2709C>G	X.37:g.53631583G>C	ENSP00000340648:p.Ile903Met						p.I903M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			26	3111	-			903					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.2709C>G	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048307	0.55110	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328	T;T;T	0.56444	0.75;0.75;0.46	5.29	4.43	0.53597	.	0.284988	0.32548	N	0.005947	T	0.47021	0.1423	L	0.48642	1.525	0.51482	D	0.999928	P	0.49961	0.93	B	0.42214	0.38	T	0.51942	-0.8641	10	0.87932	D	0	.	11.8727	0.52529	0.0874:0.0:0.9126:0.0	.	903	Q7Z6Z7	HUWE1_HUMAN	M	903	ENSP00000340648:I903M;ENSP00000262854:I903M;ENSP00000218328:I903M	ENSP00000218328:I903M	I	-	3	3	HUWE1	53648308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.919000	0.63383	1.225000	0.43566	0.600000	0.82982	ATC		0.473	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1		XM_497119		34	0	0	0	0	0.003271	0	34	0		
IL2RG	3561	broad.mit.edu	37	X	70327696	70327696	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:70327696C>G	ENST00000374202.2	-	8	1091	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Missense_Mutation_p.E63Q|IL2RG_ENST00000456850.2_Missense_Mutation_p.E144Q	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	334					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	GGGGGAATCTCACTGACGAGG	0.597									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1		NaN																	0				pancreas(1)	1						c.(1000-1002)GAG>CAG		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						32.0	29.0	30.0					X																	70327696		2203	4300	6503	SO:0001583	missense	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327696C>G	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.1000G>C	X.37:g.70327696C>G	ENSP00000363318:p.Glu334Gln					CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.E63Q|IL2RG_uc004dyx.1_Missense_Mutation_p.E144Q	p.E334Q	NM_000206	NP_000197	P31785	IL2RG_HUMAN			8	1014	-	Renal(35;0.156)		334			Cytoplasmic (Potential).		Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.1000G>C	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	C	19.35	3.810440	0.70797	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98876	-4.33;-5.2;-2.46	4.23	4.23	0.50019	.	0.506266	0.19657	N	0.109077	D	0.98852	0.9612	M	0.73962	2.25	0.42420	D	0.992632	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.994;0.994;0.994	D	0.99632	1.0986	10	0.72032	D	0.01	-13.7241	12.5758	0.56363	0.0:1.0:0.0:0.0	.	144;334;63	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	Q	334;144;63	ENSP00000363318:E334Q;ENSP00000388967:E144Q;ENSP00000363303:E63Q	ENSP00000363303:E63Q	E	-	1	0	IL2RG	70244421	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.763000	0.55257	1.957000	0.56846	0.292000	0.19580	GAG		0.597	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2				31	0	0	0	0	0.001786	0	31	0		
IL2RG	3561	broad.mit.edu	37	X	70327726	70327726	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:70327726C>G	ENST00000374202.2	-	8	1061	c.970G>C	c.(970-972)Gac>Cac	p.D324H	CXorf65_ENST00000374251.5_5'Flank|IL2RG_ENST00000374188.3_Missense_Mutation_p.D53H|IL2RG_ENST00000456850.2_Missense_Mutation_p.D134H	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	324					immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	TCACTGTAGTCTGGCTGCAGA	0.577									Severe Combined Immunodeficiency, X-linked																													uc004dyw.1		NaN																	0				pancreas(1)	1						c.(970-972)GAC>CAC		interleukin 2 receptor, gamma precursor	Aldesleukin(DB00041)|Denileukin diftitox(DB00004)						36.0	31.0	33.0					X																	70327726		2203	4300	6503	SO:0001583	missense	3561	Severe_Combined_Immunodeficiency_X-linked	Familial Cancer Database	Agammaglobulinemia, Swiss Type	immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding	g.chrX:70327726C>G	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.970G>C	X.37:g.70327726C>G	ENSP00000363318:p.Asp324His					CXorf65_uc011mpo.1_5'Flank|CXorf65_uc011mpp.1_5'Flank|IL2RG_uc004dyv.1_Missense_Mutation_p.D53H|IL2RG_uc004dyx.1_Missense_Mutation_p.D134H	p.D324H	NM_000206	NP_000197	P31785	IL2RG_HUMAN			8	984	-	Renal(35;0.156)		324			Cytoplasmic (Potential).		Q5FC12	Missense_Mutation	SNP	ENST00000374202.2	37	c.970G>C	CCDS14406.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205131	0.58234	.	.	ENSG00000147168	ENST00000374202;ENST00000456850;ENST00000374188	D;D;D	0.98060	-3.92;-4.69;-1.96	4.39	4.39	0.52855	.	0.126462	0.52532	D	0.000069	D	0.97688	0.9242	L	0.60455	1.87	0.31905	N	0.615395	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.74023	0.982;0.936;0.982	D	0.96626	0.9463	10	0.72032	D	0.01	-10.0328	7.3484	0.26676	0.0:0.8807:0.0:0.1193	.	134;324;53	Q5FC12;P31785;Q5FC10	.;IL2RG_HUMAN;.	H	324;134;53	ENSP00000363318:D324H;ENSP00000388967:D134H;ENSP00000363303:D53H	ENSP00000363303:D53H	D	-	1	0	IL2RG	70244451	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.377000	0.44300	2.038000	0.60285	0.468000	0.43344	GAC		0.577	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057102.2				36	0	0	0	0	0.003271	0	36	0		
STAG2	10735	broad.mit.edu	37	X	123197011	123197011	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:123197011C>T	ENST00000371160.1	+	19	2067	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q524*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q593*|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q593*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q593*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	593					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCAGTTGCCTCAGTACTTTGA	0.279																																						uc004etz.3		NaN																	0				ovary(4)|skin(1)	5						c.(1777-1779)CAG>TAG		stromal antigen 2 isoform b							64.0	62.0	63.0					X																	123197011		2203	4300	6503	SO:0001587	stop_gained	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123197011C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1777C>T	X.37:g.123197011C>T	ENSP00000360202:p.Gln593*					STAG2_uc004eua.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eub.2_Nonsense_Mutation_p.Q593*|STAG2_uc004euc.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eud.2_Nonsense_Mutation_p.Q593*|STAG2_uc004eue.2_Nonsense_Mutation_p.Q593*	p.Q593*	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			18	2116	+			593					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	ENST00000371160.1	37	c.1777C>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	C	40	8.253080	0.98727	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.58	5.58	0.84498	.	0.119109	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-17.9199	18.5988	0.91240	0.0:1.0:0.0:0.0	.	.	.	.	X	593;524;593;593;593;593	.	ENSP00000218089:Q593X	Q	+	1	0	STAG2	123024692	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	6.003000	0.70701	2.335000	0.79485	0.544000	0.68410	CAG		0.279	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2		NM_006603		31	1	0	0	0	0.002445	0	31	1		
RENBP	5973	broad.mit.edu	37	X	153205630	153205630	+	Silent	SNP	G	G	A			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chrX:153205630G>A	ENST00000393700.3	-	9	1082	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Silent_p.L320L|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	334					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGTAACCCATGAGGAAGGCAA	0.602																																						uc004fjo.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(1000-1002)CTC>CTT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)						133.0	92.0	106.0					X																	153205630		2203	4300	6503	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153205630G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1002C>T	X.37:g.153205630G>A							p.L334L	NM_002910	NP_002901	P51606	RENBP_HUMAN			9	1172	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		334					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.1002C>T	CCDS14738.2																																																																																				0.602	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3		NM_002910		46	1	0	0	0	0.00361	0	46	1		
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																						uc001tiq.2		NaN																	0					0	GRCh37	CD035010	SYCP3	D		c.(643-645)ATTfs		synaptonemal complex protein 3			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122901delT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs					CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Frame_Shift_Del_p.I215fs|SYCP3_uc001tis.2_Frame_Shift_Del_p.I215fs	p.I215fs	NM_153694	NP_710161	Q8IZU3	SYCP3_HUMAN			8	775	-			215			Potential.|Gln-rich.			Frame_Shift_Del	DEL	ENST00000392927.3	37	c.643delA	CCDS9087.1																																																																																				0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2		NM_153694		7	70	NaN	NaN	NaN	NaN	NaN	7	70	---	---
NCOR2	9612	broad.mit.edu	37	12	124885065	124885065	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			G	-	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr12:124885065delG	ENST00000405201.1	-	15	1795	c.1795delC	c.(1795-1797)cagfs	p.Q600fs	NCOR2_ENST00000404121.2_Frame_Shift_Del_p.Q170fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.Q599fs|NCOR2_ENST00000356219.3_Frame_Shift_Del_p.Q600fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.Q599fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.Q600fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	600					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCGCTCTGCTGGGGGGTGATG	0.622																																						uc010tba.1		NaN																	0				skin(3)|ovary(1)	4						c.(1795-1797)CAGfs		nuclear receptor co-repressor 2 isoform 2							107.0	103.0	104.0					12																	124885065		1964	4153	6117	SO:0001589	frameshift_variant	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124885065delG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1795delC	12.37:g.124885065delG	ENSP00000384018:p.Gln600fs					NCOR2_uc010tay.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010taz.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbb.1_Frame_Shift_Del_p.Q599fs|NCOR2_uc010tbc.1_Frame_Shift_Del_p.Q598fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.Q599fs	p.Q599fs	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	15	1912	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		599					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Del	DEL	ENST00000405201.1	37	c.1795delC	CCDS41858.2																																																																																				0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312		65	92	NaN	NaN	NaN	NaN	NaN	65	92	---	---
ITFG1	81533	broad.mit.edu	37	16	47195718	47195719	+	Frame_Shift_Ins	INS	-	-	CAGTC			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr16:47195718_47195719insCAGTC	ENST00000320640.6	-	16	1831_1832	c.1603_1604insGACTG	c.(1603-1605)gcafs	p.A535fs	ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000544001.2_Frame_Shift_Ins_p.A422fs|RP11-329J18.2_ENST00000565694.1_RNA	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	535						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGGAATGATTGCAGTCCACTCT	0.337																																						uc002eet.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1603-1605)GCAfs		integrin alpha FG-GAP repeat containing 1																																				SO:0001589	frameshift_variant	81533					extracellular region|integral to membrane		g.chr16:47195718_47195719insCAGTC	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1599_1603dupGACTG	16.37:g.47195719_47195723dupCAGTC	ENSP00000319918:p.Ala535fs					ITFG1_uc010vgg.1_Frame_Shift_Ins_p.A280fs|ITFG1_uc010vgh.1_Frame_Shift_Ins_p.A422fs	p.A535fs	NM_030790	NP_110417	Q8TB96	TIP_HUMAN			16	1665_1666	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	535					Q96SR4|Q9BRE2|Q9H2V9	Frame_Shift_Ins	INS	ENST00000320640.6	37	c.1603_1604insGACTG	CCDS10728.1																																																																																				0.337	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3		NM_030790		7	109	NaN	NaN	NaN	NaN	NaN	7	109	---	---
MEX3D	399664	broad.mit.edu	37	19	1556090	1556090	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:1556090delA	ENST00000402693.4	-	2	1427	c.1428delT	c.(1426-1428)tttfs	p.F476fs	AC027307.2_ENST00000581992.1_RNA|MEX3D_ENST00000388824.6_Frame_Shift_Del_p.F476fs|AC027307.1_ENST00000410788.1_RNA	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	476					mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGCGCTCAAAAGGCGCCC	0.756																																						uc010dsn.2		NaN																	0				lung(1)	1						c.(1426-1428)TTTfs		ring finger and KH domain containing 1							2.0	2.0	2.0					19																	1556090		1308	2950	4258	SO:0001589	frameshift_variant	399664				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding	g.chr19:1556090delA	AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.1428delT	19.37:g.1556090delA	ENSP00000384398:p.Phe476fs						p.F476fs	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	1428	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	476					A0PJL8|A1L023|E9PAL6|Q71M49	Frame_Shift_Del	DEL	ENST00000402693.4	37	c.1428delT	CCDS32865.2																																																																																				0.756	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317870.2		NM_203304		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
RASIP1	54922	broad.mit.edu	37	19	49232663	49232663	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr19:49232663delC	ENST00000222145.4	-	5	1568	c.1364delG	c.(1363-1365)ggcfs	p.G455fs	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	455					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GACTGGGGCGCCCCGGGACGG	0.701																																						uc002pki.2		NaN																	0				pancreas(1)	1						c.(1363-1365)GGCfs		Ras-interacting protein 1							4.0	5.0	5.0					19																	49232663		2017	3869	5886	SO:0001589	frameshift_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49232663delC	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1364delG	19.37:g.49232663delC	ENSP00000222145:p.Gly455fs						p.G455fs	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	5	1561	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	455					Q6U676	Frame_Shift_Del	DEL	ENST00000222145.4	37	c.1364delG	CCDS12731.1																																																																																				0.701	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1		NM_017805		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
CDKN1A	1026	broad.mit.edu	37	6	36651923	36651930	+	Frame_Shift_Del	DEL	CAAGGCCT	CAAGGCCT	-			TCGA-CF-A27C-01A-11D-A16O-08	TCGA-CF-A27C-10A-01D-A16O-08			CAAGGCCT	-	CAAGGCCT	CAAGGCCT		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	acc629cb-ad03-4cec-9b21-922e4932ef3e	7c729b94-1488-4dec-b534-5d73530e535c	g.chr6:36651923_36651930delCAAGGCCT	ENST00000405375.1	+	2	280_287	c.45_52delCAAGGCCT	c.(43-54)agcaaggcctgcfs	p.SKAC15fs	CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.SKAC15fs|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.SKAC15fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.SKAC49fs	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	15					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.S15fs*15(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CATGCGGCAGCAAGGCCTGCCGCCGCCT	0.635																																						uc003omm.3		NaN																	1	Deletion - Frameshift(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(43-54)AGCAAGGCCTGCfs		cyclin-dependent kinase inhibitor 1A																																				SO:0001589	frameshift_variant	1026	Multiple_Endocrine_Neoplasia_type_1			cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	g.chr6:36651923_36651930delCAAGGCCT	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.45_52delCAAGGCCT	6.37:g.36651923_36651930delCAAGGCCT	ENSP00000384849:p.Ser15fs					CDKN1A_uc011dtq.1_Frame_Shift_Del_p.S49fs|CDKN1A_uc003oml.2_Frame_Shift_Del_p.S15fs|CDKN1A_uc003omn.2_Frame_Shift_Del_p.S15fs	p.S15fs	NM_000389	NP_000380	P38936	CDN1A_HUMAN			2	167_174	+			15_18			Required for binding cyclins.|C4-type (Potential).		Q14010|Q6FI05|Q9BUT4	Frame_Shift_Del	DEL	ENST00000405375.1	37	c.45_52delCAAGGCCT	CCDS4824.1																																																																																				0.635	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1		NM_078467		11	1	NaN	NaN	NaN	NaN	NaN	11	1	---	---
